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Sau Wai Cheung

This is a preview profile on BiomedExperts - the first literature-based scientific social network. It brings the right researchers together and allows them to collaborate online. Collexis and Dell provide the BiomedExperts network of +1.5 Million pre-calculated profiles free of charge to researchers worldwide.

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TOP 3
López-Terrada Dolores; Cheung Sau Wai; Finegold Milton J; Knowles Barbara B
Hep G2 is a hepatoblastoma-derived cell line.
Vissers Lisenka E L M; Bhatt Samarth S; Janssen Irene M; Xia Zhilian; Lalani Seema R; Pfundt Rolph; Derwinska Katarzyna; de Vries Bert B A; Gilissen Christian; Hoischen Alexander; Nesteruk Monika; Wisniowiecka-Kowalnik Barbara; Smyk Marta; Brunner Han G; Cheung Sau Wai; van Kessel Ad Geurts; Veltman Joris A; Stankiewicz Pawel
Rare pathogenic microdeletions and tandem duplications are microhomology-mediated and stimulated by local genomic architecture.
El-Hattab Ayman W; Smolarek Teresa A; Walker Martha E; Schorry Elizabeth K; Immken LaDonna L; Patel Gayle; Abbott Mary-Alice; Lanpher Brendan C; Ou Zhishuo; Kang Sung-Hae L; Patel Ankita; Scaglia Fernando; Lupski James R; Cheung Sau Wai; Stankiewicz Pawel
Redefined genomic architecture in 15q24 directed by patient deletion/duplication breakpoint mapping.

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All Publications

2009: López-Terrada Dolores; Cheung Sau Wai; Finegold Milton J; Knowles Barbara B
Hep G2 is a hepatoblastoma-derived cell line.
Human pathology 2009;40(10):1512-5.
2009: Vissers Lisenka E L M; Bhatt Samarth S; Janssen Irene M; Xia Zhilian; Lalani Seema R; Pfundt Rolph; Derwinska Katarzyna; de Vries Bert B A; Gilissen Christian; Hoischen Alexander; Nesteruk Monika; Wisniowiecka-Kowalnik Barbara; Smyk Marta; Brunner Han G; Cheung Sau Wai; van Kessel Ad Geurts; Veltman Joris A; Stankiewicz Pawel
Rare pathogenic microdeletions and tandem duplications are microhomology-mediated and stimulated by local genomic architecture.
Human molecular genetics 2009;18(19):3579-93.
2009: El-Hattab Ayman W; Smolarek Teresa A; Walker Martha E; Schorry Elizabeth K; Immken LaDonna L; Patel Gayle; Abbott Mary-Alice; Lanpher Brendan C; Ou Zhishuo; Kang Sung-Hae L; Patel Ankita; Scaglia Fernando; Lupski James R; Cheung Sau Wai; Stankiewicz Pawel
Redefined genomic architecture in 15q24 directed by patient deletion/duplication breakpoint mapping.
Human genetics 2009;126(4):589-602.
2009: Erez Ayelet; Patel Amina J; Wang Xueqing; Xia Zhilian; Bhatt Samarth S; Craigen William; Cheung Sau Wai; Lewis Richard A; Fang Ping; Davenport Sandra L H; Stankiewicz Pawel; Lalani Seema R
Alu-specific microhomology-mediated deletions in CDKL5 in females with early-onset seizure disorder.
Neurogenetics 2009;10(4):363-9.
2009: Breman Amy M; Bi Wei-min; Cheung Sau Wai
Prenatal diagnosis by array-based comparative genomic hybridization in the clinical laboratory setting.
Beijing da xue xue bao. Yi xue ban = Journal of Peking University. Health sciences 2009;41(4):500-4.
2009: Williams Jaime M; Beck Tyler F; Pearson David M; Proud Monica B; Cheung Sau Wai; Scott Daryl A
A 1q42 deletion involving DISC1, DISC2, and TSNAX in an autism spectrum disorder.
