K. Boycott

发表

The Matchmaker Exchange: A Platform for Rare Disease Gene Discovery

Orion J. Buske, Danielle R Azzariti, G. J. Swaminathan, 2015, Human mutation.

Identification of rare-disease genes using blood transcriptome sequencing and large control cohorts

Benjamin J. Strober, Sarah E. Gould, David R. Murdock, 2019, Nature Medicine.

Future of Rare Diseases Research 2017–2027: An IRDiRC Perspective

Christine M. Cutillo, S. Terry, C. Austin, 2017, Clinical and translational science.

The role of the clinician in the multi-omics era: are you ready?

Wyeth W. Wasserman, Ron A. Wevers, Clara D. M. van Karnebeek, 2018, Journal of Inherited Metabolic Disease.

International Cooperation to Enable the Diagnosis of All Rare Genetic Diseases

Peter N. Robinson, A. Philippakis, M. Hurles, 2017, American journal of human genetics.

Improved Diagnosis and Care for Rare Diseases through Implementation of Precision Public Health Framework.

Faye L. Bowman, M. Brudno, T. Groza, 2017, Advances in experimental medicine and biology.

‘IRDiRC Recognized Resources': a new mechanism to support scientists to conduct efficient, high-quality research for rare diseases

Christopher P Austin, Hanns Lochmüller, Kym M Boycott, 2016, European Journal of Human Genetics.

PhenomeCentral: A Portal for Phenotypic and Genotypic Matchmaking of Patients with Rare Genetic Diseases

Michael Brudno, Sergiu Dumitriu, Orion J. Buske, 2015, Human mutation.

Rare-disease genetics in the era of next-generation sequencing: discovery to translation

K. Boycott, D. Bulman, M. Vanstone, 2013, Nature Reviews Genetics.

Model Organisms Facilitate Rare Disease Diagnosis and Therapeutic Research

Michael F. Wangler, J. Postlethwait, M. Westerfield, 2017, Genetics.

PhenoTips: Patient Phenotyping Software for Clinical and Research Use

Michael Brudno, Sergiu Dumitriu, Marc Fiume, 2013, Human mutation.

Construction of a 1.5-Mb bacterial artificial chromosome contig in Xp11.23, a region of high gene content.

K. Boycott, C. G. Russell, R. Zahorchak, 1998, Genomics.

Registered access: authorizing data access

Alan C. Evans, J. D. Spalding, A. Philippakis, 2018, European Journal of Human Genetics.

Consent Codes: Upholding Standard Data Use Conditions

Jordi Rambla De Argila, J. D. Spalding, A. Philippakis, 2016, PLoS genetics.

Addressing challenges in the diagnosis and treatment of rare genetic diseases

K. Boycott, D. Ardigò, 2017, Nature Reviews Drug Discovery.

Progress in Rare Diseases Research 2010–2016: An IRDiRC Perspective

Christine M. Cutillo, C. Austin, P. Kaufmann, 2017, Clinical and translational science.

The Canadian Rare Diseases Models and Mechanisms (RDMM) Network: Connecting Understudied Genes to Model Organisms.

E. Shoubridge, C. Rankin, P. Pavlidis, 2020, American journal of human genetics.

A federated ecosystem for sharing genomic, clinical data

Rachel G Liao, D. Haussler, A. Philippakis, 2016, Science.

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.

Loss-of-function mutations in a calcium-channel α1-subunit gene in Xp11.23 cause incomplete X-linked congenital stationary night blindness

Kym M. Boycott, G. Fishman, B. Koop, 1998, 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.

The value of diagnostic testing for parents of children with rare genetic diseases

K. Boycott, T. Hartley, F. Bernier, 2019, Genetics in Medicine.

Next-generation sequencing for diagnosis of rare diseases in the neonatal intensive care unit

Jacek Majewski, Olga Jarinova, Dennis E. Bulman, 2016, Canadian Medical Association Journal.

Identification of epigenetic signature associated with alpha thalassemia/mental retardation X-linked syndrome

C. Skinner, C. Schwartz, G. Paré, 2017, Epigenetics & Chromatin.

Cost-effectiveness of genome-wide sequencing for unexplained developmental disabilities and multiple congenital anomalies

I. Dhalla, K. Boycott, W. Ungar, 2020, Genetics in Medicine.

Genome-wide sequencing technologies: A primer for paediatricians.

K. Boycott, R. Hayeems, 2018, Paediatrics & child health.

A 2-megabase physical contig incorporating 43 DNA markers on the human X chromosome at p11.23-p11.22 from ZNF21 to DXS255.

D. Schlessinger, K. Boycott, N. Bech-Hansen, 1996, Genomics.

The phenotype of Floating-Harbor syndrome: clinical characterization of 52 individuals with mutations in exon 34 of SRCAP

A. Hoischen, B. D. de Vries, L. S. Lucas, 2013, Orphanet Journal of Rare Diseases.

New Diagnostic Approaches for Undiagnosed Rare Genetic Diseases.

Kym M Boycott, David R Adams, Gabrielle Lemire, 2020, Annual review of genomics and human genetics.

Two females with mutations in USP9X highlight the variable expressivity of the intellectual disability syndrome.

L. Gallagher, K. Boycott, G. Baynam, 2017, European journal of medical genetics.

The International Rare Diseases Research Consortium: Policies and Guidelines to maximize impact

C. Austin, P. Kaufmann, P. Lasko, 2017, European Journal of Human Genetics.

Alternative genomic diagnoses for individuals with a clinical diagnosis of Dubowitz syndrome

B. D. de Vries, T. Matise, E. Boerwinkle, 2020, American journal of medical genetics. Part A.

Identification of a Recognizable Progressive Skeletal Dysplasia Caused by RSPRY1 Mutations.

F. Alkuraya, R. Maas, K. Boycott, 2015, American journal of human genetics.

Identification of a methylation profile for DNMT1-associated autosomal dominant cerebellar ataxia, deafness, and narcolepsy

G. Paré, Lijia Huang, K. Boycott, 2016, Clinical Epigenetics.

The Deep Genome Project

Steve D. M. Brown, Jacqueline K. White, F. Mammano, 2020, Genome Biology.

PLPHP deficiency: clinical, genetic, biochemical, and mechanistic insights

M. Ekker, C. Ross, W. Wasserman, 2019, Brain : a journal of neurology.

Diagnostic clarity of exome sequencing following negative comprehensive panel testing in the neonatal intensive care unit

K. Boycott, K. Kernohan, T. Hartley, 2018, American journal of medical genetics. Part A.

VAMP1 mutation causes dominant hereditary spastic ataxia in Newfoundland families.

