S. Cheung

P. Stankiewicz, Z. Xia, Ankita Patel, 2010, American journal of medical genetics. Part B, Neuropsychiatric genetics : the official publication of the International Society of Psychiatric Genetics.

Intragenic deletions of the IGF1 receptor gene in five individuals with psychiatric phenotypes and developmental delay

P. Stankiewicz, P. Szafranski, S. Cheung, 2013, European Journal of Human Genetics.

DNA Methylation Profiling of Uniparental Disomy Subjects Provides a Map of Parental Epigenetic Bias in the Human Genome.

N. de Leeuw, U. Surti, A. Pagnamenta, 2016, American journal of human genetics.

Array‐based comparative genomic hybridization facilitates identification of breakpoints of a novel der(1)t(1;18)(p36.3;q23)dn in a child presenting with mental retardation

Z. Ou, M. L. Cooper, S. Cheung, 2006, 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.

Accurate description of DNA-based noninvasive prenatal screening.

Ankita Patel, S. Cheung, T. Leung, 2015, The New England journal of 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.

Evidence for involvement of TRE-2 (USP6) oncogene, low-copy repeat and acrocentric heterochromatin in two families with chromosomal translocations

L. Shaffer, Z. Ou, P. Stankiewicz, 2006, Human Genetics.

Parental somatic mosaicism is underrecognized and influences recurrence risk of genomic disorders.

L. Vissers, R. Pfundt, P. Stankiewicz, 2014, American journal of human genetics.

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.

Recurrent SOX9 deletion campomelic dysplasia due to somatic mosaicism in the father

P. Stankiewicz, S. Cheung, E. Obersztyn, 2007, American journal of medical genetics. Part A.

WAGR(O?) syndrome and congenital ptosis caused by an unbalanced t(11;15)(p13;p11.2)dn demonstrating a 7 megabase deletion by FISH

S. Cheung, D. Scott, S. Kirkpatrick, 2006, American journal of medical genetics. Part A.

Phenotypic association of 15q11.2 CNVs of the region of breakpoints 1–2 (BP1–BP2) in a large cohort of samples referred for genetic diagnosis

U. Surti, E. Cook, Z. Ou, 2018, Journal of Human Genetics.

Prenatal detection of 10q22q23 duplications: dilemmas in phenotype prediction

Yiu Man Chan, J. Rosenfeld, S. Cheung, 2016, Prenatal diagnosis.

A Case of Agonadism, Skeletal Malformations, Bicuspid Aortic Valve, and Delayed Development with a 16p13.3 Duplication Including GNG13 and SOX8 Upstream Enhancers: Are Either, Both or Neither Involved in the Phenotype?

S. Cheung, R. Erickson, S. Yatsenko, 2010, Molecular Syndromology.

Universal Prenatal Chromosomal Microarray Analysis: Additive Value and Clinical Dilemmas in Fetuses with a Normal Karyotype

Ankita Patel, S. Cheung, A. Beaudet, 2016, American Journal of Perinatology.

Delineation of a deletion region critical for corpus callosal abnormalities in chromosome 1q43–q44

P. Stankiewicz, Ankita Patel, S. Cheung, 2011, European Journal of Human Genetics.

Human subtelomeric copy number gains suggest a DNA replication mechanism for formation: beyond breakage–fusion–bridge for telomere stabilization

Ankita Patel, J. Lupski, S. Cheung, 2012, Human Genetics.

Deciphering the complexity of simple chromosomal insertions by genome sequencing

P. Stankiewicz, S. Cheung, K. Choy, 2020, Human Genetics.

A child with an inherited 0.31 Mb microdeletion of chromosome 14q32.33: Further delineation of a critical region for the 14q32 deletion syndrome

S. Cheung, C. Bacino, T. Lotze, 2012, American journal of medical genetics. Part A.

Xq28 Duplication Syndrome, Int22h1/Int22h2 Mediated

S. Cheung, C. Schaaf, A. El-Hattab, 2016 .

Deletion and duplication of 15q24: Molecular mechanisms and potential modification by additional copy number variants

J. Lupski, S. Cheung, F. Scaglia, 2010, Genetics in Medicine.

Loss of delta catenin function in severe autism

Ryan L. Collins, Stephan J Sanders, E. Cook, 2015, Nature.

Aberrations in pseudoautosomal regions (PARs) found in infertile men with Y-chromosome microdeletions.

S. Cheung, A. Sahin, D. Lamb, 2011, The Journal of clinical endocrinology and metabolism.

Comprehensive 5-year study of cytogenetic aberrations in 668 infertile men.

Ankita Patel, S. Cheung, M. Matzuk, 2010, The Journal of urology.

First trimester chorionic villus sampling versus mid‐trimester genetic amniocentesis‐preliminary results of a controlled prospective trial

S. Cheung, J. Crane, H. Beaver, 1988, Prenatal diagnosis.

Use of trophoblast cells in tissue culture for fetal chromosomal studies.

