미진단 질병 네트워크를 통한 미진단 장애 개인의 임상 및 유전적 평가
2026년 6월 10일 업데이트: National Human Genome Research Institute (NHGRI)
Undiagnosed Diseases Network를 통한 미진단 장애 환자의 임상 및 유전적 평가
배경:
- 심각하고 때로는 생명을 위협하는 증상에 대한 설명 없이 환자와 가족은 알 수 없는 상태에 놓이게 됩니다. NIH는 미진단 질병 네트워크(Undiagnosed Diseases Network, UDN)라고 하는 의료 연구 센터 네트워크를 구축하여 이러한 개인에게 치료와 답변을 제공하는 데 도움을 주었습니다.
목표:
- 진단되지 않은 질병을 가진 사람들에 대한 진단 및 관리를 개선합니다.
적임:
- 진단되지 않은 질병이 있는 사람 및 그 가족.
설계:
참가자는 5일간의 임상 및 연구 방문을 위해 UDN 의료 센터 중 한 곳으로 이동합니다.
방문의 일환으로 UDN 의료 제공자는 참가자에게 다음을 요청할 수 있습니다.
다음을 포함하여 수행된 임상적으로 표시된 테스트 및 절차:
- 신체 검사
- 혈액 및 소변 검사
- 건강 및 가족력 검토
- 엑스레이 및 바디 스캔
- 설문조사
- 얼굴과 몸 사진
- 신체가 구토와 같은 반응 없이 음식을 처리할 수 있는지 확인하기 위한 특수 식이요법
- 비디오 또는 음성 녹음
- 진단에 도달하는 데 도움이 되는 기타 검사 및 절차
다음을 포함하여 수행된 연구 테스트 및 절차:
- 피부 생검. 이를 위해 작은 피부 조각을 가져옵니다.
- 설문조사
- 진단이나 치료와 관련이 없을 수 있는 연구를 위한 기타 테스트 및 절차.
- 대부분의 참가자는 유전자 검사를 위해 샘플을 제공해야 합니다.
- 테스트 결과를 논의하기 위해 방문 후 참가자에게 연락할 수 있습니다. 향후 인터뷰 및 설문 조사를 위해 연락을 취할 수도 있습니다.
- 참가자의 친척은 유전자 검사를 위해 샘플을 제공하도록 요청받을 수 있습니다. 그들은 방문의 일부를 기록하고 추가 검사를 받도록 요청받을 수 있습니다. 향후 인터뷰 및 설문 조사를 위해 연락을 취할 수도 있습니다.
- 수집된 임상 및 연구 정보는 데이터베이스에 저장됩니다.
- 수집된 정보와 샘플은 연구 목적으로 다른 사람들과 공유됩니다.
연구 개요
상태
모병
정황
상세 설명
심각하고 때로는 생명을 위협하는 증상에 대한 설명 없이 환자와 그 가족은 알 수 없는 상태에 놓이게 됩니다.
많은 사람들이 미래에 대한 해답과 통찰을 찾기 위해 수없이 많고 종종 반복적인 검사를 받으며 의사에서 의사로 옮겨 다니는 자신을 발견합니다.
진단을 찾기 위한 이 길고 고된 여정은 많은 환자들에게 끝나지 않습니다. 희귀 질환 연구실(ORDR)은 도움을 구하는 개인의 6%가 진단되지 않은 장애를 가지고 있다고 지적합니다.
2008년에 국립보건원(NIH) 미진단 질병 프로그램(UDP)은 오랫동안 진단을 받지 못한 불가사의한 상태에 있는 개인들에게 치료와 해답을 제공하는 것을 목표로 설립되었습니다.
NIH UDP는 NIH ORDR, 국립 인간 게놈 연구소 교내 연구 프로그램(NHGRI-IRP) 및 NIH 임상 연구 센터(CRC)의 합작 투자입니다.
