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European Journal of Medical Genetics|April 27, 2018
Extending the clinical and genetic spectrum of ARID2 related intellectual disability. A case series of 7 patientsGabriella Gazdagh, Moira Blyth, Ingrid Scurr, et al.
Molecular Genetics & Genomic Medicine|November 16, 2019
Variable neurodevelopmental and morphological phenotypes of carriers with 12q12 duplicationsLynnea Myers, Moira Blyth, Kamran Moradkhani, et al.
European Journal of Human Genetics : EJHG|May 7, 2015
Chromosome 22q12.1 microdeletions: confirmation of the MN1 gene as a candidate gene for cleft palateJeroen Breckpot, Britt-Marie Anderlid, Yasemin Alanay, et al.
Clinical Dysmorphology|July 29, 2016
Rubinstein-Taybi syndrome type 2: report of nine new cases that extend the phenotypic and genotypic spectrumMark J Hamilton, Ruth Newbury-Ecob, Muriel Holder-Espinasse, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|October 9, 2020
Heterozygous lamin B1 and lamin B2 variants cause primary microcephaly and define a novel laminopathyDavid A Parry, Carol-Anne Martin, Philip Greene, et al.
Journal of Medical Genetics|November 7, 2015
Deletions and de novo mutations of SOX11 are associated with a neurodevelopmental disorder with features of Coffin-Siris syndromeAnnmarie Hempel, Alistair T Pagnamenta, Moira Blyth, 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.
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.
Human Mutation|February 12, 2019
Cerebral hypomyelination associated with biallelic variants of FIG4Guy M Lenk, Ian R Berry, Chloe A Stutterd, et al.
American Journal of Human Genetics|October 12, 2023
Rare de novo gain-of-function missense variants in DOT1L are associated with developmental delay and congenital anomaliesZelha Nil, Ashish R Deshwar, Yan Huang, et al.
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