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

Year Number of Results
1979 1
1981 1
1983 1
1989 2
1990 1
1993 1
1994 1
1995 1
1996 3
1999 4
2000 2
2001 2
2002 1
2003 3
2004 2
2005 3
2006 5
2007 7
2008 3
2009 5
2010 7
2011 9
2012 3
2013 4
2014 3
2015 4
2016 3
2017 3
2018 4
2019 4
2020 3
2021 1
2022 1
2023 2
2024 1

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91 results

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Page 1
ZMIZ1 Variants Cause a Syndromic Neurodevelopmental Disorder.
Carapito R, Ivanova EL, Morlon A, Meng L, Molitor A, Erdmann E, Kieffer B, Pichot A, Naegely L, Kolmer A, Paul N, Hanauer A, Tran Mau-Them F, Jean-Marçais N, Hiatt SM, Cooper GM, Tvrdik T, Muir AM, Dimartino C, Chopra M, Amiel J, Gordon CT, Dutreux F, Garde A, Thauvin-Robinet C, Wang X, Leduc MS, Phillips M, Crawford HP, Kukolich MK, Hunt D, Harrison V, Kharbanda M; Deciphering Developmental Disorders Study; University of Washington Center for Mendelian Genomics; Smigiel R, Gold N, Hung CY, Viskochil DH, Dugan SL, Bayrak-Toydemir P, Joly-Helas G, Guerrot AM, Schluth-Bolard C, Rio M, Wentzensen IM, McWalter K, Schnur RE, Lewis AM, Lalani SR, Mensah-Bonsu N, Céraline J, Sun Z, Ploski R, Bacino CA, Mefford HC, Faivre L, Bodamer O, Chelly J, Isidor B, Bahram S. Carapito R, et al. Among authors: viskochil dh. Am J Hum Genet. 2019 Feb 7;104(2):319-330. doi: 10.1016/j.ajhg.2018.12.007. Epub 2019 Jan 10. Am J Hum Genet. 2019. PMID: 30639322 Free PMC article.
Mutations in KEOPS-complex genes cause nephrotic syndrome with primary microcephaly.
Braun DA, Rao J, Mollet G, Schapiro D, Daugeron MC, Tan W, Gribouval O, Boyer O, Revy P, Jobst-Schwan T, Schmidt JM, Lawson JA, Schanze D, Ashraf S, Ullmann JFP, Hoogstraten CA, Boddaert N, Collinet B, Martin G, Liger D, Lovric S, Furlano M, Guerrera IC, Sanchez-Ferras O, Hu JF, Boschat AC, Sanquer S, Menten B, Vergult S, De Rocker N, Airik M, Hermle T, Shril S, Widmeier E, Gee HY, Choi WI, Sadowski CE, Pabst WL, Warejko JK, Daga A, Basta T, Matejas V, Scharmann K, Kienast SD, Behnam B, Beeson B, Begtrup A, Bruce M, Ch'ng GS, Lin SP, Chang JH, Chen CH, Cho MT, Gaffney PM, Gipson PE, Hsu CH, Kari JA, Ke YY, Kiraly-Borri C, Lai WM, Lemyre E, Littlejohn RO, Masri A, Moghtaderi M, Nakamura K, Ozaltin F, Praet M, Prasad C, Prytula A, Roeder ER, Rump P, Schnur RE, Shiihara T, Sinha MD, Soliman NA, Soulami K, Sweetser DA, Tsai WH, Tsai JD, Topaloglu R, Vester U, Viskochil DH, Vatanavicharn N, Waxler JL, Wierenga KJ, Wolf MTF, Wong SN, Leidel SA, Truglio G, Dedon PC, Poduri A, Mane S, Lifton RP, Bouchard M, Kannu P, Chitayat D, Magen D, Callewaert B, van Tilbeurgh H, Zenker M, Antignac C, Hildebrandt F. Braun DA, et al. Among authors: viskochil dh. Nat Genet. 2017 Oct;49(10):1529-1538. doi: 10.1038/ng.3933. Epub 2017 Aug 14. Nat Genet. 2017. PMID: 28805828 Free PMC article.
BCL11A-Related Intellectual Disability.