M. Jog, W. Pryse-Phillips, G. Rouleau, 2012, American journal of human genetics.

Recessive mutations in the putative calcium-activated chloride channel Anoctamin 5 cause proximal LGMD2L and distal MMD3 muscular dystrophies.

F. Baas, B. Brais, W. Linssen, 2010, American journal of human genetics.

Clinical studies in familial VCP myopathy associated with Paget disease of bone and frontotemporal dementia

Charles D. Smith, S. Mehta, M. Forman, 2008, American journal of medical genetics. Part A.

Mutations in glycyl-tRNA synthetase impair mitochondrial metabolism in neurons

Hanns Lochmüller, K. Boycott, R. Horvath, 2018, Human molecular genetics.

Development of a 1.4-Mb BAC/PAC contig and physical map within the critical region for complete X-linked congenital stationary night blindness in Xp11.4.

K. Boycott, R. Sparkes, R. Zahorchak, 2000, Genomics.

Hypomorphic GINS3 variants alter DNA replication and cause Meier-Gorlin syndrome

Michael D. Wilson, M. Shago, F. Boisvert, 2022, JCI insight.

Evidence for Non‐Mendelian Inheritance in Spastic Paraplegia 7

A. Dagher, M. Tarnopolsky, O. Suchowersky, 2021, Movement disorders : official journal of the Movement Disorder Society.

Germline AGO2 mutations impair RNA interference and human neurological development

R. Pfundt, M. Reijnders, G. Meister, 2020, Nature Communications.

Assessing non-Mendelian Inheritance in Inherited Axonopathies

Dana M. Bis-Brewer, H. Hakonarson, R. Finkel, 2020, Genetics in Medicine.

SLC39A8 Deficiency: A Disorder of Manganese Transport and Glycosylation.

Y. Wada, H. Omran, K. Boycott, 2015, American journal of human genetics.

ModelMatcher: A scientist‐centric online platform to facilitate collaborations between stakeholders of rare and undiagnosed disease research

Michael F. Wangler, Undiagnosed Diseases Network, Zhandong Liu, 2022, Human mutation.

A familial contiguous gene deletion syndrome at Xp22.3 characterized by severe learning disabilities and ADHD

K. Boycott, J. Ross, N. Bech-Hansen, 2003, American journal of medical genetics. Part A.

Searching for secondary findings: considering actionability and preserving the right not to know

A. Munnich, S. Julia, P. Calvas, 2019, European Journal of Human Genetics.

A DNA repair disorder caused by de novo monoallelic DDB1 variants is associated with a neurodevelopmental syndrome.

P. Lockhart, C. Nellåker, D. Wieczorek, 2021, American journal of human genetics.

Mutations in VLDLR as a Cause for Autosomal Recessive Cerebellar Ataxia With Mental Retardation (Dysequilibrium Syndrome)

K. Boycott, C. Beaulieu, J. Parboosingh, 2009, Journal of child neurology.

Clinical application of fetal genome-wide sequencing during pregnancy: position statement of the Canadian College of Medical Geneticists

S. Langlois, K. Boycott, T. Hartley, 2021, Journal of Medical Genetics.

Biallelic Variants in the Ectonucleotidase ENTPD1 Cause a Complex Neurodevelopmental Disorder with Intellectual Disability, Distinct White Matter Abnormalities, and Spastic Paraplegia

J. Lupski, R. Gibbs, S. Jhangiani, 2022, Annals of neurology.

Seven years since the launch of the Matchmaker Exchange: The evolution of genomic matchmaking

Danielle R Azzariti, H. Rehm, A. Hamosh, 2022, Human mutation.

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.

Mosaic KRAS mutation in a patient with encephalocraniocutaneous lipomatosis and renovascular hypertension

K. Boycott, B. Chung, H. Daoud, 2018, American journal of medical genetics. Part A.

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

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

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.

Development of a diagnostic DNA chip to screen for 30 autosomal recessive disorders in the Hutterite population

C. Ober, K. Boycott, A. Innes, 2016, Molecular genetics & genomic medicine.

The recurrent de novo c.2011C>T missense variant in MTSS2 causes syndromic intellectual disability.

H. Bellen, K. Boycott, K. Kernohan, 2022, American journal of human genetics.

Spinocerebellar ataxia type 29 due to mutations in ITPR1: a case series and review of this emerging congenital ataxia

M. Tarnopolsky, K. Boycott, B. Kamien, 2017, Orphanet Journal of Rare Diseases.

PhenomeCentral: 7 years of rare disease matchmaking

Orion J. Buske, Arun K. Ramani, M. Brudno, 2021, Human mutation.

A de novo non-sense mutation in ZBTB18 in a patient with features of the 1q43q44 microdeletion syndrome

A. Hoischen, E. Bongers, H. Brunner, 2013, European Journal of Human Genetics.

Development of Criteria for Epilepsy Genetic Testing in Ontario, Canada

O. Snead, K. Boycott, E. Donner, 2018, Canadian Journal of Neurological Sciences / Journal Canadien des Sciences Neurologiques.

Clinical genetics and the Hutterite population: A review of Mendelian disorders

K. Boycott, F. Bernier, A. Innes, 2008, American journal of medical genetics. Part A.

An siRNA-based functional genomics screen for the identification of regulators of ciliogenesis and ciliopathy genes

Colin A. Johnson, Teunis J. P. van Dam, J. Shendure, 2015, Nature Cell Biology.

Electrophysiological Alterations of Pyramidal Cells and Interneurons of the CA1 Region of the Hippocampus in a Novel Mouse Model of Dravet Syndrome

M. Martina, K. Boycott, L. Nutter, 2020, Genetics.

Complex genomic rearrangements in the dystrophin gene due to replication-based mechanisms

C. Marshall, Martin Li, K. Boycott, 2014, Molecular genetics & genomic medicine.

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.

Resolution of refractory hypotension and anuria in a premature newborn with loss‐of‐function of ACE

K. Boycott, D. Bulman, E. Bareke, 2015, American journal of medical genetics. Part A.

Comparing genome sequencing technologies to improve rare disease diagnostics: a protocol for the evaluation of a pilot project, Genome-wide Sequencing Ontario

C. Marshall, M. Somerville, Lijia Huang, 2022, CMAJ open.

Genomics4RD: An integrated platform to share Canadian deep‐phenotype and multiomic data for international rare disease gene discovery

Orion J. Buske, Arun K. Ramani, C. Marshall, 2022, Human mutation.