S. Cheung, F. Arias, J. Crane, 1983, American journal of obstetrics and gynecology.

Prenatal diagnosis of Wolf–Hirschhorn syndrome: from ultrasound findings, diagnostic technology to genetic counseling

S. Cheung, Yong Liu, J. Holder, 2018, Archives of Gynecology and Obstetrics.

Visualization of NORs in relation to the precise chromosomal localization of ribosomal RNA genes.

S. Cheung, T. Featherstone, L. Sun, 1989, Cytogenetics and cell genetics.

Identification of chromosome abnormalities in subtelomeric regions by microarray analysis: A study of 5,380 cases

P. Stankiewicz, L. Shao, Ankita Patel, 2008, American journal of medical genetics. Part A.

Array comparative genomic hybridization detects chromosomal abnormalities in hematological cancers that are not detected by conventional cytogenetics.

L. Shao, Ankita Patel, C. Shaw, 2010, The Journal of molecular diagnostics : JMD.

Clinical Implementation of Chromosomal Microarray Analysis: Summary of 2513 Postnatal Cases

Z. Ou, P. Stankiewicz, M. L. Cooper, 2007, PloS one.

Challenges in clinical interpretation of microduplications detected by array CGH analysis

P. Stankiewicz, S. Cheung, A. Pursley, 2010, American journal of medical genetics. Part A.

Molecular and clinical analyses of 16q24.1 duplications involving FOXF1 identify an evolutionarily unstable large minisatellite

P. Stankiewicz, P. Szafranski, S. Cheung, 2014, BMC Medical Genetics.

Detection of copy-number variation in AUTS2 gene by targeted exonic array CGH in patients with developmental delay and autistic spectrum disorders

P. Stankiewicz, Ankita Patel, S. Cheung, 2012, European Journal of Human Genetics.

Validation of a targeted DNA microarray for the clinical evaluation of recurrent abnormalities in chronic lymphocytic leukemia

A. C. Chinault, Ankita Patel, C. Shaw, 2008, American journal of hematology.

Haploinsufficiency of the E3 ubiquitin-protein ligase gene TRIP12 causes intellectual disability with or without autism spectrum disorders, speech delay, and dysmorphic features

J. Rosenfeld, P. Stankiewicz, P. Szafranski, 2017, Human Genetics.

Rare variants in the genetic background modulate cognitive and developmental phenotypes in individuals carrying disease-associated variants

J. Rosenfeld, M. Fichera, C. Romano, 2018, Genetics in Medicine.

Rare variants in the genetic background modulate the expressivity of neurodevelopmental disorders

J. Rosenfeld, M. Fichera, C. Romano, 2018, bioRxiv.

Genetics of Autism Spectrum Disorders: The Opportunity and Challenge in the Genetics Clinic

S. Cheung, Xiu Xu, Yong-hui Jiang, 2015 .

Genetic diagnosis of autism spectrum disorders: The opportunity and challenge in the genomics era

S. Cheung, K. Choy, Yi Wang, 2014, Critical reviews in clinical laboratory sciences.

15q13q14 deletions: Phenotypic characterization and molecular delineation by comparative genomic hybridization

S. Cheung, N. Brunetti‐Pierri, C. Chinault, 2008, American journal of medical genetics. Part A.

Role of genomic architecture in PLP1 duplication causing Pelizaeus-Merzbacher disease.

P. Stankiewicz, C. Shaw, J. Lupski, 2006, Human molecular genetics.

Chromosome 8p23.1 deletions as a cause of complex congenital heart defects and diaphragmatic hernia

A. Breman, S. Cheung, C. Bacino, 2009, American journal of medical genetics. Part A.

Speech delay and autism spectrum behaviors are frequently associated with duplication of the 7q11.23 Williams-Beuren syndrome region

K. Gunderson, Ankita Patel, J. Lupski, 2007, Genetics in Medicine.

Duplications of FOXG1 in 14q12 are associated with developmental epilepsy, mental retardation, and severe speech impairment

P. Stankiewicz, Z. Xia, S. Cheung, 2011, European Journal of Human Genetics.

A small recurrent deletion within 15q13.3 is associated with a range of neurodevelopmental phenotypes

P. Stankiewicz, Z. Xia, Ankita Patel, 2009, Nature Genetics.

22q11.2 distal deletion: a recurrent genomic disorder distinct from DiGeorge syndrome and velocardiofacial syndrome.

Jonathan Berg, Ankita Patel, Z. Ou, 2008, American journal of human genetics.

An Organismal CNV Mutator Phenotype Restricted to Early Human Development

Klaudia Walter, M. Hurles, P. Stankiewicz, 2017, Cell.

Increased MECP2 gene copy number as the result of genomic duplication in neurodevelopmentally delayed males

Ankita Patel, J. Lupski, S. Cheung, 2006, Genetics in Medicine.

