Skip to main page content
U.S. flag

An official website of the United States government

Dot gov

The .gov means it’s official.
Federal government websites often end in .gov or .mil. Before sharing sensitive information, make sure you’re on a federal government site.

Https

The site is secure.
The https:// ensures that you are connecting to the official website and that any information you provide is encrypted and transmitted securely.

Access keys NCBI Homepage MyNCBI Homepage Main Content Main Navigation

Search Page

Filters

My Custom Filters

Publication date

Text availability

Article attribute

Article type

Additional filters

Article Language

Species

Sex

Age

Other

Search Results

227 results

Filters applied: . Clear all
Results are displayed in a computed author sort order. The Publication Date timeline is not available.
Page 1
Clustered mutations in the GRIK2 kainate receptor subunit gene underlie diverse neurodevelopmental disorders.
Stolz JR, Foote KM, Veenstra-Knol HE, Pfundt R, Ten Broeke SW, de Leeuw N, Roht L, Pajusalu S, Part R, Rebane I, Õunap K, Stark Z, Kirk EP, Lawson JA, Lunke S, Christodoulou J, Louie RJ, Rogers RC, Davis JM, Innes AM, Wei XC, Keren B, Mignot C, Lebel RR, Sperber SM, Sakonju A, Dosa N, Barge-Schaapveld DQCM, Peeters-Scholte CMPCD, Ruivenkamp CAL, van Bon BW, Kennedy J, Low KJ, Ellard S, Pang L, Junewick JJ, Mark PR, Carvill GL, Swanson GT. Stolz JR, et al. Among authors: stark z. Am J Hum Genet. 2021 Sep 2;108(9):1692-1709. doi: 10.1016/j.ajhg.2021.07.007. Epub 2021 Aug 9. Am J Hum Genet. 2021. PMID: 34375587 Free PMC article.
Homozygous and compound-heterozygous mutations in TGDS cause Catel-Manzke syndrome.
Ehmke N, Caliebe A, Koenig R, Kant SG, Stark Z, Cormier-Daire V, Wieczorek D, Gillessen-Kaesbach G, Hoff K, Kawalia A, Thiele H, Altmüller J, Fischer-Zirnsak B, Knaus A, Zhu N, Heinrich V, Huber C, Harabula I, Spielmann M, Horn D, Kornak U, Hecht J, Krawitz PM, Nürnberg P, Siebert R, Manzke H, Mundlos S. Ehmke N, et al. Among authors: stark z. Am J Hum Genet. 2014 Dec 4;95(6):763-70. doi: 10.1016/j.ajhg.2014.11.004. Am J Hum Genet. 2014. PMID: 25480037 Free PMC article.
De Novo Loss-of-Function Mutations in USP9X Cause a Female-Specific Recognizable Syndrome with Developmental Delay and Congenital Malformations.
Reijnders MR, Zachariadis V, Latour B, Jolly L, Mancini GM, Pfundt R, Wu KM, van Ravenswaaij-Arts CM, Veenstra-Knol HE, Anderlid BM, Wood SA, Cheung SW, Barnicoat A, Probst F, Magoulas P, Brooks AS, Malmgren H, Harila-Saari A, Marcelis CM, Vreeburg M, Hobson E, Sutton VR, Stark Z, Vogt J, Cooper N, Lim JY, Price S, Lai AH, Domingo D, Reversade B; DDD Study; Gecz J, Gilissen C, Brunner HG, Kini U, Roepman R, Nordgren A, Kleefstra T. Reijnders MR, et al. Among authors: stark z. Am J Hum Genet. 2016 Feb 4;98(2):373-81. doi: 10.1016/j.ajhg.2015.12.015. Epub 2016 Jan 28. Am J Hum Genet. 2016. PMID: 26833328 Free PMC article.
A clinically driven variant prioritization framework outperforms purely computational approaches for the diagnostic analysis of singleton WES data.
Stark Z, Dashnow H, Lunke S, Tan TY, Yeung A, Sadedin S, Thorne N, Macciocca I, Gaff C; Melbourne Genomics Health Alliance; Oshlack A, White SM, James PA. Stark Z, et al. Eur J Hum Genet. 2017 Nov;25(11):1268-1272. doi: 10.1038/ejhg.2017.123. Epub 2017 Aug 23. Eur J Hum Genet. 2017. PMID: 28832562 Free PMC article.
De novo mutations in HNRNPU result in a neurodevelopmental syndrome.
Yates TM, Vasudevan PC, Chandler KE, Donnelly DE, Stark Z, Sadedin S, Willoughby J; Broad Center for Mendelian Genomics; DDD study; Balasubramanian M. Yates TM, et al. Among authors: stark z. Am J Med Genet A. 2017 Nov;173(11):3003-3012. doi: 10.1002/ajmg.a.38492. Epub 2017 Sep 25. Am J Med Genet A. 2017. PMID: 28944577 Free PMC article.
ACTB Loss-of-Function Mutations Result in a Pleiotropic Developmental Disorder.
Cuvertino S, Stuart HM, Chandler KE, Roberts NA, Armstrong R, Bernardini L, Bhaskar S, Callewaert B, Clayton-Smith J, Davalillo CH, Deshpande C, Devriendt K, Digilio MC, Dixit A, Edwards M, Friedman JM, Gonzalez-Meneses A, Joss S, Kerr B, Lampe AK, Langlois S, Lennon R, Loget P, Ma DYT, McGowan R, Des Medt M, O'Sullivan J, Odent S, Parker MJ, Pebrel-Richard C, Petit F, Stark Z, Stockler-Ipsiroglu S, Tinschert S, Vasudevan P, Villa O, White SM, Zahir FR; DDD Study; Woolf AS, Banka S. Cuvertino S, et al. Among authors: stark z. Am J Hum Genet. 2017 Dec 7;101(6):1021-1033. doi: 10.1016/j.ajhg.2017.11.006. Am J Hum Genet. 2017. PMID: 29220674 Free PMC article.
Severe neurocognitive and growth disorders due to variation in THOC2, an essential component of nuclear mRNA export machinery.
Kumar R, Gardner A, Homan CC, Douglas E, Mefford H, Wieczorek D, Lüdecke HJ, Stark Z, Sadedin S; Broad CMG; Nowak CB, Douglas J, Parsons G, Mark P, Loidi L, Herman GE, Mihalic Mosher T, Gillespie MK, Brady L, Tarnopolsky M, Madrigal I, Eiris J, Domènech Salgado L, Rabionet R, Strom TM, Ishihara N, Inagaki H, Kurahashi H, Dudding-Byth T, Palmer EE, Field M, Gecz J. Kumar R, et al. Among authors: stark z. Hum Mutat. 2018 Aug;39(8):1126-1138. doi: 10.1002/humu.23557. Epub 2018 Jun 14. Hum Mutat. 2018. PMID: 29851191 Free PMC article.
227 results