J. Schwartzentruber

发表

Fusion of TTYH1 with the C19MC microRNA cluster drives expression of a brain-specific DNMT3B isoform in the embryonal brain tumor ETMR

Nada Jabado, Maxime Caron, Jacek Majewski, 2013, Nature Genetics.

Open Targets Platform: supporting systematic drug–target identification and prioritisation

E. McDonagh, I. Dunham, M. Pignatelli, 2020, Nucleic Acids Res..

Molecular and functional variation in iPSC-derived sensory neurons

Daniel J. Gaffney, Alex Gutteridge, H. Kilpinen, 2017, bioRxiv.

Genome-wide meta-analysis, fine-mapping, and integrative prioritization identify new Alzheimer’s disease risk genes

Daniel J. Gaffney, Andrew R. Bassett, P. Beltrão, 2020 .

Driver mutations in histone H3.3 and chromatin remodelling genes in paediatric glioblastoma

David T. W. Jones, V. P. Collins, T. Rausch, 2012, Nature.

Hotspot mutations in H3F3A and IDH1 define distinct epigenetic and biological subgroups of glioblastoma.

David T. W. Jones, V. P. Collins, M. Wolter, 2012, Cancer cell.

FORGE Canada Consortium: outcomes of a 2-year national rare-disease gene-discovery project.

Steven J. M. Jones, S. Scherer, B. Fernandez, 2014, American journal of human genetics.

Mutations in NMNAT1 cause Leber congenital amaurosis and identify a new disease pathway for retinal degeneration

Colin A. Johnson, G. Mardon, G. Fishman, 2012, Nature Genetics.

Recurrent somatic mutations in ACVR1 in pediatric midline high-grade astrocytoma

Liliana Goumnerova, Nada Jabado, David T. W. Jones, 2014, Nature Genetics.

Mutations in the enzyme glutathione peroxidase 4 cause Sedaghatian-type spondylometaphyseal dysplasia

K. Boycott, D. Bulman, C. Beaulieu, 2014, Journal of Medical Genetics.

Mutations in NOTCH2 in families with Hajdu‐Cheney syndrome

Kym M Boycott, Jacek Majewski, Mark E Samuels, 2011, Human mutation.

Very low-depth whole-genome sequencing in complex trait association studies

E. Zeggini, G. Ritchie, P. Danecek, 2017, bioRxiv.

Frequent ATRX mutations and loss of expression in adult diffuse astrocytic tumors carrying IDH1/IDH2 and TP53 mutations

Andrey Korshunov, Nada Jabado, David T. W. Jones, 2012, Acta Neuropathologica.

Using molecular QTLs to identify cell types and causal variants for complex traits

J. Schwartzentruber, 2018 .

Molecular and functional variation in iPSC-derived sensory 1 neurons 2

Benn, Daniel J. Gaffney, H. Kilpinen, 2017 .

Novel inborn error of folate metabolism: identification by exome capture and sequencing of mutations in the MTHFD1 gene in a single proband

J. Ganesh, J. Orange, J. Majewski, 2011, Journal of Medical Genetics.

A rare functional cardioprotective APOC3 variant has risen in frequency in distinct population isolates

E. Zeggini, G. McVean, C. Tyler-Smith, 2013, Nature Communications.

Iron Refractory Iron Deficiency Anemia: Presentation With Hyperferritinemia and Response to Oral Iron Therapy

K. Finberg, J. Majewski, J. Schwartzentruber, 2013, Pediatrics.

Genome-wide association study of developmental dysplasia of the hip identifies an association with GDF5

E. Zeggini, K. Hatzikotoulas, A. Wainwright, 2018, Communications Biology.

Multi-ancestry Mendelian randomization of omics traits revealing drug targets of COVID-19 severity

I. Dunham, M. Ghoussaini, J. Schwartzentruber, 2022, eBioMedicine.

Bioinactive ACTH causing glucocorticoid deficiency.

J. Majewski, J. Schwartzentruber, C. Deal, 2013, The Journal of clinical endocrinology and metabolism.

Whole-Genome Sequencing Coupled to Imputation Discovers Genetic Signals for Anthropometric Traits

Jie Huang, Inês Barroso, Tom R. Gaunt, 2017, American journal of human genetics.

