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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.
Orphanet Journal of Rare Diseases|May 7, 2013
Brittle cornea syndrome: recognition, molecular diagnosis and managementEmma M M Burkitt Wright, Louise F Porter, Helen L Spencer, et al.
Genome Research|December 21, 2013
A novel method for detecting uniparental disomy from trio genotypes identifies a significant excess in children with developmental disordersDaniel A King, Tomas W Fitzgerald, Ray Miller, et al.
Proceedings of the National Academy of Sciences of the United States of America|July 28, 2025
Rare variants in BMAL1 are associated with a neurodevelopmental syndromeVishnu Anand Cuddapah, Dechun Chen, Bumsik Cho, et al.
Archives of Disease in Childhood|September 5, 2019
Exome sequencing in patients with antiepileptic drug exposure and complex phenotypesAdam Jackson, Heather Ward, Rebecca Louise Bromley, et al.
European Journal of Human Genetics : EJHG|June 5, 2008
Interstitial 22q13 deletions: genes other than SHANK3 have major effects on cognitive and language developmentHeather L Wilson, John A Crolla, Dena Walker, 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.
Molecular Genetics & Genomic Medicine|September 26, 2017
Protein structure and phenotypic analysis of pathogenic and population missense variants in STXBP1Mohnish Suri, Jochem M G Evers, Roman A Laskowski, et al.
The Journal of Clinical Investigation|May 15, 2025
Genetic variants predisposing to increased risk of kidney stone diseaseCatherine E Lovegrove, Michelle Goldsworthy, Jeremy Haley, et al.
American Journal of Medical Genetics. Part A|August 12, 2011
Pierpont syndrome: a collaborative studyEmma M M Burkitt Wright, Mohnish Suri, Susan M White, et al.
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