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American Journal of Human Genetics|November 9, 2010
Deletion 17q12 is a recurrent copy number variant that confers high risk of autism and schizophreniaDaniel Moreno-De-Luca, , Jennifer G Mulle, et al.Genetics in Medicine : Official Journal of the American College of Medical Genetics|May 13, 2016
Recommendations for the integration of genomics into clinical practiceSarah Bowdin, Adel Gilbert, Emma Bedoukian, et al.Genetics in Medicine : Official Journal of the American College of Medical Genetics|August 31, 2018
Clinical exome sequencing reveals locus heterogeneity and phenotypic variability of cohesinopathiesBo Yuan, Juanita Neira, Davut Pehlivan, et al.American Journal of Human Genetics|April 19, 2023
POLR1A variants underlie phenotypic heterogeneity in craniofacial, neural, and cardiac anomaliesKelly Smallwood, Kristin E N Watt, Satoru Ide, et al.American Journal of Human Genetics|July 3, 2021
Targeted long-read sequencing identifies missing disease-causing variationDanny E Miller, Arvis Sulovari, Tianyun Wang, et al.Orphanet Journal of Rare Diseases|June 17, 2020
Mowat-Wilson syndrome: growth chartsIvan Ivanovski, Olivera Djuric, Serena Broccoli, et al.Genetics in Medicine : Official Journal of the American College of Medical Genetics|November 11, 2016
Neuroimaging findings in Mowat-Wilson syndrome: a study of 54 patientsLivia Garavelli, Ivan Ivanovski, Stefano Giuseppe Caraffi, et al.Journal of Clinical Immunology|September 23, 2024
Biallelic PI4KA Mutations Disrupt B-Cell Metabolism and Cause B-Cell Lymphopenia and HypogammaglobulinemiaFrancesco Saettini, Fabiola Guerra, Mario Mauri, et al.American Journal of Human Genetics|January 8, 2021
A dyadic approach to the delineation of diagnostic entities in clinical genomicsLeslie G Biesecker, Margaret P Adam, Fowzan S Alkuraya, et al.American Journal of Human Genetics|September 21, 2022
An HNRNPK-specific DNA methylation signature makes sense of missense variants and expands the phenotypic spectrum of Au-Kline syndromeSanaa Choufani, Vanda McNiven, Cheryl Cytrynbaum, et al.Pageof 54