Клиническая и генетическая оценка лиц с недиагностированными заболеваниями через сеть недиагностированных заболеваний
17 сентября 2026 г. обновлено: National Human Genome Research Institute (NHGRI)
Клиническая и генетическая оценка пациентов с недиагностированными заболеваниями через сеть недиагностированных заболеваний
Фон:
- Без объяснения тяжелых, а иногда и опасных для жизни симптомов пациенты и их семьи остаются в состоянии неизвестности. NIH помог создать сеть медицинских исследовательских центров, названную Сеть недиагностированных заболеваний (UDN), для оказания помощи и ответов на эти вопросы.
Цели:
- Улучшить диагностику и уход за людьми с невыявленными заболеваниями.
Право на участие:
- Люди с невыявленными заболеваниями и их родственники.
Дизайн:
Участники отправятся в один из медицинских центров UDN для 5-дневного клинического и исследовательского визита.
В рамках визита поставщики медицинских услуг UDN могут попросить участников иметь:
Клинически показанные тесты и процедуры, включая:
- Медицинский осмотр
- Анализы крови и мочи
- Обзор здоровья и семейного анамнеза
- Рентген и сканирование тела
- Опросы
- Фотографии лица и тела
- Специальная диета, чтобы увидеть, может ли организм справиться с едой без реакции, такой как рвота.
- Видео или голосовые записи
- Другие тесты и процедуры, помогающие поставить диагноз
Выполненные исследовательские тесты и процедуры, включая:
- Биопсия кожи. Для этого берется небольшой кусочек кожи.
- Опросы
- Другие тесты и процедуры исследования, которые могут не иметь отношения к диагностике или лечению.
- Большинству участников будет предложено предоставить образцы для генетического тестирования.
- С участниками можно связаться после их визита, чтобы обсудить результаты тестирования. С ними также можно связаться в будущем для интервью и опросов.
- Родственников участников могут попросить предоставить образцы для генетического тестирования. Их могут попросить записать части своего визита и пройти дополнительные тесты. С ними также можно связаться в будущем для интервью и опросов.
- Собранная клиническая и исследовательская информация будет храниться в базе данных.
- Собранная информация и образцы будут переданы другим в исследовательских целях.
Обзор исследования
Статус
Рекрутинг
Условия
Подробное описание
Без объяснения тяжелых, а иногда и опасных для жизни симптомов, пациенты и их семьи остаются в состоянии неизвестности.
Многие люди переходят от врача к врачу, проходя бесчисленные и часто повторяющиеся тесты в надежде найти ответы и понять, что их ждет в будущем.
Этот долгий и трудный путь к постановке диагноза не заканчивается для многих пациентов — Управление исследований редких заболеваний (ORDR) отмечает, что 6% людей, обращающихся к ним за помощью, имеют невыявленное заболевание.
В 2008 году была создана Программа недиагностированных заболеваний (UDP) Национального института здравоохранения (NIH) с целью предоставления помощи и ответов для этих людей с загадочными состояниями, которые долгое время ускользали от диагностики.
NIH UDP является совместным предприятием NIH ORDR, Программы внутренних исследований Национального института исследования генома человека (NHGRI-IRP) и Центра клинических исследований NIH (CRC).
Цели NIH UDP: (1) дать ответы пациентам с невыявленными заболеваниями; (2) генерировать новые знания о механизмах заболевания; (3) оценить применение новых подходов к фенотипированию и использованию геномных технологий; и (4) определить потенциальные терапевтические мишени, если это возможно.
До создания Сети недиагностированных заболеваний (UDN) UDP проанализировал 3300 медицинских карт, принял 750 человек с редкими и недиагностированными заболеваниями в Клинический центр NIH и выявил более 70 диагнозов редких заболеваний и несколько новых состояний.
Успех UDP NIH побудил Общий фонд NIH поддержать создание сети медицинских исследовательских центров UDN на 2013–2022 финансовые годы.
В клинических центрах проводится обширное фенотипирование, генетический анализ и функциональные исследования возможных вариантов, вызывающих заболевание.
Тестирование, проводимое на пациентах, включает в себя медицинские показания, предназначенные для постановки диагноза, а также научные исследования, включающие биопсию кожи, забор крови и анализ ДНК.
Кроме того, UDN способствует достижению целей UDP, позволяя обмениваться личной идентифицируемой фенотипической и генотипической информацией внутри сети.
Делясь информацией об участниках и поощряя сотрудничество, UDN надеется улучшить понимание редких состояний и улучшить процесс диагностики и ухода за людьми с невыявленными заболеваниями.
Тип исследования
Наблюдательный
Регистрация (Оцененный)
20000
Контакты и местонахождение
В этом разделе приведены контактные данные лиц, проводящих исследование, и информация о том, где проводится это исследование.
Контакты исследования
- Имя: Paul Mazur
- Номер телефона: (844) 746-4836
- Электронная почта: udn@hms.harvard.edu
Места учебы
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Alabama
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Birmingham, Alabama, Соединенные Штаты, 35233
- Рекрутинг
- University of Alabama at Birmingham
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Контакт:
- Bruce Korf, M.D.
- Электронная почта: bkorf@uab.edu
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Huntsville, Alabama, Соединенные Штаты, 35806
- Завершенный
- HudsonAlpha Institute for Biotechnology, Inc.
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California
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Los Angeles, California, Соединенные Штаты, 90095
- Рекрутинг
- University of California, Los Angeles
-
Контакт:
- Stanley Nelson, M.D.
- Номер телефона: 310-794-7981
- Электронная почта: snelson@ucla.edu
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Orange, California, Соединенные Штаты, 92668
- Рекрутинг
- University of California, Irvine Medical Center
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Контакт:
- Changrui Xiao, M.D.
- Номер телефона: 714-456-7720
- Электронная почта: changrx@hs.uci.edu
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Stanford, California, Соединенные Штаты, 94305
- Рекрутинг
- Leland Stanford Junior University
-
Контакт:
- Euan Ashley, MD, PhD
- Номер телефона: Not Listed
- Электронная почта: euan@stanford.edu
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Stanford, California, Соединенные Штаты, 94305
- Рекрутинг
- Stanford Hospital and Clinics
-
Контакт:
- Jonathan Bernstein, MD, PhD
- Номер телефона: Not Listed
- Электронная почта: jon.bernstein@stanford.edu
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Stanford, California, Соединенные Штаты, 94020
- Завершенный
- Lucile Salter Packard Children's Hospital at Stanford
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Stanford, California, Соединенные Штаты, 94305-5584
- Рекрутинг
- Stanford University
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Контакт:
- Euan Ashley, M.D.
- Номер телефона: 650-736-1147
- Электронная почта: euan@stanford.edu
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District of Columbia
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Washington D.C., District of Columbia, Соединенные Штаты, 20010
- Рекрутинг
- Childrens National Medical Center
-
Контакт:
- Eric Vilain, M.D.
- Номер телефона: 202-476-3216
- Электронная почта: evilain@childrensnational.org
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Florida
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Miami, Florida, Соединенные Штаты, 33136
- Рекрутинг
- University of Miami Miller School of Medicine
-
Контакт:
- Mustafa Tekin, MD
- Номер телефона: 305-243-2381
- Электронная почта: mtekin@med.miami.edu
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Illinois
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Chicago, Illinois, Соединенные Штаты, 60611
- Еще не набирают
- Lurie Children s Hospital
-
Контакт:
- Carlos Prada, M.D.
- Номер телефона: 513-304-8906
- Электронная почта: cprada@luriechildrens.org
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Indiana
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Indianapolis, Indiana, Соединенные Штаты, 46202-5262
- Рекрутинг
- Indiana University
-
Контакт:
- Stephane Ware, M.D.
- Номер телефона: 317-274-8938
- Электронная почта: stware@iu.edu
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Maryland
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Bethesda, Maryland, Соединенные Штаты, 20892
- Рекрутинг
- National Institutes of Health Clinical Center
-
Контакт:
- For more information at the NIH Clinical Center contact Office of Patient Recruitment (OPR)
- Номер телефона: TTY dial 711 800-411-1222
- Электронная почта: ccopr@nih.gov
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Massachusetts
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Boston, Massachusetts, Соединенные Штаты, 02115
- Рекрутинг
- Brigham and Women's Hospital
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Контакт:
- David Sweetser, M.D., Ph.D.
- Номер телефона: 617-726-1742
- Электронная почта: dsweetser@partners.org
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Boston, Massachusetts, Соединенные Штаты, 02114
- Рекрутинг
- Massachusetts General Hospital
-
Контакт:
- David Sweetser, M.D.
- Номер телефона: 617-726-1742
- Электронная почта: dsweetser@partners.org
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Boston, Massachusetts, Соединенные Штаты, 02115
- Рекрутинг
- Boston Children s Hospital
-
Контакт:
- Ingrid Holm, M.D.
- Номер телефона: 617-919-2338
- Электронная почта: ingrid.holm@childrens.harvard.edu
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Boston, Massachusetts, Соединенные Штаты, 02115
- Еще не набирают
- Harvard U Faculty of Medicine
-
Контакт:
- Isaac Kohane
- Номер телефона: Not Listed
- Электронная почта: isaac_kohane@harvard.edu
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Boston, Massachusetts, Соединенные Штаты, 02115
- Завершенный
- Harvard T.H. Chan School of Public Health
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Minnesota
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Rochester, Minnesota, Соединенные Штаты, 55905
- Рекрутинг
- Mayo Clinic
-
Контакт:
- Brendan Lanpher
- Электронная почта: lanpher.brendan@mayo.edu
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Missouri
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St Louis, Missouri, Соединенные Штаты, 63110
- Рекрутинг
- Washington University in St. Louis
-
Контакт:
- Patricia Dickson
- Номер телефона: Not Listed
- Электронная почта: pdickson@wustl.edu
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New York
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New York, New York, Соединенные Штаты, 10013
- Активный, не рекрутирующий
- New York Genome Center
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North Carolina
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Durham, North Carolina, Соединенные Штаты, 27710
- Рекрутинг
- Duke University Health System
-
Контакт:
- Vandana Shashi, MD
- Номер телефона: Not Listed
- Электронная почта: Vandana.shashi@duke.edu
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Oregon
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Eugene, Oregon, Соединенные Штаты, 97403
- Еще не набирают
- University of Oregon
-
Контакт:
- Monte Westerfield, PhD
- Номер телефона: Not Listed
- Электронная почта: monte@uoneuro.uoregon.edu
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Portland, Oregon, Соединенные Штаты, 97201-3098
- Завершенный
- Oregon Health Sciences University
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Pennsylvania
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Philadelphia, Pennsylvania, Соединенные Штаты, 19104
- Рекрутинг
- Children's Hospital of Philadelphia
-
Контакт:
- Kathleen Sullivan, M.D.
- Номер телефона: Not Listed
- Электронная почта: sullivank@email.chop.edu
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Philadelphia, Pennsylvania, Соединенные Штаты, 19104-6056
- Рекрутинг
- University of Pennsylvania
-
Контакт:
- Daniel Rader, M.D.
- Электронная почта: rader@pennmedicine.upenn.edu
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Tennessee
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Nashville, Tennessee, Соединенные Штаты, 37232
- Рекрутинг
- Vanderbilt University Medical Center
-
Контакт:
- Rizwan Hamid, M.D.
- Электронная почта: rizwan.hamid@vumc.org
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Texas
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Houston, Texas, Соединенные Штаты, 77030
- Рекрутинг
- Baylor College of Medicine
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Контакт:
- Brendan Lee, M.D.
- Номер телефона: 713-798-8835
- Электронная почта: blee@bcm.edu
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Utah
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Salt Lake City, Utah, Соединенные Штаты, 84112
- Рекрутинг
- University of Utah
-
Контакт:
- Lorenzo Botto, M.D.
- Номер телефона: 801-581-8943
- Электронная почта: lorenzo.botto@hsc.utah.edu
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Washington
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Richland, Washington, Соединенные Штаты, 99354
- Завершенный
- Pacific Northwest National Laboratory
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Seattle, Washington, Соединенные Штаты, 98195
- Рекрутинг
- University of Washington
-
Контакт:
- Gail Jarvik, M.D.
- Номер телефона: Not Listed
- Электронная почта: pair@uw.edu
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Seattle, Washington, Соединенные Штаты, 98101
- Рекрутинг
- Seattle Children's Hospital
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Контакт:
- Katrina Dipple, MD, PhD
- Номер телефона: Not Listed
- Электронная почта: katrina.dipple@seattlechildrens.org
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Wisconsin
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Milwaukee, Wisconsin, Соединенные Штаты, 53226
- Рекрутинг
- Medical College of Wisconsin
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Критерии участия
Исследователи ищут людей, которые соответствуют определенному описанию, называемому критериям приемлемости. Некоторыми примерами этих критериев являются общее состояние здоровья человека или предшествующее лечение.
Критерии приемлемости
Возраст, подходящий для обучения
От 1 месяц до 100 лет (Ребенок, Взрослый, Пожилой взрослый)
Принимает здоровых добровольцев
Да
Метод выборки
Невероятностная выборка
Исследуемая популяция
Лица с невыявленными заболеваниями
Описание
- КРИТЕРИИ ВКЛЮЧЕНИЯ:
Идеальные кандидаты на получение UDN включают в себя лиц с:
- Один или несколько объективных результатов, относящихся к фенотипу, для которого была подана заявка на UDN.