Direct health-care costs for children diagnosed with genetic diseases are significantly higher than for children with other chronic diseases

K. Boycott, T. Hartley, A. MacKenzie, 2018, Genetics in Medicine.

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

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

Café‐au‐lait macules and pediatric malignancy caused by biallelic mutations in the DNA mismatch repair (MMR) gene PMS2

A. Pollett, S. Gallinger, K. Boycott, 2008, Pediatric blood & cancer.

Cytogenetic and molecular characterization of a de-novo cryptic deletion of 7p21 associated with an apparently balanced translocation and complex craniosynostosis

K. Boycott, F. Bernier, S. Shetty, 2007, Clinical dysmorphology.

Improving Genetics Clinic Efficiency and Capacity Using Design and Human Factors Methods

Chantal M. J. Trudel, K. Boycott, M. Gillespie, 2021 .

A novel intragenic DPF2 deletion identified by genome sequencing in an adult with clinical features of Coffin‐Siris syndrome

K. Boycott, K. Kernohan, T. Hartley, 2022, American journal of medical genetics. Part A.

Functional correlation of genome‐wide DNA methylation profiles in genetic neurodevelopmental disorders

J. Gécz, S. Robertson, R. Stevenson, 2022, Human mutation.

Positioning whole exome sequencing in the diagnostic pathway for rare disease to optimise utility: a protocol for an observational cohort study and an economic evaluation

K. Boycott, T. Hartley, F. Bernier, 2022, BMJ Open.

Care4Rare Canada: Outcomes from a decade of network science for rare disease gene discovery.

M. Brudno, K. Boycott, K. Kernohan, 2022, American journal of human genetics.

The implementation of an enhanced clinical model to improve the diagnostic yield of exome sequencing for patients with a rare genetic disease: A Canadian experience

Lijia Huang, K. Boycott, T. Hartley, 2022, American journal of medical genetics. Part A.

Neurophysiological Characteristics of Allgrove (Triple A) Syndrome: Case Report and Literature Review

K. Boycott, K. Kernohan, T. Hartley, 2021, Child neurology open.

Clinical delineation of GTPBP2‐associated neuro‐ectodermal syndrome: Report of two new families and review of the literature

K. Boycott, K. Kernohan, S. Venkateswaran, 2019, Clinical genetics.

H3.1 K36M mutation in a congenital‐onset soft tissue neoplasm

J. Ragoussis, K. Boycott, K. Kernohan, 2017, Pediatric blood & cancer.

Mutations in LAMA1 cause cerebellar dysplasia and cysts with and without retinal dystrophy.

K. Gripp, K. Boycott, T. Hartley, 2014, American journal of human genetics.

“Devolution” of bipedality

K. Boycott, J. Parboosingh, J. Herz, 2008, Proceedings of the National Academy of Sciences.

Clinical expression of developmental coordination disorder in a large Canadian family.

K. Boycott, C. Missiuna, R. Gaines, 2008, Paediatrics & child health.

Early infantile epileptic encephalopathy due to biallelic pathogenic variants in PIGQ Report of seven new subjects and review of the literature

Undiagnosed Diseases Network, E. Eklund, Manuela Pendziwiat, 2020 .

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.

Deleterious variants in CRLS1 lead to cardiolipin deficiency and cause an autosomal recessive multi-system mitochondrial disease

S. Ferdinandusse, K. Boycott, J. Fletcher, 2022, Human molecular genetics.

Infantile Myofibromatosis With Intracranial Extradural Involvement and PDGFRB Mutation: A Case Report and Review of the Literature

K. Boycott, S. Sawyer, J. Michaud, 2018, Pediatric and developmental pathology : the official journal of the Society for Pediatric Pathology and the Paediatric Pathology Society.

Nablus mask‐like facial syndrome: Deletion of chromosome 8q22.1 is necessary but not sufficient to cause the phenotype

B. V. van Bon, J. Allanson, S. Aradhya, 2012, American journal of medical genetics. Part A.

International collaborative actions and transparency to understand, diagnose, and develop therapies for rare diseases

Christine M. Cutillo, C. Austin, K. Boycott, 2019, EMBO molecular medicine.

Deep Intronic FGF14 GAA Repeat Expansion in Late-Onset Cerebellar Ataxia.

J. Ragoussis, R. Schüle, L. Schöls, 2022, The New England journal of medicine.

Implementation of Epilepsy Multigene Panel Testing in Ontario, Canada

O. Snead, K. Boycott, T. Hartley, 2019, Canadian Journal of Neurological Sciences / Journal Canadien des Sciences Neurologiques.

Hepatic adenomas caused by somatic HNF1A mutations in children with biallelic mismatch repair gene mutations.

A. Pollett, S. Gallinger, K. Boycott, 2011, Gastroenterology.

Missense mutations in ITPR1 cause autosomal dominant congenital nonprogressive spinocerebellar ataxia

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

De Novo Truncating Mutations in WASF1 Cause Intellectual Disability with Seizures

Henning Gall, Fengyuan Hu, Kevin Rue-Albrecht, 2018, American journal of human genetics.

E. Sell, K. Boycott, M. Tétreault, 2015, European Journal of Human Genetics.

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.

Pyridoxine-Dependent Epilepsy in Zebrafish Caused by Aldh7a1 Deficiency

M. Ekker, T. Bui, K. Boycott, 2017, Genetics.

Mosaic Activating Mutations in FGFR1 Cause Encephalocraniocutaneous Lipomatosis.

B. Chung, R. Hennekam, L. Biesecker, 2016, 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.

Whole genome sequencing identifies pathogenic RNU4ATAC variants in a child with recurrent encephalitis, microcephaly, and normal stature

K. Boycott, K. Kernohan, M. Osmond, 2021, American journal of medical genetics. Part A.

Receptor tyrosine kinase mutations in developmental syndromes and cancer: two sides of the same coin.

K. Boycott, K. Kernohan, S. Sawyer, 2015, Human molecular genetics.

Homozygous mutation in the eukaryotic translation initiation factor 2alpha phosphatase gene, PPP1R15B, is associated with severe microcephaly, short stature and intellectual disability

K. Boycott, K. Kernohan, M. Tétreault, 2015, Human molecular genetics.

The defining DNA methylation signature of Floating-Harbor Syndrome

G. Paré, K. Boycott, D. Bulman, 2016, Scientific Reports.

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.

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.

When to think outside the autozygome: Best practices for exome sequencing in “consanguineous” families

K. Boycott, K. Kernohan, T. Hartley, 2020, Clinical genetics.

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

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

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.

The clinical application of genome-wide sequencing for monogenic diseases in Canada: Position Statement of the Canadian College of Medical Geneticists

B. Fernandez, B. Knoppers, K. Boycott, 2015, Journal of Medical Genetics.

Evidence for genetic heterogeneity in X-linked congenital stationary night blindness.

D. Birch, K. Boycott, Y. Miyake, 1998, American journal of human genetics.

Identification of rare-disease genes in diverse undiagnosed cases using whole blood transcriptome sequencing and large control cohorts

Benjamin J. Strober, Jean M. Davidson, Kevin S. Smith, 2018, bioRxiv.