Specific combination of compound heterozygous mutations in 17β-hydroxysteroid dehydrogenase type 4 (HSD17B4) defines a new subtype of D-bifunctional protein deficiency

S. Ferdinandusse, R. Wanders, K. Boycott, 2012, Orphanet Journal of Rare Diseases.

Homozygous nonsense mutation in SYNJ1 associated with intractable epilepsy and tau pathology

K. Boycott, J. Woulfe, D. Bulman, 2015, Neurobiology of Aging.

CTP synthase 1 deficiency in humans reveals its central role in lymphocyte proliferation

A. Fischer, N. Taylor, C. Picard, 2014, Nature.

Expansion of the clinical phenotype of the distal 10q26.3 deletion syndrome to include ataxia and hyperemia of the hands and feet

K. Boycott, J. Majewski, J. Schwartzentruber, 2017, American journal of medical genetics. Part A.

A mutation in the TMEM65 gene results in mitochondrial myopathy with severe neurological manifestations

M. Tarnopolsky, J. Schwartzentruber, A. Saleem, 2017, European Journal of Human Genetics.

Whole exome sequencing identifies the TNNI3K gene as a cause of familial conduction system disease and congenital junctional ectopic tachycardia.

L. Aravind, K. Boycott, T. Hartley, 2015, International journal of cardiology.

A family segregating lethal neonatal coenzyme Q10 deficiency caused by mutations in COQ9

R. Rodenburg, K. Boycott, D. Bulman, 2018, Journal of inherited metabolic disease.

Genetic variants associated with psychiatric disorders are enriched at epigenetically active sites in lymphoid cells

E. Bullmore, M. Lynall, M. Stein, 2022, Nature Communications.

Biallelic Loss-of-Function Variants in AIMP1 Cause a Rare Neurodegenerative Disease

I. Thiffault, J. Majewski, S. Chénier, 2018, Journal of child neurology.

LIMS2 mutations are associated with a novel muscular dystrophy, severe cardiomyopathy and triangular tongues

Lijia Huang, K. Boycott, J. Woulfe, 2015, Clinical genetics.

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

K. McKernan, E. Shoubridge, F. Sasarman, 2014, Human mutation.

Histone H3 mutations in pediatric brain tumors.

Gang Wu, J. Schwartzentruber, T. McEachron, 2014, Cold Spring Harbor perspectives in biology.

Whole genome sequencing and imputation in isolated populations identify genetic associations with medically-relevant complex traits

Jeremy Schwartzentruber, Eleftheria Zeggini, Ioanna Tachmazidou, 2017, Nature Communications.

Histone H 3 Mutations in Pediatric Brain Tumors

Gang Wu, J. Schwartzentruber, T. McEachron, 2014 .

Evidence for clinical, genetic and biochemical variability in spinal muscular atrophy with progressive myoclonic epilepsy

E. Sell, D. Bulman, M. Vanstone, 2014, Clinical genetics.

Integrative analysis of GWAS and co-localisation data suggests novel genes associated with age-related multimorbidity

Clare E. West, Maria J. Falaguera, I. Dunham, 2022, medRxiv.

De novo germline and postzygotic mutations in AKT3, PIK3R2 and PIK3CA cause a spectrum of related megalencephaly syndromes

J. Shendure, B. O’Roak, C. Cytrynbaum, 2012, Nature Genetics.

Corrigendum: Driver mutations in histone H3.3 and chromatin remodelling genes in paediatric glioblastoma

David T. W. Jones, T. Rausch, G. Reifenberger, 2012, Nature.

Missense mutations in ITPR1 cause autosomal dominant congenital nonprogressive spinocerebellar ataxia

Lijia Huang, K. Boycott, D. Bulman, 2012, Orphanet Journal of Rare Diseases.

Mutations in SRCAP, encoding SNF2-related CREBBP activator protein, cause Floating-Harbor syndrome.

Gabriele Gillessen-Kaesbach, Dagmar Wieczorek, Jacek Majewski, 2012, American journal of human genetics.

A recurrent PDGFRB mutation causes familial infantile myofibromatosis.

W. Chung, R. Gibbs, A. Berghuis, 2013, American journal of human genetics.

Genome-Wide Mouse Mutagenesis Reveals CD45-Mediated T Cell Function as Critical in Protective Immunity to HSV-1

M. Blanchette, M. Lathrop, Pablo Cingolani, 2013, PLoS pathogens.

What can exome sequencing do for you?