- Отсутствие диагноза, несмотря на оценку по крайней мере двумя специалистами, которые оценивали пациента на наличие объективного(ых) результата(ов).
- Соглашение о хранении и обмене информацией и биоматериалами идентифицированным образом среди центров UDN и неидентифицированным образом с исследовательскими сайтами за пределами сети.
- Кандидаты, которые не могут дать согласие, могут быть зачислены.
КРИТЕРИЙ ИСКЛЮЧЕНИЯ:
- Кандидаты, которые вряд ли будут приняты, включают лиц с:
- Зарегистрированные симптомы без соответствующих объективных данных.
- Диагноз, объясняющий объективные данные.
- Диагноз, предложенный при просмотре записи.
- Нежелание делиться данными.
Учебный план
В этом разделе представлена подробная информация о плане исследования, в том числе о том, как планируется исследование и что оно измеряет.
Как устроено исследование?
Детали дизайна
- Наблюдательные модели: Только для случая
- Временные перспективы: Перспективный
Когорты и вмешательства
Группа / когорта |
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Недиагностированные расстройства
Пациенты с редкими недиагностированными заболеваниями.
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Что измеряет исследование?
Первичные показатели результатов
Мера результата |
Мера Описание |
Временное ограничение |
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Создайте интегрированное и совместное исследовательское сообщество в нескольких клинических центрах, а также между лабораторными и клиническими исследователями, готовыми исследовать патофизиологию этих новых и редких заболеваний, влияние диагностических ...
Временное ограничение: День 1-5 и последующие
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Создайте интегрированное и совместное исследовательское сообщество в нескольких клинических центрах, а также между лабораторными и клиническими исследователями, готовыми исследовать патофизиологию этих новых и редких заболеваний, влияние диагностического процесса на пациентов и их семьи, и делиться этим пониманием, чтобы определить улучшенные варианты для оптимального лечения. ведение пациентов.
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День 1-5 и последующие
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Содействовать исследованиям этиологии невыявленных заболеваний путем сбора и обмена стандартизированными высококачественными клиническими и лабораторными данными, включая генотипирование, фенотипирование и документирование воздействия окружающей среды.
Временное ограничение: День 1-5 и последующие
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Содействие исследованиям этиологии невыявленных заболеваний путем сбора и обмена стандартизированными высококачественными клиническими и лабораторными данными, включая генотипирование, фенотипирование и документирование воздействия окружающей среды.
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День 1-5 и последующие
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Повысить уровень диагностики и ухода за пациентами с невыявленными заболеваниями за счет разработки общих протоколов и протоколов для конкретных мест, разработанных расширенным сообществом исследователей.
Временное ограничение: День 1-5 и последующие
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Повысить уровень диагностики и ухода за пациентами с невыявленными заболеваниями за счет разработки общих протоколов и протоколов для конкретных мест, разработанных расширенным сообществом исследователей.
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День 1-5 и последующие
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Соавторы и исследователи
Здесь вы найдете людей и организации, участвующие в этом исследовании.
Следователи
- Главный следователь: William A Gahl, M.D., National Human Genome Research Institute (NHGRI)
Публикации и полезные ссылки
Лицо, ответственное за внесение сведений об исследовании, добровольно предоставляет эти публикации. Это может быть что угодно, связанное с исследованием.
Общие публикации
- Splinter K, Adams DR, Bacino CA, Bellen HJ, Bernstein JA, Cheatle-Jarvela AM, Eng CM, Esteves C, Gahl WA, Hamid R, Jacob HJ, Kikani B, Koeller DM, Kohane IS, Lee BH, Loscalzo J, Luo X, McCray AT, Metz TO, Mulvihill JJ, Nelson SF, Palmer CGS, Phillips JA 3rd, Pick L, Postlethwait JH, Reuter C, Shashi V, Sweetser DA, Tifft CJ, Walley NM, Wangler MF, Westerfield M, Wheeler MT, Wise AL, Worthey EA, Yamamoto S, Ashley EA; Undiagnosed Diseases Network. Effect of Genetic Diagnosis on Patients with Previously Undiagnosed Disease. N Engl J Med. 2018 Nov 29;379(22):2131-2139. doi: 10.1056/NEJMoa1714458. Epub 2018 Oct 10.
- Lee H, Huang AY, Wang LK, Yoon AJ, Renteria G, Eskin A, Signer RH, Dorrani N, Nieves-Rodriguez S, Wan J, Douine ED, Woods JD, Dell'Angelica EC, Fogel BL, Martin MG, Butte MJ, Parker NH, Wang RT, Shieh PB, Wong DA, Gallant N, Singh KE, Tavyev Asher YJ, Sinsheimer JS, Krakow D, Loo SK, Allard P, Papp JC; Undiagnosed Diseases Network; Palmer CGS, Martinez-Agosto JA, Nelson SF. Diagnostic utility of transcriptome sequencing for rare Mendelian diseases. Genet Med. 2020 Mar;22(3):490-499. doi: 10.1038/s41436-019-0672-1. Epub 2019 Oct 14.
- Han ST, Kim AC, Garcia K, Schimmenti LA, Macnamara E, Network UD, Gahl WA, Malicdan MC, Tifft CJ. PUS7 deficiency in human patients causes profound neurodevelopmental phenotype by dysregulating protein translation. Mol Genet Metab. 2022 Mar;135(3):221-229. doi: 10.1016/j.ymgme.2022.01.103. Epub 2022 Feb 1.
- Rodan LH, Qi W, Ducker GS, Demirbas D, Laine R, Yang E, Walker MA, Eichler F, Rabinowitz JD, Anselm I, Berry GT; Undiagnosed Diseases Network (UDN). 5,10-methenyltetrahydrofolate synthetase deficiency causes a neurometabolic disorder associated with microcephaly, epilepsy, and cerebral hypomyelination. Mol Genet Metab. 2018 Sep;125(1-2):118-126. doi: 10.1016/j.ymgme.2018.06.006. Epub 2018 Jun 15.
- DeBalsi KL, Newman JH, Sommerville LJ, Phillips JA 3rd, Hamid R, Cogan J, Fessel JP, Evans AM, Undiagnosed Diseases Network; Undiagnosed Diseases Network; Kennedy AD. A Case Study of Dysfunctional Nicotinamide Metabolism in a 20-Year-Old Male. Metabolites. 2023 Mar 8;13(3):399. doi: 10.3390/metabo13030399.
- Shashi V, Schoch K, Spillmann R, Cope H, Tan QK, Walley N, Pena L, McConkie-Rosell A, Jiang YH, Stong N, Need AC, Goldstein DB; Undiagnosed Diseases Network. A comprehensive iterative approach is highly effective in diagnosing individuals who are exome negative. Genet Med. 2019 Jan;21(1):161-172. doi: 10.1038/s41436-018-0044-2. Epub 2018 Jun 15.
- Spillmann RC, Tan QK, Reuter C, Schoch K; Undiagnosed Diseases Network; Kohler J, Bonner D, Zastrow D, Alkelai A, Baugh E, Cope H, Marwaha S, Wheeler MT, Bernstein JA, Shashi V; Undiagnosed Diseases Network. A concurrent dual analysis of genomic data augments diagnoses: Experiences of 2 clinical sites in the Undiagnosed Diseases Network. Genet Med. 2023 Apr;25(4):100353. doi: 10.1016/j.gim.2022.12.001. Epub 2022 Dec 5.
- Jangam SV, Briere LC, Jay KL, Andrews JC, Walker MA, Rodan LH, High FA; Undiagnosed Diseases Network; Yamamoto S, Sweetser DA, Wangler MF. A de novo missense variant in EZH1 associated with developmental delay exhibits functional deficits in Drosophila melanogaster. Genetics. 2023 Aug 9;224(4):iyad110. doi: 10.1093/genetics/iyad110.
- Briere LC, Walker MA, High FA, Cooper C, Rogers CA, Callahan CJ, Ishimura R, Ichimura Y, Caruso PA, Sharma N, Brokamp E, Koziura ME, Mohammad SS, Dale RC, Riley LG; Undiagnosed Diseases Network; Phillips JA, Komatsu M, Sweetser DA. A description of novel variants and review of phenotypic spectrum in UBA5-related early epileptic encephalopathy. Cold Spring Harb Mol Case Stud. 2021 Jun 11;7(3):a005827. doi: 10.1101/mcs.a005827. Print 2021 Jun.
- Huang H, Pan J, Spielberg DR, Hanchard NA, Scott DA, Burrage LC, Dai H, Murdock D, Rosenfeld JA, Mohammad A, Huang T, Lindsey AG, Kim H, Chen J, Ramu A, Morrison SA, Dawson ZD, Hu AZ, Tycksen E, Silverman GA, Baldridge D, Wambach JA; Undiagnosed Diseases Network; Pak SC, Brody SL, Schedl T. A dominant negative variant of RAB5B disrupts maturation of surfactant protein B and surfactant protein C. Proc Natl Acad Sci U S A. 2022 Feb 8;119(6):e2105228119. doi: 10.1073/pnas.2105228119.
- Ganapathi M, Friocourt G, Gueguen N, Friederich MW, Le Gac G, Okur V, Loaec N, Ludwig T, Ka C, Tanji K, Marcorelles P, Theodorou E, Lignelli-Dipple A, Voisset C, Walker MA, Briere LC, Bourhis A, Blondel M, LeDuc C, Hagen J, Cooper C, Muraresku C, Ferec C, Garenne A, Lelez-Soquet S, Rogers CA, Shen Y, Strode DK, Bizargity P, Iglesias A, Goldstein A, High FA, Network UD, Sweetser DA, Ganetzky R, Van Hove JLK, Procaccio V, Le Marechal C, Chung WK. A homozygous splice variant in ATP5PO, disrupts mitochondrial complex V function and causes Leigh syndrome in two unrelated families. J Inherit Metab Dis. 2022 Sep;45(5):996-1012. doi: 10.1002/jimd.12526. Epub 2022 Jul 11.
- Gumusderelioglu S, Resch L, Brock T; Undiagnosed Diseases Network; Luxton GWG, Cope H, Tan QK, Hopkins C, Starr DA. A humanized Caenorhabditis elegans model of hereditary spastic paraplegia-associated variants in KLC4. Dis Model Mech. 2023 Aug 1;16(8):dmm050076. doi: 10.1242/dmm.050076. Epub 2023 Aug 29.
- Reuter CM, Brimble E, DeFilippo C, Dries AM; Undiagnosed Diseases Network; Enns GM, Ashley EA, Bernstein JA, Fisher PG, Wheeler MT. A New Approach to Rare Diseases of Children: The Undiagnosed Diseases Network. J Pediatr. 2018 May;196:291-297.e2. doi: 10.1016/j.jpeds.2017.12.029. Epub 2018 Jan 11. No abstract available.
- Keehan L, Jiang MM, Li X, Marom R, Dai H, Murdock D, Liu P, Hunter JV, Heaney JD, Robak L, Emrick L, Lotze T, Blieden LS; Undiagnosed Diseases Network; Lewis RA, Levin AV, Capasso J, Craigen WJ, Rosenfeld JA, Lee B, Burrage LC. A novel de novo intronic variant in ITPR1 causes Gillespie syndrome. Am J Med Genet A. 2021 Aug;185(8):2315-2324. doi: 10.1002/ajmg.a.62232. Epub 2021 May 5.
- Merriweather A, Murdock DR, Rosenfeld JA, Dai H, Ketkar S, Emrick L, Nicholas S, Lewis RA; Undiagnosed Diseases Network; Bacino CA, Scott DA, Lee B, Sutton VR, Potocki L, Burrage LC. A novel, de novo intronic variant in POGZ causes White-Sutton syndrome. Am J Med Genet A. 2022 Jul;188(7):2198-2203. doi: 10.1002/ajmg.a.62747. Epub 2022 Apr 9.
- Hom J, Marwaha S, Postolova A, Kittle J, Vasquez R, Davidson J, Kohler J, Dries A, Fernandez-Betancourt L, Majcherska M, Dearlove J, Raghavan S, Vogel H, Bernstein JA, Fisher P, Ashley E, Sampson J, Wheeler M; Undiagnosed Diseases Network. A Patient with Sjogren's Syndrome and Subsequent Diagnosis of Inclusion Body Myositis and Light-Chain Amyloidosis. J Gen Intern Med. 2019 Jun;34(6):1058-1062. doi: 10.1007/s11606-019-04931-w. Epub 2019 Mar 18.
- Ferreira CR, Xia ZJ, Clement A, Parry DA, Davids M, Taylan F, Sharma P, Turgeon CT, Blanco-Sanchez B, Ng BG, Logan CV, Wolfe LA, Solomon BD, Cho MT, Douglas G, Carvalho DR, Bratke H, Haug MG, Phillips JB, Wegner J, Tiemeyer M, Aoki K; Undiagnosed Diseases Network; Scottish Genome Partnership; Nordgren A, Hammarsjo A, Duker AL, Rohena L, Hove HB, Ek J, Adams D, Tifft CJ, Onyekweli T, Weixel T, Macnamara E, Radtke K, Powis Z, Earl D, Gabriel M, Russi AHS, Brick L, Kozenko M, Tham E, Raymond KM, Phillips JA 3rd, Tiller GE, Wilson WG, Hamid R, Malicdan MCV, Nishimura G, Grigelioniene G, Jackson A, Westerfield M, Bober MB, Gahl WA, Freeze HH. A Recurrent De Novo Heterozygous COG4 Substitution Leads to Saul-Wilson Syndrome, Disrupted Vesicular Trafficking, and Altered Proteoglycan Glycosylation. Am J Hum Genet. 2018 Oct 4;103(4):553-567. doi: 10.1016/j.ajhg.2018.09.003.
