Faculty profile

Andrea Guerin

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Associate ProfessorPathologyQueen's University

Andrea Guerin

Associate Professor

Pathology

Queen's University

Kingston, Ontario, Canada

Supervision signals

Professors usually supervise graduate students in their department's programs.
12 publications in the last five years, latest in 2026.
Senior (last) author on 1 recent paper, a sign of leading a research group.

These signals come from public records, including federal and provincial funding decisions. Ask the professor or the graduate program whether they are taking new students.

Academic metrics

Publications

279

Citations

Collaborators

Publications by year

Counts cover the publications linked to this profile. Citations and the h-index appear when the source records them.

Profiles and links

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Signals and details

Research

Read how they describe their research on their Queen's University profile.

Latest papers

An X-linked long non-coding RNA, PTCHD1-AS, and the core features of autism.
Nature · 2026
Mainstreaming of clinical genetic testing: A conceptual framework.
Genetics in medicine : official journal of the American College of Medical Genetics · 2025
How genetic advances are being translated into improved diagnostic outcomes for patients with inherited bleeding disorders.
Blood vessels, thrombosis & hemostasis · 2025

All 21 publications

21 publications.

An X-linked long non-coding RNA, PTCHD1-AS, and the core features of autism.

Bradley CA, Ko SY, Tian M, Ralph LT, D'Abate L, Lee J, Liu T, Wang J, Tidball P, Mendes M, Fan X, Howe JL, Alexandrova R, Pellecchia G, Casallo G, Paton T, Wybenga-Groot LE, Engchuan W, Thiruvahindrapuram B, Trost B, de Rijke J, Kadia A, Jin F, Salazar NB, Diaz-Mejia JJ, MacDonald JR, Deneault E, Ross PJ, Ellis J, Shum C, Georgiou J, Rennie O, Reuter MS, Hoang N, Sarikaya E, Selvanayagam T, Amini AE, Rutherford A, Rivera-Alfaro N, Marshall CR, Scala M, Runke CK, Kearney HM, Christodoulou J, Francis DI, Chung BHY, Pluciniczak J, Iaboni A, Wigby KM, Nordahl CW, Amaral DG, Hudson ML, Sjaarda CP, Guerin A, Elsabbagh M, Landa R, Mital S, Lesurf R, Jain A, Wilson MD, Ellegood J, Lerch JP, Lee LJ, Frey BJ, Salter MW, Vorstman JAS, Anagnostou E, Frankland PW, Collingridge GL, Scherer SW

Nature20264 citationsOpen Access

DOI: 10.1038/s41586-026-10515-6 PMID: 42129557

Mainstreaming of clinical genetic testing: A conceptual framework.

Mackley MP, Richer J, Guerin A, Caluseriu O, Armstrong L, Blood KA, Bernier F, Boswell-Patterson C, Chard M, Costain G, Dyment D, Eaton A, Faghfoury H, Frosk P, Gillespie MK, Goh ES, Hayeems RZ, Hashemi B, Innes AM, Jackson M, Laberge AM, Limoges J, Marshall C, McMillan H, Nelson TN, Osmond M, Parboosingh J, Penney L, Prince B, Sawyer SL, Siu VM, Thomas MA, Turner L, Villeneuve-Cloutier N, Hartley T, Boycott KM

Genetics in medicine : official journal of the American College of Medical Genetics202520 citationsOpen Access

DOI: 10.1016/j.gim.2025.101465 PMID: 40417744

How genetic advances are being translated into improved diagnostic outcomes for patients with inherited bleeding disorders.

Chaigneau M, Bowman M, Guerin A, James P

Blood vessels, thrombosis & hemostasis20252 citationsOpen Access

DOI: 10.1016/j.bvth.2025.100090 PMID: 40979219

Genomic testing for bleeding disorders (GT4BD): protocol for a randomised controlled trial evaluating the introduction of whole genome sequencing early in the diagnostic pathway for patients with inherited bleeding disorders as compared with standard of care.

Chaigneau M, Bowman M, Grabell J, Conboy M, Johnson A, Thorpe K, Guerin A, Dinchong R, Paterson A, Good D, Mahar A, Callum J, Wheaton L, Leung J, Khalife R, Sholzberg M, Lillicrap D, James PD

BMJ open20251 citationsOpen Access

DOI: 10.1136/bmjopen-2025-102041 PMID: 40246558

Evaluation of the diagnostic accuracy of exome sequencing and its impact on diagnostic thinking for patients with rare disease in a publicly funded health care system: A prospective cohort study

Hartley T, Marshall D, Acker M, Fooks K, Gillespie MK, Price EM, Graham ID, White-Brown A, MacKay L, Macdonald SK

Genetics in Medicine202410 citationsOpen Access

DOI: 10.1016/j.gim.2023.101012

Heterozygous UBR5 variants result in a neurodevelopmental syndrome with developmental delay, autism, and intellectual disability