American journal of medical genetics. Part A 2009;149A(8):1758-62.
2009: Wat Margaret J; Shchelochkov Oleg A; Holder Ashley M; Breman Amy M; Dagli Aditi; Bacino Carlos; Scaglia Fernando; Zori Roberto T; Cheung Sau Wai; Scott Daryl A; Kang Sung-Hae Lee
Chromosome 8p23.1 deletions as a cause of complex congenital heart defects and diaphragmatic hernia.
American journal of medical genetics. Part A 2009;149A(8):1661-77.
2009: Yatsenko S A; Kruer M C; Bader P I; Corzo D; Schuette J; Keegan C E; Nowakowska B; Peacock S; Cai W W; Peiffer D A; Gunderson K L; Ou Z; Chinault A C; Cheung S W
Identification of critical regions for clinical features of distal 10q deletion syndrome.
Clinical genetics 2009;76(1):54-62.
2009: Carvalho Claudia M B; Zhang Feng; Liu Pengfei; Patel Ankita; Sahoo Trilochan; Bacino Carlos A; Shaw Chad; Peacock Sandra; Pursley Amber; Tavyev Y Jane; Ramocki Melissa B; Nawara Magdalena; Obersztyn Ewa; Vianna-Morgante Angela M; Stankiewicz Pawel; Zoghbi Huda Y; Cheung Sau Wai; Lupski James R
Complex rearrangements in patients with duplications of MECP2 can occur by fork stalling and template switching.
Human molecular genetics 2009;18(12):2188-203.
2009: Yatsenko Svetlana A; Brundage Ellen K; Roney Erin K; Cheung Sau Wai; Chinault A Craig; Lupski James R
Molecular mechanisms for subtelomeric rearrangements associated with the 9q34.3 microdeletion syndrome.
Human molecular genetics 2009;18(11):1924-36.
2009: Ben-Shachar S; Lanpher B; German J R; Qasaymeh M; Potocki L; Nagamani S C Sreenath; Franco L M; Malphrus A; Bottenfield G W; Spence J E; Amato S; Rousseau J A; Moghaddam B; Skinner C; Skinner S A; Bernes S; Armstrong N; Shinawi M; Stankiewicz P; Patel A; Cheung S-W; Lupski J R; Beaudet A L; Sahoo T
Microdeletion 15q13.3: a locus with incomplete penetrance for autism, mental retardation, and psychiatric disorders.
Journal of medical genetics 2009;46(6):382-8.
2009: Yatsenko Svetlana A; Shaw Chad A; Ou Zhishuo; Pursley Amber N; Patel Ankita; Bi Weimin; Cheung Sau Wai; Lupski James R; Chinault A Craig; Beaudet Arthur L
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.
The Journal of molecular diagnostics : JMD 2009;11(3):226-37.
2009: Nagamani Sandesh Chakravarthy Sreenath; Erez Ayelet; Eng Christine; Ou Zhishuo; Chinault Craig; Workman Laura; Coldwell James; Stankiewicz Pawel; Patel Ankita; Lupski James R; Cheung Sau Wai
Interstitial deletion of 6q25.2-q25.3: a novel microdeletion syndrome associated with microcephaly, developmental delay, dysmorphic features and hearing loss.
European journal of human genetics : EJHG 2009;17(5):573-81.
2009: Jensen Daniel R; Martin Donna M; Gebarski Stephen; Sahoo Trilochan; Brundage Ellen K; Chinault A Craig; Otto Edgar A; Chaki Moumita; Hildebrandt Friedhelm; Cheung Sau Wai; Lesperance Marci M
A novel chromosome 19p13.12 deletion in a child with multiple congenital anomalies.
American journal of medical genetics. Part A 2009;149A(3):396-402.