20p12.3 microdeletion predisposes to Wolff–Parkinson–White syndrome with variable neurocognitive deficits

Z. Ou, P. Stankiewicz, A. C. Chinault, 2008, Journal of Medical Genetics.

Phenotypic manifestations of copy number variation in chromosome 16p13.11

P. Stankiewicz, E. Roeder, Ankita Patel, 2011, European Journal of Human Genetics.

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

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

Xp11.22 deletions encompassing CENPVL1, CENPVL2, MAGED1 and GSPT2 as a cause of syndromic X-linked intellectual disability

Mahshid S. Azamian, S. Cheung, S. Lalani, 2017, PloS one.

Genomic Imbalances in Neonates With Birth Defects: High Detection Rates by Using Chromosomal Microarray Analysis

P. Stankiewicz, P. Stankiewicz, Ankita Patel, 2008, Pediatrics.

OEIS complex associated with chromosome 1p36 deletion: A case report and review

A. Breman, Ankita Patel, S. Cheung, 2010, American journal of medical genetics. Part A.

Structures and molecular mechanisms for common 15q13.3 microduplications involving CHRNA7: benign or pathological?

P. Stankiewicz, Z. Xia, J. Wiszniewska, 2010, Human mutation.

Deletion of 7q31.1 supports involvement of FOXP2 in language impairment: Clinical report and review

K. Gunderson, M. L. Cooper, S. Cheung, 2007, American journal of medical genetics. Part A.

Prader-Willi phenotype caused by paternal deficiency for the HBII-85 C/D box small nucleolar RNA cluster

Marwan Shinawi, S. Cheung, A. Beaudet, 2008, Nature Genetics.

Genomic and clinical characteristics of microduplications in chromosome 17

J. Lupski, S. Cheung, O. Shchelochkov, 2010, American journal of medical genetics. Part A.

Genomic alterations that contribute to the development of isolated and non-isolated congenital diaphragmatic hernia

Anthony Johnson, Daryl A Scott, Thomas Schaible, 2011, Journal of Medical Genetics.

Direct chromosome preparations from chorionic villi: a method for obtaining extended chromosomes and recognizing mosaicism confined to the placenta.

S. Cheung, J. Crane, M. Cui, 1987, Cytogenetics and cell genetics.

Co-occurrence of recurrent duplications of the DiGeorge syndrome region on both chromosome 22 homologues due to inherited and de novo events

P. Stankiewicz, J. Wiszniewska, Ankita Patel, 2012, Journal of Medical Genetics.

Genomic duplication resulting in increased copy number of genes encoding the sister chromatid cohesion complex conveys clinical consequences distinct from Cornelia de Lange

A. C. Chinault, Ankita Patel, J. Lupski, 2008, Journal of Medical Genetics.

Parental somatic mosaicism for CNV deletions - A need for more sensitive and precise detection methods in clinical diagnostics settings.

Justyna A. Karolak, J. Rosenfeld, P. Stankiewicz, 2020, Genomics.

Copy number variant and runs of homozygosity detection by microarrays enabled more precise molecular diagnoses in 11,020 clinical exome cases

P. Stankiewicz, A. Breman, Ankita Patel, 2019, Genome Medicine.

Balanced Chromosomal Rearrangement Detection by Low‐Pass Whole‐Genome Sequencing

Hui Jiang, Fang Chen, Jun Wang, 2018, Current protocols in human genetics.

Identification of Balanced Chromosomal Rearrangements Previously Unknown Among Participants in the 1000 Genomes Project: Implications for Interpretation of Structural Variation in Genomes and the Future of Clinical Cytogenetics

Hui Jiang, Zhenjun Yang, Jianying Yuan, 2017, Genetics in Medicine.

Mechanisms for Complex Chromosomal Insertions

P. Stankiewicz, A. Breman, P. Szafranski, 2016, PLoS genetics.

Alu-mediated diverse and complex pathogenic copy-number variants within human chromosome 17 at p13.3.

P. Stankiewicz, Ankita Patel, C. Shaw, 2015, Human molecular genetics.

Recurrent HERV‐H‐Mediated 3q13.2–q13.31 Deletions Cause a Syndrome of Hypotonia and Motor, Language, and Cognitive Delays

J. Rosenfeld, L. Shaffer, P. Stankiewicz, 2013, Human mutation.

NAHR-mediated copy-number variants in a clinical population: Mechanistic insights into both genomic disorders and Mendelizing traits

J. Rosenfeld, P. Stankiewicz, A. Breman, 2013, Genome research.

Copy number gain at Xp22.31 includes complex duplication rearrangements and recurrent triplications.

P. Stankiewicz, J. Wiszniewska, M. L. Cooper, 2011, Human molecular genetics.

Complex rearrangements in patients with duplications of MECP2 can occur by fork stalling and template switching.

P. Stankiewicz, Ankita Patel, C. Shaw, 2009, Human molecular genetics.

Genomic and Genic Deletions of the FOX Gene Cluster on 16q24.1 and Inactivating Mutations of FOXF1 Cause Alveolar Capillary Dysplasia and Other Malformations

Tomas W. Fitzgerald, D. J. Driscoll, N. Carter, 2009, American journal of human genetics.