A Novel Mutation in MARS in a Patient with Charcot-Marie-Tooth Disease, Axonal, Type 2U with Congenital Onset

K. Boycott, K. Kernohan, A. Antonellis, 2019, Journal of neuromuscular diseases.

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.

A Diagnosis for All Rare Genetic Diseases: The Horizon and the Next Frontiers

R. Gibbs, N. Jojic, A. Visel, 2019, Cell.

Neu–Laxova syndrome presenting prenatally with increased nuchal translucency and cystic hygroma: The utility of exome sequencing in deciphering the diagnosis

K. Boycott, K. Kernohan, E. Bareke, 2019, American journal of medical genetics. Part A.

Neu-Laxova syndrome is a heterogeneous metabolic disorder caused by defects in enzymes of the L-serine biosynthesis pathway.

A. Hoischen, R. Pfundt, A. Nordgren, 2014, American journal of human genetics.

Novel diagnostic DNA methylation episignatures expand and refine the epigenetic landscapes of Mendelian disorders

J. Gécz, S. Robertson, R. Stevenson, 2021, HGG advances.

Identification of rare-disease genes using blood transcriptome sequencing and large control cohorts

Jean M. Davidson, Kevin S. Smith, Diane B. Zastrow, 2019, Nature Medicine.

Mutations in EZH2 cause Weaver syndrome.

Steven J. M. Jones, Richard A. Moore, Anthony P. Fejes, 2012, American journal of human genetics.

Compound heterozygous mutations in the gene PIGP are associated with early infantile epileptic encephalopathy

Lijia Huang, K. Boycott, D. Bulman, 2017, Human molecular genetics.

Channelopathies Are a Frequent Cause of Genetic Ataxias Associated with Cerebellar Atrophy

M. Tarnopolsky, B. Brais, O. Suchowersky, 2020, Movement disorders clinical practice.

Whole‐exome sequencing is a valuable diagnostic tool for inherited peripheral neuropathies: Outcomes from a cohort of 50 families

M. Tarnopolsky, K. Boycott, D. Bulman, 2018, Clinical genetics.

Autosomal dominant cutis laxa with progeroid features due to a novel, de novo mutation in ALDH18A1

K. Boycott, T. Hartley, E. Bareke, 2017, Journal of Human Genetics.

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.

Exome Sequencing as a Diagnostic Tool for Pediatric-Onset Ataxia

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

Matchmaker Exchange

Tudor Groza, Julius O. B. Jacobsen, Orion J. Buske, 2017, Current protocols in human genetics.

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.

MCM3AP in recessive Charcot-Marie-Tooth neuropathy and mild intellectual disability

P. Lockhart, L. Kauppi, A. Oshlack, 2017, Brain : a journal of neurology.

MCM 3 AP in recessive Charcot-Marie-Tooth neuropathy and mild intellectual disability

P. Lockhart, L. Kauppi, A. Oshlack, 2022 .

Mutations in UBQLN2 cause dominant X-linked juvenile and adult onset ALS and ALS/dementia

J. Haines, M. Pericak-Vance, E. Mugnaini, 2011, Nature.

Recessive TRAPPC11 mutations cause a disease spectrum of limb girdle muscular dystrophy and myopathy with movement disorder and intellectual disability.

C. Ober, R. Hegele, O. Suchowersky, 2013, American journal of human genetics.

Recessive TRAPPC 11 Mutations Cause a Disease Spectrum of Limb Girdle Muscular Dystrophy and Myopathy with Movement Disorder and Intellectual Disability

C. Ober, R. Hegele, O. Suchowersky, 2013 .

The Human Phenotype Ontology in 2017

Tudor Groza, Damian Smedley, Peter N. Robinson, 2016, Nucleic Acids Res..

Truncating Variants in NAA15 Are Associated with Variable Levels of Intellectual Disability, Autism Spectrum Disorder, and Congenital Anomalies.

J. Rosenfeld, R. Pfundt, M. Shaw, 2018, American journal of human genetics.

Axons to Exons: the Molecular Diagnosis of Rare Neurological Diseases by Next-Generation Sequencing

K. Boycott, T. Hartley, C. Beaulieu, 2015, Current Neurology and Neuroscience Reports.

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

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

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

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

Mutation in Eftud2 causes craniofacial defects in mice via mis-splicing of Mdm2 and increased P53.

J. Fish, K. Boycott, E. Bareke, 2021, Human molecular genetics.

Mis-splicing of Mdm2 leads to Increased P53-Activity and Craniofacial Defects in a MFDM Eftud2 Mutant Mouse Model

J. Fish, K. Boycott, E. Bareke, 2020, bioRxiv.

Mutations in PNPLA6 are linked to photoreceptor degeneration and various forms of childhood blindness

M. Brudno, J. Tolmie, D. Sharon, 2015, Nature Communications.

Autosomal-Recessive Intellectual Disability with Cerebellar Atrophy Syndrome Caused by Mutation of the Manganese and Zinc Transporter Gene SLC39A8.

E. Puffenberger, R. Hegele, S. Küry, 2015, American journal of human genetics.

Autosomal recessive mutations in THOC6 cause intellectual disability: syndrome delineation requiring forward and reverse phenotyping

J. Rivière, K. Boycott, J. Thevenon, 2017, Clinical genetics.

Homozygous WNT9B variants in two families with bilateral renal agenesis/hypoplasia/dysplasia

K. Boycott, Ruobing Zou, K. Kernohan, 2021, American journal of medical genetics. Part A.

Genomic DNA Methylation Signatures Enable Concurrent Diagnosis and Clinical Genetic Variant Classification in Neurodevelopmental Syndromes.

Hanxin Lin, Bekim Sadikovic, Kym M Boycott, 2018, American journal of human genetics.

BAFopathies’ DNA methylation epi-signatures demonstrate diagnostic utility and functional continuum of Coffin–Siris and Nicolaides–Baraitser syndromes

S. Cheung, R. Hennekam, C. Schwartz, 2018, Nature Communications.

When One Diagnosis Is Not Enough.

K. Boycott, A. Innes, 2017, The New England journal of medicine.

Attitudes of parents toward the return of targeted and incidental genomic research findings in children

P. Sorensen, B. Knoppers, K. Boycott, 2014, Genetics in Medicine.

Homozygous mutations in MFN2 cause multiple symmetric lipomatosis associated with neuropathy.

K. Boycott, M. Tétreault, J. Majewski, 2015, Human molecular genetics.

A Mild PUM1 Mutation Is Associated with Adult-Onset Ataxia, whereas Haploinsufficiency Causes Developmental Delay and Seizures

J. Rosenfeld, P. Stankiewicz, A. Breman, 2018, Cell.

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.

