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Laura Russell

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Clinical Associate ProfessorDepartment of Human GeneticsMcGill University

Laura Russell

Clinical Associate Professor

Department of Human Genetics

Faculty of Medicine and Health Sciences

McGill University

Montreal, Quebec, Canada

Supervision signals

Clinical faculty often co-supervise; many graduate programs need a core faculty member as the main supervisor.
3 publications in the last five years, latest in 2025.

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Publications

189

Citations

Collaborators

Publications by year

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Research

Read how they describe their research on their McGill University profile.

Latest papers

Shashi-Pena syndrome with late-onset specific hypogammaglobinaemia and autoimmune cytopenia.
BMJ case reports · 2025
Expanding PIGM‐related disorders to coding mutations
Journal of the European Academy of Dermatology and Venereology · 2025
Biallelic variants in TUBGCP6 result in microcephaly and chorioretinopathy 1: Report of four cases and a literature review.
American journal of medical genetics. Part A · 2023

All 15 publications

15 publications.

Shashi-Pena syndrome with late-onset specific hypogammaglobinaemia and autoimmune cytopenia.

Al Ali A, Saidalani A, Yeganeh M, Russell L, Alizadehfar R, Noya F, McCusker C, Mazer B

BMJ case reports2025

DOI: 10.1136/bcr-2024-263643 PMID: 40759503

Expanding PIGM‐related disorders to coding mutations

Romain Nicolle, Laura Russell, Véronique Abadie, Patrick Nitschké, Christine Bole, Simon‐Pierre Guay, Thi Tuyet Mai Nguyen, Stéphanie Leclerc‐Mercier, Stanislas Lyonnet, Julie Steffann, Philippe M. Campeau, Jacob Mashiah, Christine Bodemer, Smail Hadj-Rabia, Jeanne Amiel

Journal of the European Academy of Dermatology and Venereology2025Open Access

DOI: 10.1111/jdv.20578 PMID: 39912323

Biallelic variants in TUBGCP6 result in microcephaly and chorioretinopathy 1: Report of four cases and a literature review.

Thomas-Wilson A, Schacht JP, Chitayat D, Blaser S, Santos FJR, Glaser K, Caffo A, Wentzensen IM, Henderson LB, Zhang F, Zhu Y, Di Corleto E, da Silva Costa F, Vink R, Alkhunaizi E, Russell L, Buckley MF, Roscioli T, Pereira EM, Ganapathi M

American journal of medical genetics. Part A2023

DOI: 10.1002/ajmg.a.63203 PMID: 37031378

Isolated bilateral congenital lacrimal gland agenesis-a case series.

Alghazawi N, Modabber M, Darwich R, Saskin A, Russell L, Saint-Martin C, Khan A

Journal of AAPOS : the official publication of the American Association for Pediatric Ophthalmology and Strabismus2021

DOI: 10.1016/j.jaapos.2020.11.008 PMID: 33601047

Widening of the genetic and clinical spectrum of Lamb-Shaffer syndrome, a neurodevelopmental disorder due to SOX5 haploinsufficiency.

Zawerton A, Mignot C, Sigafoos A, Blackburn PR, Haseeb A, McWalter K, Ichikawa S, Nava C, Keren B, Charles P, Marey I, Tabet AC, Levy J, Perrin L, Hartmann A, Lesca G, Schluth-Bolard C, Monin P, Dupuis-Girod S, Guillen Sacoto MJ, Schnur RE, Zhu Z, Poisson A, El Chehadeh S, Alembik Y, Bruel AL, Lehalle D, Nambot S, Moutton S, Odent S, Jaillard S, Dubourg C, Hilhorst-Hofstee Y, Barbaro-Dieber T, Ortega L, Bhoj EJ, Masser-Frye D, Bird LM, Lindstrom K, Ramsey KM, Narayanan V, Fassi E, Willing M, Cole T, Salter CG, Akilapa R, Vandersteen A, Canham N, Rump P, Gerkes EH, Klein Wassink-Ruiter JS, Bijlsma E, Hoffer MJV, Vargas M, Wojcik A, Cherik F, Francannet C, Rosenfeld JA, Machol K, Scott DA, Bacino CA, Wang X, Clark GD, Bertoli M, Zwolinski S, Thomas RH, Akay E, Chang RC, Bressi R, Sanchez Russo R, Srour M, Russell L, Goyette AE, Dupuis L, Mendoza-Londono R, Karimov C, Joseph M, Nizon M, Cogné B, Kuechler A, Piton A, Deciphering Developmental Disorder Study, Klee EW, Lefebvre V, Clark KJ, Depienne C

Genetics in medicine : official journal of the American College of Medical Genetics202042 citationsOpen Access

DOI: 10.1038/s41436-019-0657-0 PMID: 31578471

RARS1-related hypomyelinating leukodystrophy: Expanding the spectrum.

