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Genetics

D-Index
83
Citations
21473
World Ranking
1429
National Ranking
674

Overview

Sau Wai Cheung is affiliated with Baylor College of Medicine in the United States. Their research primarily focuses on biochemistry, genetics, and molecular biology, with a significant emphasis on genetics and pediatrics, perinatology, and child health.

Their recent publications include the following papers:

  • CNVs cause autosomal recessive genetic diseases with or without involvement of SNV/indels, 2020, Genetics in Medicine
  • Noninvasive prenatal screening for fetal sex chromosome aneuploidies, 2021, Expert Review of Molecular Diagnostics
  • Deciphering the complexity of simple chromosomal insertions by genome sequencing, 2020, Human Genetics
  • Cytogenetically visible inversions are formed by multiple molecular mechanisms, 2020, Human Mutation
  • Parental somatic mosaicism for CNV deletions - A need for more sensitive and precise detection methods in clinical diagnostics settings, 2020, Genomics

Sau Wai Cheung collaborates repeatedly with several frequent coauthors, including:

  • Weimin Bi
  • Janice Smith
  • Carlos A. Bacino
  • James R. Lupski
  • Paweł Stankiewicz

The scientist has published frequently in venues such as:

  • Genetics in Medicine
  • Human Genetics
  • Expert Review of Molecular Diagnostics
  • Human Mutation
  • Genomics

Their work covers main fields of study including biochemistry, genetics and molecular biology, and medicine. Subfields of particular focus are genetics, pediatrics, perinatology and child health, molecular biology, plant science, and infectious diseases.

Key research topics explored by Sau Wai Cheung encompass:

  • Genomic variations and chromosomal abnormalities
  • Prenatal screening and diagnostics
  • Genomics and rare diseases
  • Chromosomal and genetic variations
  • Gene expression and cancer classification
  • Congenital heart defects research
  • Parvovirus B19 infection studies

Best Publications

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

    Trilochan Sahoo;Daniela del Gaudio;Jennifer R German;Marwan Shinawi

  • Recurrent reciprocal 1q21.1 deletions and duplications associated with microcephaly or macrocephaly and developmental and behavioral abnormalities

    Nicola Brunetti-Pierri;Jonathan S. Berg;Fernando Scaglia;John Belmont

  • High-resolution genomic profiling of chromosomal aberrations using Infinium whole-genome genotyping

    Daniel A. Peiffer;Jennie M. Le;Frank J. Steemers;Weihua Chang

  • Recurrent reciprocal 16p11.2 rearrangements associated with global developmental delay, behavioural problems, dysmorphism, epilepsy, and abnormal head size

    Marwan Shinawi;Pengfei Liu;Sung Hae L Kang;Joseph Shen

  • Chromosome catastrophes involve replication mechanisms generating complex genomic rearrangements

    Pengfei Liu;Ayelet Erez;Sandesh C.Sreenath Nagamani;Shweta U. Dhar

  • Genomic and genic deletions of the FOX gene cluster on 16q24.1 and inactivating mutations of FOXF1 cause alveolar capillary dysplasia and other malformations.

    Paweł Stankiewicz;Partha Sen;Samarth S. Bhatt;Mekayla Storer

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

    Kihoon Han;Kihoon Han;J. Lloyd Holder;J. Lloyd Holder;Christian P. Schaaf;Christian P. Schaaf;Hui Lu;Hui Lu

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

    Daniela del Gaudio;Ping Fang;Fernando Scaglia;Patricia A Ward

  • Development and validation of a CGH microarray for clinical cytogenetic diagnosis

    Sau W Cheung;Chad A Shaw;Wei Yu;Jiangzham Li

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

    Philip M. Boone;Carlos A. Bacino;Chad A. Shaw;Patricia A. Eng

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

    Jonathan S. Berg;Nicola Brunetti-Pierri;Sarika U. Peters;Sung Hae L. Kang

  • Parental Somatic Mosaicism Is Underrecognized and Influences Recurrence Risk of Genomic Disorders

    Ian M. Campbell;Bo Yuan;Caroline Robberecht;Rolph P. Pfundt

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

    Xinyan Lu;Chad A. Shaw;Ankita Patel;Jiangzhen Li

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

    S. Ben-Shachar;B. Lanpher;J. R. German;M. Qasaymeh

  • Increased LIS1 expression affects human and mouse brain development

    Weimin Bi;Tamar Sapir;Oleg A. Shchelochkov;Feng Zhang

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

    Ignatia B. Van Den Veyver;Ankita Patel;Chad A. Shaw;Amber N. Pursley

  • 22q11.2 Distal Deletion: A Recurrent Genomic Disorder Distinct from DiGeorge Syndrome and Velocardiofacial Syndrome

    Shay Ben-Shachar;Zhishuo Ou;Chad A. Shaw;John W. Belmont

  • Mutations in the chromatin modifier gene KANSL1 cause the 17q21.31 microdeletion syndrome

    David A. Koolen;Jamie M. Kramer;Kornelia Neveling;Willy M. Nillesen

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

    Sau W. Cheung;Chad A. Shaw;Daryl A. Scott;Ankita Patel

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

    Claudia M.B. Carvalho;Feng Zhang;Pengfei Liu;Ankita Patel

Frequent Co-Authors

Pawel Stankiewicz
Pawel Stankiewicz Baylor College of Medicine
James R. Lupski
James R. Lupski Baylor College of Medicine
Ankita Patel
Ankita Patel Baylor College of Medicine
Chad A. Shaw
Chad A. Shaw Baylor College of Medicine
Seema R. Lalani
Seema R. Lalani Baylor College of Medicine
Carlos A. Bacino
Carlos A. Bacino Baylor College of Medicine
Arthur L. Beaudet
Arthur L. Beaudet Baylor College of Medicine
Christian P. Schaaf
Christian P. Schaaf Baylor College of Medicine
A. Craig Chinault
A. Craig Chinault Baylor College of Medicine
Ayelet Erez
Ayelet Erez Weizmann Institute of Science

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