Bridging clinical care and research in Ontario, Canada: Maximizing diagnoses from reanalysis of clinical exome sequencing data

Arun K. Ramani, C. Marshall, M. Tarnopolsky, 2022, Clinical genetics.

Concordance between whole‐exome sequencing and clinical Sanger sequencing: implications for patient care

K. Boycott, Ruobing Zou, K. Kernohan, 2016, Molecular genetics & genomic medicine.

Atypical fibrodysplasia ossificans progressiva diagnosed by whole‐exome sequencing

K. Boycott, J. Majewski, D. Grynspan, 2015, American journal of medical genetics. Part A.

A novel mutation in LAMC3 associated with generalized polymicrogyria of the cortex and epilepsy

K. Boycott, T. Hartley, J. Parboosingh, 2017, neurogenetics.

Returning incidental findings from genetic research to children: views of parents of children affected by rare diseases

B. Knoppers, K. Boycott, D. Avard, 2013, Journal of Medical Ethics.

Autosomal recessive hereditary spastic paraplegia—clinical and genetic characteristics of a well-defined cohort

E. Sell, M. Tarnopolsky, W. Meschino, 2013, neurogenetics.

SPEN haploinsufficiency causes a neurodevelopmental disorder overlapping proximal 1p36 deletion syndrome with an episignature of X chromosomes in females.

Meghan C Towne, Carol J. Saunders, B. V. van Bon, 2021, American journal of human genetics.

Unsolved recognizable patterns of human malformation: Challenges and opportunities

K. Boycott, A. Innes, D. Dyment, 2018, American journal of medical genetics. Part C, Seminars in medical genetics.

De Novo Mutations in the Motor Domain of KIF1A Cause Cognitive Impairment, Spastic Paraparesis, Axonal Neuropathy, and Cerebellar Atrophy

G. Rouleau, Eunjoon Kim, T. Kleefstra, 2015, Human mutation.

Next Generation Diagnostics for Rare Neurological Diseases: The Future is Here

K. Boycott, A. Innes, 2014, Canadian Journal of Neurological Sciences / Journal Canadien des Sciences Neurologiques.

Novel variants in TUBA1A cause congenital fibrosis of the extraocular muscles with or without malformations of cortical brain development

D. MacArthur, D. Hunter, A. O’Donnell-Luria, 2021, European Journal of Human Genetics.

Targeted exome analysis identifies the genetic basis of disease in over 50% of patients with a wide range of ataxia-related phenotypes

Soma Das, M. Burmeister, C. Gomez, 2018, Genetics in Medicine.

Late diagnosis of cerebral folate deficiency: Fewer seizures with folinic acid in adult siblings

K. Boycott, D. Dyment, S. Sawyer, 2015, Neurology: Genetics.

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

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

Reporting results from whole-genome and whole-exome sequencing in clinical practice: a proposal for Canada?

Adrian Thorogood, B. Knoppers, A. Thorogood, 2013, Journal of Medical Genetics.

Phenotype and mutation expansion of the PTPN23 associated disorder characterized by neurodevelopmental delay and structural brain abnormalities

M. Lyons, R. Person, C. Ferreira, 2019, European Journal of Human Genetics.

Benchmarking outcomes in the Neonatal Intensive Care Unit: Cytogenetic and molecular diagnostic rates in a retrospective cohort

K. Boycott, T. Hartley, D. Dyment, 2017, American journal of medical genetics. Part A.

K. Boycott, F. Bernier, A. Innes, 2018, American journal of medical genetics. Part A.

Clinical and genetic study of hereditary spastic paraplegia in Canada

O. Suchowersky, G. Rouleau, K. Boycott, 2016, Neurology: Genetics.

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.

Compound heterozygous variants in SHQ1 are associated with a spectrum of neurological features, including early-onset dystonia.

M. D. Del Bigio, K. Boycott, J. Christodoulou, 2021, Human molecular genetics.

Rare Diseases: How Genomics has Transformed Thinking, Diagnoses and Hope for Affected Families

P. Lasko, K. Boycott, A. MacKenzie, 2014 .

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.

Novel Mutations Widen the Phenotypic Spectrum of Slow Skeletal/β‐Cardiac Myosin (MYH7) Distal Myopathy

K. Bushby, A. Beggs, N. Laing, 2014, Human mutation.

Understanding Rare Disease Pathogenesis: A Grand Challenge for Model Organisms

P. Hieter, K. Boycott, 2014, Genetics.

Recent Advances in the Genetic Etiology of Brain Malformations

K. Boycott, D. Dyment, S. Sawyer, 2013, Current Neurology and Neuroscience Reports.

Yunis-Varón syndrome caused by biallelic VAC14 mutations

S. Ferdinandusse, K. Boycott, K. Kernohan, 2017, European Journal of Human Genetics.

ModelMatcher: A scientist-centric online platform to facilitate collaborations between stakeholders of rare and undiagnosed disease research

Michael F. Wangler, Zhandong Liu, P. Pavlidis, 2021, bioRxiv.

The unsolved rare genetic disease atlas? An analysis of the unexplained phenotypic descriptions in OMIM®

K. Boycott, T. Hartley, D. Dyment, 2018, American journal of medical genetics. Part C, Seminars in medical genetics.

Whole‐transcriptome sequencing in blood provides a diagnosis of spinal muscular atrophy with progressive myoclonic epilepsy

Kevin S. Smith, S. Montgomery, Z. Zappala, 2017, Human mutation.

Expansion of the GLE1‐associated arthrogryposis multiplex congenita clinical spectrum

C. Bönnemann, K. Boycott, F. Bernier, 2017, Clinical genetics.

Mandibulofacial Dysostosis with Microcephaly: Mutation and Database Update

E. Zackai, J. Allanson, F. Quintero-Rivera, 2016, Human mutation.

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.

The International Rare Diseases Research Consortium: Policies and Guidelines to maximize impact

C. Austin, P. Kaufmann, P. Lasko, 2017, European Journal of Human Genetics.

Phenotypic delineation of Emanuel syndrome (supernumerary derivative 22 syndrome): Clinical features of 63 individuals

E. Zackai, B. Emanuel, K. Boycott, 2009, American journal of medical genetics. Part A.

Genetic, structural and clinical analysis of spastic paraplegia 4

M. Tarnopolsky, G. Rouleau, O. Suchowersky, 2021, medRxiv.

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.

Identification of genes for childhood heritable diseases.

K. Boycott, M. Vanstone, C. Beaulieu, 2014, Annual review of medicine.

Meckel syndrome in the Hutterite population is actually a Joubert‐related cerebello‐oculo‐renal syndrome

K. Boycott, F. Bernier, A. Innes, 2007, American journal of medical genetics. Part A.

A novel pathogenic variant in TNPO3 in a Hungarian family with limb-girdle muscular dystrophy 1F.

