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J. Schwartzentruber · SciRah

Researcher profile · Semantic Scholar

J. Schwartzentruber

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J. Schwartzentruber — researcher profile on SciRah

h-index: 62
Works: 138
Citations: 19K

Most-cited papers

Recurrent somatic alterations of FGFR1 and NTRK2 in pilocytic astrocytoma
David T. W. Jones, B. Hutter, N. Jäger, A. Korshunov +71 more
2013Nature Genetics755 citations Open access
Semantic Scholar
Open Targets Genetics: systematic identification of trait-associated genes using large-scale genetics and functional genomics
M. Ghoussaini, E. Mountjoy, M. Carmona, Gareth Peat +31 more
2020Nucleic Acids Res.556 citations Open access
Semantic Scholar
An open approach to systematically prioritize causal variants and genes at all published human GWAS trait-associated loci
E. Mountjoy, Ellen M. Schmidt, M. Carmona, J. Schwartzentruber +15 more
2021Nature Genetics491 citations Open access
Semantic Scholar
Genome-wide meta-analysis, fine-mapping, and integrative prioritization implicate new Alzheimer’s disease risk genes
J. Schwartzentruber, Sarah E. Cooper, Jimmy Z. Liu, Inigo Barrio‐Hernandez +9 more
2021Nature Genetics464 citations Open access
Semantic Scholar
Open Targets Platform: supporting systematic drug–target identification and prioritisation
D. Ochoa, Andrew Hercules, M. Carmona, D. Suveges +28 more
2020Nucleic Acids Res.436 citations Open access
Semantic Scholar
Recurrent somatic mutations in ACVR1 in pediatric midline high-grade astrocytoma
A. Fontebasso, S. Papillon-Cavanagh, J. Schwartzentruber, H. Nikbakht +44 more
2014Nature Genetics418 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
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
Biallelic Mutations in BRCA1 Cause a New Fanconi Anemia Subtype
S. Sawyer, L. Tian, M. Kähkönen, J. Schwartzentruber +8 more
2014Cancer Discovery297 citations Open access
Semantic Scholar
Mutations in SETD2 and genes affecting histone H3K36 methylation target hemispheric high-grade gliomas
A. Fontebasso, J. Schwartzentruber, Dong-Anh Khuong-Quang, Xiao-Yang Liu +25 more
2013Acta Neuropathologica291 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 SYNGAP1 Cause Intellectual Disability, Autism, and a Specific Form of Epilepsy by Inducing Haploinsufficiency
Martin H. Berryer, F. Hamdan, Laura L. Klitten, R. Møller +23 more
2013Human Mutation248 citations
Semantic Scholar
Molecular and functional variation in iPSC-derived sensory neurons
J. Schwartzentruber, Stefanie Foskolou, H. Kilpinen, Julia Rodrigues +16 more
2017Nature Genetics220 citations Open access
Semantic Scholar
CTP synthase 1 deficiency in humans reveals its central role in lymphocyte proliferation
Emmanuel Martin, Noé Palmic, S. Sanquer, C. Lenoir +14 more
2014Nature214 citations Open access
Semantic Scholar
A map of transcriptional heterogeneity and regulatory variation in human microglia
Adam M. H. Young, N. Kumasaka, Fiona Calvert, Timothy R. Hammond +35 more
2019Nature Genetics187 citations Open access
Semantic Scholar
Fusion of TTYH1 with the C19MC microRNA cluster drives expression of a brain-specific DNMT3B isoform in the embryonal brain tumor ETMR
C. Kleinman, N. Gerges, S. Papillon-Cavanagh, P. Sin‐Chan +38 more
2013Nature Genetics181 citations Open access
Semantic Scholar
Mutations in FLNC are Associated with Familial Restrictive Cardiomyopathy
A. Brodehl, R. Ferrier, S. Hamilton, S. Greenway +9 more
2016Human Mutation178 citations Open access
Semantic Scholar
Whole-Genome Sequencing Coupled to Imputation Discovers Genetic Signals for Anthropometric Traits
