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Human complete NFAT1 deficiency causes a triad of joint contractures, osteochondromas, and B-cell malignancy.
Sharma M, Fu MP, Lu HY, Sharma AA, Modi BP, Michalski C, Lin S, Dalmann J, Salman A, Del Bel KL, Waqas M, Terry J, Setiadi A, Lavoie PM, Wasserman WW, Mwenifumbo J, Kobor MS, Lee AF, Kuchenbauer F, Lehman A, Cheng S, Cooper A, Patel MS, Turvey SE. Sharma M, et al. Among authors: wasserman ww. Blood. 2022 Oct 27;140(17):1858-1874. doi: 10.1182/blood.2022015674. Blood. 2022. PMID: 35789258 Free article.
DNA methylation profiling in human Huntington's disease brain.
De Souza RA, Islam SA, McEwen LM, Mathelier A, Hill A, Mah SM, Wasserman WW, Kobor MS, Leavitt BR. De Souza RA, et al. Among authors: wasserman ww. Hum Mol Genet. 2016 May 15;25(10):2013-2030. doi: 10.1093/hmg/ddw076. Epub 2016 Mar 6. Hum Mol Genet. 2016. PMID: 26953320
Exome Sequencing and the Management of Neurometabolic Disorders.
Tarailo-Graovac M, Shyr C, Ross CJ, Horvath GA, Salvarinova R, Ye XC, Zhang LH, Bhavsar AP, Lee JJ, Drögemöller BI, Abdelsayed M, Alfadhel M, Armstrong L, Baumgartner MR, Burda P, Connolly MB, Cameron J, Demos M, Dewan T, Dionne J, Evans AM, Friedman JM, Garber I, Lewis S, Ling J, Mandal R, Mattman A, McKinnon M, Michoulas A, Metzger D, Ogunbayo OA, Rakic B, Rozmus J, Ruben P, Sayson B, Santra S, Schultz KR, Selby K, Shekel P, Sirrs S, Skrypnyk C, Superti-Furga A, Turvey SE, Van Allen MI, Wishart D, Wu J, Wu J, Zafeiriou D, Kluijtmans L, Wevers RA, Eydoux P, Lehman AM, Vallance H, Stockler-Ipsiroglu S, Sinclair G, Wasserman WW, van Karnebeek CD. Tarailo-Graovac M, et al. Among authors: wasserman ww. N Engl J Med. 2016 Jun 9;374(23):2246-55. doi: 10.1056/NEJMoa1515792. Epub 2016 May 25. N Engl J Med. 2016. PMID: 27276562 Free PMC article.
Glutaminase Deficiency Caused by Short Tandem Repeat Expansion in GLS.
van Kuilenburg ABP, Tarailo-Graovac M, Richmond PA, Drögemöller BI, Pouladi MA, Leen R, Brand-Arzamendi K, Dobritzsch D, Dolzhenko E, Eberle MA, Hayward B, Jones MJ, Karbassi F, Kobor MS, Koster J, Kumari D, Li M, MacIsaac J, McDonald C, Meijer J, Nguyen C, Rajan-Babu IS, Scherer SW, Sim B, Trost B, Tseng LA, Turkenburg M, van Vugt JJFA, Veldink JH, Walia JS, Wang Y, van Weeghel M, Wright GEB, Xu X, Yuen RKC, Zhang J, Ross CJ, Wasserman WW, Geraghty MT, Santra S, Wanders RJA, Wen XY, Waterham HR, Usdin K, van Karnebeek CDM. van Kuilenburg ABP, et al. Among authors: wasserman ww. N Engl J Med. 2019 Apr 11;380(15):1433-1441. doi: 10.1056/NEJMoa1806627. N Engl J Med. 2019. PMID: 30970188 Free PMC article.
JASPAR 2020: update of the open-access database of transcription factor binding profiles.
Fornes O, Castro-Mondragon JA, Khan A, van der Lee R, Zhang X, Richmond PA, Modi BP, Correard S, Gheorghe M, Baranašić D, Santana-Garcia W, Tan G, Chèneby J, Ballester B, Parcy F, Sandelin A, Lenhard B, Wasserman WW, Mathelier A. Fornes O, et al. Among authors: wasserman ww. Nucleic Acids Res. 2020 Jan 8;48(D1):D87-D92. doi: 10.1093/nar/gkz1001. Nucleic Acids Res. 2020. PMID: 31701148 Free PMC article.
Multi-Omic Approach to Identify Phenotypic Modifiers Underlying Cerebral Demyelination in X-Linked Adrenoleukodystrophy.
Richmond PA, van der Kloet F, Vaz FM, Lin D, Uzozie A, Graham E, Kobor M, Mostafavi S, Moerland PD, Lange PF, van Kampen AHC, Wasserman WW, Engelen M, Kemp S, van Karnebeek CDM. Richmond PA, et al. Among authors: wasserman ww. Front Cell Dev Biol. 2020 Jun 25;8:520. doi: 10.3389/fcell.2020.00520. eCollection 2020. Front Cell Dev Biol. 2020. PMID: 32671069 Free PMC article.
221 results