Skip to content

Home Search Authors Pakistan News Saved

SciRah

SciRah does not host or store research papers. Results come live from free, official scholarly APIs, and every paper links back to its original source.

Data sources

OpenAlex
Semantic Scholar
Crossref
CORE
arXiv
PubMed

Privacy policy Terms of service

M. Samuels · SciRah

Researcher profile · Semantic Scholar

M. Samuels

Share profile

M. Samuels — researcher profile on SciRah

h-index: 40
Works: 91
Citations: 6,014

Most-cited papers

Mutant frizzled-4 disrupts retinal angiogenesis in familial exudative vitreoretinopathy
J. Robitaille, Marcia L. E. MacDonald, A. Kaykas, L. C. Sheldahl +15 more
2002Nature Genetics482 citations
Semantic Scholar
De novo mutations in the gene encoding the synaptic scaffolding protein SHANK3 in patients ascertained for schizophrenia
J. Gauthier, N. Champagne, R. Lafrenière, L. Xiong +25 more
2010Proceedings of the National Academy of Sciences of the United States of America388 citations Open access
Semantic Scholar
Utility of whole‐exome sequencing for those near the end of the diagnostic odyssey: time to address gaps in care
S. Sawyer, T. Hartley, D. Dyment, C. Beaulieu +41 more
2015Clinical Genetics380 citations Open access
Semantic Scholar
A mutation in PCSK9 causing autosomal-dominant hypercholesterolemia in a Utah pedigree
K. Timms, S. Wagner, M. Samuels, Kristian C. Forbey +6 more
2004Human Genetics328 citations
Semantic Scholar
An international effort towards developing standards for best practices in analysis, interpretation and reporting of clinical genome sequencing results in the CLARITY Challenge
C. Brownstein, A. Beggs, N. Homer, Barry Merriman +194 more
2014Genome Biology308 citations Open access
Semantic Scholar
FORGE Canada Consortium: outcomes of a 2-year national rare-disease gene-discovery project.
C. Beaulieu, J. Majewski, J. Schwartzentruber, M. Samuels +19 more
2014American Journal of Human Genetics253 citations Open access
Semantic Scholar
Mutations in mitochondrial carrier family gene SLC25A38 cause nonsyndromic autosomal recessive congenital sideroblastic anemia
D. Guernsey, Haiyan Jiang, D. Campagna, S. Evans +15 more
2009Nature Genetics237 citations
Semantic Scholar
Mutations in centrosomal protein CEP152 in primary microcephaly families linked to MCPH4.
D. Guernsey, Haiyan Jiang, J. Hussin, Marc Arnold +20 more
2010American Journal of Human Genetics211 citations Open access
Semantic Scholar
Mutations in origin recognition complex gene ORC4 cause Meier-Gorlin syndrome
D. Guernsey, M. Matsuoka, Haiyan Jiang, S. Evans +19 more
2011Nature Genetics184 citations
Semantic Scholar
Recessive TTN truncating mutations define novel forms of core myopathy with heart disease.
C. Chauveau, C. Bonnemann, C. Julien, A. L. Kho +20 more
2014Human Molecular Genetics176 citations Open access
Semantic Scholar
Identification of a novel gene (HSN2) causing hereditary sensory and autonomic neuropathy type II through the Study of Canadian Genetic Isolates.
R. Lafrenière, Marcia L. E. MacDonald, Marie-Pierre Dubé, J. MacFarlane +22 more
2004American Journal of Human Genetics158 citations Open access
Semantic Scholar
Deficiency of asparagine synthetase causes congenital microcephaly and a progressive form of encephalopathy
E. Ruzzo, Jose-Mario Capo-Chichi, B. Ben-Zeev, D. Chitayat +40 more
2013Neuron157 citations Open access
Semantic Scholar
Exome sequencing identifies mutations in the gene TTC7A in French-Canadian cases with hereditary multiple intestinal atresia
M. Samuels, J. Majewski, N. Alirezaie, Isabel Fernández +16 more
2013Journal of Medical Genetics143 citations Open access
Semantic Scholar
Mutations in C5ORF42 cause Joubert syndrome in the French Canadian population.
M. Srour, J. Schwartzentruber, F. Hamdan, L. Ospina +15 more
2012American Journal of Human Genetics139 citations Open access
Semantic Scholar
Mutations in the UBIAD1 Gene, Encoding a Potential Prenyltransferase, Are Causal for Schnyder Crystalline Corneal Dystrophy
A. Orr, Marie-Pierre Dubé, Julien Marcadier, Haiyan Jiang +13 more
2007PLoS ONE116 citations Open access
Semantic Scholar
Genetic localization to chromosome 1p32 of the third locus for familial hypercholesterolemia in a Utah kindred.
S. Hunt, P. Hopkins, K. Bulka, M. Mcdermott +6 more
