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Table representation of search results timeline featuring number of search results per year.

Year Number of Results
1976 2
1977 1
1978 2
1979 1
1980 2
1981 1
1982 10
1983 3
1984 3
1985 8
1986 7
1987 11
1988 12
1989 10
1990 7
1991 10
1992 3
1993 15
1994 7
1995 10
1996 6
1997 7
1998 11
1999 9
2000 11
2001 21
2002 15
2003 7
2004 17
2005 17
2006 11
2007 12
2008 10
2009 15
2010 21
2011 35
2012 34
2013 23
2014 25
2015 24
2016 42
2017 55
2018 46
2019 31
2020 33
2021 22
2022 16
2023 10
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Article type
Publication date

Search Results

635 results
Results by year
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Page 1
Somatic Mutations in UBA1 and Severe Adult-Onset Autoinflammatory Disease.
Beck DB, Ferrada MA, Sikora KA, Ombrello AK, Collins JC, Pei W, Balanda N, Ross DL, Ospina Cardona D, Wu Z, Patel B, Manthiram K, Groarke EM, Gutierrez-Rodrigues F, Hoffmann P, Rosenzweig S, Nakabo S, Dillon LW, Hourigan CS, Tsai WL, Gupta S, Carmona-Rivera C, Asmar AJ, Xu L, Oda H, Goodspeed W, Barron KS, Nehrebecky M, Jones A, Laird RS, Deuitch N, Rowczenio D, Rominger E, Wells KV, Lee CR, Wang W, Trick M, Mullikin J, Wigerblad G, Brooks S, Dell'Orso S, Deng Z, Chae JJ, Dulau-Florea A, Malicdan MCV, Novacic D, Colbert RA, Kaplan MJ, Gadina M, Savic S, Lachmann HJ, Abu-Asab M, Solomon BD, Retterer K, Gahl WA, Burgess SM, Aksentijevich I, Young NS, Calvo KR, Werner A, Kastner DL, Grayson PC. Beck DB, et al. Among authors: gahl wa. N Engl J Med. 2020 Dec 31;383(27):2628-2638. doi: 10.1056/NEJMoa2026834. Epub 2020 Oct 27. N Engl J Med. 2020. PMID: 33108101 Free PMC article.
Lysosomal storage diseases.
Ferreira CR, Gahl WA. Ferreira CR, et al. Among authors: gahl wa. Transl Sci Rare Dis. 2017 May 25;2(1-2):1-71. doi: 10.3233/TRD-160005. Transl Sci Rare Dis. 2017. PMID: 29152458 Free PMC article. Review.
Hermansky-Pudlak syndrome: Mutation update.
Huizing M, Malicdan MCV, Wang JA, Pri-Chen H, Hess RA, Fischer R, O'Brien KJ, Merideth MA, Gahl WA, Gochuico BR. Huizing M, et al. Among authors: gahl wa. Hum Mutat. 2020 Mar;41(3):543-580. doi: 10.1002/humu.23968. Epub 2020 Jan 23. Hum Mutat. 2020. PMID: 31898847 Free PMC article.
Hermansky-Pudlak Syndrome.
Introne WJ, Huizing M, Malicdan MCV, O'Brien KJ, Gahl WA. Introne WJ, et al. Among authors: gahl wa. 2000 Jul 24 [updated 2023 Mar 16]. In: Adam MP, Mirzaa GM, Pagon RA, Wallace SE, Bean LJH, Gripp KW, Amemiya A, editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993–2023. 2000 Jul 24 [updated 2023 Mar 16]. In: Adam MP, Mirzaa GM, Pagon RA, Wallace SE, Bean LJH, Gripp KW, Amemiya A, editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993–2023. PMID: 20301464 Free Books & Documents. Review.
Desperately seeking solutions.
Gahl WA, Perry M. Gahl WA, et al. Genet Med. 2022 Dec;24(12):2419-2421. doi: 10.1016/j.gim.2022.08.018. Epub 2022 Sep 16. Genet Med. 2022. PMID: 36112139 No abstract available.
KMT2B-related disorders: expansion of the phenotypic spectrum and long-term efficacy of deep brain stimulation.