Mendes MI, Green LMC, Bertini E, Tonduti D, Aiello C, Smith D, Salsano E, Beerepoot S, Hertecant J, von Spiczak S, Livingston JH, Emrick L, Fraser J, Russell L, Bernard G, Magri S, Di Bella D, Taroni F, Koenig MK, Moroni I, Cappuccio G, Brunetti-Pierri N, Rhee J, Mendelsohn BA, Helbig I, Helbig K, Muhle H, Ismayl O, Vanderver AL, Salomons GS, van der Knaap MS, Wolf NI

Annals of clinical and translational neurology202032 citationsOpen Access

DOI: 10.1002/acn3.50960 PMID: 31814314

Diagnostic Yield of Intellectual Disability Gene Panels.

Pekeles H, Accogli A, Boudrahem-Addour N, Russell L, Parente F, Srour M

Pediatric neurology201941 citations

DOI: 10.1016/j.pediatrneurol.2018.11.005 PMID: 30581057

Pathogenic variants in AIMP1 cause pontocerebellar hypoplasia.

Accogli A, Russell L, Sébire G, Rivière JB, St-Onge J, Addour-Boudrahem N, Laporte AD, Rouleau GA, Saint-Martin C, Srour M

Neurogenetics201920 citations

DOI: 10.1007/s10048-019-00572-7 PMID: 30924036

Maternally inherited MAF variant associated with variable expression of Aymé‐Gripp syndrome

Ebba Alkhunaizi, Robert K. Koenekoop, Christine Saint‐Martin, Laura Russell

American Journal of Medical Genetics Part A201914 citationsSenior author

DOI: 10.1002/ajmg.a.61299 PMID: 31390148

Genotype-Phenotype Correlation in NF1: Evidence for a More Severe Phenotype Associated with Missense Mutations Affecting NF1 Codons 844-848.

Koczkowska M, Chen Y, Callens T, Gomes A, Sharp A, Johnson S, Hsiao MC, Chen Z, Balasubramanian M, Barnett CP, Becker TA, Ben-Shachar S, Bertola DR, Blakeley JO, Burkitt-Wright EMM, Callaway A, Crenshaw M, Cunha KS, Cunningham M, D'Agostino MD, Dahan K, De Luca A, Destrée A, Dhamija R, Eoli M, Evans DGR, Galvin-Parton P, George-Abraham JK, Gripp KW, Guevara-Campos J, Hanchard NA, Hernández-Chico C, Immken L, Janssens S, Jones KJ, Keena BA, Kochhar A, Liebelt J, Martir-Negron A, Mahoney MJ, Maystadt I, McDougall C, McEntagart M, Mendelsohn N, Miller DT, Mortier G, Morton J, Pappas J, Plotkin SR, Pond D, Rosenbaum K, Rubin K, Russell L, Rutledge LS, Saletti V, Schonberg R, Schreiber A, Seidel M, Siqveland E, Stockton DW, Trevisson E, Ullrich NJ, Upadhyaya M, van Minkelen R, Verhelst H, Wallace MR, Yap YS, Zackai E, Zonana J, Zurcher V, Claes K, Martin Y, Korf BR, Legius E, Messiaen LM

American journal of human genetics2018

DOI: 10.1016/j.ajhg.2017.12.001 PMID: 29290338

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

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Laura Russell

Research

Latest papers

Shashi-Pena syndrome with late-onset specific hypogammaglobinaemia and autoimmune cytopenia.

Expanding PIGM‐related disorders to coding mutations

Biallelic variants in TUBGCP6 result in microcephaly and chorioretinopathy 1: Report of four cases and a literature review.

Isolated bilateral congenital lacrimal gland agenesis-a case series.

Widening of the genetic and clinical spectrum of Lamb-Shaffer syndrome, a neurodevelopmental disorder due to SOX5 haploinsufficiency.

RARS1-related hypomyelinating leukodystrophy: Expanding the spectrum.

Diagnostic Yield of Intellectual Disability Gene Panels.

Pathogenic variants in AIMP1 cause pontocerebellar hypoplasia.

Maternally inherited MAF variant associated with variable expression of Aymé‐Gripp syndrome

Genotype-Phenotype Correlation in NF1: Evidence for a More Severe Phenotype Associated with Missense Mutations Affecting NF1 Codons 844-848.

Frequent collaborators

Myriam Srour

Ebba Alkhunaizi

Andrea Accogli

Francisco Noya

Roberto Mendoza-Londono

Geneviève Bernard

David Chitayat

Guy Rouleau

Philippe Campeau

Jacek Majewski

David Rosenblatt

Robert Koenekoop

Maryam Oskoui

Guillaume Sebire

Gabrielle Freire

Bruce Mazer

Jennifer Fitzpatrick

Nancy Braverman