Sau Wai Cheung

Sau Wai Cheung

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Sau Wai Cheung

Publications by authors named "Sau Wai Cheung"

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Genome Sequencing Explores Complexity of Chromosomal Abnormalities in Recurrent Miscarriage.

Am J Hum Genet 2019 Dec 31;105(6):1102-1111. Epub 2019 Oct 31.

Centre for Reproductive Medicine, Shandong University, Jinan 250021, China; The Key laboratory of Reproductive Endocrinology (Shandong University), Ministry of Education, Jinan 250021, China; National Research Center for Assisted Reproductive Technology and Reproductive Genetics, Jinan 250021, China; Center for Reproductive Medicine, Ren Ji Hospital, School of Medicine, Shanghai Jiao Tong University, Shanghai 200135, China; Shanghai Key Laboratory for Assisted Reproduction and Reproductive Genetics, Shanghai 200135, China; Hong Kong Branches of Chinese National Engineering Research Centers - Center for Assisted Reproductive Technology and Reproductive Genetics, Hong Kong, China. Electronic address:

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http://dx.doi.org/10.1016/j.ajhg.2019.10.003DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6904795PMC
December 2019

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.

J Hum Genet 2019 Mar 12;64(3):253-255. Epub 2018 Dec 12.

Department of Molecular and Human Genetics, Baylor College of Medicine, 1 Baylor Plaza, Houston, TX, 77030, USA.

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http://dx.doi.org/10.1038/s10038-018-0543-7DOI Listing
March 2019

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

Arch Gynecol Obstet 2018 08 28;298(2):289-295. Epub 2018 May 28.

Department of Fetal Medicine and Prenatal Diagnosis center, Shanghai First Maternity and Infant Hospital, Tongji University School of Medicine, 2699 West Gaoke Rd, Pudong New District, Shanghai, 201204, China.

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http://dx.doi.org/10.1007/s00404-018-4798-1DOI Listing
August 2018

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

Birth Defects Res 2018 03 23;110(4):364-371. Epub 2018 Jan 23.

Department of Fetal Medicine Unit and Prenatal Diagnosis Center, Shanghai First Maternity and Infant Hospital of Tongji University, Shanghai, China.

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http://dx.doi.org/10.1002/bdr2.1146DOI Listing
March 2018

Balanced Chromosomal Rearrangement Detection by Low-Pass Whole-Genome Sequencing.

Curr Protoc Hum Genet 2018 01 24;96:8.18.1-8.18.16. Epub 2018 Jan 24.

Department of Obstetrics and Gynaecology, The Chinese University of Hong Kong, Hong Kong, China.

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http://doi.wiley.com/10.1002/cphg.51
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http://dx.doi.org/10.1002/cphg.51DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5924704PMC
January 2018

Positive predictive value estimates for cell-free noninvasive prenatal screening from data of a large referral genetic diagnostic laboratory.

Am J Obstet Gynecol 2017 12 13;217(6):691.e1-691.e6. Epub 2017 Oct 13.

Baylor Genetics, Baylor College of Medicine, Houston, TX; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX. Electronic address:

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http://dx.doi.org/10.1016/j.ajog.2017.10.005DOI Listing
December 2017

An Organismal CNV Mutator Phenotype Restricted to Early Human Development.

Cell 2017 02;168(5):830-842.e7

Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX 77030, USA; Department of Pediatrics, Baylor College of Medicine, Houston, TX 77030, USA; Human Genome Sequencing Center, Baylor College of Medicine, Houston, TX 77030, USA; Texas Children's Hospital, Houston, TX 77030, USA. Electronic address:

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http://dx.doi.org/10.1016/j.cell.2017.01.037DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5407901PMC
February 2017

Prenatal detection of 10q22q23 duplications: dilemmas in phenotype prediction.

Prenat Diagn 2016 Dec 29;36(13):1211-1216. Epub 2016 Nov 29.

Department of Obstetrics and Gynecology, The Chinese University of Hong Kong, Hong Kong.

