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Human Molecular Genetics|August 13, 2003
A genomic rearrangement resulting in a tandem duplication is associated with split hand-split foot malformation 3 (SHFM3) at 10q24Xavier J de Mollerat, Fiorella Gurrieri, Chad T Morgan, et al.
Orphanet Journal of Rare Diseases|June 30, 2017
Spinocerebellar ataxia type 29 due to mutations in ITPR1: a case series and review of this emerging congenital ataxiaJessica L Zambonin, Allison Bellomo, Hilla Ben-Pazi, et al.
Clinical Epigenetics|April 29, 2019
Gene domain-specific DNA methylation episignatures highlight distinct molecular entities of ADNP syndromeEric G Bend, Erfan Aref-Eshghi, David B Everman, et al.
Human Mutation|January 31, 2020
BAZ2B haploinsufficiency as a cause of developmental delay, intellectual disability, and autism spectrum disorderTiana M Scott, Hui Guo, Evan E Eichler, et al.
American Journal of Human Genetics|June 5, 2013
Mutations in PDGFRB cause autosomal-dominant infantile myofibromatosisJohn A Martignetti, Lifeng Tian, Dong Li, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|November 18, 2022
DNA methylation episignature for Witteveen-Kolk syndrome due to SIN3A haploinsufficiencyJet Coenen-van der Spek, Raissa Relator, Jennifer Kerkhof, et al.
The New England Journal of Medicine|July 29, 2011
A mosaic activating mutation in AKT1 associated with the Proteus syndromeMarjorie J Lindhurst, Julie C Sapp, Jamie K Teer, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|February 23, 2018
Autosomal recessive Noonan syndrome associated with biallelic LZTR1 variantsJennifer J Johnston, Jasper J van der Smagt, Jill A Rosenfeld, et al.
Human Mutation|March 7, 2014
Mutations in the human UBR1 gene and the associated phenotypic spectrumMaja Sukalo, Ariane Fiedler, Celina Guzmán, et al.
Human Molecular Genetics|May 23, 2022
SEMA6B variants cause intellectual disability and alter dendritic spine density and axon guidanceAmélie Cordovado, Martina Schaettin, Médéric Jeanne, et al.
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