Danielle Bourque - Women's Health Research Institute

基本信息

Career Trajectory

Bio

Dr. Danielle Bourque currently works as a Clinical and Biochemical Geneticist in the Division of Metabolics and Newborn Screening at the Children's Hospital of Eastern Ontario in Ottawa, Canada. Dr. Bourque is also an Assistant Professor of Pediatrics at the University of Ottawa. Dr. Bourque does research in Genetics, Molecular Biology, and Biochemical Genetics with a focus on syndrome delineation and natural history of rare genetic conditions.

Research Interests

Papers共 19 篇Author StatisticsCo-AuthorSimilar Experts

By YearBy Citation主题筛选期刊级别筛选合作者筛选合作机构筛选

The Diagnostic Yield of Genetic and Metabolic Investigations in Syndromic and Nonsyndromic Patients with Autism Spectrum Disorder, Global Developmental Delay, or Intellectual Disability from a Dedicated Neurodevelopmental Disorders Genetics Clinic

Julianne K. Postma, Mary-Ann Harrison, Stephen Kutcher, Richard J. Webster,Mireille Cloutier,Danielle K. Bourque, Andrea C. Yu, Melissa T. Carter

AMERICAN JOURNAL OF MEDICAL GENETICS PART Ano. 11 (2024)

Cited0Views0WOSBibtex

Can Endogenous Ethylene Glycol Production Occur in Humans? A Detailed Investigation of Adult Monozygotic Twin Sisters

Marc Ghannoum, Paula J. Waters,Knut Erik Hovda, Gabrielle Choquette,Katja Benedikte Presto Elgstoen, Ilah Nygaard,Helge Rootwelt, Dean Hickey,Mazyar Yazdani,Danielle K. Bourque

Clinical toxicology (Philadelphia, Pa)no. 11 (2024): 698-706

Cited0Views0WOSBibtex

A Novel Splice Site CUL3 Variant in a Patient with Neurodevelopmental Delay

Krista M. Vincent,Danielle K. Bourque

Brain & developmentno. 4 (2023): 244-249

Cited1Views0WOSBibtex

The Mitochondrial Trna MT-TW M.5537_5538inst Variant Presents with Significant Intra-Familial Clinical Variability

Lauren Strasser,Asif Doja,Jorge Davila,Pranesh Chakraborty,Danielle K. Bourque

American Journal of Medical Genetics Part Ano. 12 (2023): 2890-2897

Cited1Views0WOSBibtex

Bridging Clinical Care and Research in Ontario, Canada: Maximizing Diagnoses from Reanalysis of Clinical Exome Sequencing Data

Taila Hartley, Elisabeth Soubry,Meryl Acker,Matthew Osmond,Madeline Couse,Meredith K. Gillespie,Yoko Ito,Aren E. Marshall,Gabrielle Lemire,Lijia Huang,Caitlin Chisholm,Alison J. Eaton,E. Magda Price,James J. Dowling,Arun K. Ramani,Roberto Mendoza-Londono,Gregory Costain,Michelle M. Axford,Anna Szuto,Vanda McNiven,Nadirah Damseh,Rebekah Jobling,Leanne de Kock,Bahareh A. Mojarad,Ted Young,Zhuo Shao,Robin Z. Hayeems,Ian D. Graham,Mark Tarnopolsky,Lauren Brady,Christine M. Armour,Michael Geraghty,Julie Richer,Sarah Sawyer,Matthew Lines,Saadet Mercimek-Andrews,Melissa T. Carter,Gail Graham,Peter Kannu,Joanna Lazier,Chumei Li,Ritu B. Aul,Tugce B. Balci,Nomazulu Dlamini,Lauren Badalato,Andrea Guerin,Jagdeep Walia,David Chitayat,Ronald Cohn,Hanna Faghfoury,Cynthia Forster-Gibson,Hernan Gonorazky,Eyal Grunebaum,Michal Inbar-Feigenberg,Natalya Karp,Chantal Morel,Alison Rusnak,Neal Sondheimer,Jodi Warman-Chardon,Priya T. Bhola,Danielle K. Bourque, Inara J. Chacon,Lauren Chad,Pranesh Chakraborty,Karen Chong,Asif Doja,Elaine Suk-Ying Goh,Maha Saleh,Beth K. Potter,Christian R. Marshall,David A. Dyment,Kristin Kernohan,Kym M. Boycott

CLINICAL GENETICS（2023）

Cited2Views0WOSBibtex

Endogenous ethylene glycol production in monozygotic twins

Marc Ghannoum,Joe Rigley, Dean Hickey, Sylvie Robichaud,Danielle K. Bourque,David Skidmore

CLINICAL TOXICOLOGY（2022）

Cited0Views0Bibtex

Phenotypic and Genotypic Spectrum of Glucose Transporter-1 Deficiency Syndrome

Danielle K. Bourque,Dawn Cordeiro,Graeme A. M. Nimmo,Jeff Kobayashi,Saadet Mercimek-Andrews

CANADIAN JOURNAL OF NEUROLOGICAL SCIENCES（2021）

Cited7Views0WOSBibtex

Gastroschisis in Ontario, Canada: 2012–2018

Danielle K. Bourque,Lynn Meng,Shelley Dougan,Franco Momoli,Catherine Riddell,Mark Walker,Christine M. Armour

Birth defects researchno. 14 (2021): 1044-1051

Cited4Views0WOSBibtex

GASTROSCHISIS IN ONTARIO, CANADA: 2012-2017

D. K. Bourque,S. Dougan,L. Meng,F. Momoli,C. Riddell,C. M. Armour

AMERICAN JOURNAL OF MEDICAL GENETICS PART A（2020）

Cited3Views0Bibtex

Outcomes of patients with cobalamin C deficiency: A single center experience

Danielle K Bourque, Lizbeth E Mellin-Sanchez,Garrett Bullivant,Vivian Cruz, Anette Feigenbaum,Stacy Hewson,Julian Raiman,Andreas Schulze,Komudi Siriwardena,Saadet Mercimek-Andrews

JIMD reports（2020）

Cited8Views0WOSBibtex

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