NIH UDP의 목표는 다음과 같습니다. (1) 진단되지 않은 질병이 있는 환자에게 답변을 제공합니다. (2) 질병 메커니즘에 대한 새로운 지식 생성; (3) 표현형 분석 및 게놈 기술의 사용에 대한 새로운 접근법의 적용을 평가합니다. (4) 가능한 경우 잠재적인 치료 대상을 식별합니다.
미진단 질병 네트워크(Undiagnosed Diseases Network, UDN)가 형성되기 전에 UDP는 3,300개의 의료 기록을 평가하고 희귀 및 미진단 상태의 750명을 NIH 임상 센터에 입원시켰으며 70개 이상의 희귀 질병 진단과 몇 가지 새로운 상태를 확인했습니다.
NIH UDP의 성공으로 인해 NIH Common Fund는 2013-2022 회계연도 동안 의료 연구 센터 네트워크인 UDN의 설립을 지원했습니다.
임상 현장에서는 광범위한 표현형 분석, 유전자 분석 및 잠재적인 질병 유발 변이체에 대한 기능적 연구를 수행합니다.
환자에게 수행되는 검사에는 진단에 도달하는 데 도움이 되는 의학적으로 표시된 연구뿐만 아니라 피부 생검, 채혈 및 DNA 분석을 포함하는 연구 조사가 포함됩니다.
또한 UDN은 네트워크 내에서 개인적으로 식별 가능한 표현형 및 유전자형 정보의 공유를 허용함으로써 UDP의 목표를 발전시키고 있습니다.
참가자 정보를 공유하고 협력을 장려함으로써 UDN은 희귀 질환에 대한 이해를 높이고 진단 과정을 발전시키고 진단되지 않은 질병을 가진 개인을 돌보기를 희망합니다.
연구 유형
관찰
등록 (추정된)
20000
연락처 및 위치
이 섹션에서는 연구를 수행하는 사람들의 연락처 정보와 이 연구가 수행되는 장소에 대한 정보를 제공합니다.
연구 연락처
- 이름: Paul Mazur
- 전화번호: (844) 746-4836
- 이메일: udn@hms.harvard.edu
연구 장소
-
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Alabama
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Birmingham, Alabama, 미국, 35233
- 모병
- University of Alabama at Birmingham
-
연락하다:
- Bruce Korf, M.D.
- 이메일: bkorf@uab.edu
-
Huntsville, Alabama, 미국, 35806
- 완전한
- HudsonAlpha Institute for Biotechnology, Inc.
-
-
California
-
Los Angeles, California, 미국, 90095
- 모병
- University of California, Los Angeles
-
연락하다:
- Stanley Nelson, M.D.
- 전화번호: 310-794-7981
- 이메일: snelson@ucla.edu
-
Orange, California, 미국, 92668
- 모병
- University of California, Irvine Medical Center
-
연락하다:
- Changrui Xiao, M.D.
- 전화번호: 714-456-7720
- 이메일: changrx@hs.uci.edu
-
Stanford, California, 미국, 94305
- 모병
- Leland Stanford Junior University
-
연락하다:
- Euan Ashley, MD, PhD
- 전화번호: Not Listed
- 이메일: euan@stanford.edu
-
Stanford, California, 미국, 94305
- 모병
- Stanford Hospital and Clinics
-
연락하다:
- Jonathan Bernstein, MD, PhD
- 전화번호: Not Listed
- 이메일: jon.bernstein@stanford.edu
-
Stanford, California, 미국, 94020
- 완전한
- Lucile Salter Packard Children's Hospital at Stanford
-
Stanford, California, 미국, 94305-5584
- 모병
- Stanford University
-
연락하다:
- Euan Ashley, M.D.
- 전화번호: 650-736-1147
- 이메일: euan@stanford.edu
-
-
District of Columbia
-
Washington D.C., District of Columbia, 미국, 20010
- 모병
- Childrens National Medical Center
-
연락하다:
- Eric Vilain, M.D.
