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American Journal of Human Genetics|March 5, 2017
CpG Methylation, a Parent-of-Origin Effect for Maternal-Biased Transmission of Congenital Myotonic DystrophyLise Barbé, Stella Lanni, Arturo López-Castel, et al.
Gastroenterology|February 24, 2010
Mutations in TTC37 cause trichohepatoenteric syndrome (phenotypic diarrhea of infancy)Jane Louise Hartley, Nicholas C Zachos, Ban Dawood, et al.
Diabetes|November 10, 2020
Pancreatic β-Cell-Specific Deletion of VPS41 Causes Diabetes Due to Defects in Insulin SecretionChristian H Burns, Belinda Yau, Anjelica Rodriguez, et al.
Nature Genetics|May 10, 2011
Mutations in CEP57 cause mosaic variegated aneuploidy syndromeKatie Snape, Sandra Hanks, Elise Ruark, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|October 9, 2018
De novo missense variants in RAC3 cause a novel neurodevelopmental syndromeGregory Costain, Bert Callewaert, Heinz Gabriel, et al.
American Journal of Human Genetics|January 1, 2013
Whole-genome analysis reveals that mutations in inositol polyphosphate phosphatase-like 1 cause opsismodysplasiaJennifer E Below, Dawn L Earl, Kathryn M Shively, et al.
Human Mutation|February 24, 2011
BBS genotype-phenotype assessment of a multiethnic patient cohort calls for a revision of the disease definitionCatherine Deveault, Gail Billingsley, Jacque L Duncan, et al.
American Journal of Medical Genetics. Part A|April 9, 2023
Biallelic variants in TUBGCP6 result in microcephaly and chorioretinopathy 1: Report of four cases and a literature reviewAmanda Thomas-Wilson, John P Schacht, David Chitayat, et al.
Human Molecular Genetics|May 2, 2019
Human IFT52 mutations uncover a novel role for the protein in microtubule dynamics and centrosome cohesionMarie Alice Dupont, Camille Humbert, Céline Huber, et al.
Prenatal Diagnosis|November 20, 2022
Prenatal phenotyping of fetal tubulinopathies: A multicenter retrospective case seriesBobby K Brar, Marisa Gilstrop Thompson, Neeta L Vora, et al.
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