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American Journal of Medical Genetics. Part A|April 2, 2020
Wolff-Parkinson-White syndrome: De novo variants and evidence for mutational burden in genes associated with atrial fibrillationZeynep H Coban-Akdemir, Wu-Lin Charng, Mahshid Azamian, et al.Brain : a Journal of Neurology|December 4, 2019
Deficiencies in vesicular transport mediated by TRAPPC4 are associated with severe syndromic intellectual disabilityNicole J Van Bergen, Yiran Guo, Noraldin Al-Deri, et al.American Journal of Human Genetics|June 18, 2013
Mutations in GDP-mannose pyrophosphorylase B cause congenital and limb-girdle muscular dystrophies associated with hypoglycosylation of α-dystroglycanKeren J Carss, Elizabeth Stevens, A Reghan Foley, et al.American Journal of Human Genetics|October 22, 2019
Bi-allelic Pathogenic Variants in TUBGCP2 Cause Microcephaly and Lissencephaly Spectrum DisordersTadahiro Mitani, Jaya Punetha, Ibrahim Akalin, et al.American Journal of Human Genetics|November 1, 2019
Homozygous Missense Variants in NTNG2, Encoding a Presynaptic Netrin-G2 Adhesion Protein, Lead to a Distinct Neurodevelopmental DisorderCaroline M Dias, Jaya Punetha, Céline Zheng, et al.American Journal of Human Genetics|June 25, 2019
The Genomics of Arthrogryposis, a Complex Trait: Candidate Genes and Further Evidence for Oligogenic InheritanceDavut Pehlivan, Yavuz Bayram, Nilay Gunes, et al.American Journal of Human Genetics|September 28, 2021
High prevalence of multilocus pathogenic variation in neurodevelopmental disorders in the Turkish populationTadahiro Mitani, Sedat Isikay, Alper Gezdirici, et al.Human Molecular Genetics|January 20, 2026
SUPT16H-associated neurodevelopmental disorder and neurocristopathy: genetic and phenotypic spectrumEunhye Lee, Seungmin Sim, Hee-Jung Choi, et al.Medrxiv : the Preprint Server for Health Sciences|March 18, 2026
Familial medullary thyroid carcinoma secondary to an <i>SLC30A9</i> intragenic deletion and translation reinitiationDonato Iacovazzo, Federica Begalli, Oniz Suleyman, et al.Human Mutation|December 3, 2021
The clinical and molecular spectrum of QRICH1 associated neurodevelopmental disorderSmitha Kumble, Amanda M Levy, Jaya Punetha, et al.Pageof 4