2009: Bi Weimin; Sapir Tamar; Shchelochkov Oleg A; Zhang Feng; Withers Marjorie A; Hunter Jill V; Levy Talia; Shinder Vera; Peiffer Daniel A; Gunderson Kevin L; Nezarati Marjan M; Shotts Vern Ann; Amato Stephen S; Savage Sarah K; Harris David J; Day-Salvatore Debra-Lynn; Horner Michele; Lu Xin-Yan; Sahoo Trilochan; Yanagawa Yuchio; Beaudet Arthur L; Cheung Sau Wai; Martinez Salvador; Lupski James R; Reiner Orly
Increased LIS1 expression affects human and mouse brain development.
Nature genetics 2009;41(2):168-77.
2009: Derwinska Katarzyna; Smyk Marta; Cooper Mitchell Lance; Bader Patricia; Cheung Sau Wai; Stankiewicz Pawel
PTCH1 duplication in a family with microcephaly and mild developmental delay.
European journal of human genetics : EJHG 2009;17(2):267-71.
2009: Van den Veyver Ignatia B; Patel Ankita; Shaw Chad A; Pursley Amber N; Kang Sung-Hae L; Simovich Marcia J; Ward Patricia A; Darilek Sandra; Johnson Anthony; Neill Sarah E; Bi Weimin; White Lisa D; Eng Christine M; Lupski James R; Cheung Sau Wai; Beaudet Arthur L
Clinical use of array comparative genomic hybridization (aCGH) for prenatal diagnosis in 300 cases.
Prenatal diagnosis 2009;29(1):29-39.
2009: Liehr T; Stumm M; Wegner R D; Bhatt S; Hickmann P; Patsalis P C; Meins M; Morlot S; Klaschka V; Ewers E; Hinreiner S; Mrasek K; Kosyakova N; Cai W W; Cheung S W; Weise A
10p11.2 to 10q11.2 is a yet unreported region leading to unbalanced chromosomal abnormalities without phenotypic consequences.
Cytogenetic and genome research 2009;124(1):102-5.
2008: Lu Xin-Yan; Phung Mai T; Shaw Chad A; Pham Kim; Neil Sarah E; Patel Ankita; Sahoo Trilochan; Bacino Carlos A; Stankiewicz Pawel; Kang Sung-Hae Lee; Lalani Seema; Chinault A Craig; Lupski James R; Cheung Sau W; Beaudet Arthur L
Genomic imbalances in neonates with birth defects: high detection rates by using chromosomal microarray analysis.
Pediatrics 2008;122(6):1310-8.
2008: Martinez-Moczygemba Margarita; Doan Minh L; Elidemir Okan; Fan Leland L; Cheung Sau Wai; Lei Jonathan T; Moore James P; Tavana Ghamartaj; Lewis Lora R; Zhu Yiming; Muzny Donna M; Gibbs Richard A; Huston David P
Pulmonary alveolar proteinosis caused by deletion of the GM-CSFRalpha gene in the X chromosome pseudoautosomal region 1.
The Journal of experimental medicine 2008;205(12):2711-6.
2008: Bi Weimin; Breman Amy M; Venable Susan F; Eng Patricia A; Sahoo Trilochan; Lu Xin-Yan; Patel Ankita; Beaudet Arthur L; Cheung Sau Wai; White Lisa D
Rapid prenatal diagnosis using uncultured amniocytes and oligonucleotide array CGH.
Prenatal diagnosis 2008;28(10):943-9.
2008: Ou Zhishuo; Martin Donna M; Bedoyan Jirair K; Cooper M Lance; Chinault A Craig; Stankiewicz Pawel; Cheung Sau W
Branchiootorenal syndrome and oculoauriculovertebral spectrum features associated with duplication of SIX1, SIX6, and OTX2 resulting from a complex chromosomal rearrangement.
American journal of medical genetics. Part A 2008;146A(19):2480-9.
2008: Nowakowska B; Stankiewicz P; Obersztyn E; Ou Z; Li J; Chinault A C; Smyk M; Borg K; Mazurczak T; Cheung S W; Bocian E
Application of metaphase HR-CGH and targeted Chromosomal Microarray Analyses to genomic characterization of 116 patients with mental retardation and dysmorphic features.