K. Boycott, T. Hartley, B. Melegh, 2019, European journal of medical genetics.

Whole genome sequencing reveals biallelic PLA2G6 mutations in siblings with cerebellar atrophy and cap myopathy

Arun K. Ramani, C. Marshall, K. Boycott, 2021, Clinical genetics.

Adult siblings with homozygous G6PC3 mutations expand our understanding of the severe congenital neutropenia type 4 (SCN4) phenotype

S. Scherer, B. Fernandez, M. Woods, 2012, BMC Medical Genetics.

A novel pathogenic missense ADAMTS17 variant that impairs secretion causes Weill-Marchesani Syndrome with variably dysmorphic hand features

B. Fernandez, M. Brudno, M. Woods, 2020, Scientific Reports.

A ZPR1 mutation is associated with a novel syndrome of growth restriction, distinct craniofacial features, alopecia, and hypoplastic kidneys

K. Boycott, D. Bulman, K. Kernohan, 2018, Clinical genetics.

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

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

Localization of a gene for incomplete X-linked congenital stationary night blindness to the interval between DXS6849 and DXS8023 in Xp11.23

T. Bech-Hansen, K. Boycott, L. Field, 1998, Human Genetics.

Deletion of AFG3L2 associated with spinocerebellar ataxia type 28 in the context of multiple genomic anomalies

Lijia Huang, K. Boycott, K. Myers, 2014, American journal of medical genetics. Part A.

Mutations in PIK3R1 cause SHORT syndrome.

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

Novel ELOVL4 mutation associated with erythrokeratodermia and spinocerebellar ataxia (SCA 34)

K. Boycott, T. Hartley, S. Bradshaw, 2018, Neurology: Genetics.

Mutations in PIK 3 R 1 Cause SHORT Syndrome

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

Risk of breast cancer not increased in translocation 11;22 carriers: Analysis of 80 pedigrees

B. Emanuel, K. Boycott, N. Barrowman, 2010, American journal of medical genetics. Part A.

Neuropathologic Features of Pontocerebellar Hypoplasia Type 6

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

Homozygous contiguous gene deletion of 13q12 causing LGMD2C and ARSACS in the same patient

K. Boycott, M. Carter, H. McMillan, 2009, Muscle & nerve.

Biallelic Mutations in LRRC56 encoding a protein associated with intraflagellar transport, cause mucociliary clearance and laterality defects

Laura A. Crinnion, D. Bonthron, Lijia Huang, 2018, bioRxiv.

ABHD16A deficiency causes a complicated form of hereditary spastic paraplegia associated with intellectual disability and cerebral anomalies.

M. Tarnopolsky, K. Boycott, K. Kernohan, 2021, American journal of human genetics.

Intellectual disability associated with a homozygous missense mutation in THOC6

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

Mutation of POC1B in a Severe Syndromic Retinal Ciliopathy

Yang Wang, Monte Westerfield, Carsten Bergmann, 2014, Human mutation.

Intrafamilial variability of limb-girdle muscular dystrophy, LGMD1D type.

K. Boycott, T. Hartley, B. Melegh, 2020, European journal of medical genetics.

Clinical variability among patients with incomplete X-linked congenital stationary night blindness and a founder mutation in CACNA1F.

K. Boycott, W. Pearce, N. Bech‐Hansen, 2000, Canadian journal of ophthalmology. Journal canadien d'ophtalmologie.

Attitudes of Canadian researchers toward the return to participants of incidental and targeted genomic findings obtained in a pediatric research setting

C. Strahlendorf, P. Sorensen, B. Knoppers, 2013, Genetics in Medicine.

17p13.3 microduplications are associated with split-hand/foot malformation and long-bone deficiency (SHFLD)

C. Schwartz, K. Boycott, D. Bulman, 2011, European Journal of Human Genetics.

Outcome of over 1500 matches through the Matchmaker Exchange for rare disease gene discovery: The 2-year experience of Care4Rare Canada.

Orion J. Buske, M. Brudno, B. Knoppers, 2021, Genetics in medicine : official journal of the American College of Medical Genetics.

“Matching” consent to purpose: The example of the Matchmaker Exchange

Anthony A. Philippakis, Michael Brudno, Heidi L. Rehm, 2017, Human mutation.

Matchmaking facilitates the diagnosis of an autosomal‐recessive mitochondrial disease caused by biallelic mutation of the tRNA isopentenyltransferase (TRIT1) gene

E. Sell, E. Shoubridge, E. Farrow, 2017, Human mutation.

‘IRDiRC Recognized Resources’: a new mechanism to support scientists to conduct efficient, high-quality research for rare diseases

P. Kaufmann, Hanns Lochmüller, K. Boycott, 2016, European Journal of Human Genetics.

Severe connective tissue laxity including aortic dilatation in Sotos syndrome

K. Boycott, D. Bulman, Z. Stark, 2016, American journal of medical genetics. Part A.

Recessive, Deleterious Variants in SMG8 Expand the Role of Nonsense-Mediated Decay in Developmental Disorders in Humans.

F. Alkuraya, Hiroyuki Kuwahara, Xin Gao, 2020, American journal of human genetics.

Autosomal recessive axonal polyneuropathy in a sibling pair due to a novel homozygous mutation in IGHMBP2

Lijia Huang, K. Boycott, D. Bulman, 2015, Neuromuscular Disorders.

Loss-of-function mutations in a calcium-channel alpha1-subunit gene in Xp11.23 cause incomplete X-linked congenital stationary night blindness.

G. Fishman, B. Koop, K. Boycott, 1998, Nature genetics.

Lysosomal dysfunction in TMEM106B hypomyelinating leukodystrophy

K. Boycott, K. Kernohan, T. Hartley, 2018, Neurology: Genetics.

Direct health-care costs for children diagnosed with genetic diseases are significantly higher than for children with other chronic diseases

K. Boycott, T. Hartley, A. MacKenzie, 2018, Genetics in Medicine.

Registered access: authorizing data access

Alan C. Evans, J. D. Spalding, A. Philippakis, 2018, European Journal of Human Genetics.

Translating the Genomics Revolution: The Need for an International Gene Therapy Consortium for Monogenic Diseases

J. Joung, C. Barbas, A. Bogdanove, 2013, Molecular therapy : the journal of the American Society of Gene Therapy.

MSTO1 mutations cause mtDNA depletion, manifesting as muscular dystrophy with cerebellar involvement

Beryl B. Cummings, Carol J. Saunders, C. Saunders, 2019, Acta Neuropathologica.