- 전화번호: 202-476-3216
- 이메일: evilain@childrensnational.org
-
-
Florida
-
Miami, Florida, 미국, 33136
- 모병
- University of Miami Miller School of Medicine
-
연락하다:
- Mustafa Tekin, MD
- 전화번호: 305-243-2381
- 이메일: mtekin@med.miami.edu
-
-
Illinois
-
Chicago, Illinois, 미국, 60611
- 아직 모집하지 않음
- Lurie Children s Hospital
-
연락하다:
- Carlos Prada, M.D.
- 전화번호: 513-304-8906
- 이메일: cprada@luriechildrens.org
-
-
Indiana
-
Indianapolis, Indiana, 미국, 46202-5262
- 모병
- Indiana University
-
연락하다:
- Stephane Ware, M.D.
- 전화번호: 317-274-8938
- 이메일: stware@iu.edu
-
-
Maryland
-
Bethesda, Maryland, 미국, 20892
- 모병
- National Institutes of Health Clinical Center
-
연락하다:
- For more information at the NIH Clinical Center contact Office of Patient Recruitment (OPR)
- 전화번호: TTY dial 711 800-411-1222
- 이메일: ccopr@nih.gov
-
-
Massachusetts
-
Boston, Massachusetts, 미국, 02115
- 모병
- Brigham and Women's Hospital
-
연락하다:
- David Sweetser, M.D., Ph.D.
- 전화번호: 617-726-1742
- 이메일: dsweetser@partners.org
-
Boston, Massachusetts, 미국, 02114
- 모병
- Massachusetts General Hospital
-
연락하다:
- David Sweetser, M.D.
- 전화번호: 617-726-1742
- 이메일: dsweetser@partners.org
-
Boston, Massachusetts, 미국, 02115
- 모병
- Boston Children s Hospital
-
연락하다:
- Ingrid Holm, M.D.
- 전화번호: 617-919-2338
- 이메일: ingrid.holm@childrens.harvard.edu
-
Boston, Massachusetts, 미국, 02115
- 아직 모집하지 않음
- Harvard U Faculty of Medicine
-
연락하다:
- Isaac Kohane
- 전화번호: Not Listed
- 이메일: isaac_kohane@harvard.edu
-
Boston, Massachusetts, 미국, 02115
- 완전한
- Harvard T.H. Chan School of Public Health
-
-
Minnesota
-
Rochester, Minnesota, 미국, 55905
- 모병
- Mayo Clinic
-
연락하다:
- Brendan Lanpher
- 이메일: lanpher.brendan@mayo.edu
-
-
Missouri
-
St Louis, Missouri, 미국, 63110
- 모병
- Washington University in St. Louis
-
연락하다:
- Patricia Dickson
- 전화번호: Not Listed
- 이메일: pdickson@wustl.edu
-
-
New York
-
New York, New York, 미국, 10013
- 모집하지 않고 적극적으로
- New York Genome Center
-
-
North Carolina
-
Durham, North Carolina, 미국, 27710
- 모병
- Duke University Health System
-
연락하다:
- Vandana Shashi, MD
- 전화번호: Not Listed
- 이메일: Vandana.shashi@duke.edu
-
-
Oregon
-
Eugene, Oregon, 미국, 97403
- 아직 모집하지 않음
- University of Oregon
-
연락하다:
- Monte Westerfield, PhD
- 전화번호: Not Listed
- 이메일: monte@uoneuro.uoregon.edu
-
Portland, Oregon, 미국, 97201-3098
- 완전한
- Oregon Health Sciences University
-
-
Pennsylvania
-
Philadelphia, Pennsylvania, 미국, 19104
- 모병
- Children's Hospital of Philadelphia
-
연락하다:
- Kathleen Sullivan, M.D.
- 전화번호: Not Listed
- 이메일: sullivank@email.chop.edu
-
Philadelphia, Pennsylvania, 미국, 19104-6056
- 모병
- University of Pennsylvania
-
연락하다:
- Daniel Rader, M.D.
- 이메일: rader@pennmedicine.upenn.edu
-
-
Tennessee
-
Nashville, Tennessee, 미국, 37232
- 모병
- Vanderbilt University Medical Center
-
연락하다:
- Rizwan Hamid, M.D.