American journal of medical genetics. Part A 2008;146A(18):2361-9.
2008: Shao Lina; Shaw Chad A; Lu Xin-Yan; Sahoo Trilochan; Bacino Carlos A; Lalani Seema R; Stankiewicz Pawel; Yatsenko Svetlana A; Li Yinfeng; Neill Sarah; Pursley Amber N; Chinault A Craig; Patel Ankita; Beaudet Arthur L; Lupski James R; Cheung Sau W
Identification of chromosome abnormalities in subtelomeric regions by microarray analysis: a study of 5,380 cases.
American journal of medical genetics. Part A 2008;146A(17):2242-51.
2008: Shinawi Marwan; Cheung Sau Wai
The array CGH and its clinical applications.
Drug discovery today 2008;13(17-18):760-70.
2008: Probst Frank J; Cooper Mitchell Lance; Cheung Sau Wai; Justice Monica J
Genotype, phenotype, and karyotype correlation in the XO mouse model of Turner Syndrome.
The Journal of heredity 2008;99(5):512-7.
2008: Smyk M; Obersztyn E; Nowakowska B; Nawara M; Cheung S W; Mazurczak T; Stankiewicz P; Bocian E
Different-sized duplications of Xq28, including MECP2, in three males with mental retardation, absent or delayed speech, and recurrent infections.
American journal of medical genetics. Part B, Neuropsychiatric genetics : the official publication of the International Society of Psychiatric Genetics 2008;147B(6):799-806.
2008: Jiang Yong-Hui; Martinez Jose E; Ou Zhishuo; Cooper M Lance; Kang Sung-Hae L; Pursley Amber; Cheung Sau W
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).
American journal of medical genetics. Part A 2008;146A(15):1986-93.
2008: Brunetti-Pierri Nicola; Sahoo Trilochan; Frioux Sarah; Chinault Craig; Zascavage Roxanne; Cheung Sau-Wai; Peters Sarika; Shinawi Marwan
15q13q14 deletions: phenotypic characterization and molecular delineation by comparative genomic hybridization.
American journal of medical genetics. Part A 2008;146A(15):1933-41.
2008: Shinawi Marwan; Erez Ayelet; Shardy Deborah L; Lee Brendan; Naeem Rizwan; Weissenberger George; Chinault A Craig; Cheung Sau Wai; Plon Sharon E
Syndromic thrombocytopenia and predisposition to acute myelogenous leukemia caused by constitutional microdeletions on chromosome 21q.
Blood 2008;112(4):1042-7.
2008: Simovich Marcia J; Bland Steven D; Peiffer Daniel A; Gunderson Kevin L; Cheung Sau Wai; Yatsenko Svetlana A; Shinawi Marwan
Delineation of the proximal 3q microdeletion syndrome.
American journal of medical genetics. Part A 2008;146A(13):1729-35.
2008: Sahoo Trilochan; del Gaudio Daniela; German Jennifer R; Shinawi Marwan; Peters Sarika U; Person Richard E; Garnica Adolfo; Cheung Sau Wai; Beaudet Arthur L
Prader-Willi phenotype caused by paternal deficiency for the HBII-85 C/D box small nucleolar RNA cluster.
Nature genetics 2008;40(6):719-21.
2008: Shinawi Marwan; Shao Lina; Jeng Linda Jo Bone; Shaw Chad A; Patel Ankita; Bacino Carlos; Sutton Vernon R; Belmont John; Cheung Sau Wai
Low-level mosaicism of trisomy 14: phenotypic and molecular characterization.
American journal of medical genetics. Part A 2008;146A(11):1395-405.
2008: Weise Anja; Mrasek Kristin; Fickelscher Ina; Claussen Uwe; Cheung Sau Wai; Cai Wei Wen; Liehr Thomas; Kosyakova Nadezda
Molecular definition of high-resolution multicolor banding probes: first within the human DNA sequence anchored FISH banding probe set.
