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Human Mutation|May 16, 2021
Dissection of contiguous gene effects for deletions around ERF on chromosome 19Eduardo Calpena, Simon J McGowan, Fiona Blanco Kelly, et al.Genetics and Molecular Biology|August 26, 2016
1p13.2 deletion displays clinical features overlapping Noonan syndrome, likely related to NRAS gene haploinsufficiencyNatália Duarte Linhares, Maíra Cristina Menezes Freire, Raony Guimarães Corrêa do Carmo Lisboa Cardenas, et al.Neuromuscular Disorders : NMD|April 26, 2011
King-Denborough syndrome with and without mutations in the skeletal muscle ryanodine receptor (RYR1) geneJames J Dowling, Suzanne Lillis, Kimberley Amburgey, et al.Molecular and Cellular Endocrinology|November 21, 2012
New insights into thyroglobulin gene: molecular analysis of seven novel mutations associated with goiter and hypothyroidismCintia E Citterio, Gloria A Machiavelli, Mirta B Miras, et al.Cell Stem Cell|April 16, 2019
Modeling the Pathological Long-Range Regulatory Effects of Human Structural Variation with Patient-Specific hiPSCsMagdalena Laugsch, Michaela Bartusel, Rizwan Rehimi, et al.American Journal of Medical Genetics. Part C, Seminars in Medical Genetics|November 13, 2019
Null variants and deletions in BRWD3 cause an X-linked syndrome of mild-moderate intellectual disability, macrocephaly, and obesity: A series of 17 patientsPhilip J Ostrowski, Anna Zachariou, Chey Loveday, et al.Human Mutation|October 13, 2018
Gene-specific criteria for PTEN variant curation: Recommendations from the ClinGen PTEN Expert PanelJessica L Mester, Rajarshi Ghosh, Tina Pesaran, et al.Plos One|November 22, 2022
Monoallelic variants resulting in substitutions of MAB21L1 Arg51 Cause Aniridia and microphthalmiaHildegard Nikki Hall, Hemant Bengani, Robert B Hufnagel, et al.Clinical Genetics|January 23, 2019
Deep phenotyping of 14 new patients with IQSEC2 variants, including monozygotic twins of discordant phenotypeJessica A Radley, Rory B G O'Sullivan, Sarah E Turton, et al.American Journal of Medical Genetics. Part A|March 15, 2016
Cerebro-costo-mandibular syndrome: Clinical, radiological, and genetic findingsMadeleine Tooley, Danielle Lynch, Francois Bernier, et al.Pageof 9