Nada Jabado, Emilie Lalonde, Jacek Majewski, 2011, Journal of Medical Genetics.

K27M mutation in histone H3.3 defines clinically and biologically distinct subgroups of pediatric diffuse intrinsic pontine gliomas

David T. W. Jones, A. Montpetit, M. Kool, 2012, Acta Neuropathologica.

Differential stability of 2′F-ANA•RNA and ANA•RNA hybrid duplexes: roles of structure, pseudohydrogen bonding, hydration, ion uptake and flexibility

G. Portella, M. Orozco, J. Schwartzentruber, 2010, Nucleic acids research.

Whole-exome sequencing identifies Coronin-1A deficiency in 3 siblings with immunodeficiency and EBV-associated B-cell lymphoproliferation.

A. Fischer, C. Picard, P. Revy, 2013, The Journal of allergy and clinical immunology.

Expanding the Phenotypic Spectrum of Nicotinamide Nucleotide Transhydrogenase (NNT) Mutations and using Whole Exome Sequencing to Discover Potential Disease Modifiers

N. Alirezaie, J. Majewski, J. Schwartzentruber, 2013 .

Mutations in FLNC are Associated with Familial Restrictive Cardiomyopathy

J. Schwartzentruber, M. McKinnon, S. Greenway, 2016, Human Mutation.

High-Grade Gliomas

C. Q. Lee, David T. W. Jones, Michael D. Brooks, 2012, Oxford Medicine Online.

Recurrent somatic alterations of FGFR1 and NTRK2 in pilocytic astrocytoma

Roland Eils, Thomas Zichner, Hans Lehrach, 2013, Nature Genetics.

Mutations in SETD2 and genes affecting histone H3K36 methylation target hemispheric high-grade gliomas

David T. W. Jones, A. Montpetit, M. Kool, 2013, Acta Neuropathologica.

Clonal Selection Drives Genetic Divergence of Metastatic Medulloblastoma

S. Scherer, T. MacDonald, S. Croul, 2012, Nature.

Network expansion of genetic associations defines a pleiotropy map of human cell biology

I. Dunham, H. Hermjakob, S. Orchard, 2021, bioRxiv.

Biallelic mutations in BRCA1 cause a new Fanconi anemia subtype.

Martin Kircher, R. Greenberg, K. Boycott, 2015, Cancer discovery.

Mutations within the spliceosomal gene SNRPB affect its auto‐regulation and are causative for classic cerebro‐costo‐mandibular syndrome

E. Zackai, M. Brudno, K. Boycott, 2015, Clinical genetics.

Molecular Genetics of Achromatopsia in Newfoundland Reveal Genetic Heterogeneity, Founder Effects and the First Cases of Jalili Syndrome in North America

J. Schwartzentruber, T. Young, Jane S Green, 2013, Ophthalmic genetics.

An international effort towards developing standards for best practices in analysis, interpretation and reporting of clinical genome sequencing results in the CLARITY Challenge

Adam P. DeLuca, Matthew S. Lebo, Janeen L Andorf, 2014, Genome Biology.

An international effort towards developing standards for best practices in analysis, interpretation and reporting of clinical genome sequencing results in the CLARITY Challenge

Daniel Nilsson, Peter Szolovits, Karen Eilbeck, 2014, Genome Biology.

Whole‐exome sequencing broadens the phenotypic spectrum of rare pediatric epilepsy: a retrospective study

M. Tarnopolsky, K. Boycott, D. Bulman, 2015, Clinical genetics.

Whole‐exome sequencing in an individual with severe global developmental delay and intractable epilepsy identifies a novel, de novo GRIN2A mutation

K. Boycott, D. Bulman, C. Beaulieu, 2014, Epilepsia.

Mutations in SYNGAP1 Cause Intellectual Disability, Autism, and a Specific Form of Epilepsy by Inducing Haploinsufficiency

J. Lacaille, N. Tommerup, M. Tarnopolsky, 2013, Human mutation.

Syndrome disintegration: Exome sequencing reveals that Fitzsimmons syndrome is a co‐occurrence of multiple events

R. Hennekam, K. Boycott, D. Bulman, 2016, American journal of medical genetics. Part A.

Genome-wide meta-analysis, fine-mapping and integrative prioritization implicate new Alzheimer’s disease risk genes

Daniel J. Gaffney, Andrew R. Bassett, P. Beltrão, 2021, Nature Genetics.