2000Arteriosclerosis, Thrombosis and Vascular Biology115 citations Open access
Semantic Scholar
Mutations in the nervous system--specific HSN2 exon of WNK1 cause hereditary sensory neuropathy type II.
M. Shekarabi, N. Girard, J. Rivière, P. Dion +10 more
2008Journal of Clinical Investigation114 citations Open access
Semantic Scholar
Mutations in NOTCH2 in families with Hajdu‐Cheney syndrome
J. Majewski, J. Schwartzentruber, Aurore Caqueret, L. Patry +9 more
2011Human Mutation113 citations
Semantic Scholar
Meier–Gorlin syndrome genotype–phenotype studies: 35 individuals with pre-replication complex gene mutations and 10 without molecular diagnosis
S. de Munnik, L. Bicknell, S. Aftimos, J. Al-Aama +30 more
2012European Journal of Human Genetics111 citations Open access
Semantic Scholar
A homozygous loss-of-function variant in MYH11 in a case with megacystis-microcolon-intestinal hypoperistalsis syndrome
J. Gauthier, Bouchra Ouled Amar Bencheikh, F. Hamdan, S. Harrison +9 more
2014European Journal of Human Genetics94 citations Open access
Semantic Scholar
Mutation in pyrroline-5-carboxylate reductase 1 gene in families with cutis laxa type 2.
D. Guernsey, Haiyan Jiang, S. Evans, M. Ferguson +9 more
2009American Journal of Human Genetics94 citations Open access
Semantic Scholar
Human monogenic disorders — a source of novel drug targets
R. Brinkman, Marie-Pierre Dubé, G. Rouleau, A. Orr +1 more
2006Nature reviews genetics92 citations
Semantic Scholar
Mutation in The Nuclear‐Encoded Mitochondrial Isoleucyl–tRNA Synthetase IARS2 in Patients with Cataracts, Growth Hormone Deficiency with Short Stature, Partial Sensorineural Deafness, and Peripheral Neuropathy or with Leigh Syndrome
J. Schwartzentruber, D. Buhas, J. Majewski, F. Sasarman +14 more
2014Human Mutation86 citations
Semantic Scholar
Mutations in NFKB2 and potential genetic heterogeneity in patients with DAVID syndrome, having variable endocrine and immune deficiencies
T. Brue, M. Quentien, Konstantin Khetchoumian, Marco Bensa +16 more
2014BMC Medical Genetics84 citations Open access
Semantic Scholar
Lethal Disorder of Mitochondrial Fission Caused by Mutations in DNM1L.
G. Yoon, Z. Malam, T. Paton, C. Marshall +14 more
2016Jornal de Pediatria78 citations
Semantic Scholar
Mutation in the Gene Encoding Ubiquitin Ligase LRSAM1 in Patients with Charcot-Marie-Tooth Disease
D. Guernsey, Haiyan Jiang, K. Bedard, S. Evans +11 more
2010PLoS Genetics69 citations Open access
Semantic Scholar
Family Based Whole Exome Sequencing Reveals the Multifaceted Role of Notch Signaling in Congenital Heart Disease
Christoph Preuss, M. Capredon, F. Wünnemann, P. Chetaille +10 more
2016PLoS Genetics65 citations Open access
Semantic Scholar
Germline Mutations in MAP3K6 Are Associated with Familial Gastric Cancer
D. Gaston, Samantha E. Hansford, C. Oliveira, M. Nightingale +22 more
2014PLoS Genetics65 citations Open access
Semantic Scholar
Phenotypic Overlap of Familial Exudative Vitreoretinopathy (FEVR) with Persistent Fetal Vasculature (PFV) Caused by FZD4 Mutations in two Distinct Pedigrees
J. Robitaille, K. Wallace, B. Zheng, M. Beis +3 more
2009Ophthalmic Genetics65 citations
Semantic Scholar
Loss of the E3 ubiquitin ligase LRSAM1 sensitizes peripheral axons to degeneration in a mouse model of Charcot-Marie-Tooth disease
L. Bogdanik, J. N. Sleigh, C. Tian, M. Samuels +3 more
2013Disease Models & Mechanisms56 citations Open access
Semantic Scholar
Mutations in a novel serine protease PRSS56 in families with nanophthalmos
A. Orr, Marie-Pierre Dubé, J. Zenteno, Haiyan Jiang +15 more
2011Molecular Vision54 citations
Semantic Scholar
Evidence of linkage of familial hypoalphalipoproteinemia to a novel locus on chromosome 11q23.
E. Kort, Dennis G. Ballinger, W. Ding, S. Hunt +15 more
2000American Journal of Human Genetics54 citations Open access
Semantic Scholar
Evolution of the patellar sesamoid bone in mammals
M. Samuels, S. Regnault, J. Hutchinson
2017PeerJ53 citations Open access
Semantic Scholar
Meier–Gorlin syndrome: Growth and secondary sexual development of a microcephalic primordial dwarfism disorder
S. de Munnik, B. Otten, Jeroen Schoots, L. Bicknell +34 more
2012American Journal of Medical Genetics. Part A53 citations Open access
Semantic Scholar
