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Genetics

D-Index
40
Citations
5374
World Ranking
4342
National Ranking
160

Overview

Sylvie Langlois is affiliated with the University of British Columbia in Canada. Their research spans several areas within medicine and biochemistry, genetics and molecular biology, contributing extensively to topics related to prenatal screening and diagnostics, leukemia research, and genomics.

Their main fields of study include:

  • Medicine
  • Biochemistry, Genetics and Molecular Biology

Within these broader fields, Langlois has focused on subfields such as:

  • Pediatrics, Perinatology and Child Health
  • Genetics
  • Molecular Biology
  • Public Health, Environmental and Occupational Health
  • Hematology

The scientist's primary topics of work are:

  • Prenatal Screening and Diagnostics
  • Acute Lymphoblastic Leukemia research
  • Genomics and Rare Diseases
  • Acute Myeloid Leukemia Research
  • Genomic variations and chromosomal abnormalities
  • Fetal and Pediatric Neurological Disorders
  • Cancer Genomics and Diagnostics

Langlois has published extensively in several venues, with a concentration in:

  • Prenatal Diagnosis
  • bioRxiv (Cold Spring Harbor Laboratory)
  • Clinical Genetics
  • Cancer Research
  • Journal of Medical Genetics

Frequent collaborators in their research include:

  • Daniel Sinnett
  • Thomas Sontag
  • Raoul Santiago
  • Thai Hoa Tran
  • Sonia Cellot

Selected recent papers by Sylvie Langlois are:

  • Whole-transcriptome analysis in acute lymphoblastic leukemia: a report from the DFCI ALL Consortium Protocol 16-001, 2021, Blood Advances
  • Current controversies in prenatal diagnosis: Expanded NIPT that includes conditions other than trisomies 13, 18, and 21 should be offered, 2021, Prenatal Diagnosis
  • Out-of-pocket and private pay in clinical genetic testing: A scoping review, 2021, Clinical Genetics
  • Clinical application of fetal genome-wide sequencing during pregnancy: position statement of the Canadian College of Medical Geneticists, 2021, Journal of Medical Genetics
  • Etiologies and outcomes of prenatally diagnosed hyperechogenic kidneys, 2020, Prenatal Diagnosis

Best Publications

  • Evidence for multi‐site closure of the neural tube in humans

    Margot I. Van Allen;Dagmar K. Kalousek;Gerold F. Chernoff;Diana Juriloff

  • Oligonucleotide microarray analysis of genomic imbalance in children with mental retardation.

    J. M. Friedman;Ágnes Baross;Allen D. Delaney;Adrian Ally

  • Mutations in NGLY1 cause an inherited disorder of the endoplasmic reticulum-associated degradation pathway

    Gregory M. Enns;Vandana Shashi;Matthew Bainbridge;Michael J. Gambello

  • The Spectrum of Mutations in UBE3A Causing Angelman Syndrome

    Ping Fang;Efrat Lev-Lehman;Ting Fen Tsai;Toshinobu Matsuura;Toshinobu Matsuura

  • Mutations in origin recognition complex gene ORC4 cause Meier-Gorlin syndrome

    Duane L Guernsey;Makoto Matsuoka;Haiyan Jiang;Susan Evans

  • Skewed X-Chromosome Inactivation Is Common in Fetuses or Newborns Associated with Confined Placental Mosaicism

    Aster W. Lau;Carolyn J. Brown;Maria Peñaherrera;Sylvie Langlois

  • Parental origin of triploidy in human fetuses: Evidence for genomic imprinting

    Deborah E. McFadden;Linda C. Kwong;Irene Y. L. Yam;Sylvie Langlois

  • Transferrin receptor 2 (TfR2) and HFE mutational analysis in non-C282Y iron overload: identification of a novel TfR2 mutation

    Andre Mattman;David Huntsman;Gillian Lockitch;Sylvie Langlois

  • Maternal Meiosis I Non-Disjunction of Chromosome 15: Dependence of the Maternal Age Effect on Level of Recombination

    W. P. Robinson;B. D. Kuchinka;F. Bernasconi;M. B. Petersen

  • A major insertion accounts for a significant proportion of mutations underlying human lipoprotein lipase deficiency

    Sylvie Langlois;Samir Deeb;John D. Brunzell;John J. Kastelein

  • Submicroscopic deletions and duplications in individuals with intellectual disability detected by array-CGH.

    C. Tyson;C. Harvard;R. Locker;J.M. Friedman

  • Prenatal and postnatal growth failure associated with maternal heterodisomy for chromosome 7.

    S Langlois;S L Yong;R D Wilson;L C Kwong

  • Novel deletions of 14q11.2 associated with developmental delay, cognitive impairment and similar minor anomalies in three children

    Farah Zahir;Helen V Firth;Agnes Baross;Allen D Delaney

  • ACTB Loss-of-Function Mutations Result in a Pleiotropic Developmental Disorder

    Sara Cuvertino;Helen M. Stuart;Helen M. Stuart;Kate E. Chandler;Neil A. Roberts

  • Characterization of six partial deletions in the low-density-lipoprotein (LDL) receptor gene causing familial hypercholesterolemia (FH).

    S. Langlois;J. J. P. Kastelein;M. R. Hayden

  • Comparison of phenotype in uniparental disomy and deletion Prader‐Willi syndrome: Sex specific differences

    John Mitchell;Albert Schinzel;Sylvie Langlois;Gabriele Gillessen-Kaesbach

  • Cytogenetic and age-dependent risk factors associated with uniparental disomy 15.

    W. P. Robinson;S. Langlois;S. Schuffenhauer;B. Horsthemke

  • Frequency of fetal cells in sorted subpopulations of nucleated erythroid and CD34+ hematopoietic progenitor cells from maternal peripheral blood.

    Marie Térèse Little;Sylvie Langlois;R. Douglas Wilson;Peter M. Lansdorp

  • Trisomy 7 CVS mosaicism: Pregnancy outcome, placental and DNA analysis in 14 cases

    D.K. Kalousek;S. Langlois;W.P. Robinson;A. Telenius

  • Parental and meiotic origin of triploidy in the embryonic and fetal periods.

    D E McFadden;S Langlois

Frequent Co-Authors

David Chitayat
David Chitayat University of Toronto
Wendy P. Robinson
Wendy P. Robinson University of British Columbia
Jan M. Friedman
Jan M. Friedman University of British Columbia
Marco A. Marra
Marco A. Marra University of British Columbia
Dagmar K. Kalousek
Dagmar K. Kalousek University of British Columbia
Daniel Sinnett
Daniel Sinnett University of Montreal
Michael R. Hayden
Michael R. Hayden University of British Columbia
Guy A. Rouleau
Guy A. Rouleau Montreal Neurological Institute and Hospital
Albert Schinzel
Albert Schinzel University of Zurich
Cornelius F. Boerkoel
Cornelius F. Boerkoel University of British Columbia

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