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Nature Reviews. Genetics|April 23, 2020
A framework for an evidence-based gene list relevant to autism spectrum disorderChristian P Schaaf, Catalina Betancur, Ryan K C Yuen, et al.
American Journal of Human Genetics|August 23, 2016
De Novo Truncating Variants in SON Cause Intellectual Disability, Congenital Malformations, and Failure to ThriveMari J Tokita, Alicia A Braxton, Yunru Shao, et al.
Genome Research|May 10, 2013
NAHR-mediated copy-number variants in a clinical population: mechanistic insights into both genomic disorders and Mendelizing traitsPiotr Dittwald, Tomasz Gambin, Przemyslaw Szafranski, et al.
Clinical Proteomics|January 23, 2024
Mapping three-dimensional intratumor proteomic heterogeneity in uterine serous carcinoma by multiregion microsamplingAllison L Hunt, Nicholas W Bateman, Waleed Barakat, et al.
NPJ Precision Oncology|October 26, 2023
NCT/DKFZ MASTER handbook of interpreting whole-genome, transcriptome, and methylome data for precision oncologyAndreas Mock, Maria-Veronica Teleanu, Simon Kreutzfeldt, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|December 21, 2023
DNA methylation episignature, extension of the clinical features, and comparative epigenomic profiling of Hao-Fountain syndrome caused by variants in USP7Liselot van der Laan, Karim Karimi, Kathleen Rooney, et al.
Plos Genetics|November 5, 2020
A complementary study approach unravels novel players in the pathoetiology of Hirschsprung diseaseTanja Mederer, Stefanie Schmitteckert, Julia Volz, et al.
Human Mutation|January 12, 2016
De Novo Truncating Mutations in the Kinetochore-Microtubules Attachment Gene CHAMP1 Cause Syndromic Intellectual DisabilityBertrand Isidor, Sébastien Küry, Jill A Rosenfeld, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|March 22, 2014
Mutations in NGLY1 cause an inherited disorder of the endoplasmic reticulum-associated degradation pathwayGregory M Enns, Vandana Shashi, Matthew Bainbridge, et al.
Frontiers in Cell and Developmental Biology|February 2, 2023
PHIP-associated Chung-Jansen syndrome: Report of 23 new individualsAntje Kampmeier, Elsa Leitão, Ilaria Parenti, et al.
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