Disruption of TBC1D7, a subunit of the TSC1-TSC2 protein complex, in intellectual disability and megalencephaly
Jose-Mario Capo-Chichi, J. Tcherkezian, F. Hamdan, J. Décarie +12 more
2013Journal of Medical Genetics51 citations
Semantic Scholar
Activities of the Sex-lethal protein in RNA binding and protein:protein interactions.
M. Samuels, Girish Deshpande, P. Schedl
1998Nucleic Acids Research49 citations Open access
Semantic Scholar
Disruption of CLPB is associated with congenital microcephaly, severe encephalopathy and 3-methylglutaconic aciduria
Jose-Mario Capo-Chichi, S. Boissel, E. Brustein, Sarah R Pickles +12 more
2015Journal of Medical Genetics47 citations
Semantic Scholar
Bioinactive ACTH causing glucocorticoid deficiency.
M. Samuels, N. Gallo-Payet, Sandra Pinard, C. Hasselmann +15 more
2013Journal of Clinical Endocrinology and Metabolism47 citations
Semantic Scholar
A genome scan for loci influencing anti-atherogenic serum bilirubin levels
F. Kronenberg, H. Coon, A. Gutin, V. Abkevich +4 more
2002European Journal of Human Genetics46 citations
Semantic Scholar
Functional zebrafish studies based on human genotyping point to netrin-1 as a link between aberrant cardiovascular development and thyroid dysgenesis.
R. Opitz, M. Hitz, Isabelle Vandernoot, A. Trubiroha +6 more
2015Endocrinology44 citations Open access
Semantic Scholar
Genetic Mosaics and the Germ Line Lineage
M. Samuels, J. Friedman
2015Genes38 citations Open access
Semantic Scholar
A mutation in the RNF170 gene causes autosomal dominant sensory ataxia.
P. Valdmanis, N. Dupré, Mathieu Lachance, Shawn J. Stochmanski +8 more
2011Brain : a journal of neurology38 citations
Semantic Scholar
A generalizable pre-clinical research approach for orphan disease therapy
C. Beaulieu, M. Samuels, S. Ekins, C. McMaster +6 more
2012Orphanet Journal of Rare Diseases35 citations Open access
Semantic Scholar
Müller Cell-Localized GPR81 (HCA1) Regulates Inner Retinal Vasculature via Norrin/Wnt Pathways.
Ankush Madaan, Prabhas Chaudhari, Mathieu Nadeau-Vallée, D. Hamel +10 more
2019American Journal of Pathology34 citations Open access
Semantic Scholar
A Point Mutation in a lincRNA Upstream of GDNF Is Associated to a Canine Insensitivity to Pain: A Spontaneous Model for Human Sensory Neuropathies
J. Plassais, L. Lagoutte, S. Correard, M. Paradis +17 more
2016PLoS Genetics34 citations Open access
Semantic Scholar
Hajdu–Cheney syndrome: phenotypical progression with de-novo NOTCH2 mutation
M. Descartes, K. Rojnueangnit, Laura Cole, Amelia L M Sutton +3 more
2014Clinical Dysmorphology32 citations
Semantic Scholar
Somatic Mutations Are Not Observed by Exome Sequencing of Lymphocyte DNA from Monozygotic Twins Discordant for Congenital Hypothyroidism due to Thyroid Dysgenesis
F. Magne, R. Serpa, G. Van Vliet, M. Samuels +1 more
2014Hormone Research in Paediatrics31 citations Open access
Semantic Scholar
Definition of an Inflammatory Biomarker Signature in Plasma-Derived Extracellular Vesicles of Glioblastoma Patients
C. Cilibrasi, Thomas Simon, M. Vintu, Christos Tolias +6 more
2022Biomedicines30 citations Open access
Semantic Scholar
A novel rearrangement of occludin causes brain calcification and renal dysfunction
Marissa A. LeBlanc, L. Penney, D. Gaston, Yuhao Shi +14 more
2013Human Genetics27 citations
Semantic Scholar
The case for locus-specific databases
M. Samuels, G. Rouleau
2011Nature reviews genetics24 citations
Semantic Scholar

Frequent co-authors

Invite them to SciRah by sharing their profile.

G. Rouleau×11
Invite
G. Rouleau — researcher profile on SciRah
J. Michaud×11
Invite
J. Michaud — researcher profile on SciRah
L. Patry×11
Invite
L. Patry — researcher profile on SciRah
J. Majewski×10
Invite
J. Majewski — researcher profile on SciRah

×10

Invite

A. Orr — researcher profile on SciRah

Invite

D. Guernsey — researcher profile on SciRah

J. Schwartzentruber×8

Invite

J. Schwartzentruber — researcher profile on SciRah

Haiyan Jiang×8

Invite

Haiyan Jiang — researcher profile on SciRah

M. Nightingale×8

Invite

M. Nightingale — researcher profile on SciRah

Marie-Pierre Dubé×7

Invite

Marie-Pierre Dubé — researcher profile on SciRah

Invite

K. Boycott — researcher profile on SciRah

Invite

S. Evans — researcher profile on SciRah