Increased LIS1 expression affects human and mouse brain development

K. Gunderson, J. Lupski, S. Cheung, 2009, Nature Genetics.

Development and validation of a CGH microarray for clinical cytogenetic diagnosis

Chad A Shaw, Ankita Patel, Z. Ou, 2005, Genetics in Medicine.

Low-pass genome sequencing versus chromosomal microarray analysis: implementation in prenatal diagnosis

S. Cheung, C. Morton, K. Choy, 2019, Genetics in Medicine.

Novel applications of array comparative genomic hybridization in molecular diagnostics

S. Cheung, W. Bi, 2018, Expert review of molecular diagnostics.

Application of DNA Microarray to Clinical Diagnostics.

Ankita Patel, S. Cheung, 2016, Methods in molecular biology.

Comparison of chromosome analysis and chromosomal microarray analysis: what is the value of chromosome analysis in today’s genomic array era?

P. Stankiewicz, Ankita Patel, C. Shaw, 2012, Genetics in Medicine.

Phenotypic spectrum and genotype–phenotype correlations of NRXN1 exon deletions

P. Stankiewicz, Ankita Patel, S. Cheung, 2012, European Journal of Human Genetics.

Comparative Genomic Hybridization in the Study of Human Disease

S. Cheung, A. Pursley, 2011 .

Early-onset seizures due to mosaic exonic deletions of CDKL5 in a male and two females

P. Stankiewicz, S. Cheung, E. Obersztyn, 2011, Genetics in Medicine.

Suspected trisomy 22: Modification, clarification, or confirmation of the diagnosis by aCGH

Ankita Patel, S. Cheung, J. Belmont, 2011, American journal of medical genetics. Part A.

Application of metaphase HR‐CGH and targeted chromosomal microarray analyses to genomic characterization of 116 patients with mental retardation and dysmorphic features

Z. Ou, P. Stankiewicz, S. Cheung, 2008, American journal of medical genetics. Part A.

Development of a focused oligonucleotide-array comparative genomic hybridization chip for clinical diagnosis of genomic imbalance.

S. Cheung, C. Walsh, Yiping Shen, 2007, Clinical chemistry.

Microarray‐based CGH detects chromosomal mosaicism not revealed by conventional cytogenetics

P. Stankiewicz, Ankita Patel, C. Shaw, 2007, American journal of medical genetics. Part A.

Genome Sequencing Explores Complexity of Chromosomal Abnormalities in Recurrent Miscarriage.

S. Cheung, Yuan Jiang, Huanming Yang, 2019, American journal of human genetics.

Clinical exome sequencing reveals locus heterogeneity and phenotypic variability of cohesinopathies

J. Rosenfeld, A. Breman, C. Shaw, 2018, Genetics in Medicine.

Human subtelomeric copy number gains suggest a DNA replication mechanism for formation: beyond breakage–fusion–bridge for telomere stabilization

Ankita Patel, J. Lupski, S. Cheung, 2012, Human Genetics.

Intragenic rearrangements in NRXN1 in three families with autism spectrum disorder, developmental delay, and speech delay

P. Stankiewicz, Z. Xia, M. L. Cooper, 2010, American journal of medical genetics. Part B, Neuropsychiatric genetics : the official publication of the International Society of Psychiatric Genetics.

A syndrome of short stature, microcephaly and speech delay is associated with duplications reciprocal to the common Sotos syndrome deletion

P. Stankiewicz, J. Lupski, S. Cheung, 2010, European Journal of Human Genetics.

Characterization of chromosomal abnormalities in pregnancy losses reveals critical genes and loci for human early development

P. Stankiewicz, A. Breman, Ankita Patel, 2017, Human mutation.

A partial MECP2 duplication in a mildly affected adult male: a putative role for the 3' untranslated region in the MECP2 duplication phenotype

J. Lupski, S. Cheung, C. Schaaf, 2012, BMC Medical Genetics.

Molecular mechanisms for subtelomeric rearrangements associated with the 9q34.3 microdeletion syndrome.

A. C. Chinault, J. Lupski, S. Cheung, 2009, Human molecular genetics.

Chromosomal microarray analysis (CMA) detects a large X chromosome deletion including FMR1, FMR2, and IDS in a female patient with mental retardation

Z. Ou, M. L. Cooper, E. Roeder, 2007, American journal of medical genetics. Part A.

Male-to-female sex reversal associated with an ∼250 kb deletion upstream of NR0B1 (DAX1)

B. Fernandez, P. Stankiewicz, J. Lupski, 2007, Human Genetics.

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

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

Low‐level mosaicism of trisomy 14: Phenotypic and molecular characterization

L. Shao, Ankita Patel, C. Shaw, 2008, American journal of medical genetics. Part A.

Evolution of prenatal genetics: from point mutation testing to chromosomal microarray analysis

S. Cheung, C. Eng, B. Roa, 2005, Expert review of molecular diagnostics.

Prenatal diagnosis of a 9q34.3 microdeletion by array‐CGH in a fetus with an apparently balanced translocation

Ankita Patel, J. Lupski, S. Cheung, 2007, Prenatal diagnosis.