Peron A, Bradbury K, Viskochil DH, Dias C. Peron A, et al. Among authors: viskochil dh. 2019 Sep 26. In: Adam MP, Feldman J, Mirzaa GM, Pagon RA, Wallace SE, Bean LJH, Gripp KW, Amemiya A, editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993–2024. 2019 Sep 26. In: Adam MP, Feldman J, Mirzaa GM, Pagon RA, Wallace SE, Bean LJH, Gripp KW, Amemiya A, editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993–2024. PMID: 31556984 Free Books & Documents. Review.
Intranasal Carbetocin Reduces Hyperphagia, Anxiousness, and Distress in Prader-Willi Syndrome: CARE-PWS Phase 3 Trial.
Roof E, Deal CL, McCandless SE, Cowan RL, Miller JL, Hamilton JK, Roeder ER, McCormack SE, Roshan Lal TR, Abdul-Latif HD, Haqq AM, Obrynba KS, Torchen LC, Vidmar AP, Viskochil DH, Chanoine JP, Lam CKL, Pierce MJ, Williams LL, Bird LM, Butler MG, Jensen DE, Myers SE, Oatman OJ, Baskaran C, Chalmers LJ, Fu C, Alos N, McLean SD, Shah A, Whitman BY, Blumenstein BA, Leonard SF, Ernest JP, Cormier JW, Cotter SP, Ryman DC. Roof E, et al. Among authors: viskochil dh. J Clin Endocrinol Metab. 2023 Jun 16;108(7):1696-1708. doi: 10.1210/clinem/dgad015. J Clin Endocrinol Metab. 2023. PMID: 36633570 Free PMC article. Clinical Trial.
Atelencephalic aprosencephaly.
Harris CP, Townsend JJ, Norman MG, White VA, Viskochil DH, Pysher TJ, Klatt EC. Harris CP, et al. Among authors: viskochil dh. J Child Neurol. 1994 Oct;9(4):412-6. doi: 10.1177/088307389400900416. J Child Neurol. 1994. PMID: 7822735
Status of the human malformation map: 2002.
Carey JC, Viskochil DH. Carey JC, et al. Among authors: viskochil dh. Am J Med Genet. 2002 Dec 30;115(4):205-20. doi: 10.1002/ajmg.10987. Am J Med Genet. 2002. PMID: 12503116 Review. No abstract available.
Skeletal abnormalities in neurofibromatosis type 1: approaches to therapeutic options.
Elefteriou F, Kolanczyk M, Schindeler A, Viskochil DH, Hock JM, Schorry EK, Crawford AH, Friedman JM, Little D, Peltonen J, Carey JC, Feldman D, Yu X, Armstrong L, Birch P, Kendler DL, Mundlos S, Yang FC, Agiostratidou G, Hunter-Schaedle K, Stevenson DA. Elefteriou F, et al. Among authors: viskochil dh. Am J Med Genet A. 2009 Oct;149A(10):2327-38. doi: 10.1002/ajmg.a.33045. Am J Med Genet A. 2009. PMID: 19764036 Review.
Disorders of the ras pathway: an introduction.
Viskochil DH. Viskochil DH. Am J Med Genet C Semin Med Genet. 2011 May 15;157C(2):79-82. doi: 10.1002/ajmg.c.30301. Epub 2011 Apr 14. Am J Med Genet C Semin Med Genet. 2011. PMID: 21495180 No abstract available.
NF1 Somatic Mutation in Dystrophic Scoliosis.
Margraf RL, VanSant-Webb C, Mao R, Viskochil DH, Carey J, Hanson H, D'Astous J, Grossmann A, Stevenson DA. Margraf RL, et al. Among authors: viskochil dh. J Mol Neurosci. 2019 May;68(1):11-18. doi: 10.1007/s12031-019-01277-0. Epub 2019 Feb 18. J Mol Neurosci. 2019. PMID: 30778836
A likely HOXC4 predisposition variant for Chiari malformations.
Brockmeyer DL, Cheshier SH, Stevens J, Facelli JC, Rowe K, Heiss JD, Musolf A, Viskochil DH, Allen-Brady KL, Cannon-Albright LA. Brockmeyer DL, et al. Among authors: viskochil dh. J Neurosurg. 2022 Nov 25;139(1):266-274. doi: 10.3171/2022.10.JNS22956. Print 2023 Jul 1. J Neurosurg. 2022. PMID: 36433874 Free PMC article.
91 results