M. Sheridan

发表

Myoclonus‐dystonia and Silver–Russell syndrome resulting from maternal uniparental disomy of chromosome 7

Z. Mari, A. Telegrafi, D. Batista, 2013, Clinical genetics.

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

Mark J. Bowser, Jonathan H. Chung, E. Zackai, 2011, Human mutation.

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

Stephan Eliez, Tingwei Guo, Xiaowu Gai, 2015, American journal of human genetics.

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

Deanne M. Taylor, E. Zackai, K. Coleman, 2016, Human Genetics.

Copy-Number Variation of the Glucose Transporter Gene SLC 2 A 3 and Congenital Heart Defects in the 22 q 11 . 2 Deletion Syndrome

E. Zackai, T. Shaikh, K. Coleman, 2022 .

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

T. Louis, T. Beaty, H. Dietz, 2021, bioRxiv.

The impact of chromosomal microarray on clinical management: a retrospective analysis

J. Hoover-Fong, Elizabeth S Wohler, Molly B. Sheridan, 2014, Genetics in Medicine.

The Use of High-Density SNP Array to Map Homozygosity in Consanguineous Families to Efficiently Identify Candidate Genes: Application to Woodhouse-Sakati Syndrome

J. Hoover-Fong, Elizabeth S Wohler, Molly B. Sheridan, 2015, Case reports in genetics.

Gross genomic rearrangements involving deletions in the CFTR gene: characterization of six new events from a large cohort of hitherto unidentified cystic fibrosis chromosomes and meta-analysis of the underlying mechanisms

P. Pignatti, D. Cooper, R. Williamson, 2006, European Journal of Human Genetics.

A palindrome-mediated recurrent translocation with 3:1 meiotic nondisjunction: the t(8;22)(q24.13;q11.21).

E. Zackai, C. Haldeman-Englert, T. Shaikh, 2010, American journal of human genetics.

Mutations in the beta-subunit of the epithelial Na+ channel in patients with a cystic fibrosis-like syndrome.

G. Cutting, Molly B. Sheridan, M. Knowles, 2005, Human molecular genetics.

CFTR transcription defects in pancreatic sufficient cystic fibrosis patients with only one mutation in the coding region of CFTR

C. Merlo, G. Cutting, Molly B. Sheridan, 2010, Journal of Medical Genetics.

Phenotypic and genetic characterization of patients with features of "nonclassic" forms of cystic fibrosis.

M. Fallin, G. Cutting, Molly B. Sheridan, 2005, The Journal of pediatrics.

A candidate gene approach to identify modifiers of the palatal phenotype in 22q11.2 deletion syndrome patients.

Mark J. Bowser, E. Zackai, B. Morrow, 2013, International journal of pediatric otorhinolaryngology.

Functional Assays Are Essential for Interpretation of Missense Variants Associated with Variable Expressivity.

G. Cutting, Molly B. Sheridan, P. Sosnay, 2018, American journal of human genetics.

Overt cleft palate phenotype and TBX1 genotype correlations in velo‐cardio‐facial/DiGeorge/22q11.2 deletion syndrome patients

Mark J. Bowser, Jonathan H. Chung, E. Zackai, 2012, American journal of medical genetics. Part A.

Analysis of the t(3;8) of hereditary renal cell carcinoma: a palindrome-mediated translocation.

B. Emanuel, H. Kurahashi, T. Glover, 2014, Cancer genetics.

CFTR transcription defects in pancreatic sufficient cystic fibrosis patients with only one mutation in the coding region of CFTR

C. Merlo, G. Cutting, T. Hefferon, 2010, Journal of Medical Genetics.

Myoclonus‐dystonia and Silver–Russell syndrome resulting from maternal uniparental disomy of chromosome 7

Z. Mari, A. Telegrafi, D. Batista, 2013, Clinical genetics.