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Molecular Cell|September 15, 2015
USP7 Acts as a Molecular Rheostat to Promote WASH-Dependent Endosomal Protein Recycling and Is Mutated in a Human Neurodevelopmental DisorderYi-Heng Hao, Michael D Fountain, Klementina Fon Tacer, et al.Genes, Chromosomes & Cancer|July 31, 2021
Assigning evidence to actionability: An introduction to variant interpretation in precision cancer medicinePeter Horak, Jonas Leichsenring, Hannah Goldschmid, et al.Genetics in Medicine : Official Journal of the American College of Medical Genetics|March 11, 2016
The complex behavioral phenotype of 15q13.3 microdeletion syndromeMark N Ziats, Robin P Goin-Kochel, Leandra N Berry, et al.Nature Genetics|March 14, 2017
Germline mutations in ABL1 cause an autosomal dominant syndrome characterized by congenital heart defects and skeletal malformationsXia Wang, Wu-Lin Charng, Chun-An Chen, et al.European Journal of Human Genetics : EJHG|August 26, 2010
Duplications of FOXG1 in 14q12 are associated with developmental epilepsy, mental retardation, and severe speech impairmentNicola Brunetti-Pierri, Alex R Paciorkowski, Roberto Ciccone, et al.Iscience|March 5, 2024
ProteoMixture: A cell type deconvolution tool for bulk tissue proteomic dataPang-Ning Teng, Joshua P Schaaf, Tamara Abulez, et al.European Journal of Human Genetics : EJHG|May 24, 2012
Phenotypic spectrum and genotype-phenotype correlations of NRXN1 exon deletionsChristian P Schaaf, Philip M Boone, Srirangan Sampath, et al.Nature Communications|February 24, 2023
An analgesic pathway from parvocellular oxytocin neurons to the periaqueductal gray in ratsMai Iwasaki, Arthur Lefevre, Ferdinand Althammer, et al.Genetics in Medicine : Official Journal of the American College of Medical Genetics|April 9, 2021
Variants in PRKAR1B cause a neurodevelopmental disorder with autism spectrum disorder, apraxia, and insensitivity to painFelix Marbach, Georgi Stoyanov, Florian Erger, et al.American Journal of Human Genetics|January 28, 2014
NR2F1 mutations cause optic atrophy with intellectual disabilityDaniëlle G M Bosch, F Nienke Boonstra, Claudia Gonzaga-Jauregui, et al.Pageof 23