- Schoch K, Meng L, Szelinger S, Bearden DR, Stray-Pedersen A, Busk OL, Stong N, Liston E, Cohn RD, Scaglia F, Rosenfeld JA, Tarpinian J, Skraban CM, Deardorff MA, Friedman JN, Akdemir ZC, Walley N, Mikati MA, Kranz PG, Jasien J, McConkie-Rosell A, McDonald M, Wechsler SB, Freemark M, Kansagra S, Freedman S, Bali D, Millan F, Bale S, Nelson SF, Lee H, Dorrani N; UCLA Clinical Genomics Center; Undiagnosed Diseases Network; Goldstein DB, Xiao R, Yang Y, Posey JE, Martinez-Agosto JA, Lupski JR, Wangler MF, Shashi V. A Recurrent De Novo Variant in NACC1 Causes a Syndrome Characterized by Infantile Epilepsy, Cataracts, and Profound Developmental Delay. Am J Hum Genet. 2017 Feb 2;100(2):343-351. doi: 10.1016/j.ajhg.2016.12.013. Epub 2017 Jan 26.
- Polovitskaya MM, Barbini C, Martinelli D, Harms FL, Cole FS, Calligari P, Bocchinfuso G, Stella L, Ciolfi A, Niceta M, Rizza T, Shinawi M, Sisco K, Johannsen J, Denecke J, Carrozzo R, Wegner DJ, Kutsche K, Tartaglia M, Jentsch TJ. A Recurrent Gain-of-Function Mutation in CLCN6, Encoding the ClC-6 Cl-/H+-Exchanger, Causes Early-Onset Neurodegeneration. Am J Hum Genet. 2020 Dec 3;107(6):1062-1077. doi: 10.1016/j.ajhg.2020.11.004. Epub 2020 Nov 19.
- Dai H, Zhu W, Yuan B, Walley N, Schoch K, Jiang YH, Phillips JA, Jones MS, Liu P, Murdock DR, Burrage LC, Lee B, Rosenfeld JA, Xiao R; Undiagnosed Diseases Network. A recurrent single-exon deletion in TBCK might be under-recognized in patients with infantile hypotonia and psychomotor delay. Hum Mutat. 2022 Dec;43(12):1816-1823. doi: 10.1002/humu.24497. Epub 2022 Nov 6.
- Ghosh SG, Scala M, Beetz C, Helman G, Stanley V, Yang X, Breuss MW, Mazaheri N, Selim L, Hadipour F, Pais L, Stutterd CA, Karageorgou V, Begtrup A, Crunk A, Juusola J, Willaert R, Flore LA, Kennelly K, Spencer C, Brown M, Trapane P, Hurst ACE, Lane Rutledge S, Goodloe DH, McDonald MT, Shashi V, Schoch K; Undiagnosed Diseases Network; Tomoum H, Zaitoun R, Hadipour Z, Galehdari H, Pagnamenta AT, Mojarrad M, Sedaghat A, Dias P, Quintas S, Eslahi A, Shariati G, Bauer P, Simons C, Houlden H, Issa MY, Zaki MS, Maroofian R, Gleeson JG. A relatively common homozygous TRAPPC4 splicing variant is associated with an early-infantile neurodegenerative syndrome. Eur J Hum Genet. 2021 Feb;29(2):271-279. doi: 10.1038/s41431-020-00717-5. Epub 2020 Sep 8.
- Kyle JE, Stratton KG, Zink EM, Kim YM, Bloodsworth KJ, Monroe ME; Undiagnosed Diseases Network; Waters KM, Webb-Robertson BM, Koeller DM, Metz TO. A resource of lipidomics and metabolomics data from individuals with undiagnosed diseases. Sci Data. 2021 Apr 21;8(1):114. doi: 10.1038/s41597-021-00894-y.
- Lino Cardenas CL, Briere LC, Sweetser DA, Lindsay ME, Musolino PL. A seed sequence variant in miR-145-5p causes multisystem smooth muscle dysfunction syndrome. J Clin Invest. 2023 Mar 1;133(5):e166497. doi: 10.1172/JCI166497. No abstract available.
- Gu F, Wu A, Gordon MG, Vlahos L, Macnamara S, Burke E, Malicdan MC, Adams DR, Tifft CJ, Toro C, Gahl WA, Markello TC. A suite of automated sequence analyses reduces the number of candidate deleterious variants and reveals a difference between probands and unaffected siblings. Genet Med. 2019 Aug;21(8):1772-1780. doi: 10.1038/s41436-019-0434-0. Epub 2019 Jan 31.
- Chao HT, Davids M, Burke E, Pappas JG, Rosenfeld JA, McCarty AJ, Davis T, Wolfe L, Toro C, Tifft C, Xia F, Stong N, Johnson TK, Warr CG; Undiagnosed Diseases Network; Yamamoto S, Adams DR, Markello TC, Gahl WA, Bellen HJ, Wangler MF, Malicdan MCV. A Syndromic Neurodevelopmental Disorder Caused by De Novo Variants in EBF3. Am J Hum Genet. 2017 Jan 5;100(1):128-137. doi: 10.1016/j.ajhg.2016.11.018. Epub 2016 Dec 22.
- Spillmann RC, McConkie-Rosell A, Pena L, Jiang YH; Undiagnosed Diseases Network; Schoch K, Walley N, Sanders C, Sullivan J, Hooper SR, Shashi V. A window into living with an undiagnosed disease: illness narratives from the Undiagnosed Diseases Network. Orphanet J Rare Dis. 2017 Apr 17;12(1):71. doi: 10.1186/s13023-017-0623-3.
- Xiao C, Koziura M, Cope H, Spillman R, Tan K, Hisama FM, Tifft CJ, Toro C. Adults with lysosomal storage diseases in the undiagnosed diseases network. Mol Genet Genomic Med. 2022 Sep;10(9):e2013. doi: 10.1002/mgg3.2013. Epub 2022 Jul 18.
- Schoch K, Tan QK, Stong N, Deak KL, McConkie-Rosell A, McDonald MT; Undiagnosed Diseases Network; Goldstein DB, Jiang YH, Shashi V. Alternative transcripts in variant interpretation: the potential for missed diagnoses and misdiagnoses. Genet Med. 2020 Jul;22(7):1269-1275. doi: 10.1038/s41436-020-0781-x. Epub 2020 May 5.
- Haghighi A, Krier JB, Toth-Petroczy A, Cassa CA, Frank NY, Carmichael N, Fieg E, Bjonnes A, Mohanty A, Briere LC, Lincoln S, Lucia S, Gupta VA, Soylemez O, Sutti S, Kooshesh K, Qiu H, Fay CJ, Perroni V, Valerius J, Hanna M, Frank A, Ouahed J, Snapper SB, Pantazi A, Chopra SS, Leshchiner I, Stitziel NO, Feldweg A, Mannstadt M, Loscalzo J, Sweetser DA, Liao E, Stoler JM, Nowak CB, Sanchez-Lara PA, Klein OD, Perry H, Patsopoulos NA, Raychaudhuri S, Goessling W, Green RC, Seidman CE, MacRae CA, Sunyaev SR, Maas RL, Vuzman D; Undiagnosed Diseases Network, Brigham and Women's Hospital FaceBase Project, Brigham Genomic Medicine (BGM). An integrated clinical program and crowdsourcing strategy for genomic sequencing and Mendelian disease gene discovery. NPJ Genom Med. 2018 Aug 13;3:21. doi: 10.1038/s41525-018-0060-9. eCollection 2018.
- Machol K, Jankovic J, Vijayakumar D, Burrage LC, Jain M, Lewis RA, Fuller GN, Xu M, Penas-Prado M, Gule-Monroe MK, Rosenfeld JA, Chen R, Eng CM, Yang Y, Lee BH, Moretti PM; Undiagnosed Diseases Network; Dhar SU. Atypical Alexander disease with dystonia, retinopathy, and a brain mass mimicking astrocytoma. Neurol Genet. 2018 Jul 20;4(4):e248. doi: 10.1212/NXG.0000000000000248. eCollection 2018 Aug. No abstract available.
- Johnston JJ, van der Smagt JJ, Rosenfeld JA, Pagnamenta AT, Alswaid A, Baker EH, Blair E, Borck G, Brinkmann J, Craigen W, Dung VC, Emrick L, Everman DB, van Gassen KL, Gulsuner S, Harr MH, Jain M, Kuechler A, Leppig KA, McDonald-McGinn DM, Can NTB, Peleg A, Roeder ER, Rogers RC, Sagi-Dain L, Sapp JC, Schaffer AA, Schanze D, Stewart H, Taylor JC, Verbeek NE, Walkiewicz MA, Zackai EH, Zweier C; Members of the Undiagnosed Diseases Network; Zenker M, Lee B, Biesecker LG. Autosomal recessive Noonan syndrome associated with biallelic LZTR1 variants. Genet Med. 2018 Oct;20(10):1175-1185. doi: 10.1038/gim.2017.249. Epub 2018 Feb 22.
- Young JL, Halley MC, Anguiano B, Fernandez L, Bernstein JA, Wheeler MT, Tabor HK; Undiagnosed Diseases Network Consortium. Beyond race: Recruitment of diverse participants in clinical genomics research for rare disease. Front Genet. 2022 Aug 22;13:949422. doi: 10.3389/fgene.2022.949422. eCollection 2022.
- Morimoto M, Bhambhani V, Gazzaz N, Davids M, Sathiyaseelan P, Macnamara EF, Lange J, Lehman A, Zerfas PM, Murphy JL, Acosta MT, Wang C, Alderman E; Undiagnosed Diseases Network; Reichert S, Thurm A, Adams DR, Introne WJ, Gorski SM, Boerkoel CF, Gahl WA, Tifft CJ, Malicdan MCV. Bi-allelic ATG4D variants are associated with a neurodevelopmental disorder characterized by speech and motor impairment. NPJ Genom Med. 2023 Feb 10;8(1):4. doi: 10.1038/s41525-022-00343-8.
- Frost FG, Morimoto M, Sharma P, Ruaud L, Belnap N, Calame DG, Uchiyama Y, Matsumoto N, Oud MM, Ferreira EA, Narayanan V, Rangasamy S, Huentelman M, Emrick LT, Sato-Shirai I, Kumada S, Wolf NI, Steinbach PJ, Huang Y; Undiagnosed Diseases Network; Pusey BN, Passemard S, Levy J, Drunat S, Vincent M, Guet A, Agolini E, Novelli A, Digilio MC, Rosenfeld JA, Murphy JL, Lupski JR, Vezina G, Macnamara EF, Adams DR, Acosta MT, Tifft CJ, Gahl WA, Malicdan MCV. Bi-allelic SNAPC4 variants dysregulate global alternative splicing and lead to neuroregression and progressive spastic paraparesis. Am J Hum Genet. 2023 Apr 6;110(4):663-680. doi: 10.1016/j.ajhg.2023.03.001. Epub 2023 Mar 24.
- Stephen J, Maddirevula S, Nampoothiri S, Burke JD, Herzog M, Shukla A, Steindl K, Eskin A, Patil SJ, Joset P, Lee H, Garrett LJ, Yokoyama T, Balanda N, Bodine SP, Tolman NJ, Zerfas PM, Zheng A, Ramantani G, Girisha KM, Rivas C, Suresh PV, Elkahloun A, Alsaif HS, Wakil SM, Mahmoud L, Ali R, Prochazkova M; Undiagnosed Diseases Network members; Kulkarni AB, Ben-Omran T, Colak D, Morris HD, Rauch A, Martinez-Agosto JA, Nelson SF, Alkuraya FS, Gahl WA, Malicdan MCV. Bi-allelic TMEM94 Truncating Variants Are Associated with Neurodevelopmental Delay, Congenital Heart Defects, and Distinct Facial Dysmorphism. Am J Hum Genet. 2018 Dec 6;103(6):948-967. doi: 10.1016/j.ajhg.2018.11.001.
- Tepe B, Macke EL, Niceta M, Weisz Hubshman M, Kanca O, Schultz-Rogers L, Zarate YA, Schaefer GB, Granadillo De Luque JL, Wegner DJ, Cogne B, Gilbert-Dussardier B, Le Guillou X, Wagner EJ, Pais LS, Neil JE, Mochida GH, Walsh CA, Magal N, Drasinover V, Shohat M, Schwab T, Schmitz C, Clark K, Fine A, Lanpher B, Gavrilova R, Blanc P, Burglen L, Afenjar A, Steel D, Kurian MA, Prabhakar P, Gosswein S, Di Donato N, Bertini ES; Undiagnosed Diseases Network; Wangler MF, Yamamoto S, Tartaglia M, Klee EW, Bellen HJ. Bi-allelic variants in INTS11 are associated with a complex neurological disorder. Am J Hum Genet. 2023 May 4;110(5):774-789. doi: 10.1016/j.ajhg.2023.03.012. Epub 2023 Apr 12.
