Atypical deletion of 22q11.2: Detection using the FISH TBX1 probe and molecular characterization with high-density SNP arrays
M Beaujard(Sorbonne Université), Marie‐France Portnoï(Inserm), M Vodovar(Institut de Soudure), Sandra Whalen(Sorbonne Université), Jean‐Pierre Siffroi(Sorbonne Université), Philippe Mabboux(Sorbonne Université), Sandra Chantot‐Bastaraud(Fondation de Rothschild), Wassila Carpentier(MACOM (United States)), M Dubois(Institut de Soudure), Boris Keren(Sorbonne Université)
Cited by 34
Related Papers
In Vitro Fertilization May Increase the Risk of Beckwith-Wiedemann Syndrome Related to the Abnormal Imprinting of the KCNQ1OT Gene
|The American Journal of Human Genetics|2003|518
Evaluation of DNA Methylation Episignatures for Diagnosis and Phenotype Correlations in 42 Mendelian Neurodevelopmental Disorders
|The American Journal of Human Genetics|2020|334
<i>GRIN2B</i> encephalopathy: novel findings on phenotype, variant clustering, functional consequences and treatment aspects
|Journal of Medical Genetics|2017|254
Human Male Infertility Associated with Mutations in NR5A1 Encoding Steroidogenic Factor 1
|The American Journal of Human Genetics|2010|247
KIF7 mutations cause fetal hydrolethalus and acrocallosal syndromes
|Nature Genetics|2011|244