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Science (New York, N.Y.)|March 5, 2016
Health and population effects of rare gene knockouts in adult humans with related parentsVagheesh M Narasimhan, Karen A Hunt, Dan Mason, et al.Nature Communications|January 22, 2019
Author Correction: Genome-wide association study identifies susceptibility loci for B-cell childhood acute lymphoblastic leukemiaJayaram Vijayakrishnan, James Studd, Peter Broderick, et al.American Journal of Human Genetics|April 9, 2016
Biallelic Mutations in PDE10A Lead to Loss of Striatal PDE10A and a Hyperkinetic Movement Disorder with Onset in InfancyChristine P Diggle, Stacey J Sukoff Rizzo, Michael Popiolek, et al.Nature Genetics|April 24, 2012
Mutations in ISPD cause Walker-Warburg syndrome and defective glycosylation of α-dystroglycanTony Roscioli, Erik-Jan Kamsteeg, Karen Buysse, et al.Neuron|November 21, 2020
Mutations in Spliceosomal Genes PPIL1 and PRP17 Cause Neurodegenerative Pontocerebellar Hypoplasia with MicrocephalyGuoliang Chai, Alice Webb, Chen Li, et al.Nature Communications|April 11, 2018
Genome-wide association study identifies susceptibility loci for B-cell childhood acute lymphoblastic leukemiaJayaram Vijayakrishnan, James Studd, Peter Broderick, et al.Gastroenterology|June 28, 2015
Diagnosis of Constitutional Mismatch Repair-Deficiency Syndrome Based on Microsatellite Instability and Lymphocyte Tolerance to Methylating AgentsSahra Bodo, Chrystelle Colas, Olivier Buhard, et al.Brain : a Journal of Neurology|February 5, 2010
Glucose transporter-1 deficiency syndrome: the expanding clinical and genetic spectrum of a treatable disorderWilhelmina G Leen, Joerg Klepper, Marcel M Verbeek, et al.American Journal of Human Genetics|July 30, 2013
ZMYND10 is mutated in primary ciliary dyskinesia and interacts with LRRC6Maimoona A Zariwala, Heon Yung Gee, Małgorzata Kurkowiak, et al.Genetics in Medicine : Official Journal of the American College of Medical Genetics|June 6, 2019
PEDIA: prioritization of exome data by image analysisTzung-Chien Hsieh, Martin A Mensah, Jean T Pantel, et al.Pageof 8