- Kurolap A, Kreuder F, Gonzaga-Jauregui C, Duvdevani MP, Harel T, Tammer L, Xin B, Bakhtiari S, Rice J, van Eyk CL, Gecz J, Mah JK, Atkinson D, Cope H, Sullivan JA, Douek AM, Colquhoun D, Henry J, Wlodkowic D, Parman Y, Candayan A, Kocasoy-Orhan E, Ilivitzki A, Soudry S, Leibu R, Glaser F, Sency V; Undiagnosed Diseases Network; Ast G, Shashi V, Fahey MC, Battaloglu E, Jordanova A, Meiner V, Innes AM, Wang H, Elpeleg O, Kruer MC, Kaslin J, Baris Feldman H. Bi-allelic variants in neuronal cell adhesion molecule cause a neurodevelopmental disorder characterized by developmental delay, hypotonia, neuropathy/spasticity. Am J Hum Genet. 2022 Mar 3;109(3):518-532. doi: 10.1016/j.ajhg.2022.01.004. Epub 2022 Feb 1.
- Burrage LC, Reynolds JJ, Baratang NV, Phillips JB, Wegner J, McFarquhar A, Higgs MR, Christiansen AE, Lanza DG, Seavitt JR, Jain M, Li X, Parry DA, Raman V, Chitayat D, Chinn IK, Bertuch AA, Karaviti L, Schlesinger AE, Earl D, Bamshad M, Savarirayan R, Doddapaneni H, Muzny D, Jhangiani SN, Eng CM, Gibbs RA, Bi W, Emrick L, Rosenfeld JA, Postlethwait J, Westerfield M, Dickinson ME, Beaudet AL, Ranza E, Huber C, Cormier-Daire V, Shen W, Mao R, Heaney JD, Orange JS; University of Washington Center for Mendelian Genomics; Undiagnosed Diseases Network; Bertola D, Yamamoto GL, Baratela WAR, Butler MG, Ali A, Adeli M, Cohn DH, Krakow D, Jackson AP, Lees M, Offiah AC, Carlston CM, Carey JC, Stewart GS, Bacino CA, Campeau PM, Lee B. Bi-allelic Variants in TONSL Cause SPONASTRIME Dysplasia and a Spectrum of Skeletal Dysplasia Phenotypes. Am J Hum Genet. 2019 Mar 7;104(3):422-438. doi: 10.1016/j.ajhg.2019.01.007. Epub 2019 Feb 14.
- Jeffries L, Mis EK, McWalter K, Donkervoort S, Brodsky NN, Carpier JM, Ji W, Ionita C, Roy B, Morrow JS, Darbinyan A, Iyer K, Aul RB, Banka S, Chao KR, Cobbold L, Cohen S, Custodio HM, Drummond-Borg M, Elmslie F, Finanger E, Hainline BE, Helbig I, Hewson S, Hu Y, Jackson A, Josifova D, Konstantino M, Leach ME, Mak B, McCormick D, McGee E, Nelson S, Nguyen J, Nugent K, Ortega L, Goodkin HP, Roeder E, Roy S, Sapp K, Saade D, Sisodiya SM, Stals K, Towner S, Wilson W; Deciphering Developmental Disorders; Genomics England Research Consortium; Undiagnosed Disease Network; Khokha MK, Bonnemann CG, Lucas CL, Lakhani SA. Biallelic CRELD1 variants cause a multisystem syndrome, including neurodevelopmental phenotypes, cardiac dysrhythmias, and frequent infections. Genet Med. 2024 Feb;26(2):101023. doi: 10.1016/j.gim.2023.101023. Epub 2023 Nov 7.
- Schneeberger PE, Kortum F, Korenke GC, Alawi M, Santer R, Woidy M, Buhas D, Fox S, Juusola J, Alfadhel M, Webb BD, Coci EG, Abou Jamra R, Siekmeyer M, Biskup S, Heller C, Maier EM, Javaher-Haghighi P, Bedeschi MF, Ajmone PF, Iascone M, Peeters H, Ballon K, Jaeken J, Rodriguez Alonso A, Palomares-Bralo M, Santos-Simarro F, Meuwissen MEC, Beysen D, Kooy RF, Houlden H, Murphy D, Doosti M, Karimiani EG, Mojarrad M, Maroofian R, Noskova L, Kmoch S, Honzik T, Cope H, Sanchez-Valle A; Undiagnosed Diseases Network; Gelb BD, Kurth I, Hempel M, Kutsche K. Biallelic MADD variants cause a phenotypic spectrum ranging from developmental delay to a multisystem disorder. Brain. 2020 Aug 1;143(8):2437-2453. doi: 10.1093/brain/awaa204.
- Olahova M, Yoon WH, Thompson K, Jangam S, Fernandez L, Davidson JM, Kyle JE, Grove ME, Fisk DG, Kohler JN, Holmes M, Dries AM, Huang Y, Zhao C, Contrepois K, Zappala Z, Fresard L, Waggott D, Zink EM, Kim YM, Heyman HM, Stratton KG, Webb-Robertson BM; Undiagnosed Diseases Network; Snyder M, Merker JD, Montgomery SB, Fisher PG, Feichtinger RG, Mayr JA, Hall J, Barbosa IA, Simpson MA, Deshpande C, Waters KM, Koeller DM, Metz TO, Morris AA, Schelley S, Cowan T, Friederich MW, McFarland R, Van Hove JLK, Enns GM, Yamamoto S, Ashley EA, Wangler MF, Taylor RW, Bellen HJ, Bernstein JA, Wheeler MT. Biallelic Mutations in ATP5F1D, which Encodes a Subunit of ATP Synthase, Cause a Metabolic Disorder. Am J Hum Genet. 2018 Mar 1;102(3):494-504. doi: 10.1016/j.ajhg.2018.01.020. Epub 2018 Feb 22.
- Shashi V, Schoch K, Ganetzky R, Kranz PG, Sondheimer N, Markert ML, Cope H, Sadeghpour A, Roehrs P, Arbogast T, Muraresku C; Undiagnosed Diseases Network; Tyndall AV, Esser MJ, Woodward KE, Ping-Yee Au B, Parboosingh JS, Lamont RE, Bernier FP, Wright NAM, Benseler SM, Parsons SJ, El-Dairi M, Smith EC, Valdez P, Tennison M, Innes AM, Davis EE. Biallelic variants in ribonuclease inhibitor (RNH1), an inflammasome modulator, are associated with a distinctive subtype of acute, necrotizing encephalopathy. Genet Med. 2023 Sep;25(9):100897. doi: 10.1016/j.gim.2023.100897. Epub 2023 May 13.
- Barish S, Barakat TS, Michel BC, Mashtalir N, Phillips JB, Valencia AM, Ugur B, Wegner J, Scott TM, Bostwick B; Undiagnosed Diseases Network; Murdock DR, Dai H, Perenthaler E, Nikoncuk A, van Slegtenhorst M, Brooks AS, Keren B, Nava C, Mignot C, Douglas J, Rodan L, Nowak C, Ellard S, Stals K, Lynch SA, Faoucher M, Lesca G, Edery P, Engleman KL, Zhou D, Thiffault I, Herriges J, Gass J, Louie RJ, Stolerman E, Washington C, Vetrini F, Otsubo A, Pratt VM, Conboy E, Treat K, Shannon N, Camacho J, Wakeling E, Yuan B, Chen CA, Rosenfeld JA, Westerfield M, Wangler M, Yamamoto S, Kadoch C, Scott DA, Bellen HJ. BICRA, a SWI/SNF Complex Member, Is Associated with BAF-Disorder Related Phenotypes in Humans and Model Organisms. Am J Hum Genet. 2020 Dec 3;107(6):1096-1112. doi: 10.1016/j.ajhg.2020.11.003. Epub 2020 Nov 23.
- Walley NM, Pena LDM, Hooper SR, Cope H, Jiang YH, McConkie-Rosell A, Sanders C, Schoch K, Spillmann RC, Strong K, McCray AT, Mazur P, Esteves C, LeBlanc K; Undiagnosed Diseases Network; Wise AL, Shashi V. Characteristics of undiagnosed diseases network applicants: implications for referring providers. BMC Health Serv Res. 2018 Aug 22;18(1):652. doi: 10.1186/s12913-018-3458-2.
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- Shibao CA, Joos K, Phillips JA 3rd, Cogan J, Newman JH, Hamid R, Meiler J, Capra J, Sheehan J, Vetrini F, Yang Y, Black B, Diedrich A, Roberston D, Biaggioni I. Familial Autonomic Ganglionopathy Caused by Rare CHRNA3 Genetic Variants. Neurology. 2021 Jul 13;97(2):e145-e155. doi: 10.1212/WNL.0000000000012143. Epub 2021 May 4.
- Yates J, Gutierrez-Sacristan A, Jouhet V, LeBlanc K, Esteves C; Undiagnosed Diseases Network; DeSain TN, Benik N, Stedman J, Palmer N, Mellon G, Kohane I, Avillach P. Finding commonalities in rare diseases through the undiagnosed diseases network. J Am Med Inform Assoc. 2021 Jul 30;28(8):1694-1702. doi: 10.1093/jamia/ocab050.
- Stergachis AB, Blue EE, Gillentine MA, Wang LK, Schwarze U, Cortes AS, Ranchalis J, Allworth A, Bland AE, Chanprasert S, Chen J, Doherty D, Folta AB, Glass I, Horike-Pyne M, Huang AY, Khan AT, Leppig KA, Miller DE, Mirzaa G, Parhin A, Raskind W, Rosenthal EA, Sheppeard S, Strohbehn S, Sybert VP, Tran TT, Wener M; University of Washington Center for Mendelian Genomics (UW-CMG), Undiagnosed Diseases Network (UDN); Byers PH, Nelson SF, Bamshad MJ, Dipple KM, Jarvik GP, Hoppins S, Hisama FM. Full-length isoform sequencing for resolving the molecular basis of Charcot-Marie-Tooth 2A. bioRxiv [Preprint]. 2023 Feb 7:2023.02.07.526487. doi: 10.1101/2023.02.07.526487.
- Boulin T, Itani O, El Mouridi S, Leclercq-Blondel A, Gendrel M, Macnamara E, Soldatos A, Murphy JL, Gorman MP, Lindsey A, Shimada S, Turner D, Silverman GA, Baldridge D; Undiagnosed Diseases Network; Malicdan MC, Schedl T, Pak SC. Functional analysis of a de novo variant in the neurodevelopment and generalized epilepsy disease gene NBEA. Mol Genet Metab. 2021 Sep-Oct;134(1-2):195-202. doi: 10.1016/j.ymgme.2021.07.013. Epub 2021 Aug 9.
- Fielder SM, Rosenfeld JA, Burrage LC, Emrick L, Lalani S, Attali R, Bembenek JN, Hoang H, Baldridge D, Silverman GA; Undiagnosed Diseases Network; Schedl T, Pak SC. Functional analysis of a novel de novo variant in PPP5C associated with microcephaly, seizures, and developmental delay. Mol Genet Metab. 2022 May;136(1):65-73. doi: 10.1016/j.ymgme.2022.03.007. Epub 2022 Mar 22.
- Liu N, Schoch K, Luo X, Pena LDM, Bhavana VH, Kukolich MK, Stringer S, Powis Z, Radtke K, Mroske C, Deak KL, McDonald MT, McConkie-Rosell A, Markert ML, Kranz PG, Stong N, Need AC, Bick D, Amaral MD, Worthey EA, Levy S; Undiagnosed Diseases Network (UDN); Wangler MF, Bellen HJ, Shashi V, Yamamoto S. Functional variants in TBX2 are associated with a syndromic cardiovascular and skeletal developmental disorder. Hum Mol Genet. 2018 Jul 15;27(14):2454-2465. doi: 10.1093/hmg/ddy146.
- Tan QK, Cope H, Spillmann RC, Stong N, Jiang YH, McDonald MT, Rothman JA, Butler MW, Frush DP, Lachman RS, Lee B, Bacino CA, Bonner MJ, McCall CM, Pendse AA, Walley N; Undiagnosed Diseases Network; Shashi V, Pena LDM. Further evidence for the involvement of EFL1 in a Shwachman-Diamond-like syndrome and expansion of the phenotypic features. Cold Spring Harb Mol Case Stud. 2018 Oct 1;4(5):a003046. doi: 10.1101/mcs.a003046. Print 2018 Oct.