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http://dx.doi.org/10.1002/pd.4959DOI Listing
December 2016

Contribution of genomic copy-number variations in prenatal oral clefts: a multicenter cohort study.

Genet Med 2016 10 25;18(10):1052-5. Epub 2016 Feb 25.

Department of Obstetrics and Gynecology, Prince of Wales Hospital, The Chinese University of Hong Kong, Hong Kong SAR, China.

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http://dx.doi.org/10.1038/gim.2015.216DOI Listing
October 2016

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

Am J Med Genet A 2016 10 10;170(10):2540-50. Epub 2016 Jun 10.

Department of Molecular and Human Genetics, Baylor College of Medicine, One Baylor Plaza, Houston, Texas.

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http://dx.doi.org/10.1002/ajmg.a.37796DOI Listing
October 2016

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

Am J Med Genet A 2015 Nov 2;167A(11):2737-41. Epub 2015 Jul 2.

Department of Human and Molecular Genetics, Baylor College of Medicine, Houston, Texas.

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http://dx.doi.org/10.1002/ajmg.a.37228DOI Listing
November 2015

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

Am J Hum Genet 2015 Nov;97(5):691-707

Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX 77030, USA; Human Genome Sequencing Center, Baylor College of Medicine, Houston, TX 77030, USA; Department of Pediatrics, Baylor College of Medicine, Houston, TX 77030, USA; Texas Children's Hospital, Houston, TX 77030, USA. Electronic address:

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https://linkinghub.elsevier.com/retrieve/pii/S00029297150040
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http://dx.doi.org/10.1016/j.ajhg.2015.10.003DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4667131PMC
November 2015

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.

Am J Med Genet A 2015 Aug 8;167A(8):1842-50. Epub 2015 Jun 8.

Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, Texas.

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http://dx.doi.org/10.1002/ajmg.a.37057DOI Listing
August 2015

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

Hum Mol Genet 2015 Jul 23;24(14):4061-77. Epub 2015 Apr 23.

Department of Molecular & Human Genetics, Department of Pediatrics and Human Genome Sequencing Center, Baylor College of Medicine, Houston, TX 77030, USA, Texas Children's Hospital, Houston, TX 77030, USA and

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http://dx.doi.org/10.1093/hmg/ddv146DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4476451PMC
July 2015

Loss of δ-catenin function in severe autism.

Nature 2015 Apr 25;520(7545):51-6. Epub 2015 Mar 25.

1] Center for Complex Disease Genomics, Johns Hopkins University School of Medicine, Baltimore, Maryland 21205, USA [2] National Institute of Mental Health (NIMH) Autism Centers of Excellence (ACE) Genetics Consortium at the University of California, Los Angeles, Los Angeles, California 90095, USA.

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http://dx.doi.org/10.1038/nature14186DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4383723PMC
April 2015

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

BMC Med Genet 2015 Mar 14;16:12. Epub 2015 Mar 14.

Department of Molecular and Human Genetics, Baylor College of Medicine, One Baylor Plaza, MS NAB 2015, Houston, TX, 77030, U.S.A.

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http://dx.doi.org/10.1186/s12881-015-0157-2DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4422130PMC
March 2015

Identification of critical regions and candidate genes for cardiovascular malformations and cardiomyopathy associated with deletions of chromosome 1p36.

PLoS One 2014 15;9(1):e85600. Epub 2014 Jan 15.

Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, Texas, United States of America ; Department of Molecular Physiology and Biophysics, Baylor College of Medicine, Houston, Texas, United States of America.

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http://journals.plos.org/plosone/article?id=10.1371/journal.pone.0085600PLOS
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3893250PMC
December 2014

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

Am J Hum Genet 2014 Nov 6;95(5):565-78. Epub 2014 Nov 6.

Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX 77030, USA; Department of Pediatrics, Baylor College of Medicine, Houston, TX 77030, USA; Texas Children's Hospital, Houston, TX 77030, USA. Electronic address:

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http://dx.doi.org/10.1016/j.ajhg.2014.10.006DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4225592PMC
November 2014

CHRNA7 triplication associated with cognitive impairment and neuropsychiatric phenotypes in a three-generation pedigree.