Microdeletion 15q13.3: a locus with incomplete penetrance for autism, mental retardation, and psychiatric disorders

P. Stankiewicz, Ankita Patel, J. Lupski, 2009, Journal of Medical Genetics.

Chromosome analysis in spontaneous pregnancy loss: use of placental villus mesodermal core cell cultures.

S. Cheung, L. Sun, G. Songster, 1992, American journal of medical genetics.

Antenatal ultrasound findings in fetal triploidy syndrome.

S. Cheung, J. Crane, H. Beaver, 1985, Journal of ultrasound in medicine : official journal of the American Institute of Ultrasound in Medicine.

Clinical use of array comparative genomic hybridization (aCGH) for prenatal diagnosis in 300 cases

L. D. White, Ankita Patel, C. Shaw, 2009, Prenatal diagnosis.

Rapid prenatal diagnosis using uncultured amniocytes and oligonucleotide array CGH

L. D. White, A. Breman, Ankita Patel, 2008, Prenatal diagnosis.

De novo and complex imbalanced chromosomal rearrangements revealed by array CGH in a patient with an abnormal phenotype and apparently “balanced” paracentric inversion of 14(q21q23)

Z. Ou, M. L. Cooper, S. Cheung, 2008, American journal of medical genetics. Part A.

Bacterial artificial chromosome-emulation oligonucleotide arrays for targeted clinical array-comparative genomic hybridization analyses

L. D. White, Z. Ou, A. C. Chinault, 2008, Genetics in Medicine.

Complex balanced translocation t(1;5;7)(p32.1;q14.3;p21.3) and two microdeletions del(1)(p31.1p31.1) and del(7)(p14.1p14.1) in a patient with features of Greig cephalopolysyndactyly and mental retardation

P. Stankiewicz, S. Cheung, E. Obersztyn, 2007, American journal of medical genetics. Part A.

Microarray-based comparative genomic hybridization using sex-matched reference DNA provides greater sensitivity for detection of sex chromosome imbalances than array-comparative genomic hybridization with sex-mismatched reference DNA.

Z. Ou, A. C. Chinault, Ankita Patel, 2009, The Journal of molecular diagnostics : JMD.

Mosaic deletion 11p13 in a child with dopamine beta‐hydroxylase deficiency—Case report and review of the literature

Z. Ou, M. L. Cooper, S. Cheung, 2010, American journal of medical genetics. Part A.

A novel chromosome 19p13.12 deletion in a child with multiple congenital anomalies

S. Cheung, D. M. Martin, S. Gebarski, 2009, American journal of medical genetics. Part A.

Prenatal diagnosis of a fetus with a homologous Robertsonian translocation of chromosomes 15.

L. Shaffer, S. Cheung, C. Richards, 1997, American journal of medical genetics.

Somatic mosaicism detected by exon-targeted, high-resolution aCGH in 10 362 consecutive cases

P. Stankiewicz, Ankita Patel, C. Shaw, 2014, European Journal of Human Genetics.

Mixed gonadal dysgenesis in a child with isodicentric y chromosome: Does the relative proportion of the 45,X line really matter?

M. L. Cooper, S. Cheung, D. Grignon, 2010, American journal of medical genetics. Part A.

Prenatal chromosomal microarray analysis in a diagnostic laboratory; experience with >1000 cases and review of the literature

A. Breman, Ankita Patel, C. Shaw, 2012, Prenatal diagnosis.

BAFopathies’ DNA methylation epi-signatures demonstrate diagnostic utility and functional continuum of Coffin–Siris and Nicolaides–Baraitser syndromes

S. Cheung, R. Hennekam, C. Schwartz, 2018, Nature Communications.

Insertional translocation detected using FISH confirmation of array‐comparative genomic hybridization (aCGH) results

Z. Ou, P. Stankiewicz, M. L. Cooper, 2010, American journal of medical genetics. Part A.

4p16.3 microdeletions and microduplications detected by chromosomal microarray analysis: New insights into mechanisms and critical regions

A. Breman, S. Cheung, W. Bi, 2016, American journal of medical genetics. Part A.

Hep G2 is a hepatoblastoma-derived cell line.

S. Cheung, M. Finegold, B. Knowles, 2009, Human pathology.

A mouse embryo culture system for quality control testing of human in vitro fertilization and embryo transfer media and fetal cord sera

S. Cheung, R. Strickler, M. D. Vera, 1985 .

A mosaic 2q24.2 deletion narrows the critical region to a 0.4 Mb interval that includes TBR1, TANK, and PSMD14

S. Cheung, L. Burrage, L. M. Franco, 2013, American journal of medical genetics. Part A.

Copy number variants in patients with intellectual disability affect the regulation of ARX transcription factor gene

Stephen W. Wilson, Thomas A. Hawkins, J. Gécz, 2015, Human Genetics.