- 이메일: rizwan.hamid@vumc.org
-
-
Texas
-
Houston, Texas, 미국, 77030
- 모병
- Baylor College of Medicine
-
연락하다:
- Brendan Lee, M.D.
- 전화번호: 713-798-8835
- 이메일: blee@bcm.edu
-
-
Utah
-
Salt Lake City, Utah, 미국, 84112
- 모병
- University of Utah
-
연락하다:
- Lorenzo Botto, M.D.
- 전화번호: 801-581-8943
- 이메일: lorenzo.botto@hsc.utah.edu
-
-
Washington
-
Richland, Washington, 미국, 99354
- 완전한
- Pacific Northwest National Laboratory
-
Seattle, Washington, 미국, 98195
- 모병
- University of Washington
-
연락하다:
- Gail Jarvik, M.D.
- 전화번호: Not Listed
- 이메일: pair@uw.edu
-
Seattle, Washington, 미국, 98101
- 모병
- Seattle Children's Hospital
-
연락하다:
- Katrina Dipple, MD, PhD
- 전화번호: Not Listed
- 이메일: katrina.dipple@seattlechildrens.org
-
-
Wisconsin
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Milwaukee, Wisconsin, 미국, 53226
- 모병
- Medical College of Wisconsin
-
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참여기준
연구원은 적격성 기준이라는 특정 설명에 맞는 사람을 찾습니다. 이러한 기준의 몇 가지 예는 개인의 일반적인 건강 상태 또는 이전 치료입니다.
자격 기준
공부할 수 있는 나이
1개월 (어린이, 성인, 고령자)
건강한 자원 봉사자를 받아들입니다
예
샘플링 방법
비확률 샘플
연구 인구
진단되지 않은 상태의 개인
설명
- 포함 기준:
UDN에 대한 이상적인 지원자는 다음과 같은 개인을 포함합니다.
- UDN 신청서가 제출된 표현형과 관련된 하나 이상의 객관적인 발견.
- 객관적 소견에 대해 환자를 평가한 최소 2명의 전문가의 평가에도 불구하고 진단이 없음.
- UDN 센터 간에 식별된 방식으로, 네트워크 외부 연구 사이트에 대해 비식별화된 방식으로 정보 및 생체 재료의 저장 및 공유에 대한 계약.
- 동의할 수 없는 신청자는 등록할 수 있습니다.
제외 기준:
- 다음과 같은 개인이 수락되지 않을 가능성이 있는 지원자는 다음과 같습니다.
- 관련 객관적 소견 없이 보고된 증상.
- 객관적인 결과를 설명하는 진단.
- 기록 검토에서 제안된 진단.
- 데이터 공유 꺼림.
공부 계획
이 섹션에서는 연구 설계 방법과 연구가 측정하는 내용을 포함하여 연구 계획에 대한 세부 정보를 제공합니다.
연구는 어떻게 설계됩니까?
디자인 세부사항
- 관찰 모델: 케이스 전용
- 시간 관점: 유망한
코호트 및 개입
그룹/코호트 |
|---|
|
진단되지 않은 장애
희귀하고 진단되지 않은 장애가 있는 환자.
|
연구는 무엇을 측정합니까?
주요 결과 측정
결과 측정 |
측정값 설명 |
기간 |
|---|---|---|
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여러 임상 현장에 걸쳐, 그리고 이러한 새로운 희귀 질환의 병태생리학, 진단 분석의 영향을 조사할 준비가 된 실험실과 임상 조사자 간에 통합되고 협력적인 연구 커뮤니티를 만듭니다.
기간: 1-5일차 및 후속 조치
|
여러 임상 현장에 걸쳐 그리고 이러한 신규 및 희귀 질환의 병태생리학, 진단 프로세스가 환자와 가족에 미치는 영향을 조사할 준비가 된 실험실 및 임상 조사자 간에 통합되고 협력적인 연구 커뮤니티를 만들고 이러한 이해를 공유하여 최적의 개선된 옵션을 식별합니다. 환자 관리.
