S. W. Cheung

发表

Interchromosomal template-switching as a novel molecular mechanism for imprinting perturbations associated with Temple syndrome

P. Stankiewicz, C. Shaw, J. Lupski, 2019, Genome Medicine.

Delineation of a 1.65 Mb critical region for hemihyperplasia and digital anomalies on Xq25

P. Fang, D. Scott, Ruchi Masand, 2010, American journal of medical genetics. Part A.

CNVs cause autosomal recessive genetic diseases with or without involvement of SNV/indels

A. Breman, J. Lupski, R. Gibbs, 2020, Genetics in Medicine.

Identification of novel candidate disease genes from de novo exonic copy number variants

J. Rosenfeld, P. Stankiewicz, A. Breman, 2017, Genome Medicine.

Prenatal diagnosis of PLP1 copy number by array comparative genomic hybridization

J. Lupski, S. Cheung, P. Ward, 2005, Prenatal diagnosis.

A new microdeletion syndrome involving TBC1D24, ATP6V0C, and PDPK1 causes epilepsy, microcephaly, and developmental delay

J. Gécz, S. Sisodiya, E. Lemyre, 2018, Genetics in Medicine.

Expanding the genotype–phenotype correlation in subtelomeric 19p13.3 microdeletions using high resolution clinical chromosomal microarray analysis

P. Stankiewicz, Ankita Patel, S. Cheung, 2013, American journal of medical genetics. Part A.

A de novo 1.58 Mb deletion, including MAP2K6 and mapping 1.28 Mb upstream to SOX9, identified in a patient with Pierre Robin sequence and osteopenia with multiple fractures

P. Stankiewicz, P. Szafranski, E. Roeder, 2015, American journal of medical genetics. Part A.

Complex genomic rearrangement of chromosome 16p13.3 detected by array comparative genomic hybridization in a patient with multiple congenital anomalies, dysmorphic craniofacial features, and developmental delay

Z. Ou, P. Stankiewicz, S. Cheung, 2011, American journal of medical genetics. Part A.

Expanding the genotype–phenotype correlation in subtelomeric 19p13.3 microdeletions using high resolution clinical chromosomal microarray analysis

P. Stankiewicz, Ankita Patel, M. Bull, 2013, American journal of medical genetics. Part A.

Microduplications of 22q11.2 are frequently inherited and are associated with variable phenotypes

Z. Ou, E. Roeder, V. Enciso, 2008, Genetics in Medicine.

Interstitial deletion of 10p and atrial septal defect in DiGeorge 2 syndrome

P. Stankiewicz, J. Lupski, S. Cheung, 2004, Clinical genetics.

Syndromic thrombocytopenia and predisposition to acute myelogenous leukemia caused by constitutional microdeletions on chromosome 21q.

M. Shinawi, A. Chinault, Brendan H. Lee, 2008, Blood.