Microdeletions including YWHAE in the Miller–Dieker syndrome region on chromosome 17p13.3 result in facial dysmorphisms, growth restriction, and cognitive impairment

Z. Ou, P. Stankiewicz, Ankita Patel, 2009, Journal of Medical Genetics.

Clinical spectrum associated with recurrent genomic rearrangements in chromosome 17q12

P. Stankiewicz, E. Roeder, S. Cheung, 2010, European Journal of Human Genetics.

The phenotype of recurrent 10q22q23 deletions and duplications

R. Pfundt, P. Stankiewicz, Ankita Patel, 2011, European Journal of Human Genetics.

Duplications of the critical Rubinstein–Taybi deletion region on chromosome 16p13.3 cause a novel recognisable syndrome

S. Cheung, K. Devriendt, S. Gimelli, 2009, Journal of Medical Genetics.

Redefined genomic architecture in 15q24 directed by patient deletion/duplication breakpoint mapping

Z. Ou, P. Stankiewicz, Ankita Patel, 2009, Human Genetics.

Alu-specific microhomology-mediated deletions in CDKL5 in females with early-onset seizure disorder

P. Stankiewicz, Z. Xia, S. Cheung, 2009, neurogenetics.

a novel recognisable syndrome deletion region on chromosome 16 p 13 . 3 cause Taybi − Duplications of the critical Rubinstein

S. Cheung, K. Devriendt, S. Gimelli, 2022 .

Nonrecurrent 17p11.2p12 Rearrangement Events that Result in Two Concomitant Genomic Disorders: The PMP22-RAI1 Contiguous Gene Duplication Syndrome.

J. Lupski, S. Cheung, A. Munnich, 2015, American journal of human genetics.

Dosage changes of a segment at 17p13.1 lead to intellectual disability and microcephaly as a result of complex genetic interaction of multiple genes.

J. Lupski, S. Cheung, N. Katsanis, 2014, American journal of human genetics.

Introductory comments on special section—Genomic microduplications: When adding may equal subtracting

S. Cheung, C. Bacino, 2010, American journal of medical genetics. Part A.

Detection of ≥1 Mb microdeletions and microduplications in a single cell using custom oligonucleotide arrays

P. Stankiewicz, A. Breman, C. Shaw, 2012, Prenatal diagnosis.

MECP2 duplications in six patients with complex sex chromosome rearrangements

A. Breman, Ankita Patel, S. Cheung, 2011, European Journal of Human Genetics.

Different‐sized duplications of Xq28, including MECP2, in three males with mental retardation, absent or delayed speech, and recurrent infections

P. Stankiewicz, S. Cheung, E. Obersztyn, 2008, American journal of medical genetics. Part B, Neuropsychiatric genetics : the official publication of the International Society of Psychiatric Genetics.

The donor chromosome breakpoint for a jumping translocation is associated with large low-copy repeats in 21q21.3

P. Stankiewicz, J. Lupski, S. Cheung, 2003, Cytogenetic and Genome Research.

Exon deletions of the EP300 and CREBBP genes in two children with Rubinstein–Taybi syndrome detected by aCGH

P. Stankiewicz, J. Wiszniewska, S. Cheung, 2011, European Journal of Human Genetics.

Fusion of Large-Scale Genomic Knowledge and Frequency Data Computationally Prioritizes Variants in Epilepsy

Ankita Patel, Chad A. Shaw, Carlos A. Bacino, 2013, PLoS genetics.

Refinement of the postnatal growth restriction locus of chromosome 5q12‐13 deletion syndrome

S. Cheung, J. Holder, 2015, American journal of medical genetics. Part A.

Reply to Amor et al

P. Stankiewicz, S. Cheung, N. Brunetti‐Pierri, 2012, European Journal of Human Genetics.

Deletions in chromosome 6p22.3-p24.3, including ATXN1, are associated with developmental delay and autism spectrum disorders

J. Rosenfeld, P. Stankiewicz, J. Wiszniewska, 2012, Molecular Cytogenetics.

Deletions in chromosome 6p22.3-p24.3, including ATXN1, are associated with developmental delay and autism spectrum disorders

J. Rosenfeld, P. Stankiewicz, J. Wiszniewska, 2012, Molecular Cytogenetics.

Congenital diaphragmatic hernia in WAGR syndrome

P. Stankiewicz, M. L. Cooper, S. Cheung, 2005, American journal of medical genetics. Part A.

Incidental copy-number variants identified by routine genome testing in a clinical population

P. Stankiewicz, Ankita Patel, C. Shaw, 2012, Genetics in Medicine.

Novel 9q34.11 gene deletions encompassing combinations of four Mendelian disease genes: STXBP1, SPTAN1, ENG, and TOR1A

J. Rosenfeld, L. Shaffer, P. Stankiewicz, 2012, Genetics in Medicine.

Pre- and postnatal genetic testing by array-comparative genomic hybridization: genetic counseling perspectives

Ankita Patel, S. Cheung, P. Ward, 2008, Genetics in Medicine.

