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R. Lamont · SciRah

Researcher profile · Semantic Scholar

R. Lamont

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R. Lamont — researcher profile on SciRah

h-index: 21
Works: 47
Citations: 1,727

Most-cited papers

An siRNA-based functional genomics screen for the identification of regulators of ciliogenesis and ciliopathy genes
G. Wheway, M. Schmidts, D. A. Mans, K. Szymanska +72 more
2015Nature Cell Biology240 citations Open access
Semantic Scholar
Mutations in sphingosine-1-phosphate lyase cause nephrosis with ichthyosis and adrenal insufficiency
S. Lovric, S. Gonçalves, H. Gee, B. Oskouian +61 more
2017Journal of Clinical Investigation159 citations Open access
Semantic Scholar
A peroxisomal disorder of severe intellectual disability, epilepsy, and cataracts due to fatty acyl-CoA reductase 1 deficiency.
R. Buchert, Hasan Tawamie, Christopher Smith, S. Uebe +9 more
2014American Journal of Human Genetics126 citations Open access
Semantic Scholar
Mutation of a gene essential for ribosome biogenesis, EMG1, causes Bowen-Conradi syndrome.
J. Armistead, Sunita Khatkar, B. Meyer, B. Mark +12 more
2009American Journal of Human Genetics126 citations Open access
Semantic Scholar
Recessive TRAPPC11 mutations cause a disease spectrum of limb girdle muscular dystrophy and myopathy with movement disorder and intellectual disability.
N. Bögershausen, Nassim Shahrzad, Jessica X. Chong, J. von Kleist-Retzow +30 more
2013American Journal of Human Genetics108 citations Open access
Semantic Scholar
Mutations in LAMA1 cause cerebellar dysplasia and cysts with and without retinal dystrophy.
K. Aldinger, S. Mosca, M. Tétreault, J. Dempsey +15 more
2014American Journal of Human Genetics103 citations Open access
Semantic Scholar
The most common mutation in FKRP causing limb girdle muscular dystrophy type 2I (LGMD2I) may have occurred only once and is present in Hutterites and other populations
P. Frosk, C. Greenberg, Alysa A. P. Tennese, R. Lamont +12 more
2005Human Mutation83 citations
Semantic Scholar
Disrupted auto-regulation of the spliceosomal gene SNRPB causes cerebro–costo–mandibular syndrome
Danielle C Lynch, T. Revil, J. Schwartzentruber, E. Bhoj +15 more
2014Nature Communications73 citations Open access
Semantic Scholar
MAPping Out Arteries and Veins
R. Lamont, S. Childs
2006Science's STKE61 citations
Semantic Scholar
PISD is a mitochondrial disease gene causing skeletal dysplasia, cataracts, and white matter changes
Tian Zhao, Caitlin Goedhart, Pingdewinde N. Sam, R. Sabouny +10 more
2018Life Science Alliance60 citations Open access
Semantic Scholar
Human blood group genes 2004: chromosomal locations and cloning strategies.
L. Lögdberg, M. Reid, R. Lamont, T. Zelinski
2005Transfusion Medicine Reviews56 citations
Semantic Scholar
Antagonistic interactions among Plexins regulate the timing of intersegmental vessel formation.
R. Lamont, Erica J Lamont, S. Childs
2009Developmental Biology48 citations Open access
Semantic Scholar
RTTN Mutations Cause Primary Microcephaly and Primordial Dwarfism in Humans.
H. Shamseldin, A. Alazami, M. Manning, A. Hashem +10 more
2015American Journal of Human Genetics45 citations Open access
Semantic Scholar
Expansion of phenotype and genotypic data in CRB2-related syndrome
R. Lamont, W. Tan, A. Innes, J. Parboosingh +16 more
2016European Journal of Human Genetics43 citations Open access
Semantic Scholar
Biallelic sequence variants in INTS1 in patients with developmental delays, cataracts, and craniofacial anomalies
M. Krall, S. Htun, R. Schnur, A. Brooks +8 more
2019European Journal of Human Genetics42 citations Open access