- Kozycki CT, Kodati S, Huryn L, Wang H, Warner BM, Jani P, Hammoud D, Abu-Asab MS, Jittayasothorn Y, Mattapallil MJ, Tsai WL, Ullah E, Zhou P, Tian X, Soldatos A, Moutsopoulos N, Kao-Hsieh M, Heller T, Cowen EW, Lee CR, Toro C, Kalsi S, Khavandgar Z, Baer A, Beach M, Long Priel D, Nehrebecky M, Rosenzweig S, Romeo T, Deuitch N, Brenchley L, Pelayo E, Zein W, Sen N, Yang AH, Farley G, Sweetser DA, Briere L, Yang J, de Oliveira Poswar F, Schwartz IVD, Silva Alves T, Dusser P, Kone-Paut I, Touitou I, Titah SM, van Hagen PM, van Wijck RTA, van der Spek PJ, Yano H, Benneche A, Apalset EM, Jansson RW, Caspi RR, Kuhns DB, Gadina M, Takada H, Ida H, Nishikomori R, Verrecchia E, Sangiorgi E, Manna R, Brooks BP, Sobrin L, Hufnagel RB, Beck D, Shao F, Ombrello AK, Aksentijevich I, Kastner DL; Undiagnosed Diseases Network. Gain-of-function mutations in ALPK1 cause an NF-kappaB-mediated autoinflammatory disease: functional assessment, clinical phenotyping and disease course of patients with ROSAH syndrome. Ann Rheum Dis. 2022 Oct;81(10):1453-1464. doi: 10.1136/annrheumdis-2022-222629. Epub 2022 Jul 22.
- Sharma R, Sahoo SS, Honda M, Granger SL, Goodings C, Sanchez L, Kunstner A, Busch H, Beier F, Pruett-Miller SM, Valentine MB, Fernandez AG, Chang TC, Geli V, Churikov D, Hirschi S, Pastor VB, Boerries M, Lauten M, Kelaidi C, Cooper MA, Nicholas S, Rosenfeld JA, Polychronopoulou S, Kannengiesser C, Saintome C, Niemeyer CM, Revy P, Wold MS, Spies M, Erlacher M, Coulon S, Wlodarski MW. Gain-of-function mutations in RPA1 cause a syndrome with short telomeres and somatic genetic rescue. Blood. 2022 Feb 17;139(7):1039-1051. doi: 10.1182/blood.2021011980.
- Scala M, Bradley CA, Howe JL, Trost B, Salazar NB, Shum C, Reuter MS, MacDonald JR, Ko SY, Frankland PW, Granger L, Anadiotis G, Pullano V, Brusco A, Keller R, Parisotto S, Pedro HF, Lusk L, McDonnell PP, Helbig I, Mullegama SV; Undiagnosed Diseases Network; Douine ED, Russell BE, Nelson SF, Zara F, Scherer SW. Genetic variants in DDX53 contribute to Autism Spectrum Disorder associated with the Xp22.11 locus. medRxiv [Preprint]. 2023 Dec 27:2023.12.21.23300383. doi: 10.1101/2023.12.21.23300383.
- Borja N, Bivona S, Peart LS, Johnson B, Gonzalez J, Barbouth D, Moore H, Guo S; Undiagnosed Disease Network; Bademci G, Tekin M. Genome sequencing reveals novel noncoding variants in PLA2G6 and LMNB1 causing progressive neurologic disease. Mol Genet Genomic Med. 2022 Apr;10(4):e1892. doi: 10.1002/mgg3.1892. Epub 2022 Mar 5.
- Halley MC, Young JL, Tang C, Mintz KT, Lucas-Griffin S, Maghiro A, Ashley EA, Tabor HK; Undiagnosed Diseases Network. Genomics Research with Undiagnosed Children: Ethical Challenges at the Boundaries of Research and Clinical Care. J Pediatr. 2023 Oct;261:113537. doi: 10.1016/j.jpeds.2023.113537. Epub 2023 Jun 2.
- Jordan VK, Fregeau B, Ge X, Giordano J, Wapner RJ, Balci TB, Carter MT, Bernat JA, Moccia AN, Srivastava A, Martin DM, Bielas SL, Pappas J, Svoboda MD, Rio M, Boddaert N, Cantagrel V, Lewis AM, Scaglia F; Undiagnosed Diseases Network; Kohler JN, Bernstein JA, Dries AM, Rosenfeld JA, DeFilippo C, Thorson W, Yang Y, Sherr EH, Bi W, Scott DA. Genotype-phenotype correlations in individuals with pathogenic RERE variants. Hum Mutat. 2018 May;39(5):666-675. doi: 10.1002/humu.23400. Epub 2018 Jan 25.
- Borja N, Borjas-Mendoza P, Bivona S, Peart L, Gonzalez J, Johnson BK, Guo S, Yusupov R; Undiagnosed Diseases Network; Bademci G, Tekin M. H4C5 missense variant leads to a neurodevelopmental phenotype overlapping with Angelman syndrome. Am J Med Genet A. 2023 Jul;191(7):1911-1916. doi: 10.1002/ajmg.a.63193. Epub 2023 Mar 29.
- Bosticardo M, Yamazaki Y, Cowan J, Giardino G, Corsino C, Scalia G, Prencipe R, Ruffner M, Hill DA, Sakovich I, Yemialyanava I, Tam JS, Padem N, Elder ME, Sleasman JW, Perez E, Niebur H, Seroogy CM, Sharapova S, Gebbia J, Kleiner GI, Peake J, Abbott JK, Gelfand EW, Crestani E, Biggs C, Butte MJ, Hartog N, Hayward A, Chen K, Heimall J, Seeborg F, Bartnikas LM, Cooper MA, Pignata C, Bhandoola A, Notarangelo LD. Heterozygous FOXN1 Variants Cause Low TRECs and Severe T Cell Lymphopenia, Revealing a Crucial Role of FOXN1 in Supporting Early Thymopoiesis. Am J Hum Genet. 2019 Sep 5;105(3):549-561. doi: 10.1016/j.ajhg.2019.07.014. Epub 2019 Aug 22.
- Ravenscroft TA, Phillips JB, Fieg E, Bajikar SS, Peirce J, Wegner J, Luna AA, Fox EJ, Yan YL, Rosenfeld JA, Zirin J, Kanca O; Undiagnosed Diseases Network; Benke PJ, Cameron ES, Strehlow V, Platzer K, Jamra RA, Klockner C, Osmond M, Licata T, Rojas S, Dyment D, Chong JSC, Lincoln S, Stoler JM, Postlethwait JH, Wangler MF, Yamamoto S, Krier J, Westerfield M, Bellen HJ. Heterozygous loss-of-function variants significantly expand the phenotypes associated with loss of GDF11. Genet Med. 2021 Oct;23(10):1889-1900. doi: 10.1038/s41436-021-01216-8. Epub 2021 Jun 10.
- Ganapathi M, Matsuoka LS, March M, Li D, Brokamp E, Benito-Sanz S, White SM, Lachlan K, Ahimaz P, Sewda A, Bastarache L, Thomas-Wilson A, Stoler JM, Bramswig NC, Baptista J, Stals K, Demurger F, Cogne B, Isidor B, Bedeschi MF, Peron A, Amiel J, Zackai E, Schacht JP, Iglesias AD, Morton J, Schmetz A; Undiagnosed Diseases Network; Seidel V, Lucia S, Baskin SM, Thiffault I, Cogan JD, Gordon CT, Chung WK, Bowdin S, Bhoj E. Heterozygous rare variants in NR2F2 cause a recognizable multiple congenital anomaly syndrome with developmental delays. Eur J Hum Genet. 2023 Oct;31(10):1117-1124. doi: 10.1038/s41431-023-01434-5. Epub 2023 Jul 27.
- Poli MC, Ebstein F, Nicholas SK, de Guzman MM, Forbes LR, Chinn IK, Mace EM, Vogel TP, Carisey AF, Benavides F, Coban-Akdemir ZH, Gibbs RA, Jhangiani SN, Muzny DM, Carvalho CMB, Schady DA, Jain M, Rosenfeld JA, Emrick L, Lewis RA, Lee B; Undiagnosed Diseases Network members; Zieba BA, Kury S, Kruger E, Lupski JR, Bostwick BL, Orange JS. Heterozygous Truncating Variants in POMP Escape Nonsense-Mediated Decay and Cause a Unique Immune Dysregulatory Syndrome. Am J Hum Genet. 2018 Jun 7;102(6):1126-1142. doi: 10.1016/j.ajhg.2018.04.010. Epub 2018 May 24.
- Shashi V, Geist J, Lee Y, Yoo Y, Shin U, Schoch K, Sullivan J, Stong N, Smith E, Jasien J, Kranz P; Undiagnosed Diseases Network; Lee Y, Shin YB, Wright NT, Choi M, Kontrogianni-Konstantopoulos A. Heterozygous variants in MYBPC1 are associated with an expanded neuromuscular phenotype beyond arthrogryposis. Hum Mutat. 2019 Aug;40(8):1115-1126. doi: 10.1002/humu.23760. Epub 2019 May 5.
- Mueller AA, Sasaki T, Keegan JW, Nguyen JP, Griffith A, Horisberger AM, Licata T, Fieg E, Cao Y, Elahee M, Marks KE, Simmons DP, Briere LC, Cobban LA, Pallais JC, High FA, Walker MA, Linnoila JJ, Sparks JA, Holers VM, Costenbader KH; Undiagnosed Diseases Network; Sweetser DA, Krier JB, Loscalzo J, Lederer JA, Rao DA. High-dimensional immunophenotyping reveals immune cell aberrations in patients with undiagnosed inflammatory and autoimmune diseases. J Clin Invest. 2023 Dec 15;133(24):e169619. doi: 10.1172/JCI169619. No abstract available.
- Bryant L, Li D, Cox SG, Marchione D, Joiner EF, Wilson K, Janssen K, Lee P, March ME, Nair D, Sherr E, Fregeau B, Wierenga KJ, Wadley A, Mancini GMS, Powell-Hamilton N, van de Kamp J, Grebe T, Dean J, Ross A, Crawford HP, Powis Z, Cho MT, Willing MC, Manwaring L, Schot R, Nava C, Afenjar A, Lessel D, Wagner M, Klopstock T, Winkelmann J, Catarino CB, Retterer K, Schuette JL, Innis JW, Pizzino A, Luttgen S, Denecke J, Strom TM, Monaghan KG; DDD Study; Yuan ZF, Dubbs H, Bend R, Lee JA, Lyons MJ, Hoefele J, Gunthner R, Reutter H, Keren B, Radtke K, Sherbini O, Mrokse C, Helbig KL, Odent S, Cogne B, Mercier S, Bezieau S, Besnard T, Kury S, Redon R, Reinson K, Wojcik MH, Ounap K, Ilves P, Innes AM, Kernohan KD; Care4Rare Canada Consortium; Costain G, Meyn MS, Chitayat D, Zackai E, Lehman A, Kitson H; CAUSES Study; Martin MG, Martinez-Agosto JA; Undiagnosed Diseases Network; Nelson SF, Palmer CGS, Papp JC, Parker NH, Sinsheimer JS, Vilain E, Wan J, Yoon AJ, Zheng A, Brimble E, Ferrero GB, Radio FC, Carli D, Barresi S, Brusco A, Tartaglia M, Thomas JM, Umana L, Weiss MM, Gotway G, Stuurman KE, Thompson ML, McWalter K, Stumpel CTRM, Stevens SJC, Stegmann APA, Tveten K, Vollo A, Prescott T, Fagerberg C, Laulund LW, Larsen MJ, Byler M, Lebel RR, Hurst AC, Dean J, Schrier Vergano SA, Norman J, Mercimek-Andrews S, Neira J, Van Allen MI, Longo N, Sellars E, Louie RJ, Cathey SS, Brokamp E, Heron D, Snyder M, Vanderver A, Simon C, de la Cruz X, Padilla N, Crump JG, Chung W, Garcia B, Hakonarson HH, Bhoj EJ. Histone H3.3 beyond cancer: Germline mutations in Histone 3 Family 3A and 3B cause a previously unidentified neurodegenerative disorder in 46 patients. Sci Adv. 2020 Dec 2;6(49):eabc9207. doi: 10.1126/sciadv.abc9207. Print 2020 Dec.
- Niggl E, Bouman A, Briere LC, Hoogenboezem RM, Wallaard I, Park J, Admard J, Wilke M, Harris-Mostert EDRO, Elgersma M, Bain J, Balasubramanian M, Banka S, Benke PJ, Bertrand M, Blesson AE, Clayton-Smith J, Ellingford JM, Gillentine MA, Goodloe DH, Haack TB, Jain M, Krantz I, Luu SM, McPheron M, Muss CL, Raible SE, Robin NH, Spiller M, Starling S, Sweetser DA, Thiffault I, Vetrini F, Witt D, Woods E, Zhou D; Genomics England Research Consortium; Undiagnosed Diseases Network; Elgersma Y, van Esbroeck ACM. HNRNPC haploinsufficiency affects alternative splicing of intellectual disability-associated genes and causes a neurodevelopmental disorder. Am J Hum Genet. 2023 Aug 3;110(8):1414-1435. doi: 10.1016/j.ajhg.2023.07.005.
- Davids M, Menezes M, Guo Y, McLean SD, Hakonarson H, Collins F, Worgan L, Billington CJ Jr, Maric I, Littlejohn RO, Onyekweli T, Members Of The Udn, Adams DR, Tifft CJ, Gahl WA, Wolfe LA, Christodoulou J, Malicdan MCV. Homozygous splice-variants in human ARV1 cause GPI-anchor synthesis deficiency. Mol Genet Metab. 2020 May;130(1):49-57. doi: 10.1016/j.ymgme.2020.02.005. Epub 2020 Feb 10.
