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Nature|October 15, 2020
Evidence for 28 genetic disorders discovered by combining healthcare and research dataJoanna Kaplanis, Kaitlin E Samocha, Laurens Wiel, et al.
American Journal of Human Genetics|November 3, 2015
Allelic Mutations of KITLG, Encoding KIT Ligand, Cause Asymmetric and Unilateral Hearing Loss and Waardenburg Syndrome Type 2Celia Zazo Seco, Luciana Serrão de Castro, Josephine W van Nierop, et al.
European Journal of Human Genetics : EJHG|December 22, 2016
The diagnostic yield of whole-exome sequencing targeting a gene panel for hearing impairment in The NetherlandsCelia Zazo Seco, Mieke Wesdorp, Ilse Feenstra, et al.
JAMA|July 25, 2020
Presence of Genetic Variants Among Young Men With Severe COVID-19Caspar I van der Made, Annet Simons, Janneke Schuurs-Hoeijmakers, et al.
European Journal of Human Genetics : EJHG|January 14, 2016
De novo loss-of-function mutations in WAC cause a recognizable intellectual disability syndrome and learning deficits in DrosophilaDorien Lugtenberg, Margot R F Reijnders, Michaela Fenckova, et al.
Human Mutation|October 15, 2013
A post-hoc comparison of the utility of sanger sequencing and exome sequencing for the diagnosis of heterogeneous diseasesKornelia Neveling, Ilse Feenstra, Christian Gilissen, et al.
Clinical Immunology (Orlando, Fla.)|October 6, 2024
Clinical exome sequencing data from patients with inborn errors of immunity: Cohort level diagnostic yield and the benefit of systematic reanalysisEmil E Vorsteveld, Caspar I Van der Made, Sanne P Smeekens, et al.
Human Mutation|November 12, 2014
Variants in CUL4B are associated with cerebral malformationsAnneke T Vulto-van Silfhout, Tadashi Nakagawa, Nadia Bahi-Buisson, et al.
Human Molecular Genetics|April 8, 2014
Activating mutations in RRAS underlie a phenotype within the RASopathy spectrum and contribute to leukaemogenesisElisabetta Flex, Mamta Jaiswal, Francesca Pantaleoni, et al.
Nature Communications|October 17, 2019
Disruptive mutations in TANC2 define a neurodevelopmental syndrome associated with psychiatric disordersHui Guo, Elisa Bettella, Paul C Marcogliese, et al.
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