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Molly B. Sheridan

University of Pennsylvania

11

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228

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Accurate assignment of disease liability to genetic variants using only population data

2021 Genetics in Medicine
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Rare copy number variants and congenital heart defects in the 22q11.2 deletion syndrome

2016 Human Genetics
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Copy-Number Variation of the Glucose Transporter Gene SLC2A3 and Congenital Heart Defects in the 22q11.2 Deletion Syndrome

2015 American Journal of Human Genetics
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Analysis of the t(3;8) of hereditary renal cell carcinoma: a palindrome-mediated translocation

2014 Cancer Genetics and Cytogenetics
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A candidate gene approach to identify modifiers of the palatal phenotype in 22q11.2 deletion syndrome patients

2013 International Journal of Pediatric Otorhinolaryngology
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Overt cleft palate phenotype and TBX1 genotype correlations in velo‐cardio‐facial/DiGeorge/22q11.2 deletion syndrome patients

2012 American Journal of Medical Genetics Part A
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CFTR transcription defects in pancreatic sufficient cystic fibrosis patients with only one mutation in the coding region of CFTR

2011 Journal of Medical Genetics
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The 22q11.2 Deletion Syndrome: Second Hit Copy Number Variants and Conotruncal Heart Defects

2011
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Genotype and cardiovascular phenotype correlations with TBX1 in 1,022 velo-cardio-facial/DiGeorge/22q11.2 deletion syndrome patients.

2011 Human Mutation
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