De novo deletions and duplications of 17q25.3 cause susceptibility to cardiovascular malformations

C. Shaw, S. Cheung, T. Bohan, 2015, Orphanet Journal of Rare Diseases.

SHANK3 overexpression causes manic-like behavior with unique pharmacogenetic properties

A. Breman, Ankita Patel, S. Cheung, 2013, Nature.

Recurrent distal 7q11.23 deletion including HIP1 and YWHAG identified in patients with intellectual disabilities, epilepsy, and neurobehavioral problems.

P. Stankiewicz, Z. Xia, P. Szafranski, 2010, American journal of human genetics.

Cryptic unbalanced translocation t(17;18)(p13.2;q22.3) identified by subtelomeric FISH and defined by array‐based comparative genomic hybridization in a patient with mental retardation and dysmorphic features

Z. Ou, P. Stankiewicz, M. L. Cooper, 2005, American journal of medical genetics. Part A.

DUF1220-domain copy number implicated in human brain-size pathology and evolution.

J. Lupski, S. Cheung, J. Sikela, 2012, American journal of human genetics.

Clinical Reasoning: A common cause for Phelan-McDermid syndrome and neurofibromatosis type 2

S. Cheung, A. Lyons-Warren, J. Holder, 2017, Neurology.

Confounding by Repetitive Elements and CpG Islands Does Not Explain the Association between Hypomethylation and Genomic Instability

L. D. White, A. C. Chinault, Ankita Patel, 2013, PLoS genetics.

MCTP2 is a dosage-sensitive gene required for cardiac outflow tract development.

Ankita Patel, S. Cheung, J. Belmont, 2013, Human molecular genetics.

Clinical characterization of int22h1/int22h2-mediated Xq28 duplication/deletion: new cases and literature review

E. Roeder, Ankita Patel, S. Cheung, 2015, BMC Medical Genetics.

TM4SF20 ancestral deletion and susceptibility to a pediatric disorder of early language delay and cerebral white matter hyperintensities.

Gao T. Wang, Mahshid S. Azamian, M. Hurles, 2013, American journal of human genetics.

Mosaicism for r(X) and der(X)del(X)(p11.23)dup(X)(p11.21p11.22) provides insight into the possible mechanism of rearrangement

Z. Ou, P. Stankiewicz, M. L. Cooper, 2008, Molecular Cytogenetics.

Mosaic tetrasomy 12p with triplication of 12p detected by array‐based comparative genomic hybridization of peripheral blood DNA

K. Gunderson, M. L. Cooper, Ankita Patel, 2007, American journal of medical genetics. Part A.

Branchiootorenal syndrome and oculoauriculovertebral spectrum features associated with duplication of SIX1, SIX6, and OTX2 resulting from a complex chromosomal rearrangement

Z. Ou, P. Stankiewicz, M. L. Cooper, 2008, American journal of medical genetics. Part A.

Non-invasive prenatal testing for fetal chromosomal abnormalities by low-coverage whole-genome sequencing of maternal plasma DNA: review of 1982 consecutive cases in a single center

S. Cheung, H. Zhang, K. Choy, 2014 .

A 1q42 deletion involving DISC1, DISC2, and TSNAX in an autism spectrum disorder

S. Cheung, D. Scott, M. Proud, 2009, American journal of medical genetics. Part A.

NUDT21-spanning CNVs lead to neuropsychiatric disease and altered MeCP2 abundance via alternative polyadenylation

Wei Li, Christian P Schaaf, J. Rosenfeld, 2015, eLife.

Molecular Definition of High-resolution Multicolor Banding Probes: First Within the Human DNA Sequence Anchored FISH Banding Probe Set

S. Cheung, W. Cai, K. Mrasek, 2008, The journal of histochemistry and cytochemistry : official journal of the Histochemistry Society.

Molecular cytogenetic characterization of eight small supernumerary marker chromosomes originating from chromosomes 2, 4, 8,18, and 21 in three patients

P. Stankiewicz, S. Cheung, W. Cai, 2010, Journal of Applied Genetics.

Recurrent microdeletions of 15q25.2 are associated with increased risk of congenital diaphragmatic hernia, cognitive deficits and possibly Diamond–Blackfan anaemia

P. Stankiewicz, E. Roeder, V. Enciso, 2010, Journal of Medical Genetics.

Identification of complex chromosome 18 rearrangements by FISH and array CGH in two patients with apparent isochromosome 18q

S. Cheung, W. Craigen, C. Schaaf, 2011, American journal of medical genetics. Part A.

TO JMG Deletion 9 q 34 . 3 syndrome : genotype-phenotype correlations and an extended deletion in a patient with features of Opitz C trigonocephaly

P. Stankiewicz, J. Lupski, S. Cheung, 2005 .

Delineation of the proximal 3q microdeletion syndrome

K. Gunderson, S. Cheung, D. Peiffer, 2008, American Journal of Medical Genetics. Part A.

Clinical Report Delineation of the Proximal 3q Microdeletion Syndrome

K. Gunderson, S. Cheung, D. Peiffer, 2008 .

Whole‐exome sequencing identifies compound heterozygous mutations in WDR62 in siblings with recurrent polymicrogyria

David R. Murdock, S. Cheung, R. Gibbs, 2011, American journal of medical genetics. Part A.