I. Tachmazidou, Dániel Süveges, Josine L. Min, G. Ritchie +99 more
2017American Journal of Human Genetics164 citations Open access
Semantic Scholar
Whole-exome sequencing identifies Coronin-1A deficiency in 3 siblings with immunodeficiency and EBV-associated B-cell lymphoproliferation.
D. Moshous, Emmanuel Martin, W. Carpentier, A. Lim +15 more
2013Journal of Allergy and Clinical Immunology145 citations Open access
Semantic Scholar
De novo CCND2 mutations leading to stabilization of cyclin D2 cause megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome
G. Mirzaa, David A. Parry, A. Fry, K. A. Giamanco +29 more
2014Nature Genetics142 citations Open access
Semantic Scholar
Debunking Occam's razor: Diagnosing multiple genetic diseases in families by whole‐exome sequencing
T. Balci, T. Hartley, Y. Xi, D. Dyment +22 more
2017Clinical Genetics126 citations
Semantic Scholar
Mutations in STAMBP, encoding a deubiquitinating enzyme, cause Microcephaly-Capillary Malformation syndrome
Laura M McDonell, G. Mirzaa, Diana Alcantara, J. Schwartzentruber +26 more
2013Nature Genetics116 citations Open access
Semantic Scholar
Genome-wide meta-analysis, fine-mapping and integrative prioritization implicate new Alzheimer’s disease risk genes
J. Schwartzentruber, Sarah E. Cooper, Jimmy Z. Liu, Inigo Barrio‐Hernandez +9 more
2021Nature Genetics107 citations Open access
Semantic Scholar
Whole exome sequencing unravels disease‐causing genes in consanguineous families in Qatar
S. Fahiminiya, Mariam Almuriekhi, Z. Nawaz, A. Staffa +9 more
2014Clinical Genetics96 citations
Semantic Scholar
Whole‐exome sequencing broadens the phenotypic spectrum of rare pediatric epilepsy: a retrospective study
D. Dyment, M. Tétreault, C. Beaulieu, T. Hartley +12 more
2015Clinical Genetics94 citations
Semantic Scholar
Mutations in CSPP1, encoding a core centrosomal protein, cause a range of ciliopathy phenotypes in humans.
R. Shaheen, H. Shamseldin, C. Loucks, M. Seidahmed +18 more
2014American Journal of Human Genetics91 citations Open access
Semantic Scholar
A rare functional cardioprotective APOC3 variant has risen in frequency in distinct population isolates
I. Tachmazidou, G. Dedoussis, L. Southam, Aliki-Eleni Farmaki +18 more
2013Nature Communications89 citations Open access
Semantic Scholar
Whole genome sequencing and imputation in isolated populations identify genetic associations with medically-relevant complex traits
L. Southam, Arthur Gilly, Dániel Süveges, Aliki-Eleni Farmaki +9 more
2017Nature Communications88 citations Open access
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
Very low-depth whole-genome sequencing in complex trait association studies
Arthur Gilly, L. Southam, D. Suveges, K. Kuchenbaecker +13 more
2017bioRxiv81 citations Open access
Semantic Scholar
Mutations in the enzyme glutathione peroxidase 4 cause Sedaghatian-type spondylometaphyseal dysplasia
Amanda C. Smith, A. Mears, Ryan A. Bunker, Afsana Ahmed +9 more
2014Journal of Medical Genetics81 citations
Semantic Scholar
Network expansion of genetic associations defines a pleiotropy map of human cell biology
Inigo Barrio‐Hernandez, J. Schwartzentruber, A. Shrivastava, N. del-Toro +13 more
2021bioRxiv79 citations Open access
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
Joubert Syndrome in French Canadians and Identification of Mutations in CEP104.
M. Srour, F. Hamdan, D. McKnight, E. Davis +29 more
2015American Journal of Human Genetics72 citations Open access
Semantic Scholar
GeneMatcher Aids in the Identification of a New Malformation Syndrome with Intellectual Disability, Unique Facial Dysmorphisms, and Skeletal and Connective Tissue Abnormalities Caused by De Novo Variants in HNRNPK
