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Genetics in Medicine : Official Journal of the American College of Medical Genetics|February 3, 2017
Clinical and molecular consequences of disease-associated de novo mutations in SATB2Hemant Bengani, Mark Handley, Mohsan Alvi, et al.Human Molecular Genetics|January 31, 2015
Mosaic structural variation in children with developmental disordersDaniel A King, Wendy D Jones, Yanick J Crow, et al.Nature Medicine|March 17, 2023
Genetic association analysis of 77,539 genomes reveals rare disease etiologiesDaniel Greene, , Daniela Pirri, et al.European Journal of Human Genetics : EJHG|January 10, 2019
Duplication of 10q24 locus: broadening the clinical and radiological spectrumMuriel Holder-Espinasse, Aleksander Jamsheer, Fabienne Escande, et al.Nature Genetics|September 24, 2013
Mutations in genes encoding the cadherin receptor-ligand pair DCHS1 and FAT4 disrupt cerebral cortical developmentSilvia Cappello, Mary J Gray, Caroline Badouel, et al.Nature Genetics|February 19, 2008
A recurrent 15q13.3 microdeletion syndrome associated with mental retardation and seizuresAndrew J Sharp, Heather C Mefford, Kelly Li, et al.European Journal of Human Genetics : EJHG|January 16, 2014
Myhre and LAPS syndromes: clinical and molecular review of 32 patientsCaroline Michot, Carine Le Goff, Clémentine Mahaut, et al.Journal of Clinical Medicine|February 2, 2021
Congenital Diarrhea and Cholestatic Liver Disease: Phenotypic Spectrum Associated with MYO5B MutationsDenise Aldrian, Georg F Vogel, Teresa K Frey, et al.European Journal of Human Genetics : EJHG|January 13, 2021
Comprehensive study of 28 individuals with SIN3A-related disorder underscoring the associated mild cognitive and distinctive facial phenotypeMeena Balasubramanian, Alexander J M Dingemans, Shadi Albaba, et al.Neurology|January 23, 2015
Novel mutations expand the clinical spectrum of DYNC1H1-associated spinal muscular atrophyMariacristina Scoto, Alexander M Rossor, Matthew B Harms, et al.Pageof 16