A generalizable pre-clinical research approach for orphan disease therapy

Sean Ekins, Kym M Boycott, Mark E Samuels, 2012, Orphanet Journal of Rare Diseases.

Floating–Harbor syndrome and polycystic kidneys associated with SRCAP mutation

J. Hurst, K. Boycott, U. Kini, 2012, American journal of medical genetics. Part A.

Microcephaly–capillary malformation syndrome: A story of rapid emergence of a new recognizable entity

K. Boycott, M. Carter, 2011, American journal of medical genetics. Part A.

A summary of 20 CACNA1F mutations identified in 36 families with incomplete X-linked congenital stationary night blindness, and characterization of splice variants

K. Boycott, A. Bergen, M. Pierpont, 2001, Human Genetics.

Matching Two Independent Cohorts Validates DPH1 as a Gene Responsible for Autosomal Recessive Intellectual Disability with Short Stature, Craniofacial, and Ectodermal Anomalies

E. Puffenberger, C. Ober, R. Hegele, 2015, Human mutation.

Autosomal recessive cerebellar ataxia caused by a homozygous mutation in PMPCA.

E. Shoubridge, B. Brais, K. Boycott, 2016, Brain : a journal of neurology.

Autosomal recessive cerebellar hypoplasia in the Hutterite population.

E. Wirrell, K. Barlow, K. Boycott, 2005, Developmental medicine and child neurology.

Homozygous deletion of the very low density lipoprotein receptor gene causes autosomal recessive cerebellar hypoplasia with cerebral gyral simplification.

E. Wirrell, A. Bureau, K. Boycott, 2005, American journal of human genetics.

SPG7 mutations explain a significant proportion of French Canadian spastic ataxia cases

J. Bouchard, B. Brais, G. Rouleau, 2015, European Journal of Human Genetics.

Genetic, structural and clinical analysis of spastic paraplegia 4.

M. Tarnopolsky, O. Suchowersky, G. Rouleau, 2022, Parkinsonism & related disorders.

Association of Early-Onset Spasticity and Risk for Cognitive Impairment With Mutations at Amino Acid 499 in SPAST

K. Boycott, P. Humphreys, H. McMillan, 2018, Journal of child neurology.

Early infantile epileptic encephalopathy due to biallelic pathogenic variants in PIGQ: Report of seven new subjects and review of the literature

Rebecca C. Spillmann, Undiagnosed Diseases Network, E. Eklund, 2020, Journal of inherited metabolic disease.

Nablus syndrome: Easy to diagnose yet difficult to solve

J. Allanson, K. Boycott, A. Lin, 2018, American journal of medical genetics. Part C, Seminars in medical genetics.

Novel Homozygous Variant in COQ7 in Siblings With Hereditary Motor Neuropathy

B. Brais, Hanns Lochmüller, K. Boycott, 2023, Neurology: Genetics.

VLDLR-Associated Cerebellar Hypoplasia

K. Boycott, J. Parboosingh, 2013 .

PDXK mutations cause polyneuropathy responsive to PLP supplementation

Henrik, Houlden, J. Rothman, 2019 .

TMEM237 is mutated in individuals with a Joubert syndrome related disorder and expands the role of the TMEM family at the ciliary transition zone.

Colin A. Johnson, C. Ober, R. Hegele, 2011, American journal of human genetics.

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

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

Whole-exome sequencing identifies novel ECHS1 mutations in Leigh syndrome

John J. Mitchell, E. Shoubridge, H. Antonicka, 2015, Human Genetics.

Lateral meningocele (Lehman) syndrome: A child with a novel NOTCH3 mutation

Lijia Huang, K. Boycott, T. Hartley, 2016, American journal of medical genetics. Part A.

Mutations in GALC cause late-onset Krabbe disease with predominant cerebellar ataxia

B. Brais, K. Boycott, M. Tétreault, 2016, neurogenetics.

Evidence for Non‐Mendelian Inheritance in Spastic Paraplegia 7

A. Dagher, M. Tarnopolsky, O. Suchowersky, 2020, medRxiv.

Mining the transcriptome for rare disease therapies: a comparison of the efficiencies of two data mining approaches and a targeted cell-based drug screen

K. Boycott, J. Hadwen, D. Dyment, 2017, npj Genomic Medicine.

The complexity of diagnosing rare disease: An organizing framework for outcomes research and health economics based on real-world evidence

K. Boycott, T. Hartley, F. Bernier, 2021, Genetics in Medicine.

Phenotype delineation of ZNF462 related syndrome

E. Zackai, N. Fleischer, K. Boycott, 2019, American journal of medical genetics. Part A.

novel de novo mutation in PRKCE ( Protein Kinase C ) impairing TORC 2 dependent AKT ɛ activation

K. Boycott, T. Hartley, M. Tétreault, 2019 .

SHORT syndrome due to a novel de novo mutation in PRKCE (Protein Kinase C[Latin Small Letter Open E]) impairing TORC2-dependent AKT activation

K. Boycott, T. Hartley, M. Tétreault, 2017, Human molecular genetics.

Developing a Framework of Cost Elements of Socioeconomic Burden of Rare Disease: A Scoping Review

K. Boycott, D. Lorenzetti, R. Hayeems, 2023, PharmacoEconomics.

Further delineation of BCAP31-linked intellectual disability: description of 17 new families with LoF and missense variants

M. Shaw, J. Gécz, M. Brudno, 2021, European Journal of Human Genetics.

Very late‐onset Sandhoff disease presenting as Kennedy Disease

K. Boycott, M. Geraghty, P. Bourque, 2015, Muscle & nerve.

Mining the transcriptome for rare disease therapies: a comparison of the efficiencies of two data mining approaches and a targeted cell-based drug screen

K. Boycott, A. MacKenzie, J. Hadwen, 2017, npj Genomic Medicine.

Persistent chylothorax associated with lymphatic malformation type 6 due to biallelic pathogenic variants in PIEZO1

K. Boycott, T. Kovesi, S. Rojas, 2023, American journal of medical genetics. Part A.

A Novel Missense Mutation in LIS1 in a Child With Subcortical Band Heterotopia and Pachygyria Inherited From His Mildly Affected Mother With Somatic Mosaicism

Soma Das, W. Dobyns, K. Boycott, 2010, Journal of child neurology.

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

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

Meconium ileus in a Lebanese family secondary to mutations in the GUCY2C gene

K. Boycott, D. Bulman, E. Bareke, 2014, European Journal of Human Genetics.

Whole‐exome sequencing expands the phenotype of Hunter syndrome

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

Searching for secondary findings: considering actionability and preserving the right not to know

A. Munnich, S. Julia, P. Calvas, 2019, European Journal of Human Genetics.

Correspondence on "cost or price of sequencing? implications for economic evaluations in genomic medicine" by Grosse and Gudgeon.