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1-5일차 및 후속 조치
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유전자형 분석, 표현형 분석, 환경 노출 문서화를 포함하여 표준화된 고품질 임상 및 실험실 데이터를 수집하고 공유하여 진단되지 않은 질병의 원인에 대한 연구를 촉진합니다.
기간: 1-5일차 및 후속 조치
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유전형 분석, 표현형 분석, 환경 노출 문서화를 포함하여 표준화된 고품질 임상 및 실험실 데이터를 수집하고 공유하여 진단되지 않은 질병의 원인에 대한 연구를 촉진합니다.
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1-5일차 및 후속 조치
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확대된 조사자 커뮤니티가 설계한 공통 및 부위별 프로토콜 개발을 통해 진단되지 않은 질병이 있는 환자에 대한 진단 및 관리 수준을 개선합니다.
기간: 1-5일차 및 후속 조치
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확대된 조사자 커뮤니티가 설계한 공통 및 부위별 프로토콜 개발을 통해 진단되지 않은 질병이 있는 환자에 대한 진단 및 치료 수준을 개선합니다.
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1-5일차 및 후속 조치
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공동 작업자 및 조사자
여기에서 이 연구와 관련된 사람과 조직을 찾을 수 있습니다.
수사관
- 수석 연구원: William A Gahl, M.D., National Human Genome Research Institute (NHGRI)
간행물 및 유용한 링크
연구에 대한 정보 입력을 담당하는 사람이 자발적으로 이러한 간행물을 제공합니다. 이것은 연구와 관련된 모든 것에 관한 것일 수 있습니다.
일반 간행물
- 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.
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- Bainbridge MN, Mazumder A, Ogasawara D, Abou Jamra R, Bernard G, Bertini E, Burglen L, Cope H, Crawford A, Derksen A, Dure L, Gantz E, Koch-Hogrebe M, Hurst ACE, Mahida S, Marshall P, Micalizzi A, Novelli A, Peng H; Rady Children's Institute for Genomic Medicine; Rodriguez D, Robbins SL, Rutledge SL, Scalise R, Schliesske S, Shashi V, Srivastava S, Thiffault I, Topol S; Undiagnosed Disease Network; Qebibo L, Wieczorek D, Cravatt B, Haricharan S, Torkamani A, Friedman J. Endocannabinoid dysfunction in neurological disease: neuro-ocular DAGLA-related syndrome. Brain. 2022 Oct 21;145(10):3383-3390. doi: 10.1093/brain/awac223.
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- Zou F, McWalter K, Schmidt L, Decker A, Picker JD, Lincoln S, Sweetser DA, Briere LC, Harini C; Members of the Undiagnosed Diseases Network; Marsh E, Medne L, Wang RY, Leydiker K, Mower A, Visser G, Cuppen I, van Gassen KL, van der Smagt J, Yousaf A, Tennison M, Shanmugham A, Butler E, Richard G, McKnight D. Expanding the phenotypic spectrum of GABRG2 variants: a recurrent GABRG2 missense variant associated with a severe phenotype. J Neurogenet. 2017 Mar-Jun;31(1-2):30-36. doi: 10.1080/01677063.2017.1315417. Epub 2017 May 2.
- Machol K, Rousseau J, Ehresmann S, Garcia T, Nguyen TTM, Spillmann RC, Sullivan JA, Shashi V, Jiang YH, Stong N, Fiala E, Willing M, Pfundt R, Kleefstra T, Cho MT, McLaughlin H, Rosello Piera M, Orellana C, Martinez F, Caro-Llopis A, Monfort S, Roscioli T, Nixon CY, Buckley MF, Turner A, Jones WD, van Hasselt PM, Hofstede FC, van Gassen KLI, Brooks AS, van Slegtenhorst MA, Lachlan K, Sebastian J, Madan-Khetarpal S, Sonal D, Sakkubai N, Thevenon J, Faivre L, Maurel A, Petrovski S, Krantz ID, Tarpinian JM, Rosenfeld JA, Lee BH; Undiagnosed Diseases Network; Campeau PM. Expanding the Spectrum of BAF-Related Disorders: De Novo Variants in SMARCC2 Cause a Syndrome with Intellectual Disability and Developmental Delay. Am J Hum Genet. 2019 Jan 3;104(1):164-178. doi: 10.1016/j.ajhg.2018.11.007. Epub 2018 Dec 20.