Eur J Hum Genet 2014 Sep 15;22(9):1071-6. Epub 2014 Jan 15.

1] Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX, USA [2] The Jan and Dan Duncan Neurological Research Institute, Texas Children's Hospital, Houston, TX, USA.

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http://dx.doi.org/10.1038/ejhg.2013.302DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4135413PMC
September 2014

Increased gene copy number of VAMP7 disrupts human male urogenital development through altered estrogen action.

Nat Med 2014 Jul 1;20(7):715-24. Epub 2014 Jun 1.

1] Scott Department of Urology, Baylor College of Medicine, Houston, Texas, USA. [2] Department of Molecular and Cellular Biology, Baylor College of Medicine, Houston, Texas, USA. [3] Center for Reproductive Medicine, Baylor College of Medicine, Houston, Texas, USA.

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http://www.nature.com/articles/nm.3580
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http://dx.doi.org/10.1038/nm.3580DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4283218PMC
July 2014

SHANK3 overexpression causes manic-like behaviour with unique pharmacogenetic properties.

Nature 2013 Nov 23;503(7474):72-7. Epub 2013 Oct 23.

1] Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, Texas 77030, USA [2] Howard Hughes Medical Institute, Baylor College of Medicine, Houston, Texas 77030, USA [3] Jan and Dan Duncan Neurological Research Institute at Texas Children's Hospital, Houston, Texas 77030, USA.

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http://dx.doi.org/10.1038/nature12630DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3923348PMC
November 2013

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

Am J Hum Genet 2012 Sep 16;91(3):444-54. Epub 2012 Aug 16.

Department of Biochemistry and Molecular Genetics and Human Medical Genetics and Neuroscience Programs, University of Colorado School of Medicine, Aurora, CO 80045, USA.

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http://dx.doi.org/10.1016/j.ajhg.2012.07.016DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3511999PMC
September 2012

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

Am J Med Genet A 2012 Aug 9;158A(8):1962-6. Epub 2012 Apr 9.

Texas Children's Hospital, Houston, Division of Child Neurology, Department of Pediatrics, Baylor College of Medicine, Houston, Texas 77030-2399, USA.

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http://dx.doi.org/10.1002/ajmg.a.35289DOI Listing
August 2012

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

Eur J Med Genet 2010 Nov-Dec;53(6):378-82. Epub 2010 Aug 18.

Department of Biology and Genetics, Medical University of Gdansk, Poland.

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http://dx.doi.org/10.1016/j.ejmg.2010.08.002DOI Listing
June 2011

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

Am J Med Genet A 2011 Jun 12;155A(6):1465-8. Epub 2011 May 12.

Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, Texas, USA.

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http://dx.doi.org/10.1002/ajmg.a.33935DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3651890PMC
June 2011

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

Am J Med Genet A 2011 Jun 12;155A(6):1442-7. Epub 2011 May 12.

Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, Texas 77030, USA.

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http://dx.doi.org/10.1002/ajmg.a.34015DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3646644PMC
June 2011

MECP2 duplications in six patients with complex sex chromosome rearrangements.

Eur J Hum Genet 2011 Apr 1;19(4):409-15. Epub 2010 Dec 1.

Medical Genetics Laboratories, Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX, USA.

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http://dx.doi.org/10.1038/ejhg.2010.195DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3060318PMC
April 2011

VACTERL association and mitochondrial dysfunction.

Birth Defects Res A Clin Mol Teratol 2011 Mar 9;91(3):192-4. Epub 2011 Feb 9.

Medical Genetics Branch, National Human Genome Research Institute, National Institutes of Health, Bethesda, Maryland 20892, USA. solomonb@ mail.nih.gov

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http://dx.doi.org/10.1002/bdra.20768DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3500509PMC
March 2011

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

Am J Med Genet A 2010 Jul;152A(7):1832-7

Division of Genetics and Genomic Medicine, Department of Pediatrics, Washington University School of Medicine, St. Louis, Missouri, USA.

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http://dx.doi.org/10.1002/ajmg.a.33475DOI Listing
July 2010