The journal of histochemistry and cytochemistry : official journal of the Histochemistry Society 2008;56(5):487-93.
2008: Ou Zhishuo; Kang Sung-Hae L; Shaw Chad A; Carmack Condie E; White Lisa D; Patel Ankita; Beaudet Arthur L; Cheung Sau Wai; Chinault A Craig
Bacterial artificial chromosome-emulation oligonucleotide arrays for targeted clinical array-comparative genomic hybridization analyses.
Genetics in medicine : official journal of the American College of Medical Genetics 2008;10(4):278-89.
2008: Ou Zhishuo; Berg Jonathan S; Yonath Hagith; Enciso Victoria B; Miller David T; Picker Jonathan; Lenzi Tiffanee; Keegan Catherine E; Sutton Vernon R; Belmont John; Chinault A Craig; Lupski James R; Cheung Sau Wai; Roeder Elizabeth; Patel Ankita
Microduplications of 22q11.2 are frequently inherited and are associated with variable phenotypes.
Genetics in medicine : official journal of the American College of Medical Genetics 2008;10(4):267-77.
2008: Darilek Sandra; Ward Patricia; Pursley Amber; Plunkett Katie; Furman Patti; Magoulas Pilar; Patel Ankita; Cheung Sau Wai; Eng Christine M
Pre- and postnatal genetic testing by array-comparative genomic hybridization: genetic counseling perspectives.
Genetics in medicine : official journal of the American College of Medical Genetics 2008;10(1):13-8.
2008: Ben-Shachar Shay; Ou Zhishuo; Shaw Chad A; Belmont John W; Patel Millan S; Hummel Marybeth; Amato Stephen; Tartaglia Nicole; Berg Jonathan; Sutton V Reid; Lalani Seema R; Chinault A Craig; Cheung Sau W; Lupski James R; Patel Ankita
22q11.2 distal deletion: a recurrent genomic disorder distinct from DiGeorge syndrome and velocardiofacial syndrome.
American journal of human genetics 2008;82(1):214-21.
2008: Shchelochkov Oleg A; Cooper M Lance; Ou Zhishuo; Peacock Sandra; Yatsenko Svetlana A; Brown Chester W; Fang Ping; Stankiewicz Pawel; Cheung Sau Wai
Mosaicism for r(X) and der(X)del(X)(p11.23)dup(X)(p11.21p11.22) provides insight into the possible mechanism of rearrangement.
Molecular Cytogenetics 2008;1(1):16.
2007: Powis Zöe; Kang Sung-Hae L; Cooper M Lance; Patel Ankita; Peiffer Daniel A; Hawkins Anne; Heidenreich Randall; Gunderson Kevin L; Cheung Sau W; Erickson Robert P
Mosaic tetrasomy 12p with triplication of 12p detected by array-based comparative genomic hybridization of peripheral blood DNA.
American journal of medical genetics. Part A 2007;143A(24):2910-5.
2007: Shen Yiping; Irons Mira; Miller David T; Cheung Sau Wai; Lip Va; Sheng Xiaoming; Tomaszewicz Keith; Shao Hong; Fang Hong; Tang Hung Siv; Irons Mira; Walsh Christopher A; Platt Orah; Gusella James F; Wu Bai-Lin
Development of a focused oligonucleotide-array comparative genomic hybridization chip for clinical diagnosis of genomic imbalance.
Clinical chemistry 2007;53(12):2051-9.
2007: Simovich Marcia J; Yatsenko Svetlana A; Kang Sung-Hae L; Cheung Sau Wai; Dudek Martha E; Pursley Amber; Ward Patricia A; Patel Ankita; Lupski James R
Prenatal diagnosis of a 9q34.3 microdeletion by array-CGH in a fetus with an apparently balanced translocation.
Prenatal diagnosis 2007;27(12):1112-7.
2007: Borg Katarzyna; Nowakowska Beata; Obersztyn Ewa; Cheung Sau Wai; Brycz-Witkowska Joanna; Korniszewski Lech; Mazurczak Tadeusz; Stankiewicz Pawel; Bocian Ewa
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.