A map of transcriptional heterogeneity and regulatory variation in human microglia

Daniel J. Gaffney, T. Santarius, N. Soranzo, 2019, Nature Genetics.

Genome-wide meta-analysis, fine-mapping, and integrative prioritization implicate new Alzheimer’s disease risk genes

Daniel J. Gaffney, Andrew R. Bassett, P. Beltrão, 2021, Nature Genetics.

Genome-wide association study of developmental dysplasia of the hip identifies an association with GDF5

E. Zeggini, K. Hatzikotoulas, A. Wainwright, 2018, Communications Biology.

An open approach to systematically prioritize causal variants and genes at all published human GWAS trait-associated loci

Ellen M. Schmidt, J. Todd, J. Barrett, 2020, Nature Genetics.

Mapping interindividual dynamics of innate immune response at single-cell resolution

S. Teichmann, J. Marioni, B. Göttgens, 2021, bioRxiv.

Metaphyseal dysplasia with maxillary hypoplasia and brachydactyly is caused by a duplication in RUNX2.

C. Marshall, A. Paterson, F. Glorieux, 2013, American journal of human genetics.

Very low-depth whole-genome sequencing in complex trait association studies

Xiangyu Ge, Jeremy Schwartzentruber, Eleftheria Zeggini, 2017, bioRxiv.

A novel multisystem disease associated with recessive mutations in the tyrosyl‐tRNA synthetase (YARS) gene

M. Tarnopolsky, Lijia Huang, K. Boycott, 2017, American journal of medical genetics. Part A.

An N-terminal formyl methionine on COX 1 is required for the assembly of cytochrome c oxidase.

E. Shoubridge, H. Antonicka, F. Sasarman, 2015, Human molecular genetics.

Whole exome sequencing unravels disease‐causing genes in consanguineous families in Qatar

Z. Nawaz, J. Majewski, J. Schwartzentruber, 2014, Clinical genetics.

Exome Sequencing as a Diagnostic Tool for Pediatric-Onset Ataxia

C. Marshall, M. Tarnopolsky, R. Hegele, 2013, Human mutation.

Debunking Occam's razor: Diagnosing multiple genetic diseases in families by whole‐exome sequencing

B. Fernandez, K. Boycott, T. Hartley, 2017, Clinical genetics.

Utility of whole‐exome sequencing for those near the end of the diagnostic odyssey: time to address gaps in care

B. Fernandez, C. Polychronakos, M. Tarnopolsky, 2015, Clinical genetics.

Genetic variants associated with cross-disorder and disorder-specific risk for psychiatric disorders are enriched at epigenetically active sites in peripheral lymphoid cells

E. Bullmore, M. Lynall, M. Stein, 2021, medRxiv.

Mutations in riboflavin transporter present with severe sensory loss and deafness in childhood

B. Brais, J. Majewski, J. Schwartzentruber, 2014, Muscle & nerve.

Mutations in STAMBP, encoding a deubiquitinating enzyme, cause Microcephaly-Capillary Malformation syndrome

B. Frey, Leo J. Lee, Soma Das, 2013, Nature Genetics.

Mutations in DDHD2, encoding an intracellular phospholipase A(1), cause a recessive form of complex hereditary spastic paraplegia.

A. V. Vulto-van Silfhout, L. Vissers, J. Schuurs-Hoeijmakers, 2012, American journal of human genetics.

Mutations in NFKB2 and potential genetic heterogeneity in patients with DAVID syndrome, having variable endocrine and immune deficiencies

J. Drouin, A. Balsalobre, J. Majewski, 2014, BMC Medical Genetics.

Open Targets Genetics: systematic identification of trait-associated genes using large-scale genetics and functional genomics

Gautier Koscielny, Simon Jupp, Zoe May Pendlington, 2020, Nucleic Acids Res..

Loss of the arginine methyltranserase PRMT7 causes syndromic intellectual disability with microcephaly and brachydactyly

D. Chitayat, K. Boycott, J. Majewski, 2017, Clinical genetics.

CCDC88B is a novel regulator of maturation and effector functions of T cells during pathological inflammation

M. Lathrop, J. Berghout, P. Gros, 2014, The Journal of experimental medicine.

Multi-omics study revealing putative drug targets of COVID-19 severity and other viral infection diseases

I. Dunham, M. Ghoussaini, G. Smith, 2020 .

De novo CCND2 mutations leading to stabilization of cyclin D2 cause megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome

Dagmar Wieczorek, William B. Dobyns, Laurence Faivre, 2014, Nature Genetics.

