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232 results

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Variants in STXBP3 are Associated with Very Early Onset Inflammatory Bowel Disease, Bilateral Sensorineural Hearing Loss and Immune Dysregulation.
Ouahed J, Kelsen JR, Spessott WA, Kooshesh K, Sanmillan ML, Dawany N, Sullivan KE, Hamilton KE, Slowik V, Nejentsev S, Neves JF, Flores H, Chung WK, Wilson A, Anyane-Yeboa K, Wou K, Jain P, Field M, Tollefson S, Dent MH, Li D, Naito T, McGovern DPB, Kwong AC, Taliaferro F, Ordovas-Montanes J, Horwitz BH, Kotlarz D, Klein C, Evans J, Dorsey J, Warner N, Elkadri A, Muise AM, Goldsmith J, Thompson B, Engelhardt KR, Cant AJ, Hambleton S, Barclay A, Toth-Petroczy A, Vuzman D, Carmichael N, Bodea C, Cassa CA, Devoto M, Maas RL, Behrens EM, Giraudo CG, Snapper SB. Ouahed J, et al. Among authors: maas rl. J Crohns Colitis. 2021 Nov 8;15(11):1908-1919. doi: 10.1093/ecco-jcc/jjab077. J Crohns Colitis. 2021. PMID: 33891011 Free PMC article.
An integrated clinical program and crowdsourcing strategy for genomic sequencing and Mendelian disease gene discovery.
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, Söylemez 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). Haghighi A, et al. Among authors: maas rl. NPJ Genom Med. 2018 Aug 13;3:21. doi: 10.1038/s41525-018-0060-9. eCollection 2018. NPJ Genom Med. 2018. PMID: 30131872 Free PMC article. Review.
An argument for early genomic sequencing in atypical cases: a WISP3 variant leads to diagnosis of progressive pseudorheumatoid arthropathy of childhood.
Cassa CA, Smith SE, Docken W, Hoffman E, McLaughlin H, Chun S, Leshchiner I, Miraoui H, Raychaudhuri S, Frank NY, Wilson BJ, Sunyaev SR, Maas RL; Brigham Genomic Medicine; Vuzman D. Cassa CA, et al. Among authors: maas rl. Rheumatology (Oxford). 2016 Mar;55(3):586-9. doi: 10.1093/rheumatology/kev367. Epub 2015 Oct 22. Rheumatology (Oxford). 2016. PMID: 26493744 Free PMC article. No abstract available.
Inherited CHST11/MIR3922 deletion is associated with a novel recessive syndrome presenting with skeletal malformation and malignant lymphoproliferative disease.
Chopra SS, Leshchiner I, Duzkale H, McLaughlin H, Giovanni M, Zhang C, Stitziel N, Fingeroth J, Joyce RM, Lebo M, Rehm H, Vuzman D, Maas R, Sunyaev SR, Murray M, Cassa CA. Chopra SS, et al. Mol Genet Genomic Med. 2015 Sep;3(5):413-23. doi: 10.1002/mgg3.152. Epub 2015 May 10. Mol Genet Genomic Med. 2015. PMID: 26436107 Free PMC article.
Clinical sites of the Undiagnosed Diseases Network: unique contributions to genomic medicine and science.
Schoch K, Esteves C, Bican A, Spillmann R, Cope H, McConkie-Rosell A, Walley N, Fernandez L, Kohler JN, Bonner D, Reuter C, Stong N, Mulvihill JJ, Novacic D, Wolfe L, Abdelbaki A, Toro C, Tifft C, Malicdan M, Gahl W, Liu P, Newman J, Goldstein DB, Hom J, Sampson J, Wheeler MT; Undiagnosed Diseases Network; Cogan J, Bernstein JA, Adams DR, McCray AT, Shashi V. Schoch K, et al. Genet Med. 2021 Feb;23(2):259-271. doi: 10.1038/s41436-020-00984-z. Epub 2020 Oct 23. Genet Med. 2021. PMID: 33093671 Free PMC article.
A description of novel variants and review of phenotypic spectrum in UBA5-related early epileptic encephalopathy.
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. Briere LC, et al. Cold Spring Harb Mol Case Stud. 2021 Jun 11;7(3):a005827. doi: 10.1101/mcs.a005827. Print 2021 Jun. Cold Spring Harb Mol Case Stud. 2021. PMID: 33811063 Free PMC article.
232 results