American journal of medical genetics. Part A 2007;143A(22):2738-43.
2007: Brunetti-Pierri N; Grange D K; Ou Z; Peiffer D A; Peacock S K G; Cooper M L; Eng P A; Lalani S R; Chinault A C; Gunderson K L; Craigen W J; Cheung S-W
Characterization of de novo microdeletions involving 17q11.2q12 identified through chromosomal comparative genomic hybridization.
Clinical genetics 2007;72(5):411-9.
2007: Kang S-H L; Scheffer A; Ou Z; Li J; Scaglia F; Belmont J; Lalani S R; Roeder E; Enciso V; Braddock S; Buchholz J; Vacha S; Chinault A C; Cheung S W; Bacino C A
Identification of proximal 1p36 deletions using array-CGH: a possible new syndrome.
Clinical genetics 2007;72(4):329-38.
2007: Nowakowska Beata; Kutkowska-Kazmierczak Anna; Stankiewicz Pawel; Bocian Ewa; Obersztyn Ewa; Ou Zhishuo; Cheung Sau Wai; Cai Wei-Wen
A girl with deletion 9q22.1-q22.32 including the PTCH and ROR2 genes identified by genome-wide array-CGH.
American journal of medical genetics. Part A 2007;143A(16):1885-9.
2007: Cheung Sau W; Shaw Chad A; Scott Daryl A; Patel Ankita; Sahoo Trilochan; Bacino Carlos A; Pursley Amber; Li Jiangzhen; Erickson Robert; Gropman Andrea L; Miller David T; Seashore Margretta R; Summers Anne M; Stankiewicz Pawel; Chinault A Craig; Lupski James R; Beaudet Arthur L; Sutton V Reid
Microarray-based CGH detects chromosomal mosaicism not revealed by conventional cytogenetics.
American journal of medical genetics. Part A 2007;143A(15):1679-86.
2007: Smyk Marta; Berg Jonathan S; Pursley Amber; Curtis Fiona K; Fernandez Bridget A; Bien-Willner Gabriel A; Lupski James R; Cheung Sau Wai; Stankiewicz Pawel
Male-to-female sex reversal associated with an approximately 250 kb deletion upstream of NR0B1 (DAX1).
Human genetics 2007;122(1):63-70.
2007: Berg Jonathan S; Brunetti-Pierri Nicola; Peters Sarika U; Kang Sung-Hae L; Fong Chin-to; Salamone Jessica; Freedenberg Debra; Hannig Vickie L; Prock Lisa Albers; Miller David T; Raffalli Peter; Harris David J; Erickson Robert P; Cunniff Christopher; Clark Gary D; Blazo Maria A; Peiffer Daniel A; Gunderson Kevin L; Sahoo Trilochan; Patel Ankita; Lupski James R; Beaudet Arthur L; Cheung Sau Wai
Speech delay and autism spectrum behaviors are frequently associated with duplication of the 7q11.23 Williams-Beuren syndrome region.
Genetics in medicine : official journal of the American College of Medical Genetics 2007;9(7):427-41.
2007: Probst Frank J; Roeder Elizabeth R; Enciso Victoria B; Ou Zhishuo; Cooper M Lance; Eng Patricia; Li Jiangzhen; Gu Yanghong; Stratton Robert F; Chinault A Craig; Shaw Chad A; Sutton V Reid; Cheung Sau Wai; Nelson David L
Chromosomal microarray analysis (CMA) detects a large X chromosome deletion including FMR1, FMR2, and IDS in a female patient with mental retardation.
American journal of medical genetics. Part A 2007;143A(12):1358-65.
2007: Smyk M; Obersztyn E; Nowakowska B; Bocian E; Cheung S W; Mazurczak T; Stankiewicz P
Recurrent SOX9 deletion campomelic dysplasia due to somatic mosaicism in the father.
American journal of medical genetics. Part A 2007;143A(8):866-70.
