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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.Human Mutation|October 15, 2008
Molecular investigations to improve diagnostic accuracy in patients with ARC syndromeAndrew R Cullinane, Anna Straatman-Iwanowska, Jeong K Seo, et al.Cell Stem Cell|August 19, 2020
Intrinsic Endocardial Defects Contribute to Hypoplastic Left Heart SyndromeYifei Miao, Lei Tian, Marcy Martin, et al.Brain : a Journal of Neurology|March 27, 2015
PMPCA mutations cause abnormal mitochondrial protein processing in patients with non-progressive cerebellar ataxiaRebekah K Jobling, Mirna Assoum, Oleksandr Gakh, et al.American Journal of Human Genetics|February 3, 2007
Mutations in STRA6 cause a broad spectrum of malformations including anophthalmia, congenital heart defects, diaphragmatic hernia, alveolar capillary dysplasia, lung hypoplasia, and mental retardationFrancesca Pasutto, Heinrich Sticht, Gerhard Hammersen, et al.Journal of Medical Genetics|January 22, 2013
Deletions in 16q24.2 are associated with autism spectrum disorder, intellectual disability and congenital renal malformationGregory Ryan Handrigan, David Chitayat, Anath C Lionel, et al.Genetics in Medicine : Official Journal of the American College of Medical Genetics|December 21, 2017
Genomic study of severe fetal anomalies and discovery of GREB1L mutations in renal agenesisSarah Boissel, Catherine Fallet-Bianco, David Chitayat, et al.Epilepsia|April 30, 2013
Clinical spectrum of early onset epileptic encephalopathies caused by KCNQ2 mutationMitsuhiro Kato, Takanori Yamagata, Masaya Kubota, et al.Journal of the National Comprehensive Cancer Network : JNCCN|November 15, 2024
Proportion of Gleason Score ≥8 Prostate Cancer on Biopsy and Tumor Aggressiveness in Matched Cohorts of East Asian and Non-East Asian MenLiang Dong, Katherine Lajkosz, Rafael Sanchez-Salas, et al.Pageof 53