Research
Read how they describe their research on their Université de Montréal profile.
Latest papers
Autosomal dominant ApoA4 mutations present as tubulointerstitial kidney disease with medullary amyloidosis.
Kidney international · 2024
Bone Structural Characteristics and Response to Bisphosphonate Treatment in Children With Hajdu-Cheney Syndrome.
The Journal of clinical endocrinology and metabolism · 2017
A Point Mutation in a lincRNA Upstream of GDNF Is Associated to a Canine Insensitivity to Pain: A Spontaneous Model for Human Sensory Neuropathies.
PLoS genetics · 2016
Latest funding
- $337,338
Genetic Determinants of Congenital Hypothyroidism
CIHR · 2013 · Co-investigator
- $359,993
Identification of autosomal recessive mutations associated with developmental abnormalities through next-generation resequencing
CIHR · 2010 · Principal investigator
- $1,225,000
Finding of Rare Disease Genes in Canada (FORGE CANADA)
CIHR · 2010 · Co-investigator
4 publications.
Autosomal dominant ApoA4 mutations present as tubulointerstitial kidney disease with medullary amyloidosis.
Kmochová T, Kidd KO, Orr A, Hnízda A, Hartmannová H, Hodaňová K, Vyleťal P, Naušová K, Brinsa V, Trešlová H, Sovová J, Barešová V, Svojšová K, Vrbacká A, Stránecký V, Robins VC, Taylor A, Martin L, Rivas-Chavez A, Payne R, Bleyer HA, Williams A, Rennke HG, Weins A, Short PJ, Agrawal V, Storsley LJ, Waikar SS, McPhail ED, Dasari S, Leung N, Hewlett T, Yorke J, Gaston D, Geldenhuys L, Samuels M, Levine AP, West M, Hůlková H, Pompach P, Novák P, Weinberg RB, Bedard K, Živná M, Sikora J, Bleyer AJ, Kmoch S
Bone Structural Characteristics and Response to Bisphosphonate Treatment in Children With Hajdu-Cheney Syndrome.
Sakka S, Gafni RI, Davies JH, Clarke B, Tebben P, Samuels M, Saraff V, Klaushofer K, Fratzl-Zelman N, Roschger P, Rauch F, Högler W
A Point Mutation in a lincRNA Upstream of GDNF Is Associated to a Canine Insensitivity to Pain: A Spontaneous Model for Human Sensory Neuropathies.
Plassais J, Lagoutte L, Correard S, Paradis M, Guaguère E, Hédan B, Pommier A, Botherel N, Cadiergues MC, Pilorge P, Silversides D, Bizot M, Samuels M, Arnan C, Johnson R, Hitte C, Salbert G, Méreau A, Quignon P, Derrien T, André C
Mutations in the nervous system–specific HSN2 exon of WNK1 cause hereditary sensory neuropathy type II
Masoud Shekarabi, Nathalie Girard, Jean‐Baptiste Rivière, Patrick A. Dion, Martin Houle, André Toulouse, Ronald G.A. Lafrenière, F. Vercauteren, Pascale Hince, Janet Laganière, Daniel L. Rochefort, Laurence Olivier Faivre, Mark E. Samuels, Guy Armand Rouleau
Genetic Determinants of Congenital Hypothyroidism
Principal investigators: Deladoey, Johnny Y
Keywords: Birth Defects; Child Health; Clinically Driven Experimental Design; Congenital Hypothyroidism; Developmental Biology; Genetics; Pediatrics
Identification of autosomal recessive mutations associated with developmental abnormalities through next-generation resequencing
Principal investigators: Michaud, Jacques L; Samuels, Mark E
Keywords: Bioinformatics; Developmental Genetics; Genetics Of Birth Defects; Genomics; Next-Generation Sequencing; Whole Genome Exome Capture
Finding of Rare Disease Genes in Canada (FORGE CANADA)
Principal investigators: Boycott, Kym M; Friedman, Jan M; Michaud, Jacques L
Keywords: Gene Identification; Mendelian Disorders; Rare Disease
From public funding decisions: CIHR since 2008, NSERC since 1991 and SSHRC since 1998 with their latest competition results, the Canada Foundation for Innovation, Genome Canada, the Canadian Space Agency, Canada Research Chairs, the Fonds de recherche du Québec, Ontario research funding, Michael Smith Health Research BC, the Canadian Cancer Society, Heart & Stroke and Brain Canada.
Frequent collaborators
- Guy Rouleau and Mark Samuels: 1 shared paper
- Frank Rauch and Mark Samuels: 1 shared paper
- Andrew Orr and Mark Samuels: 1 shared paper
- Mark Samuels and David Silversides: 1 shared paper
- Mark Samuels and Manon Paradis: 1 shared paper
- David Silversides and Manon Paradis: 1 shared paper
- Département de médecine
- Department of Ophthalmology & Visual Sciences
- Faculté de médecine vétérinaire - Département de biomédecine vétérinaire
- Pediatrics
- Department of Neurology and Neurosurgery
- Département de sciences cliniques
Co-authors at Université de Montréal, colored by department. Thicker lines mean more shared papers; select anyone to open their profile and their own map.
David Silversides
Faculté de médecine vétérinaire - Département de biomédecine vétérinaire
1 shared papers, latest 2016
Manon Paradis
Département de sciences cliniques
1 shared papers, latest 2016
Guy Rouleau
Department of Neurology and Neurosurgery
1 shared papers, latest 2008
Frank Rauch
Pediatrics
1 shared papers, latest 2017
Karen Bedard
Department of Pathology
1 shared papers, latest 2024
Andrew Orr
Department of Ophthalmology & Visual Sciences
1 shared papers, latest 2024
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Profile data last refreshed on September 29, 2026 from the university directory, publication records and public research funding records.