Faculty profile

Nathalie Lepage

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Full ProfessorPathology and Laboratory MedicineUniversity of Ottawa

Signals and details

Research

Read how they describe their research on their University of Ottawa profile.

Latest papers

Fetal Fraction Methodologies and Their Clinical Use: Results of a College of American Pathologists Exercise.
The journal of applied laboratory medicine · 2025
Numbers of prenatal cell-free DNA screens performed: Results of a 2022 CAP exercise.
Prenatal diagnosis · 2024
Prenatal serum screening for Down syndrome and neural tube defects in the United States: Changes in utilization patterns from 2012 to 2020.
Journal of medical screening · 2021 · first author

All 24 publications

Latest funding

CALIPER: A Canada-Wide Initiative to Close the Critical Gaps in Pediatric Reference Intervals
CIHR · 2011 · Co-investigator
$789,727
CALIPER: Closing the Gaps in Pediatric Reference Intervals
CIHR · 2010 · Co-investigator
$100,000

All 2 grants and awards

24 publications.

Fetal Fraction Methodologies and Their Clinical Use: Results of a College of American Pathologists Exercise.

Palomaki GE, Wyatt P, Rowsey RA, Cacheris PM, Lepage N, Natowicz MR, Long T, Moyer AM

The journal of applied laboratory medicine2025

DOI: 10.1093/jalm/jfaf062 PMID: 40376925

Numbers of prenatal cell-free DNA screens performed: Results of a 2022 CAP exercise.

Palomaki GE, Wyatt P, Rowsey R, Cacheris PM, Lepage N, Natowicz MR, Long T, Moyer AM

Prenatal diagnosis2024

DOI: 10.1002/pd.6574 PMID: 38622635

Prenatal serum screening for Down syndrome and neural tube defects in the United States: Changes in utilization patterns from 2012 to 2020.

Lepage N, Wyatt P, Ashwood ER, Best RG, Long T, Palomaki GE

Journal of medical screening2021First author

DOI: 10.1177/09691413211031610 PMID: 34279151

Assessment of laboratories offering cell-free (cf) DNA screening for Down syndrome: results of the 2018 College of American Pathology External Educational Exercises.

Palomaki GE, Wyatt P, Best RG, Lepage N, Ashwood ER, Souers RJ, Thorson JA

Genetics in medicine : official journal of the American College of Medical Genetics2020

DOI: 10.1038/s41436-019-0718-4 PMID: 31929509

PLPHP deficiency: clinical, genetic, biochemical, and mechanistic insights.

Johnstone DL, Al-Shekaili HH, Tarailo-Graovac M, Wolf NI, Ivy AS, Demarest S, Roussel Y, Ciapaite J, van Roermund CWT, Kernohan KD, Kosuta C, Ban K, Ito Y, McBride S, Al-Thihli K, Abdelrahim RA, Koul R, Al Futaisi A, Haaxma CA, Olson H, Sigurdardottir LY, Arnold GL, Gerkes EH, Boon M, Heiner-Fokkema MR, Noble S, Bosma M, Jans J, Koolen DA, Kamsteeg EJ, Drögemöller B, Ross CJ, Majewski J, Cho MT, Begtrup A, Wasserman WW, Bui T, Brimble E, Violante S, Houten SM, Wevers RA, van Faassen M, Kema IP, Lepage N, Care4Rare Canada Consortium, Lines MA, Dyment DA, Wanders RJA, Verhoeven-Duif N, Ekker M, Boycott KM, Friedman JM, Pena IA, van Karnebeek CDM

Brain : a journal of neurology2019

DOI: 10.1093/brain/awy346 PMID: 30668673

Glycine decarboxylase deficiency-induced motor dysfunction in zebrafish is rescued by counterbalancing glycine synaptic level.

Riché R, Liao M, Pena IA, Leung KY, Lepage N, Greene NDE, Sarafoglou K, Schimmenti LA, Drapeau P, Samarut É

JCI insight2018

DOI: 10.1172/jci.insight.124642 PMID: 30385710

A novel method for quantitation of acylglycines in human dried blood spots by UPLC-tandem mass spectrometry.

Fisher L, Davies C, Al-Dirbashi OY, Ten Brink HJ, Chakraborty P, Lepage N

Clinical biochemistry2018Senior author

DOI: 10.1016/j.clinbiochem.2018.01.020 PMID: 29402417

Pyridoxine-Dependent Epilepsy in Zebrafish Caused by Aldh7a1 Deficiency.

Pena IA, Roussel Y, Daniel K, Mongeon K, Johnstone D, Weinschutz Mendes H, Bosma M, Saxena V, Lepage N, Chakraborty P, Dyment DA, van Karnebeek CDM, Verhoeven-Duif N, Bui TV, Boycott KM, Ekker M, MacKenzie A

Genetics2017

DOI: 10.1534/genetics.117.300137 PMID: 29061647

Improving the translation of novel biomarkers to clinical practice: The story of cystatin C implementation in Canada: A professional practice column.

Ismail OZ, Bhayana V, Kadour M, Lepage N, Gowrishankar M, Filler G

Clinical biochemistry2017

DOI: 10.1016/j.clinbiochem.2017.01.005 PMID: 28088453

Tandem MS: it's now the norm.

Jones PM, Lepage N

Clinical biochemistry2015Senior author

DOI: 10.1016/j.clinbiochem.2014.12.008 PMID: 25512231

Profile data last refreshed on September 25, 2026 from the university directory, publication records and CIHR, NSERC and SSHRC funding.

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Nathalie Lepage

Research

Latest papers

Latest funding

Fetal Fraction Methodologies and Their Clinical Use: Results of a College of American Pathologists Exercise.

Numbers of prenatal cell-free DNA screens performed: Results of a 2022 CAP exercise.

Prenatal serum screening for Down syndrome and neural tube defects in the United States: Changes in utilization patterns from 2012 to 2020.

Assessment of laboratories offering cell-free (cf) DNA screening for Down syndrome: results of the 2018 College of American Pathology External Educational Exercises.

PLPHP deficiency: clinical, genetic, biochemical, and mechanistic insights.

Glycine decarboxylase deficiency-induced motor dysfunction in zebrafish is rescued by counterbalancing glycine synaptic level.

A novel method for quantitation of acylglycines in human dried blood spots by UPLC-tandem mass spectrometry.

Pyridoxine-Dependent Epilepsy in Zebrafish Caused by Aldh7a1 Deficiency.

Improving the translation of novel biomarkers to clinical practice: The story of cystatin C implementation in Canada: A professional practice column.

Tandem MS: it's now the norm.

CALIPER: A Canada-Wide Initiative to Close the Critical Gaps in Pediatric Reference Intervals

CALIPER: Closing the Gaps in Pediatric Reference Intervals

Frequent collaborators

Ayub Akbari

Pranesh Chakraborty

Marc Ekker

Mark Walker

Murray Alexander Potter

Jacek Majewski

Maja Tarailo-Graovac

Tuan Bui

Erin Keely

Peter Kavsak

Pierre Drapeau