- Bonder MJ, Smail C, Gloudemans MJ, Fresard L, Jakubosky D, D'Antonio M, Li X, Ferraro NM, Carcamo-Orive I, Mirauta B, Seaton DD, Cai N, Vakili D, Horta D, Zhao C, Zastrow DB, Bonner DE; HipSci Consortium; iPSCORE consortium; Undiagnosed Diseases Network; PhLiPS consortium; Wheeler MT, Kilpinen H, Knowles JW, Smith EN, Frazer KA, Montgomery SB, Stegle O. Identification of rare and common regulatory variants in pluripotent cells using population-scale transcriptomics. Nat Genet. 2021 Mar;53(3):313-321. doi: 10.1038/s41588-021-00800-7. Epub 2021 Mar 4.
- Fresard L, Smail C, Ferraro NM, Teran NA, Li X, Smith KS, Bonner D, Kernohan KD, Marwaha S, Zappala Z, Balliu B, Davis JR, Liu B, Prybol CJ, Kohler JN, Zastrow DB, Reuter CM, Fisk DG, Grove ME, Davidson JM, Hartley T, Joshi R, Strober BJ, Utiramerur S; Undiagnosed Diseases Network; Care4Rare Canada Consortium; Lind L, Ingelsson E, Battle A, Bejerano G, Bernstein JA, Ashley EA, Boycott KM, Merker JD, Wheeler MT, Montgomery SB. Identification of rare-disease genes using blood transcriptome sequencing and large control cohorts. Nat Med. 2019 Jun;25(6):911-919. doi: 10.1038/s41591-019-0457-8. Epub 2019 Jun 3.
- Mukherjee S, Cogan JD, Newman JH, Phillips JA 3rd, Hamid R; Undiagnosed Diseases Network; Meiler J, Capra JA. Identifying digenic disease genes via machine learning in the Undiagnosed Diseases Network. Am J Hum Genet. 2021 Oct 7;108(10):1946-1963. doi: 10.1016/j.ajhg.2021.08.010. Epub 2021 Sep 15.
- Newman JH, Shaver A, Sheehan JH, Mallal S, Stone JH, Pillai S, Bastarache L, Riebau D, Allard-Chamard H, Stone WM, Perugino C, Pilkinton M, Smith SA, McDonnell WJ, Capra JA, Meiler J, Cogan J, Xing K, Mahajan VS, Mattoo H, Hamid R, Phillips JA 3rd; Undiagnosed Disease Network. IgG4-related disease: Association with a rare gene variant expressed in cytotoxic T cells. Mol Genet Genomic Med. 2019 Jun;7(6):e686. doi: 10.1002/mgg3.686. Epub 2019 Apr 16.
- Ungar RA, Goddard PC, Jensen TD, Degalez F, Smith KS, Jin CA; Undiagnosed Diseases Network; Bonner DE, Bernstein JA, Wheeler MT, Montgomery SB. Impact of genome build on RNA-seq interpretation and diagnostics. medRxiv [Preprint]. 2024 Jan 12:2024.01.11.24301165. doi: 10.1101/2024.01.11.24301165.
- Splinter K, Hull SC, Holm IA, McDonough TL, Wise AL, Ramoni RB; Members of the Undiagnosed Diseases Network. Implementing the Single Institutional Review Board Model: Lessons from the Undiagnosed Diseases Network. Clin Transl Sci. 2018 Jan;11(1):28-31. doi: 10.1111/cts.12512. Epub 2017 Oct 23. No abstract available.
- Harnish JM, Deal SL, Chao HT, Wangler MF, Yamamoto S. In Vivo Functional Study of Disease-associated Rare Human Variants Using Drosophila. J Vis Exp. 2019 Aug 20;(150):10.3791/59658. doi: 10.3791/59658.
- Kilich G, Hassey K, Behrens EM, Falk M, Vanderver A, Rader DJ, Cahill PJ, Raper A, Zhang Z, Westerfer D, Jadhav T, Conlin L, Izumi K, Rajagopalan R, Sullivan KE; UDN Consortium. Kagami Ogata syndrome: a small deletion refines critical region for imprinting. NPJ Genom Med. 2024 Jan 11;9(1):5. doi: 10.1038/s41525-023-00389-2.
- Macnamara EF, Koehler AE, D'Souza P, Estwick T, Lee P, Vezina G; Undiagnosed Diseases Network; Fauni H, Braddock SR, Torti E, Holt JM, Sharma P, Malicdan MCV, Tifft CJ. Kilquist syndrome: A novel syndromic hearing loss disorder caused by homozygous deletion of SLC12A2. Hum Mutat. 2019 May;40(5):532-538. doi: 10.1002/humu.23722. Epub 2019 Mar 12.
- Cif L, Demailly D, Lin JP, Barwick KE, Sa M, Abela L, Malhotra S, Chong WK, Steel D, Sanchis-Juan A, Ngoh A, Trump N, Meyer E, Vasques X, Rankin J, Allain MW, Applegate CD, Attaripour Isfahani S, Baleine J, Balint B, Bassetti JA, Baple EL, Bhatia KP, Blanchet C, Burglen L, Cambonie G, Seng EC, Bastaraud SC, Cyprien F, Coubes C, d'Hardemare V; Deciphering Developmental Disorders Study; Doja A, Dorison N, Doummar D, Dy-Hollins ME, Farrelly E, Fitzpatrick DR, Fearon C, Fieg EL, Fogel BL, Forman EB, Fox RG; Genomics England Research Consortium; Gahl WA, Galosi S, Gonzalez V, Graves TD, Gregory A, Hallett M, Hasegawa H, Hayflick SJ, Hamosh A, Hully M, Jansen S, Jeong SY, Krier JB, Krystal S, Kumar KR, Laurencin C, Lee H, Lesca G, Francois LL, Lynch T, Mahant N, Martinez-Agosto JA, Milesi C, Mills KA, Mondain M, Morales-Briceno H; NIHR BioResource; Ostergaard JR, Pal S, Pallais JC, Pavillard F, Perrigault PF, Petersen AK, Polo G, Poulen G, Rinne T, Roujeau T, Rogers C, Roubertie A, Sahagian M, Schaefer E, Selim L, Selway R, Sharma N, Signer R, Soldatos AG, Stevenson DA, Stewart F, Tchan M; Undiagnosed Diseases Network; Verma IC, de Vries BBA, Wilson JL, Wong DA, Zaitoun R, Zhen D, Znaczko A, Dale RC, de Gusmao CM, Friedman J, Fung VSC, King MD, Mohammad SS, Rohena L, Waugh JL, Toro C, Raymond FL, Topf M, Coubes P, Gorman KM, Kurian MA. KMT2B-related disorders: expansion of the phenotypic spectrum and long-term efficacy of deep brain stimulation. Brain. 2020 Dec 5;143(11):3242-3261. doi: 10.1093/brain/awaa304.
- Burdick KJ, Cogan JD, Rives LC, Robertson AK, Koziura ME, Brokamp E, Duncan L, Hannig V, Pfotenhauer J, Vanzo R, Paul MS, Bican A, Morgan T, Duis J, Newman JH, Hamid R, Phillips JA 3rd; Undiagnosed Diseases Network. Limitations of exome sequencing in detecting rare and undiagnosed diseases. Am J Med Genet A. 2020 Jun;182(6):1400-1406. doi: 10.1002/ajmg.a.61558. Epub 2020 Mar 19.
- Beck DB, Basar MA, Asmar AJ, Thompson JJ, Oda H, Uehara DT, Saida K, Pajusalu S, Talvik I, D'Souza P, Bodurtha J, Mu W, Baranano KW, Miyake N, Wang R, Kempers M, Tamada T, Nishimura Y, Okada S, Kosho T, Dale R, Mitra A, Macnamara E; Undiagnosed Diseases Network; Matsumoto N, Inazawa J, Walkiewicz M, Ounap K, Tifft CJ, Aksentijevich I, Kastner DL, Rocha PP, Werner A. Linkage-specific deubiquitylation by OTUD5 defines an embryonic pathway intolerant to genomic variation. Sci Adv. 2021 Jan 20;7(4):eabe2116. doi: 10.1126/sciadv.abe2116. Print 2021 Jan.
- Pena LDM, Jiang YH, Schoch K, Spillmann RC, Walley N, Stong N, Rapisardo Horn S, Sullivan JA, McConkie-Rosell A, Kansagra S, Smith EC, El-Dairi M, Bellet J, Keels MA, Jasien J, Kranz PG, Noel R, Nagaraj SK, Lark RK, Wechsler DSG, Del Gaudio D, Leung ML, Hendon LG, Parker CC, Jones KL; Undiagnosed Diseases Network Members; Goldstein DB, Shashi V. Looking beyond the exome: a phenotype-first approach to molecular diagnostic resolution in rare and undiagnosed diseases. Genet Med. 2018 Apr;20(4):464-469. doi: 10.1038/gim.2017.128. Epub 2017 Sep 14.
- Marcogliese PC, Dutta D, Ray SS, Dang NDP, Zuo Z, Wang Y, Lu D, Fazal F, Ravenscroft TA, Chung H, Kanca O, Wan J, Douine ED, Network UD, Pena LDM, Yamamoto S, Nelson SF, Might M, Meyer KC, Yeo NC, Bellen HJ. Loss of IRF2BPL impairs neuronal maintenance through excess Wnt signaling. Sci Adv. 2022 Jan 21;8(3):eabl5613. doi: 10.1126/sciadv.abl5613. Epub 2022 Jan 19.
- Accogli A, Lu S, Musante I, Scudieri P, Rosenfeld JA, Severino M, Baldassari S, Iacomino M, Riva A, Balagura G, Piccolo G, Minetti C, Roberto D, Xia F, Razak R, Lawrence E, Hussein M, Chang EY, Holick M, Cali E, Aliberto E, De-Sarro R, Gambardella A, Network UD, Group SS, Emrick L, McCaffery PJA, Clagett-Dame M, Marcogliese PC, Bellen HJ, Lalani SR, Zara F, Striano P, Salpietro V. Loss of Neuron Navigator 2 Impairs Brain and Cerebellar Development. Cerebellum. 2023 Apr;22(2):206-222. doi: 10.1007/s12311-022-01379-3. Epub 2022 Feb 26.
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- Mohajeri A, Vaseghi-Shanjani M, Rosenfeld JA, Yang GX, Lu H, Sharma M, Lin S, Salman A, Waqas M, Sababi Azamian M, Worley KC, Del Bel KL, Kozak FK, Rahmanian R, Biggs CM, Hildebrand KJ, Lalani SR, Nicholas SK, Scott DA, Mostafavi S, van Karnebeek C, Henkelman E, Halparin J, Yang CL, Armstrong L; Undiagnosed Diseases Network; Care4Rare Canada Consortium; Turvey SE, Lehman A. Dominant negative variants in IKZF2 cause ICHAD syndrome, a new disorder characterised by immunodysregulation, craniofacial anomalies, hearing impairment, athelia and developmental delay. J Med Genet. 2023 Nov;60(11):1092-1104. doi: 10.1136/jmg-2022-109127. Epub 2023 Jun 14.
- Chong SC, Cao Y, Fung ELW, Kleppe S, Gripp KW, Hertecant J, El-Hattab AW, Suleiman J, Clark G, von Allmen G, Rodziyevska O, Lewis RA, Rosenfeld JA, Dong J; Undiagnosed Diseases Network; Wang X, Miller MJ, Bi W, Liu P, Scaglia F. Expansion of the clinical and molecular spectrum of WWOX-related epileptic encephalopathy. Am J Med Genet A. 2023 Mar;191(3):776-785. doi: 10.1002/ajmg.a.63074. Epub 2022 Dec 19.
- Chen YH, Zastrow DB, Metcalfe RD, Gartner L, Krause F, Morton CJ, Marwaha S, Fresard L, Huang Y, Zhao C, McCormack C, Bick D, Worthey EA, Eng CM, Gold J, Undiagnosed Diseases Network, Montgomery SB, Fisher PG, Ashley EA, Wheeler MT, Parker MW, Shanmugasundaram V, Putoczki TL, Schmidt-Arras D, Laurence A, Bernstein JA, Griffin MDW, Uhlig HH. Functional and structural analysis of cytokine-selective IL6ST defects that cause recessive hyper-IgE syndrome. J Allergy Clin Immunol. 2021 Aug;148(2):585-598. doi: 10.1016/j.jaci.2021.02.044. Epub 2021 Mar 23.
- Geng LN, Kohler JN, Levonian P; Members of the Undiagnosed Diseases Network; Bernstein JA, Ford JM, Ahuja N, Witteles R, Hom J, Wheeler M. Genomics in medicine: a novel elective rotation for internal medicine residents. Postgrad Med J. 2019 Oct;95(1128):569-572. doi: 10.1136/postgradmedj-2018-136355. Epub 2019 Aug 22.
- Rosenfeld JA, Xiao R, Bekheirnia MR, Kanani F, Parker MJ, Koenig MK, van Haeringen A, Ruivenkamp C, Rosmaninho-Salgado J, Almeida PM, Sa J, Pinto Basto J, Palen E, Oetjens KF, Burrage LC, Xia F, Liu P, Eng CM; Undiagnosed Diseases Network; Yang Y, Posey JE, Lee BH. Heterozygous variants in SPTBN1 cause intellectual disability and autism. Am J Med Genet A. 2021 Jul;185(7):2037-2045. doi: 10.1002/ajmg.a.62201. Epub 2021 Apr 13.