Semantic Scholar
Hedgehog signaling via angiopoietin1 is required for developmental vascular stability.
R. Lamont, Wendy Vu, Alyson D. Carter, F. Serluca +2 more
2010Mechanisms of Development42 citations Open access
Semantic Scholar
Data sharing as a national quality improvement program: reporting on BRCA1 and BRCA2 variant-interpretation comparisons through the Canadian Open Genetics Repository (COGR)
Matthew S. Lebo, Kathleen-Rose Zakoor, Kathy Chun, M. Speevak +21 more
2017Genetics in Medicine31 citations Open access
Semantic Scholar
Data sharing to improve concordance in variant interpretation across laboratories: results from the Canadian Open Genetics Repository
Chloe E. Mighton, Amanda C. Smith, Justin G. Mayers, R. Tomaszewski +29 more
2021Journal of Medical Genetics30 citations Open access
Semantic Scholar
An Algorithm Measuring Donor Cell-Free DNA in Plasma of Cellular and Solid Organ Transplant Recipients That Does Not Require Donor or Recipient Genotyping
Paul Gordon, Aneal Khan, U. Sajid, N. Chang +10 more
2016Frontiers in Cardiovascular Medicine30 citations Open access
Semantic Scholar
Biallelic CACNA2D2 variants in epileptic encephalopathy and cerebellar atrophy
J. Punetha, E. Karaca, A. Gezdirici, R. Lamont +11 more
2019Annals of Clinical and Translational Neurology29 citations Open access
Semantic Scholar
Expression of multiple class three semaphorins in the retina and along the path of zebrafish retinal axons
Davon C. Callander, R. Lamont, S. Childs, S. McFarlane
200725 citations
Semantic Scholar
Is PNPT1‐related hearing loss ever non‐syndromic? Whole exome sequencing of adult siblings expands the natural history of PNPT1‐related disorders
Alison J. Eaton, F. Bernier, Caitlin Goedhart, O. Caluseriu +4 more
2018American Journal of Medical Genetics. Part A20 citations
Semantic Scholar
Comparative analysis of genes regulated by Dzip1/iguana and hedgehog in zebrafish
Corey R. Arnold, R. Lamont, John T. Walker, Peter J. Spice +3 more
2015Developmental Dynamics19 citations Open access
Semantic Scholar
The LIM-homeodomain transcription factor Islet2a promotes angioblast migration.
R. Lamont, Changjing Wu, J. Ryu, Wendy Vu +5 more
2016Developmental Biology15 citations Open access
Semantic Scholar
Neuronal expression of class 6 semaphorins in zebrafish.
A. Ebert, R. Lamont, S. Childs, Sarah McFarlane
2012Gene Expression Patterns15 citations
Semantic Scholar
The Alberta Newborn Screening Approach for Sickle Cell Disease: The Advantages of Molecular Testing
Janet R Zhou, R. Ridsdale, L. MacNeil, M. Lilley +10 more
2021International Journal of Neonatal Screening14 citations Open access
Semantic Scholar
Biallelic variants in ribonuclease inhibitor (RNH1), an inflammasome modulator, are associated with a distinctive subtype of acute, necrotizing encephalopathy
V. Shashi, K. Schoch, R. Ganetzky, P. Kranz +23 more
2023Genetics in Medicine13 citations Open access
Semantic Scholar
A locus for Bowen–Conradi syndrome maps to chromosome region 12p13.3
R. Lamont, J. Loredo-Osti, N. Roslin, Jill Mauthe +12 more
2005American Journal of Medical Genetics. Part A13 citations
Semantic Scholar
Hnrnpul1 controls transcription, splicing, and modulates skeletal and limb development in vivo
Danielle L. Blackwell, S. Fraser, O. Caluseriu, Claudia Vivori +7 more
2020bioRxiv12 citations Open access
Semantic Scholar
A relatively mild skeletal ciliopathy phenotype consistent with cranioectodermal dysplasia is associated with a homozygous nonsynonymous mutation in WDR35
Christopher Smith, R. Lamont, A. Wade, F. P. Bernier +2 more
2016American Journal of Medical Genetics. Part A12 citations
Semantic Scholar