Mutations in KAT6B, encoding a histone acetyltransferase, cause Genitopatellar syndrome.

R. Gibbs, S. Robertson, M. Bainbridge, 2012, American journal of human genetics.

Mutations in TMEM231 cause Joubert syndrome in French Canadians

D. Labuda, E. Lemyre, G. Rouleau, 2012, Journal of Medical Genetics.

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

D. Valle, N. Sobreira, J. Majewski, 2015, Human mutation.

Mutations in C5ORF42 cause Joubert syndrome in the French Canadian population.

D. Labuda, G. Rouleau, K. Boycott, 2012, American journal of human genetics.

Haploinsufficiency of SF3B4, a component of the pre-mRNA spliceosomal complex, causes Nager syndrome.

Jay Shendure, Michael J Bamshad, Deborah A Nickerson, 2012, American journal of human genetics.

A novel CCBE1 mutation leading to a mild form of hennekam syndrome: case report and review of the literature

J. Majewski, J. Schwartzentruber, L. Simard, 2015, BMC Medical Genetics.

THEMIS Is Required for Pathogenesis of Cerebral Malaria and Protection against Pulmonary Tuberculosis

M. Lathrop, J. Berghout, P. Gros, 2014, Infection and Immunity.

Congenital Visual Impairment and Progressive Microcephaly Due to Lysyl–Transfer Ribonucleic Acid (RNA) Synthetase (KARS) Mutations

K. Boycott, D. Bulman, C. Beaulieu, 2015, Journal of child neurology.

Mutations in CSPP1, encoding a core centrosomal protein, cause a range of ciliopathy phenotypes in humans.

Colin A. Johnson, N. Katsanis, F. Alkuraya, 2014, American journal of human genetics.

Haploinsufficiency of a spliceosomal GTPase encoded by EFTUD2 causes mandibulofacial dysostosis with microcephaly.

D. Horn, B. Gener, D. Lev, 2012, American journal of human genetics.

Compound heterozygous mutations in glycyl-tRNA synthetase are a proposed cause of systemic mitochondrial disease

K. Boycott, D. Bulman, C. Beaulieu, 2014, BMC Medical Genetics.

Two cases of congenital myasthenic syndrome with vocal cord paralysis

M. Tarnopolsky, J. Schwartzentruber, L. Brady, 2015, Neurology.

An inherited immunoglobulin class-switch recombination deficiency associated with a defect in the INO80 chromatin remodeling complex

A. Fischer, Z. Herceg, M. Nussenzweig, 2015, The Journal of allergy and clinical immunology.

Joubert Syndrome in French Canadians and Identification of Mutations in CEP104.

C. Fallet-Bianco, D. Labuda, H. Mandel, 2015, American journal of human genetics.

A proteome-wide genetic investigation identifies several SARS-CoV-2-exploited host targets of clinical relevance

Tom R. Gaunt, V. Gudnason, V. Emilsson, 2021, medRxiv.

Screening for functional regulatory variants in open chromatin using GenIE-ATAC

Andrew R. Bassett, J. Schwartzentruber, Sarah Cooper, 2022, bioRxiv.

Mutations in PIK3R1 cause SHORT syndrome.

Sahar Mansour, Kym M Boycott, Dennis E Bulman, 2013, American journal of human genetics.

Mutations in PIK 3 R 1 Cause SHORT Syndrome

W. Reardon, S. Mansour, K. Boycott, 2013 .

Neuropathologic Features of Pontocerebellar Hypoplasia Type 6

R. Hevner, K. Boycott, D. Bulman, 2014, Journal of neuropathology and experimental neurology.

WDR19: An ancient, retrograde, intraflagellar ciliary protein is mutated in autosomal recessive retinitis pigmentosa and in Senior‐Loken syndrome

J. Majewski, F. Hildebrandt, E. Otto, 2013, Clinical genetics.

Intellectual disability associated with a homozygous missense mutation in THOC6

C. Schwartz, E. Puffenberger, C. Ober, 2013, Orphanet Journal of Rare Diseases.

The Genetic Epidemiology of Developmental Dysplasia of the Hip: A Genome-Wide Association Study Harnessing National Clinical Audit Data