- Mis EK, Sega AG, Signer RH, Cartwright T, Ji W, Martinez-Agosto JA, Nelson SF, Palmer CGS, Lee H, Mitzelfelt T, Konstantino M; Undiagnosed Diseases Network; Jeffries L, Khokha MK, Marco E, Martin MG, Lakhani SA. Expansion of NEUROD2 phenotypes to include developmental delay without seizures. Am J Med Genet A. 2021 Apr;185(4):1076-1080. doi: 10.1002/ajmg.a.62064. Epub 2021 Jan 13.
- Kumar A, Zastrow DB, Kravets EJ, Beleford D, Ruzhnikov MRZ, Grove ME, Dries AM, Kohler JN, Waggott DM, Yang Y, Huang Y; Undiagnosed Diseases Network; Mackenzie KM, Eng CM, Fisher PG, Ashley EA, Teng JM, Stevenson DA, Shieh JT, Wheeler MT, Bernstein JA. Extracutaneous manifestations in phacomatosis cesioflammea and cesiomarmorata: Case series and literature review. Am J Med Genet A. 2019 Jun;179(6):966-977. doi: 10.1002/ajmg.a.61134. Epub 2019 Mar 28.
- 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.
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- 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.
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- 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.
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- Holt JM, Wilk B, Birch CL, Brown DM, Gajapathy M, Moss AC, Sosonkina N, Wilk MA, Anderson JA, Harris JM, Kelly JM, Shaterferdosian F, Uno-Antonison AE, Weborg A; Undiagnosed Diseases Network; Worthey EA. VarSight: prioritizing clinically reported variants with binary classification algorithms. BMC Bioinformatics. 2019 Oct 15;20(1):496. doi: 10.1186/s12859-019-3026-8.
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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.
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- 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.
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- 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.
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- 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.
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- 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.
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- 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.
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- 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.
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연구 기록 날짜
이 날짜는 ClinicalTrials.gov에 대한 연구 기록 및 요약 결과 제출의 진행 상황을 추적합니다. 연구 기록 및 보고된 결과는 공개 웹사이트에 게시되기 전에 특정 품질 관리 기준을 충족하는지 확인하기 위해 국립 의학 도서관(NLM)에서 검토합니다.
연구 주요 날짜
연구 시작 (실제)
2015년 9월 16일
기본 완료 (추정된)
2028년 12월 31일
연구 완료 (추정된)
2028년 12월 31일
연구 등록 날짜
최초 제출
2015년 5월 19일
QC 기준을 충족하는 최초 제출
2015년 5월 19일
처음 게시됨 (추정된)
2015년 5월 21일
연구 기록 업데이트
마지막 업데이트 게시됨 (실제)
2026년 6월 11일
QC 기준을 충족하는 마지막 업데이트 제출
2026년 6월 10일
마지막으로 확인됨
2026년 6월 9일
추가 정보
이 연구와 관련된 용어
키워드
추가 관련 MeSH 약관
기타 연구 ID 번호
- 150130
- 15-HG-0130
약물 및 장치 정보, 연구 문서
미국 FDA 규제 의약품 연구
아니
미국 FDA 규제 기기 제품 연구
아니
이 정보는 변경 없이 clinicaltrials.gov 웹사이트에서 직접 가져온 것입니다. 귀하의 연구 세부 정보를 변경, 제거 또는 업데이트하도록 요청하는 경우 register@clinicaltrials.gov. 문의하십시오. 변경 사항이 clinicaltrials.gov에 구현되는 즉시 저희 웹사이트에도 자동으로 업데이트됩니다. .
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