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, François 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… See abstract for full author list ➔ Cif L, et al. Among authors: gahl wa. Brain. 2020 Dec 5;143(11):3242-3261. doi: 10.1093/brain/awaa304. Brain. 2020. PMID: 33150406 Free PMC article.
Diverse and Targetable Kinase Alterations Drive Histiocytic Neoplasms.
Diamond EL, Durham BH, Haroche J, Yao Z, Ma J, Parikh SA, Wang Z, Choi J, Kim E, Cohen-Aubart F, Lee SC, Gao Y, Micol JB, Campbell P, Walsh MP, Sylvester B, Dolgalev I, Aminova O, Heguy A, Zappile P, Nakitandwe J, Ganzel C, Dalton JD, Ellison DW, Estrada-Veras J, Lacouture M, Gahl WA, Stephens PJ, Miller VA, Ross JS, Ali SM, Briggs SR, Fasan O, Block J, Héritier S, Donadieu J, Solit DB, Hyman DM, Baselga J, Janku F, Taylor BS, Park CY, Amoura Z, Dogan A, Emile JF, Rosen N, Gruber TA, Abdel-Wahab O. Diamond EL, et al. Among authors: gahl wa. Cancer Discov. 2016 Feb;6(2):154-65. doi: 10.1158/2159-8290.CD-15-0913. Epub 2015 Nov 13. Cancer Discov. 2016. PMID: 26566875 Free PMC article.
Human genome meeting 2016 : Houston, TX, USA. 28 February - 2 March 2016.
Srivastava AK, Wang Y, Huang R, Skinner C, Thompson T, Pollard L, Wood T, Luo F, Stevenson R, Polimanti R, Gelernter J, Lin X, Lim IY, Wu Y, Teh AL, Chen L, Aris IM, Soh SE, Tint MT, MacIsaac JL, Yap F, Kwek K, Saw SM, Kobor MS, Meaney MJ, Godfrey KM, Chong YS, Holbrook JD, Lee YS, Gluckman PD, Karnani N; GUSTO study group; Kapoor A, Lee D, Chakravarti A, Maercker C, Graf F, Boutros M, Stamoulis G, Santoni F, Makrythanasis P, Letourneau A, Guipponi M, Panousis N, Garieri M, Ribaux P, Falconnet E, Borel C, Antonarakis SE, Kumar S, Curran J, Blangero J, Chatterjee S, Kapoor A, Akiyama J, Auer D, Berrios C, Pennacchio L, Chakravarti A, Donti TR, Cappuccio G, Miller M, Atwal P, Kennedy A, Cardon A, Bacino C, Emrick L, Hertecant J, Baumer F, Porter B, Bainbridge M, Bonnen P, Graham B, Sutton R, Sun Q, Elsea S, Hu Z, Wang P, Zhu Y, Zhao J, Xiong M, Bennett DA, Hidalgo-Miranda A, Romero-Cordoba S, Rodriguez-Cuevas S, Rebollar-Vega R, Tagliabue E, Iorio M, D’Ippolito E, Baroni S, Kaczkowski B, Tanaka Y, Kawaji H, Sandelin A, Andersson R, Itoh M, Lassmann T; The FANTOM5 Consortium; Hayashizaki Y, Carninci P, Forrest ARR, Semple CA, Rosenthal EA, Shirts B, Amendola L, Gallego C, Horike-Pyne… See abstract for full author list ➔ Srivastava AK, et al. Among authors: gahl w. Hum Genomics. 2016 May 26;10 Suppl 1(Suppl 1):12. doi: 10.1186/s40246-016-0063-5. Hum Genomics. 2016. PMID: 27294413 Free PMC article.
DNA variations in oculocutaneous albinism: an updated mutation list and current outstanding issues in molecular diagnostics.
Simeonov DR, Wang X, Wang C, Sergeev Y, Dolinska M, Bower M, Fischer R, Winer D, Dubrovsky G, Balog JZ, Huizing M, Hart R, Zein WM, Gahl WA, Brooks BP, Adams DR. Simeonov DR, et al. Among authors: gahl wa. Hum Mutat. 2013 Jun;34(6):827-35. doi: 10.1002/humu.22315. Epub 2013 Apr 30. Hum Mutat. 2013. PMID: 23504663 Free PMC article. Review.
Engulfed.
Gahl WA. Gahl WA. Mol Genet Metab. 2006 Mar;87(3):190-3. doi: 10.1016/j.ymgme.2005.10.005. Epub 2005 Dec 5. Mol Genet Metab. 2006. PMID: 16330232
635 results