E. Zeggini, K. Hatzikotoulas, D. Eastwood, 2017, bioRxiv.

Altered IFN-γ–Mediated Immunity and Transcriptional Expression Patterns in N-Ethyl-N-Nitrosourea–Induced STAT4 Mutants Confer Susceptibility to Acute Typhoid-like Disease

M. Lathrop, D. Malo, J. Majewski, 2014, The Journal of Immunology.

CYRI/FAM49B negatively regulates RAC1-driven cytoskeletal remodelling and protects against bacterial infection

Judith N. Mandl, D. Malo, J. Majewski, 2019, Nature Microbiology.

CYRI1-mediated inhibition of RAC1 signalling restricts Salmonella Typhimurium infection

Judith N. Mandl, D. Malo, J. Majewski, 2017, bioRxiv.

This information is current as Typhoid-like Disease Mutants Confer Susceptibility to Acute Induced STAT 4 −-Nitrosourea N-Ethyl-N Transcriptional Expression Patterns in Mediated Immunity and − γ Altered IFN -

M. Lathrop, J. Majewski, J. Schwartzentruber, 2013 .

Choroideremia Is a Systemic Disease With Lymphocyte Crystals and Plasma Lipid and RBC Membrane Abnormalities.

H. Vali, J. Majewski, J. Schwartzentruber, 2015, Investigative ophthalmology & visual science.

The utility of exome sequencing for genetic diagnosis in a familial microcephaly epilepsy syndrome

K. Boycott, D. Bulman, C. Beaulieu, 2014, BMC Neurology.

Novel 25 kb Deletion of MERTK Causes Retinitis Pigmentosa With Severe Progression.

C. Marshall, T. Paton, A. Paterson, 2017, Investigative ophthalmology & visual science.

Whole‐exome sequencing expands the phenotype of Hunter syndrome

K. Boycott, C. Beaulieu, J. Majewski, 2014, Clinical genetics.

Toward a computational tool predicting the stereochemical outcome of asymmetric reactions: development and application of a rapid and accurate program based on organic principles.

Nicolas Moitessier, Christopher R Corbeil, Sabine Thielges, 2008, Angewandte Chemie.

Bridging the Gap between Single Molecule and Ensemble Methods for Measuring Lateral Dynamics in the Plasma Membrane

J. Schwartzentruber, M. Clausen, B. Lagerholm, 2013, PloS one.

Screening for functional transcriptional and splicing regulatory variants with GenIE

Andrew R. Bassett, J. Schwartzentruber, Sarah Cooper, 2020, Nucleic acids research.

High grade gliomas

C. Q. Lee, David T. W. Jones, Michael D. Brooks, 2022, Progress in Brain Research.

Severe Neonatal Presentation of Mitochondrial Citrate Carrier (SLC25A1) Deficiency.

D. Bulman, C. Beaulieu, J. Majewski, 2016, JIMD reports.

Mutations in FLNC are Associated with Familial Restrictive Cardiomyopathy

J. Schwartzentruber, M. McKinnon, S. Greenway, 2016, Human mutation.

Mutations in TMEM231 cause Joubert syndrome in French Canadians

D. Labuda, E. Lemyre, G. Rouleau, 2012, Journal of Medical Genetics.

Disrupted auto-regulation of the spliceosomal gene SNRPB causes cerebro–costo–mandibular syndrome

E. Zackai, M. Brudno, K. Boycott, 2014, Nature Communications.

Biallelic mutations in BRCA1 cause a new Fanconi anemia subtype.

Martin Kircher, R. Greenberg, K. Boycott, 2015, Cancer discovery.

Whole‐exome sequencing in an individual with severe global developmental delay and intractable epilepsy identifies a novel, de novo GRIN2A mutation

K. Boycott, D. Bulman, C. Beaulieu, 2014, Epilepsia.

Mutations in ALDH6A1 encoding methylmalonate semialdehyde dehydrogenase are associated with dysmyelination and transient methylmalonic aciduria

S. Ferdinandusse, K. Boycott, D. Bulman, 2013, Orphanet Journal of Rare Diseases.

An open approach to systematically prioritize causal variants and genes at all published human GWAS trait-associated loci

J. Todd, J. Barrett, I. Dunham, 2021, Nature Genetics.