P. Y. Billie Au, Jing You, O. Caluseriu, J. Schwartzentruber +8 more
2015Human Mutation69 citations Open access
Semantic Scholar
Homozygous nonsense mutation in SYNJ1 associated with intractable epilepsy and tau pathology.
D. Dyment, Amanda C. Smith, P. Humphreys, J. Schwartzentruber +6 more
2015Neurobiology of Aging68 citations
Semantic Scholar
Genome-wide association study of developmental dysplasia of the hip identifies an association with GDF5
K. Hatzikotoulas, A. Roposch, A. Wainwright, T. Theologis +30 more
2018Communications Biology64 citations Open access
Semantic Scholar
Congenital Visual Impairment and Progressive Microcephaly Due to Lysyl–Transfer Ribonucleic Acid (RNA) Synthetase (KARS) Mutations
H. McMillan, P. Humphreys, Amanda C. Smith, J. Schwartzentruber +6 more
2015Journal of Child Neurology60 citations
Semantic Scholar
CCDC88B is a novel regulator of maturation and effector functions of T cells during pathological inflammation
J. Kennedy, Nassima Fodil, S. Torre, S. E. Bongfen +11 more
2014Journal of Experimental Medicine57 citations Open access
Semantic Scholar
Evidence for clinical, genetic and biochemical variability in spinal muscular atrophy with progressive myoclonic epilepsy
D. Dyment, E. Sell, M. Vanstone, A. Smith +12 more
2014Clinical Genetics55 citations
Semantic Scholar
Intellectual disability associated with a homozygous missense mutation in THOC6
C. Beaulieu, Li-Jia Huang, A. M. Innes, M. Akimenko +12 more
2013Orphanet Journal of Rare Diseases55 citations Open access
Semantic Scholar
Mutations in ALDH6A1 encoding methylmalonate semialdehyde dehydrogenase are associated with dysmyelination and transient methylmalonic aciduria
Julien Marcadier, Amanda M Smith, D. Pohl, J. Schwartzentruber +9 more
2013Orphanet Journal of Rare Diseases53 citations Open access
Semantic Scholar
CYRI/FAM49B negatively regulates RAC1-driven cytoskeletal remodelling and protects against bacterial infection
K. Yuki, Hadir Marei, Evgenij Fiskin, Megan M. Eva +8 more
2019Nature Microbiology50 citations
Semantic Scholar
A novel multisystem disease associated with recessive mutations in the tyrosyl‐tRNA synthetase (YARS) gene
M. Nowaczyk, Li-Jia Huang, M. Tarnopolsky, J. Schwartzentruber +4 more
2017American Journal of Medical Genetics. Part A48 citations
Semantic Scholar
Compound heterozygous mutations in glycyl-tRNA synthetase are a proposed cause of systemic mitochondrial disease
H. McMillan, J. Schwartzentruber, Amanda M Smith, Suzie Lee +6 more
2014BMC Medical Genetics48 citations Open access
Semantic Scholar
Mapping interindividual dynamics of innate immune response at single-cell resolution
N. Kumasaka, Raghd Rostom, N. Huang, K. Polański +22 more
2021bioRxiv43 citations Open access
Semantic Scholar
Whole‐exome sequencing in an individual with severe global developmental delay and intractable epilepsy identifies a novel, de novo GRIN2A mutation
S. Venkateswaran, K. Myers, Amanda C. Smith, C. Beaulieu +5 more
2014Epilepsia43 citations
Semantic Scholar
An inherited immunoglobulin class-switch recombination deficiency associated with a defect in the INO80 chromatin remodeling complex
S. Kracker, M. Di Virgilio, J. Schwartzentruber, C. Cuenin +14 more
2015Journal of Allergy and Clinical Immunology41 citations Open access
Semantic Scholar
Histone H3 mutations in pediatric brain tumors.
Xiaoyang Liu, Troy A. McEachron, J. Schwartzentruber, Gang Wu
2014Cold Spring Harbor Perspectives in Biology39 citations Open access
Semantic Scholar

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