- Yoo B, Birgmeier J, Bernstein JA, Bejerano G. InpherNet accelerates monogenic disease diagnosis using patients' candidate genes' neighbors. Genet Med. 2021 Oct;23(10):1984-1992. doi: 10.1038/s41436-021-01238-2. Epub 2021 Jul 6.
- Brokamp E, Koziura ME, Phillips JA 3rd, Tang LA, Cogan JD, Rives LC, Robertson AK, Duncan L, Bican A, Peterson JF, Newman JH, Hamid R, Bastarache L; Undiagnosed Diseases Network. One is the loneliest number: genotypic matchmaking using the electronic health record. Genet Med. 2021 Oct;23(10):1830-1832. doi: 10.1038/s41436-021-01179-w. Epub 2021 Jul 6. No abstract available.
- Panneerselvam S, Wang J, Zhu W, Dai H, Pappas JG, Rabin R, Low KJ, Rosenfeld JA, Emrick L, Xiao R, Xia F, Yang Y, Eng CM, Anderson A, Chau V, Soler-Alfonso C, Streff H, Lalani SR, Mercimek-Andrews S; Undiagnosed Diseases Network; DDD Study; Bi W. PPP3CA truncating variants clustered in the regulatory domain cause early-onset refractory epilepsy. Clin Genet. 2021 Aug;100(2):227-233. doi: 10.1111/cge.13979. Epub 2021 Jun 1.
- Furuta Y, Tinker RJ, Gulsevin A, Neumann SM, Hamid R, Cogan JD, Rives L, Liu Q, Chen HC, Joos KM, Phillips JA 3rd; Undiagnosed Diseases Network. Probable digenic inheritance of Diamond-Blackfan anemia. Am J Med Genet A. 2024 Mar;194(3):e63454. doi: 10.1002/ajmg.a.63454. Epub 2023 Oct 27.
- Magyar CL, Murdock DR, Burrage LC, Dai H, Lalani SR, Lewis RA, Lin Y, Astudillo MF, Rosenfeld JA, Tran AA, Gibson JB; Undiagnosed Diseases Network; Bacino CA, Lee BH, Chao HT. PRUNE1 c.933G>A synonymous variant induces exon 7 skipping, disrupts the DHHA2 domain, and leads to an atypical NMIHBA syndrome presentation: Case report and review of the literature. Am J Med Genet A. 2022 Jun;188(6):1868-1874. doi: 10.1002/ajmg.a.62704. Epub 2022 Feb 23.
- Handoko M, Emrick LT, Rosenfeld JA, Wang X, Tran AA, Turner A, Belmont JW; Undiagnosed Diseases Network; Lee BH, Bacino CA, Chao HT. Recurrent mosaic MTOR c.5930C > T (p.Thr1977Ile) variant causing megalencephaly, asymmetric polymicrogyria, and cutaneous pigmentary mosaicism: Case report and review of the literature. Am J Med Genet A. 2019 Mar;179(3):475-479. doi: 10.1002/ajmg.a.61007. Epub 2018 Dec 19.
- Silverman EK, Allard P, Loscalzo J, Mulvihill JJ, Korrick SA; Undiagnosed Diseases Network. Reported environmental exposures are inversely associated with obtaining a genetic diagnosis in the Undiagnosed Diseases Network. Am J Med Genet A. 2019 Jun;179(6):958-965. doi: 10.1002/ajmg.a.61132. Epub 2019 Mar 23.
- Macnamara EF, Loydpierson A, Latour YL, D'Souza P, Murphy J, Wolfe L, Estwick T, Johnston JM, Yang J; Undiagnosed Diseases Network; Acosta MT, Lee PR, Pierson TM, Soldatos A, Toro C, Markello T, Adams DR, Gahl WA, Yousef M, Tifft CJ. Risks and benefits of anesthesia for combined pediatric procedures in the NIH undiagnosed diseases program. Mol Genet Metab. 2023 Nov;140(3):107707. doi: 10.1016/j.ymgme.2023.107707. Epub 2023 Oct 10.
- Kumble S, Levy AM, Punetha J, Gao H, Ah Mew N, Anyane-Yeboa K, Benke PJ, Berger SM, Bjerglund L, Campos-Xavier B, Ciliberto M, Cohen JS, Comi AM, Curry C, Damaj L, Denomme-Pichon AS, Emrick L, Faivre L, Fasano MB, Fievet A, Finkel RS, Garcia-Minaur S, Gerard A, Gomez-Puertas P, Guillen Sacoto MJ, Hoffman TL, Howard L, Iglesias AD, Izumi K, Larson A, Leiber A, Lozano R, Marcos-Alcalde I, Mintz CS, Mullegama SV, Moller RS, Odent S, Oppermann H, Ostergaard E, Pacio-Miguez M, Palomares-Bralo M, Parikh S, Paulson AM, Platzer K, Posey JE, Potocki L, Revah-Politi A, Rio M, Ritter AL, Robinson S, Rosenfeld JA, Santos-Simarro F, Sousa SB; Undiagnosed Diseases Network; Weber M, Xie Y, Chung WK, Brown NJ, Tumer Z. The clinical and molecular spectrum of QRICH1 associated neurodevelopmental disorder. Hum Mutat. 2022 Feb;43(2):266-282. doi: 10.1002/humu.24308. Epub 2021 Dec 11.
- Tinker RJ, Bastarache L, Ezell K, Kobren SN, Esteves C, Rosenfeld JA, Macnamara EF, Hamid R, Cogan JD, Rinker D, Mukharjee S, Glass I, Dipple K, Phillips JA 3rd; Undiagnosed Diseases Network. The contribution of mosaicism to genetic diseases and de novo pathogenic variants. Am J Med Genet A. 2023 Oct;191(10):2482-2492. doi: 10.1002/ajmg.a.63309. Epub 2023 May 29.
- Gahl WA, Wise AL, Ashley EA. The Undiagnosed Diseases Network of the National Institutes of Health: A National Extension. JAMA. 2015 Nov 3;314(17):1797-8. doi: 10.1001/jama.2015.12249. No abstract available.
- Schymick J, Leahy P, Cowan T, Ruzhnikov MRZ, Gates R, Fernandez L, Pramanik G; Undiagnosed Diseases Network; Yarlagadda V, Wheeler M, Bernstein JA, Enns GM, Lee C. Variable clinical severity in TANGO2 deficiency: Case series and literature review. Am J Med Genet A. 2022 Feb;188(2):473-487. doi: 10.1002/ajmg.a.62543. Epub 2021 Oct 19.
- Cope H, Spillmann R, Rosenfeld JA, Brokamp E, Signer R, Schoch K, Glanton E, Sullivan JA, Macnamara E, Lincoln S, Golden-Grant K; Undiagnosed Diseases Network; Orengo JP, Clark G, Burrage LC, Posey JE, Punetha J, Robertson A, Cogan J, Phillips JA 3rd, Martinez-Agosto J, Shashi V. Missed diagnoses: Clinically relevant lessons learned through medical mysteries solved by the Undiagnosed Diseases Network. Mol Genet Genomic Med. 2020 Oct;8(10):e1397. doi: 10.1002/mgg3.1397. Epub 2020 Jul 30.
- LeBlanc K, Glanton E, Nagy A, Bater J, Berro T, McGuinness MA, Studwell C; Undiagnosed Diseases Network; Might M. Rare disease patient matchmaking: development and outcomes of an internet case-finding strategy in the Undiagnosed Diseases Network. Orphanet J Rare Dis. 2021 May 10;16(1):210. doi: 10.1186/s13023-021-01825-1.
- Macnamara EF, Schoch K, Glanton E, Fieg E, Brokamp E; Undiagnosed Diseases Network; Signer R, LeBlanc K, McConkie-Rosell A, Palmer CGS. Cases from the Undiagnosed Diseases Network: The continued value of counseling skills in a new genomic era. J Genet Couns. 2019 Apr;28(2):194-201. doi: 10.1002/jgc4.1091. Epub 2019 Jan 24.
- Studwell CM, Glanton E; Undiagnosed Diseases Network; Sinsheimer JS, Palmer CGS, LeBlanc K. Family genetic result communication in rare and undiagnosed disease communities: Understanding the practice. J Genet Couns. 2021 Apr;30(2):439-447. doi: 10.1002/jgc4.1329. Epub 2020 Oct 27.
- Kimera L, Nadimpalli S, Kurup S, Cole FS, Huang R, Sisco K, Ranaivo HR, Shinawi M, Dickson P, Mian A, Reynolds M, Undiagnosed Diseases Network. Case report: ocular manifestations of a gain-of-function mutation in CLCN6, a newly diagnosed disease. Ophthalmic Genet. 2024 Jun;45(3):271-274. doi: 10.1080/13816810.2023.2291683. Epub 2023 Dec 14.
- Kohler JN, Glanton E, Boyd BM, Sillari CH, Marwaha S; Undiagnosed Diseases Network; Wheeler MT. Genetic counselor roles in the undiagnosed diseases network research study: Clinical care, collaboration, and curation. J Genet Couns. 2022 Apr;31(2):326-337. doi: 10.1002/jgc4.1493. Epub 2021 Aug 10.
- Weixel T, Wolfe L, Macnamara EF. Genetic counseling for congenital disorders of glycosylation (CDG). J Genet Couns. 2024 Dec;33(6):1358-1364. doi: 10.1002/jgc4.1856. Epub 2024 Jan 19.
- Peart LS, Gonzalez J, Bivona S, Latchman K, Torres L; Undiagnosed Diagnosis Network; Tekin M. Bilateral choanal stenosis in auriculocondylar syndrome caused by a PLCB4 variant. Am J Med Genet A. 2022 Apr;188(4):1307-1310. doi: 10.1002/ajmg.a.62634. Epub 2022 Jan 7.
- Yan YL, Titus T, Desvignes T, BreMiller R, Batzel P, Sydes J, Farnsworth D, Dillon D, Wegner J, Phillips JB, Peirce J, Dowd J; Undiagnosed Diseases Network; Buck CL, Miller A, Westerfield M, Postlethwait JH. A fish with no sex: gonadal and adrenal functions partition between zebrafish NR5A1 co-orthologs. Genetics. 2021 Feb 9;217(2):iyaa030. doi: 10.1093/genetics/iyaa030.
- Shankar SP, Grimsrud K, Lanoue L, Egense A, Willis B, Horberg J, AlAbdi L, Mayer K, Utkur K, Monaghan KG, Krier J, Stoler J, Alnemer M, Shankar PR, Schaffrath R, Alkuraya FS, Brinkmann U, Eriksson LA, Lloyd K, Rauen KA; Undiagnosed Diseases Network. A novel DPH5-related diphthamide-deficiency syndrome causing embryonic lethality or profound neurodevelopmental disorder. Genet Med. 2022 Jul;24(7):1567-1582. doi: 10.1016/j.gim.2022.03.014. Epub 2022 Apr 28.
- Bashamboo A, Donohoue PA, Vilain E, Rojo S, Calvel P, Seneviratne SN, Buonocore F, Barseghyan H, Bingham N, Rosenfeld JA, Mulukutla SN, Jain M, Burrage L, Dhar S, Balasubramanyam A, Lee B; Members of UDN; Dumargne MC, Eozenou C, Suntharalingham JP, de Silva K, Lin L, Bignon-Topalovic J, Poulat F, Lagos CF, McElreavey K, Achermann JC. A recurrent p.Arg92Trp variant in steroidogenic factor-1 (NR5A1) can act as a molecular switch in human sex development. Hum Mol Genet. 2016 Aug 15;25(16):3446-3453. doi: 10.1093/hmg/ddw186. Epub 2016 Jul 4.
- Paul MS, Michener SL, Pan H, Chan H, Pfliger JM, Rosenfeld JA, Lerma VC, Tran A, Longley MA, Lewis RA, Weisz-Hubshman M, Bekheirnia MR, Bekheirnia N, Massingham L, Zech M, Wagner M, Engels H, Cremer K, Mangold E, Peters S, Trautmann J, Mester JL, Guillen Sacoto MJ, Person R, McDonnell PP, Cohen SR, Lusk L, Cohen ASA, Le Pichon JB, Pastinen T, Zhou D, Engleman K, Racine C, Faivre L, Moutton S, Denomme-Pichon AS, Koh HY, Poduri A, Bolton J, Knopp C, Julia Suh DS, Maier A, Toosi MB, Karimiani EG, Maroofian R, Schaefer GB, Ramakumaran V, Vasudevan P, Prasad C, Osmond M, Schuhmann S, Vasileiou G, Russ-Hall S, Scheffer IE, Carvill GL, Mefford H; Undiagnosed Diseases Network; Bacino CA, Lee BH, Chao HT. A syndromic neurodevelopmental disorder caused by rare variants in PPFIA3. Am J Hum Genet. 2024 Jan 4;111(1):96-118. doi: 10.1016/j.ajhg.2023.12.004.
- Zastrow DB, Kohler JN, Bonner D, Reuter CM, Fernandez L, Grove ME, Fisk DG; Undiagnosed Diseases Network; Yang Y, Eng CM, Ward PA, Bick D, Worthey EA, Fisher PG, Ashley EA, Bernstein JA, Wheeler MT. A toolkit for genetics providers in follow-up of patients with non-diagnostic exome sequencing. J Genet Couns. 2019 Apr;28(2):213-228. doi: 10.1002/jgc4.1119.