2007: Lennon P A; Cooper M L; Peiffer D A; Gunderson K L; Patel A; Peters Sarika; Cheung S W; Bacino C A
Deletion of 7q31.1 supports involvement of FOXP2 in language impairment: clinical report and review.
American journal of medical genetics. Part A 2007;143A(8):791-8.
2007: Pietrzak Joanna; Mrasek Kristin; Obersztyn Ewa; Stankiewicz Pawel; Kosyakova Nadezda; Weise Anja; Cheung Sau Wai; Cai Wei Wen; von Eggeling Ferdinand; Mazurczak Tadeusz; Bocian Ewa; Liehr Thomas
Molecular cytogenetic characterization of eight small supernumerary marker chromosomes originating from chromosomes 2, 4, 8, 18, and 21 in three patients.
Journal of applied genetics 2007;48(2):167-75.
2007: Lu Xinyan; Shaw Chad A; Patel Ankita; Li Jiangzhen; Cooper M Lance; Wells William R; Sullivan Cathy M; Sahoo Trilochan; Yatsenko Svetlana A; Bacino Carlos A; Stankiewicz Pawel; Ou Zhishu; Chinault A Craig; Beaudet Arthur L; Lupski James R; Cheung Sau W; Ward Patricia A
Clinical implementation of chromosomal microarray analysis: summary of 2513 postnatal cases.
PloS one 2007;2(3):e327.
2006: del Gaudio Daniela; Fang Ping; Scaglia Fernando; Ward Patricia A; Craigen William J; Glaze Daniel G; Neul Jeffrey L; Patel Ankita; Lee Jennifer A; Irons Mira; Berry Susan A; Pursley Amber A; Grebe Theresa A; Freedenberg Debra; Martin Rick A; Hsich Gary E; Khera Jena R; Friedman Neil R; Zoghbi Huda Y; Eng Christine M; Lupski James R; Beaudet Arthur L; Cheung Sau Wai; Roa Benjamin B
Increased MECP2 gene copy number as the result of genomic duplication in neurodevelopmentally delayed males.
Genetics in medicine : official journal of the American College of Medical Genetics 2006;8(12):784-92.
2006: Sahoo Trilochan; Cheung Sau Wai; Ward Patricia; Darilek Sandra; Patel Ankita; del Gaudio Daniela; Kang Sung Hae L; Lalani Seema R; Li Jiangzhen; McAdoo Sallie; Burke Audrey; Shaw Chad A; Stankiewicz Pawel; Chinault A Craig; Van den Veyver Ignatia B; Roa Benjamin B; Beaudet Arthur L; Eng Christine M
Prenatal diagnosis of chromosomal abnormalities using array-based comparative genomic hybridization.
Genetics in medicine : official journal of the American College of Medical Genetics 2006;8(11):719-27.
2006: Peiffer Daniel A; Le Jennie M; Steemers Frank J; Chang Weihua; Jenniges Tony; Garcia Francisco; Haden Kirt; Li Jiangzhen; Shaw Chad A; Belmont John; Cheung Sau Wai; Shen Richard M; Barker David L; Gunderson Kevin L
High-resolution genomic profiling of chromosomal aberrations using Infinium whole-genome genotyping.
Genome research 2006;16(9):1136-48.
2006: Lennon P A; Boerkoel C F; Plunkett K; Soukam S; Cheung S W; Patel A
A novel 8.5 MB dup(1)(p34.1p34.3) characterized by FISH in a child presenting with congenital heart defect and dysmorphic features.
American journal of medical genetics. Part A 2006;140A(17):1864-70.
2006: Ou Zhishuo; Jarmuz Malgorzata; Sparagana Steven P; Michaud Jacques; Décarie Jean-Claude; Yatsenko Svetlana A; Nowakowska Beata; Furman Patti; Shaw Chad A; Shaffer Lisa G; Lupski James R; Chinault A Craig; Cheung Sau W; Stankiewicz Pawel
Evidence for involvement of TRE-2 (USP6) oncogene, low-copy repeat and acrocentric heterochromatin in two families with chromosomal translocations.