I. Dhalla, K. Boycott, W. Ungar, 2021, Genetics in medicine : official journal of the American College of Medical Genetics.

Daniel Gross, Michael Brudno, Sergiu Dumitriu, 2016, Summit on Clinical Research Informatics.

Preclinical target validation using patient-derived cells

Arthur S Slutsky, J. Isaac, B. Pollock, 2015, Nature Reviews Drug Discovery.

Protocol for a Prospective, Observational Cost-effectiveness Analysis of Returning Secondary Findings of Genome Sequencing for Unexplained Suspected Genetic Conditions.

C. Marshall, M. Somerville, Lijia Huang, 2023, Clinical therapeutics.

Targeted exome analysis identifies the genetic basis of disease in over 50% of patients with a wide range of ataxia-related phenotypes

Soma Das, M. Burmeister, C. Gomez, 2018, Genetics in Medicine.

A novel autosomal recessive malformation syndrome associated with developmental delay and distinctive facies maps to 16ptel in the Hutterite population

E. Puffenberger, K. Boycott, C. Beaulieu, 2010, American journal of medical genetics. Part A.

A call for global action for rare diseases in Africa

Shuyang Zhang, C. Austin, C. Nellåker, 2019, Nature Genetics.

BBS genotype–phenotype assessment of a multiethnic patient cohort calls for a revision of the disease definition

S. Jacobson, G. Fishman, J. Duncan, 2011, Human mutation.

Title The phenotype of Floating-Harbor syndrome : clinical characterization of 52 individuals with mutations in exon 34 of SRCAP Permalink

A. Hoischen, L. S. Lucas, E. Bongers, 2013 .

University of Groningen De Novo Truncating Mutations in WASF 1 Cause Intellectual Disability with Seizures NIHR BioResource ; Care 4 Rare Canada Consortium

R. Pfundt, H. Bokhoven, F. Raymond, 2018 .

p21 protein‐activated kinase 1 is associated with severe regressive autism, and epilepsy

K. Boycott, K. Kernohan, T. Hartley, 2019, Clinical genetics.

Deletion of filamin A in two female patients with periventricular nodular heterotopia

A. Afenjar, S. Aradhya, K. Boycott, 2012, American journal of medical genetics. Part A.

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.

A common flanking variant is associated with enhanced meiotic stability of the FGF14-SCA27B locus

M. Eberle, T. Pastinen, B. Brais, 2023, bioRxiv.

Intronic FGF14 GAA repeat expansions are a common cause of downbeat nystagmus syndromes: frequency, phenotypic profile, and 4-aminopyridine treatment response

D. Rujescu, A. Hartmann, B. Brais, 2023, medRxiv.

SMG9‐deficiency syndrome caused by a homozygous missense variant: Expanding the genotypic and phenotypic spectrum of this developmental disorder

K. Boycott, S. MacDonald, G. Lemire, 2020, American journal of medical genetics. Part A.

PDXK mutations cause polyneuropathy responsive to pyridoxal 5′‐phosphate supplementation

J. Rothman, D. Kullmann, D. Timmann, 2019, Annals of neurology.

RNA sequencing resolves novel DYNC2H1 variants causing short-rib thoracic dysplasia type 3: Case report.

K. Boycott, K. Kernohan, Yijing Liang, 2023, Molecular genetics & genomic medicine.

Precision medicine in rare diseases: What is next?

M. Caulfield, M. Spielmann, A. Nordgren, 2023, Journal of internal medicine.

PDXK Mutations Cause Polyneuropathy Responsive to Pyridoxal 5 0 -Phosphate Supplementation

J. Rothman, M. Ryten, C. Cordivari, 2019 .

PDXK Mutations Cause Polyneuropathy Responsive to Pyridoxal 5 0 -Phosphate Supplementation

J. Rothman, M. Ryten, C. Cordivari, 2019 .

PDXK Mutations Cause Polyneuropathy Responsive to Pyridoxal 5 0 -Phosphate Supplementation

J. Rothman, M. Ryten, C. Cordivari, 2019 .

MEK inhibition in BRAF-mutated melanoma.

K. Boycott, A. MacKenzie, 2012, The New England journal of medicine.

Autosomal recessive cerebellar hypoplasia in the Hutterite population

K. Barlow, K. Boycott, H. Glass, 2005 .

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

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

A founder mutation in BBS2 is responsible for Bardet‐Biedl syndrome in the Hutterite population: utility of SNP arrays in genetically heterogeneous disorders

E. Puffenberger, K. Boycott, C. Beaulieu, 2010, Clinical genetics.

Pathogenic variant in the X-linked ARR3 gene associated with variable early-onset myopia.

K. Boycott, Caitlin Chisholm, G. Lemire, 2023, American journal of medical genetics. Part A.

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.

Genomic DNA Methylation Signatures Enable Concurrent Diagnosis and Clinical Genetic Variant Classification in Neurodevelopmental Syndromes.

C. Skinner, C. Schwartz, G. Paré, 2018, American journal of human genetics.

Specific heterozygous variants in MGP lead to endoplasmic reticulum stress and cause spondyloepiphyseal dysplasia.

K. Boycott, Ricki S. Carroll, Jingjing Li, 2023, Nature communications.

GAA-FGF14 disease: defining its frequency, molecular basis, and 4-aminopyridine response in a large downbeat nystagmus cohort

K. Boycott, M. Synofzik, S. Zuchner, 2024, EBioMedicine.

Spliceosome malfunction causes neurodevelopmental disorders with overlapping features

Rebecca C. Spillmann, R. Pfundt, J. Gécz, 2023, The Journal of clinical investigation.

Mother‐to‐daughter transmission of Kenny–Caffey syndrome associated with the recurrent, dominant FAM111A mutation p.Arg569His

K. Boycott, D. Bulman, J. Marcadier, 2014, Clinical genetics.

Biallelic SOX8 Variants Associated With Novel Syndrome With Myopathy, Skeletal Deformities, Intellectual Disability, and Ovarian Dysfunction

Hanns Lochmüller, K. Boycott, J. Woulfe, 2023, Neurology: Genetics.

Matchmaking facilitates the diagnosis of an autosomal‐recessive mitochondrial disease caused by biallelic mutation of the tRNA isopentenyltransferase (TRIT1) gene

Carol J. Saunders, E. Sell, E. Shoubridge, 2017, Human mutation.

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

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

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

E. Sell, K. Boycott, D. Bulman, 2014, Clinical genetics.

Identification of a DNA methylation episignature for recurrent constellations of embryonic malformations.

A. Hoischen, R. Stevenson, K. Boycott, 2024, American journal of human genetics.