When to think outside the autozygome: Best practices for exome sequencing in “consanguineous” families
Alison J. Eaton, T. Hartley, K. Kernohan, Yoko A. Ito +6 more
2020Clinical Genetics10 citations
Semantic Scholar
De novo variants in MPP5 cause global developmental delay and behavioral changes.
Noelle A. Sterling, A. R. Duncan, Raehee Park, D. Koolen +17 more
2020Human Molecular Genetics10 citations Open access
Semantic Scholar
The hutterite variant of treacher collins syndrome: A 28‐year‐old story solved
O. Caluseriu, Brian R. Lowry, R. McLeod, R. Lamont +3 more
2013American Journal of Medical Genetics. Part A9 citations
Semantic Scholar
Next-Generation Sequencing Using a Cardiac Gene Panel in Prenatally Diagnosed Cardiac Anomalies.
R. Lamont, Y. Xi, Claire Popko, J. Lazier +5 more
2018Journal of Obstetrics and Gynaecology Canada3 citations
Semantic Scholar
Patterns and phenotypes: Expression of multiple class three semaphorins in the retina and along the path of zebrafish retinal axons
Davon C. Callander, R. Lamont, S. Childs, S. McFarlane
2008Developmental Dynamics3 citations Open access
Semantic Scholar
Two De Novo Mutations in an Autistic Child Who Had Previously Undergone Transplantation for Dilated Cardiomyopathy: The Importance of Keeping an Open Mind.
U. Sajid, B. Argiropoulos, Xing C. Wei, J. Parboosingh +3 more
2017Canadian Journal of Cardiology2 citations
Semantic Scholar
Identification of an additional deep intronic splice variant prompts critical evaluation of SPG7 inheritance
E. Gillesse, M. Wan, S. Ashtiani, O. Suchowersky +5 more
2026Neurogenetics1 citations Open access
Semantic Scholar
Genome Sequencing Readily Detects a Copy Number Variant in FBN1 in a Patient with Marfan Syndrome
Francesca Jean, A. Stuart, Julien Marcadier, F. P. Bernier +1 more
2026CJC Open0 citations Open access
Semantic Scholar
Mutations in sphingosine-1-phosphate lyase cause nephrosis with ichthyosis and adrenal insufficiency
S. Lovric, S. Gonçalves, H. Gee, Babak Oskouian +61 more
20170 citations
Semantic Scholar
Response to correspondence of NDUFS4‐related Leigh syndrome in Hutterites
R. Lamont, C. Beaulieu, F. Bernier, R. Sparkes +5 more
2017American Journal of Medical Genetics. Part A0 citations
Semantic Scholar
MG-126 A de novo truncating mutation in the chromatin remodeler chd8 in a patient with autism, macrocephaly and overgrowth
P. Au, Christopher Smith, R. Lamont, H. Racher +3 more
20150 citations
Semantic Scholar
MG-125 CYP21A2 mutation spectrum in congenital adrenal hyperplasia identified from molecular genetic testing
Y. Xi, J. Parboosingh, H. Johnson, Lisa Graham +1 more
20150 citations
Semantic Scholar
A Novel Non-Invasive Assay for the Detection of Rejection Using Cell-Free DNA
Paul Gordon, N. Chang, U. Sajid, V. Suresh +6 more
20150 citations
Semantic Scholar
Motoneurons influence angiogenesis in the developing zebrafish via class 3 semaphorins
R. Lamont, S. Childs
20070 citations Open access
Semantic Scholar
[P246]: Expression patterns of semaphorin 3s at key decision points in the optic pathway indicate they may direct the growth of zebrafish retinal ganglion cell axons
Davon C. Callander, R. Lamont, S. Childs, Sarah McFarlane
20060 citations
Semantic Scholar
[P94]: Class 3 semaphorins expressed in motoneurons influence angiogenesis in the developing zebrafish
R. Lamont, S. Childs
20060 citations
Semantic Scholar
A common founder mutation in FKRP causes limb girdle muscular dystrophy type 21 (LGMD21) in both Hutterite and European populations
P. Frosk, C. Greenberg, A. Poulin, R. Lamont +9 more
20030 citations
Semantic Scholar

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