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Genetics in Medicine : Official Journal of the American College of Medical Genetics|January 22, 2024
Diagnostic utility and reporting recommendations for clinical DNA methylation episignature testing in genetically undiagnosed rare diseasesJennifer Kerkhof, Cassandra Rastin, Michael A Levy, et al.
NPJ Genomic Medicine|November 9, 2021
Deficiency of TET3 leads to a genome-wide DNA hypermethylation episignature in human whole bloodMichael A Levy, David B Beck, Kay Metcalfe, et al.
American Journal of Medical Genetics. Part A|June 15, 2011
Spectrum of MLL2 (ALR) mutations in 110 cases of Kabuki syndromeMark C Hannibal, Kati J Buckingham, Sarah B Ng, et al.
American Journal of Human Genetics|June 23, 2023
Null and missense mutations of ERI1 cause a recessive phenotypic dichotomy in humansLong Guo, Smrithi Salian, Jing-Yi Xue, et al.
American Journal of Human Genetics|August 4, 2023
HNRNPC haploinsufficiency affects alternative splicing of intellectual disability-associated genes and causes a neurodevelopmental disorderEva Niggl, Arjan Bouman, Lauren C Briere, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|June 11, 2021
Haploinsufficiency of ARFGEF1 is associated with developmental delay, intellectual disability, and epilepsy with variable expressivityQuentin Thomas, Thierry Gautier, Dana Marafi, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|December 15, 2021
Elucidating the clinical spectrum and molecular basis of HYAL2 deficiencyJames Fasham, Siying Lin, Promita Ghosh, et al.
Medrxiv : the Preprint Server for Health Sciences|October 7, 2024
Biallelic variants in <i>DAP3</i> result in reduced assembly of the mitoribosomal small subunit with altered intrinsic and extrinsic apoptosis and a Perrault syndrome-spectrum phenotypeThomas B Smith, Robert Kopajtich, Leigh A M Demain, et al.
American Journal of Human Genetics|February 29, 2020
Opposite Modulation of RAC1 by Mutations in TRIO Is Associated with Distinct, Domain-Specific Neurodevelopmental DisordersSónia Barbosa, Stephanie Greville-Heygate, Maxime Bonnet, et al.
American Journal of Human Genetics|December 9, 2017
ACTB Loss-of-Function Mutations Result in a Pleiotropic Developmental DisorderSara Cuvertino, Helen M Stuart, Kate E Chandler, et al.
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