- Kanca O, Andrews JC, Lee PT, Patel C, Braddock SR, Slavotinek AM, Cohen JS, Gubbels CS, Aldinger KA, Williams J, Indaram M, Fatemi A, Yu TW, Agrawal PB, Vezina G, Simons C, Crawford J, Lau CC; Undiagnosed Diseases Network; Chung WK, Markello TC, Dobyns WB, Adams DR, Gahl WA, Wangler MF, Yamamoto S, Bellen HJ, Malicdan MCV. De Novo Variants in WDR37 Are Associated with Epilepsy, Colobomas, Dysmorphism, Developmental Delay, Intellectual Disability, and Cerebellar Hypoplasia. Am J Hum Genet. 2019 Aug 1;105(2):413-424. doi: 10.1016/j.ajhg.2019.06.014. Epub 2019 Jul 18.
- Shieh C, Jones N, Vanle B, Au M, Huang AY, Silva APG, Lee H, Douine ED, Otero MG, Choi A, Grand K, Taff IP, Delgado MR, Hajianpour MJ, Seeley A, Rohena L, Vernon H, Gripp KW, Vergano SA, Mahida S, Naidu S, Sousa AB, Wain KE, Challman TD, Beek G, Basel D, Ranells J, Smith R, Yusupov R, Freckmann ML, Ohden L, Davis-Keppen L, Chitayat D, Dowling JJ, Finkel R, Dauber A, Spillmann R, Pena LDM; Undiagnosed Diseases Network; Metcalfe K, Splitt M, Lachlan K, McKee SA, Hurst J, Fitzpatrick DR, Morton JEV, Cox H, Venkateswaran S, Young JI, Marsh ED, Nelson SF, Martinez JA, Graham JM Jr, Kini U, Mackay JP, Pierson TM. GATAD2B-associated neurodevelopmental disorder (GAND): clinical and molecular insights into a NuRD-related disorder. Genet Med. 2020 May;22(5):878-888. doi: 10.1038/s41436-019-0747-z. Epub 2020 Jan 17.
- Rodan LH, Spillmann RC, Kurata HT, Lamothe SM, Maghera J, Jamra RA, Alkelai A, Antonarakis SE, Atallah I, Bar-Yosef O, Bilan F, Bjorgo K, Blanc X, Van Bogaert P, Bolkier Y, Burrage LC, Christ BU, Granadillo JL, Dickson P, Donald KA, Dubourg C, Eliyahu A, Emrick L, Engleman K, Gonfiantini MV, Good JM, Kalser J, Kloeckner C, Lachmeijer G, Macchiaiolo M, Nicita F, Odent S, O'Heir E, Ortiz-Gonzalez X, Pacio-Miguez M, Palomares-Bralo M, Pena L, Platzer K, Quinodoz M, Ranza E, Rosenfeld JA, Roulet-Perez E, Santani A, Santos-Simarro F, Pode-Shakked B, Skraban C, Slaugh R, Superti-Furga A, Thiffault I, van Jaabrsveld RH, Vincent M, Wang HG, Zacher P; Undiagnosed Diseases Network; Rush E, Pitt GS, Au PYB, Shashi V. Phenotypic expansion of CACNA1C-associated disorders to include isolated neurological manifestations. Genet Med. 2021 Oct;23(10):1922-1932. doi: 10.1038/s41436-021-01232-8. Epub 2021 Jun 23.
- Blanco-Sanchez B, Clement A, Stednitz SJ, Kyle J, Peirce JL, McFadden M, Wegner J, Phillips JB, Macnamara E, Huang Y, Adams DR, Toro C, Gahl WA, Malicdan MCV, Tifft CJ, Zink EM, Bloodsworth KJ, Stratton KG; Undiagnosed Diseases Network; Koeller DM, Metz TO, Washbourne P, Westerfield M. yippee like 3 (ypel3) is a novel gene required for myelinating and perineurial glia development. PLoS Genet. 2020 Jun 16;16(6):e1008841. doi: 10.1371/journal.pgen.1008841. eCollection 2020 Jun.
- Ferdinandusse S, McWalter K, Te Brinke H, IJlst L, Mooijer PM, Ruiter JPN, van Lint AEM, Pras-Raves M, Wever E, Millan F, Guillen Sacoto MJ, Begtrup A, Tarnopolsky M, Brady L, Ladda RL, Sell SL, Nowak CB, Douglas J, Tian C, Ulm E, Perlman S, Drack AV, Chong K, Martin N, Brault J, Brokamp E, Toro C, Gahl WA, Macnamara EF, Wolfe L; Undiagnosed Diseases Network; Waisfisz Q, Zwijnenburg PJG, Ziegler A, Barth M, Smith R, Ellingwood S, Gaebler-Spira D, Bakhtiari S, Kruer MC, van Kampen AHC, Wanders RJA, Waterham HR, Cassiman D, Vaz FM. An autosomal dominant neurological disorder caused by de novo variants in FAR1 resulting in uncontrolled synthesis of ether lipids. Genet Med. 2021 Apr;23(4):740-750. doi: 10.1038/s41436-020-01027-3. Epub 2020 Nov 26.
- Shashi V, Pena LD, Kim K, Burton B, Hempel M, Schoch K, Walkiewicz M, McLaughlin HM, Cho M, Stong N, Hickey SE, Shuss CM; Undiagnosed Diseases Network; Freemark MS, Bellet JS, Keels MA, Bonner MJ, El-Dairi M, Butler M, Kranz PG, Stumpel CT, Klinkenberg S, Oberndorff K, Alawi M, Santer R, Petrovski S, Kuismin O, Korpi-Heikkila S, Pietilainen O, Aarno P, Kurki MI, Hoischen A, Need AC, Goldstein DB, Kortum F. De Novo Truncating Variants in ASXL2 Are Associated with a Unique and Recognizable Clinical Phenotype. Am J Hum Genet. 2016 Oct 6;99(4):991-999. doi: 10.1016/j.ajhg.2016.08.017. Epub 2016 Sep 29.
- Beziat V, Tavernier SJ, Chen YH, Ma CS, Materna M, Laurence A, Staal J, Aschenbrenner D, Roels L, Worley L, Claes K, Gartner L, Kohn LA, De Bruyne M, Schmitz-Abe K, Charbonnier LM, Keles S, Nammour J, Vladikine N, Maglorius Renkilaraj MRL, Seeleuthner Y, Migaud M, Rosain J, Jeljeli M, Boisson B, Van Braeckel E, Rosenfeld JA, Dai H, Burrage LC, Murdock DR, Lambrecht BN, Avettand-Fenoel V, Vogel TP; Undiagnosed Diseases Network; Esther CR, Haskologlu S, Dogu F, Ciznar P, Boutboul D, Ouachee-Chardin M, Amourette J, Lebras MN, Gauvain C, Tcherakian C, Ikinciogullari A, Beyaert R, Abel L, Milner JD, Grimbacher B, Couderc LJ, Butte MJ, Freeman AF, Catherinot E, Fieschi C, Chatila TA, Tangye SG, Uhlig HH, Haerynck F, Casanova JL, Puel A. Dominant-negative mutations in human IL6ST underlie hyper-IgE syndrome. J Exp Med. 2020 Jun 1;217(6):e20191804. doi: 10.1084/jem.20191804.
- Johnstone DL, Nguyen TTM, Zambonin J, Kernohan KD, St-Denis A, Baratang NV, Hartley T, Geraghty MT, Richer J, Majewski J, Bareke E, Guerin A, Pendziwiat M, Pena LDM, Braakman HMH, Gripp KW, Edmondson AC, He M, Spillmann RC, Eklund EA, Bayat A, McMillan HJ, Boycott KM, Campeau PM. Early infantile epileptic encephalopathy due to biallelic pathogenic variants in PIGQ: Report of seven new subjects and review of the literature. J Inherit Metab Dis. 2020 Nov;43(6):1321-1332. doi: 10.1002/jimd.12278. Epub 2020 Aug 3.
- Marcogliese PC, Shashi V, Spillmann RC, Stong N, Rosenfeld JA, Koenig MK, Martinez-Agosto JA, Herzog M, Chen AH, Dickson PI, Lin HJ, Vera MU, Salamon N, Graham JM Jr, Ortiz D, Infante E, Steyaert W, Dermaut B, Poppe B, Chung HL, Zuo Z, Lee PT, Kanca O, Xia F, Yang Y, Smith EC, Jasien J, Kansagra S, Spiridigliozzi G, El-Dairi M, Lark R, Riley K, Koeberl DD, Golden-Grant K; Program for Undiagnosed Diseases (UD-PrOZA); Undiagnosed Diseases Network; Yamamoto S, Wangler MF, Mirzaa G, Hemelsoet D, Lee B, Nelson SF, Goldstein DB, Bellen HJ, Pena LDM. IRF2BPL Is Associated with Neurological Phenotypes. Am J Hum Genet. 2018 Aug 2;103(2):245-260. doi: 10.1016/j.ajhg.2018.07.006. Epub 2018 Jul 26.
- Huang Y, Lemire G, Briere LC, Liu F, Wessels MW, Wang X, Osmond M, Kanca O, Lu S, High FA, Walker MA, Rodan LH; Undiagnosed Diseases Network; Care4Rare Canada Consortium; Kernohan KD, Sweetser DA, Boycott KM, Bellen HJ. The recurrent de novo c.2011C>T missense variant in MTSS2 causes syndromic intellectual disability. Am J Hum Genet. 2022 Oct 6;109(10):1923-1931. doi: 10.1016/j.ajhg.2022.08.011. Epub 2022 Sep 5.
- Ward SK, Wadley A, Tsai CA, Benke PJ, Emrick L, Fisher K, Houck KM, Dai H; Undiagnosed Diseases Network; Guillen Sacoto MJ, Craigen W, Glaser K, Murdock DR, Rohena L, Diderich KEM, Bruggenwirth HT, Lee B, Bacino C, Burrage LC, Rosenfeld JA. De novo missense variants in ZBTB47 are associated with developmental delays, hypotonia, seizures, gait abnormalities, and variable movement abnormalities. Am J Med Genet A. 2024 Jan;194(1):17-30. doi: 10.1002/ajmg.a.63399. Epub 2023 Sep 25.
- Ma M, Zheng Y, Deng M, Lu S, Pan X, Luo X, Etoundi M, Li-Kroeger D, Worley KC, Burrage LC, Blieden LS, Allworth A, Chen WL, Merla G, Mandriani B, Otten CE, Blanc P, Rosenfeld JA, Dutta D, Yamamoto S, Wangler MF; Undiagnosed Diseases Network; Glass IA, Chen J, Blue E, Prontera P, Rosain J, Marlin S, Lalani SR, Bellen HJ. Heterozygous variants in PLCG1 affect hearing, vision, cardiac, and immune function. medRxiv [Preprint]. 2025 May 29:2024.01.08.23300523. doi: 10.1101/2024.01.08.23300523.
- Keehan L, Carter JN, Kravets E, Wheeler MT, Bernstein JA, Maselli RA, Sampson JB, Bachir S. RAPSN-Associated Congenital Myasthenic Syndrome due to Biallelic Single Nucleotide Variants at the Same Position. Case Rep Genet. 2025 Oct 20;2025:1882021. doi: 10.1155/crig/1882021. eCollection 2025.
Даты записи исследования
Эти даты отслеживают ход отправки отчетов об исследованиях и сводных результатов на сайт ClinicalTrials.gov. Записи исследований и сообщаемые результаты проверяются Национальной медицинской библиотекой (NLM), чтобы убедиться, что они соответствуют определенным стандартам контроля качества, прежде чем публиковать их на общедоступном веб-сайте.
Изучение основных дат
Начало исследования (Действительный)
16 сентября 2015 г.
Первичное завершение (Оцененный)
16 сентября 2099 г.
Завершение исследования (Оцененный)
31 декабря 2099 г.
Даты регистрации исследования
Первый отправленный
19 мая 2015 г.
Впервые представлено, что соответствует критериям контроля качества
19 мая 2015 г.
Первый опубликованный (Оцененный)
21 мая 2015 г.
Обновления учебных записей
Последнее опубликованное обновление (Действительный)
18 сентября 2026 г.
Последнее отправленное обновление, отвечающее критериям контроля качества
17 сентября 2026 г.
Последняя проверка
16 сентября 2026 г.
Дополнительная информация
Термины, связанные с этим исследованием
Дополнительные соответствующие термины MeSH
Другие идентификационные номера исследования
- 150130
- 15-HG-0130
Информация о лекарствах и устройствах, исследовательские документы
Изучает лекарственный продукт, регулируемый FDA США.
Нет
Изучает продукт устройства, регулируемый Управлением по санитарному надзору за качеством пищевых продуктов и медикаментов США.
Нет
Эта информация была получена непосредственно с веб-сайта clinicaltrials.gov без каких-либо изменений. Если у вас есть запросы на изменение, удаление или обновление сведений об исследовании, обращайтесь по адресу register@clinicaltrials.gov. Как только изменение будет реализовано на clinicaltrials.gov, оно будет автоматически обновлено и на нашем веб-сайте. .