Human genetics 2006;120(2):227-37.
2006: Lee Jennifer A; Inoue Ken; Cheung Sau W; Shaw Chad A; Stankiewicz Pawel; Lupski James R
Role of genomic architecture in PLP1 duplication causing Pelizaeus-Merzbacher disease.
Human molecular genetics 2006;15(14):2250-65.
2006: Lennon P A; Cooper M L; Curtis M A; Lim C; Ou Z; Patel A; Cheung S W; Bacino C A
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.
American journal of medical genetics. Part A 2006;140(11):1156-63.
2006: Lennon P A; Scott D A; Lonsdorf D; Wargowski D S; Kirkpatrick S; Patel A; Cheung S W
WAGR(O?) syndrome and congenital ptosis caused by an unbalanced t(11;15)(p13;p11.2)dn demonstrating a 7 megabase deletion by FISH.
American journal of medical genetics. Part A 2006;140(11):1214-8.
2006: Cooper M L; Darilek S; Wun W S; Angus S C; Mensing D E; Pursley A N; Dunn R C; Grunert G M; Cheung S W
A retrospective study of preimplantation embryos diagnosed with monosomy by fluorescence in situ hybridization (FISH).
Cytogenetic and genome research 2006;114(3-4):359-66.
2005: Lee Jennifer A; Cheung Sau W; Ward Patricia A; Inoue Ken; Lupski James R
Prenatal diagnosis of PLP1 copy number by array comparative genomic hybridization.
Prenatal diagnosis 2005;25(13):1188-91.
2005: Roa Benjamin B; Pulliam Joseph; Eng Christine M; Cheung Sau Wai
Evolution of prenatal genetics: from point mutation testing to chromosomal microarray analysis.
Expert review of molecular diagnostics 2005;5(6):883-92.
2005: Hwang Kwei Shuai; Pearson Margaret A; Stankiewicz Pawel; Lennon P Alan; Cooper M Lance; Wu Jessica; Ou Zhishuo; Cai Wei-Wen; Patel Ankita; Cheung Sau Wai
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.
American journal of medical genetics. Part A 2005;137(1):88-93.
2005: Cheung Sau W; Shaw Chad A; Yu Wei; Li Jiangzham; Ou Zhishuo; Patel Ankita; Yatsenko Svetlana A; Cooper Mitchell L; Furman Patti; Stankiewicz Pawel; Lupski James R; Chinault A Craig; Beaudet Arthur L
Development and validation of a CGH microarray for clinical cytogenetic diagnosis.
Genetics in medicine : official journal of the American College of Medical Genetics 2005;7(6):422-32.
2005: Scott D A; Cooper M L; Stankiewicz P; Patel A; Potocki L; Cheung S W
Congenital diaphragmatic hernia in WAGR syndrome.
American journal of medical genetics. Part A 2005;134(4):430-3.
2005: Yatsenko S A; Cheung S W; Scott D A; Nowaczyk M J M; Tarnopolsky M; Naidu S; Bibat G; Patel A; Leroy J G; Scaglia F; Stankiewicz P; Lupski J R
Deletion 9q34.3 syndrome: genotype-phenotype correlations and an extended deletion in a patient with features of Opitz C trigonocephaly.
Journal of medical genetics 2005;42(4):328-35.
2004: Yatsenko S A; Yatsenko A N; Szigeti K; Craigen W J; Stankiewicz P; Cheung S W; Lupski J R
Interstitial deletion of 10p and atrial septal defect in DiGeorge 2 syndrome.
Clinical genetics 2004;66(2):128-36.
2003: Stankiewicz P; Cheung S W; Shaw C J; Saleki R; Szigeti K; Lupski J R
The donor chromosome breakpoint for a jumping translocation is associated with large low-copy repeats in 21q21.3.
Cytogenetic and genome research 2003;101(2):118-23.

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