10p11.2 to 10q11.2 is a yet unreported region leading to unbalanced chromosomal abnormalities without phenotypic consequences

S. Cheung, W. Cai, S. Bhatt, 2009, Cytogenetic and Genome Research.

TGFBR2 deletion in a 20‐month‐old female with developmental delay and microcephaly

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

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

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

PTCH1 duplication in a family with microcephaly and mild developmental delay

P. Stankiewicz, M. L. Cooper, S. Cheung, 2009, European Journal of Human Genetics.

Small genomic rearrangements involving FMR1 support the importance of its gene dosage for normal neurocognitive function

P. Stankiewicz, Ankita Patel, S. Cheung, 2012, neurogenetics.

Sex chromosome marker: clinical significance and DNA characterization.

V. P. Johnson, S. Cheung, P. McDonough, 1991, American journal of medical genetics.

Deletion Syndrome : Clinical and Molecular Analysis Using Array CGH

Z. Ou, P. Stankiewicz, S. Cheung, 2010 .

The genetic basis of DOORS syndrome: an exome-sequencing study

Jonathan E. Dickerson, J. Wiszniewska, S. Cheung, 2013 .

Author response: NUDT21-spanning CNVs lead to neuropsychiatric disease and altered MeCP2 abundance via alternative polyadenylation

J. Rosenfeld, E. Roeder, S. Cheung, 2015 .

Rare variants in the genetic background modulate cognitive and developmental phenotypes in individuals carrying disease-associated variants

J. Rosenfeld, M. Fichera, C. Romano, 2018, Genetics in Medicine.

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

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

Copy number variant and runs of homozygosity detection by microarrays enabled more precise molecular diagnoses in 11,020 clinical exome cases

P. Stankiewicz, Ankita Patel, C. Shaw, 2019, Genome Medicine.

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

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

Cornelia de Lange syndrome case due to genomic rearrangements including NIPBL.

P. Stankiewicz, Z. Xia, J. Lupski, 2010, European journal of medical genetics.

Targeted gene panel sequencing prenatally detects two novel mutations of DYNC2H1 in a fetus with increased biparietal diameter and polyhydramnios.

S. Cheung, E. Schmitt, Luming Sun, 2018, Birth defects research.

Y-chromosome microdeletions are not associated with SHOX haploinsufficiency.

S. Cheung, A. Sahin, D. Lamb, 2014, Human reproduction.

Erratum to: Haploinsufficiency of the E3 ubiquitin-protein ligase gene TRIP12 causes intellectual disability with or without autism spectrum disorders, speech delay, and dysmorphic features

J. Rosenfeld, P. Stankiewicz, P. Szafranski, 2017, Human Genetics.

Pulmonary alveolar proteinosis caused by deletion of the GM-CSFRα gene in the X chromosome pseudoautosomal region 1

S. Cheung, R. Gibbs, Yiming Zhu, 2008, The Journal of experimental medicine.

Identification of critical regions for clinical features of distal 10q deletion syndrome

Z. Ou, S. Cheung, D. Peiffer, 2009, Clinical genetics.

Intragenic rearrangements in NRXN1 in three families with autism spectrum disorder, developmental delay, and speech delay

P. Stankiewicz, Z. Xia, M. L. Cooper, 2010, American journal of medical genetics. Part B, Neuropsychiatric genetics : the official publication of the International Society of Psychiatric Genetics.

22q11.2 distal deletion: a recurrent genomic disorder distinct from DiGeorge syndrome and velocardiofacial syndrome.

Z. Ou, Ankita Patel, J. Lupski, 2008, American journal of human genetics.

Detection of clinically relevant exonic copy‐number changes by array CGH

P. Stankiewicz, Z. Xia, Ankita Patel, 2010, Human mutation.

Genomic hypomethylation in the human germline associates with structural mutability in the human genome

L. D. White, A. C. Chinault, Ankita Patel, 2012 .

A small recurrent deletion within 15q13.3 is associated with a range of neurodevelopmental phenotypes

P. Stankiewicz, Z. Xia, Ankita Patel, 2009, Nature Genetics.

A 1q42 deletion involving DISC1, DISC2, and TSNAX in an autism spectrum disorder

S. Cheung, D. Scott, M. Proud, 2009, American journal of medical genetics. Part A.

Chromosome 8p23.1 deletions as a cause of complex congenital heart defects and diaphragmatic hernia

S. Cheung, C. Bacino, F. Scaglia, 2009, American journal of medical genetics. Part A.