Pascale Sabeh, Samantha A Dumas, Claudia Maios, Hiba Daghar, Marek Korzeniowski, Justine Rousseau, Matthew A. Lines, Andrea A. Guerin, J Gordon Millichap, Megan Landsverk, Theresa A. Grebe, Kristin Lindstrom, Jonathan B. Strober, Tarik Ait Mouhoub, Christiane Zweier, Michelle Steinraths, Moritz Hebebrand, Bert Louis Callewaert, Rami Abou Jamra, Monika Kautza-Lucht, Meret Wegler, Paul S. Kruszka, Candy Kumps, Ehud Banne, Marta Biderman Waberski, Anne Dieux, Sarah E. Raible, Ian D. Krantz, Līvija Medne, Kieran B. Pechter, et al. (69 authors)

The American Journal of Human Genetics20248 citationsOpen Access

DOI: 10.1016/j.ajhg.2024.11.009 PMID: 39721588

Molecular characterization of 13 patients with PIK3CA-related overgrowth spectrum using a targeted deep sequencing approach.

de Kock L, Cuillerier A, Gillespie M, Couse M, Hartley T, Mears W, Bernier FP, Chudley AE, Frosk P, Nikkel SM, Innes AM, Lauzon J, Thomas M, Guerin A, Armour CM, Weksberg R, Scott JN, Watkins D, Harvey S, Cytrynbaum C, Care4Rare Canada Consortium, Kernohan KD, Boycott KM

American journal of medical genetics. Part A20245 citations

DOI: 10.1002/ajmg.a.63466 PMID: 37949664

Bridging clinical care and research in Ontario, Canada: Maximizing diagnoses from reanalysis of clinical exome sequencing data

Hartley T, Soubry É, Acker M, Osmond M, Couse M, Gillespie MK, Ito Y, Marshall AE, Lemire G, Huang L

Clinical Genetics202315 citations

DOI: 10.1111/cge.14262

Scope of coverage of medical genetics and genomics in pre-clerkship programs of Canadian faculties of medicine: A curriculum analysis.

Ouellet J, Lapointe J, Raîche C, Guerin A, Helal S, Fitzpatrick J, Dorval M, Nabi H

American journal of medical genetics. Part A20232 citations

DOI: 10.1002/ajmg.a.62978 PMID: 36164991

Variant-specific changes in RAC3 function disrupt corticogenesis in neurodevelopmental phenotypes.

Scala M, Nishikawa M, Ito H, Tabata H, Khan T, Accogli A, Davids L, Ruiz A, Chiurazzi P, Cericola G, Schulte B, Monaghan KG, Begtrup A, Torella A, Pinelli M, Denommé-Pichon AS, Vitobello A, Racine C, Mancardi MM, Kiss C, Guerin A, Wu W, Gabau Vila E, Mak BC, Martinez-Agosto JA, Gorin MB, Duz B, Bayram Y, Carvalho CMB, Vengoechea JE, Chitayat D, Tan TY, Callewaert B, Kruse B, Bird LM, Faivre L, Zollino M, Biskup S, Undiagnosed Diseases Network, Telethon Undiagnosed Diseases Program, Striano P, Nigro V, Severino M, Capra V, Costain G, Nagata KI

Brain : a journal of neurology202253 citationsOpen Access

DOI: 10.1093/brain/awac106 PMID: 35851598

Profile data last refreshed on September 29, 2026 from the university directory, publication records and public research funding records.

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Andrea Guerin

Research

Latest papers

An X-linked long non-coding RNA, PTCHD1-AS, and the core features of autism.

Mainstreaming of clinical genetic testing: A conceptual framework.

How genetic advances are being translated into improved diagnostic outcomes for patients with inherited bleeding disorders.

Genomic testing for bleeding disorders (GT4BD): protocol for a randomised controlled trial evaluating the introduction of whole genome sequencing early in the diagnostic pathway for patients with inherited bleeding disorders as compared with standard of care.

Evaluation of the diagnostic accuracy of exome sequencing and its impact on diagnostic thinking for patients with rare disease in a publicly funded health care system: A prospective cohort study

Heterozygous UBR5 variants result in a neurodevelopmental syndrome with developmental delay, autism, and intellectual disability

Molecular characterization of 13 patients with PIK3CA-related overgrowth spectrum using a targeted deep sequencing approach.

Bridging clinical care and research in Ontario, Canada: Maximizing diagnoses from reanalysis of clinical exome sequencing data

Scope of coverage of medical genetics and genomics in pre-clerkship programs of Canadian faculties of medicine: A curriculum analysis.

Variant-specific changes in RAC3 function disrupt corticogenesis in neurodevelopmental phenotypes.

Frequent collaborators

Taila Hartley

Greg Costain

Kym Boycott

Gregory Costain

Robin Hayeems

Kristin Kernohan

Rosanna Weksberg

David Dyment

Lauren Badalato

Grace Yoon

Hernan Gonorazky

Roberto Mendoza-Londono

Michael Geraghty

Elaine Goh

Gail Graham

Luc Mertens

Philippe Campeau

James Dowling

Jodi Warman Chardon

Ian Graham

Peter Kannu

Lauren Chad

Vanda McNiven

Mark Tarnopolsky

Ronald Cohn

Christian Marshall

Michal Inbar-Feigenberg

Laura Wheaton

Omar Islam

Ted Young

Michelle Sholzberg