G. Lemire

发表

New Diagnostic Approaches for Undiagnosed Rare Genetic Diseases.

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

De Novo KAT5 Variants Cause a Syndrome with Recognizable Facial Dysmorphisms, Cerebellar Atrophy, Sleep Disturbance, and Epilepsy.

S. Antonarakis, Xiang-Jiao Yang, E. Beaver, 2020, American journal of human genetics.

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.

Systematic evaluation of genome sequencing for the assessment of fetal structural anomalies

Ryan L. Collins, Jack M. Fu, Christopher W. Whelan, 2020, bioRxiv.

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.

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.

A disease‐causing variant in HNRNPH2 inherited from an unaffected mother with skewed X‐inactivation

D. Dyment, J. Bain, Yoko A. Ito, 2021, American journal of medical genetics. Part A.

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.

Centers for Mendelian Genomics: A decade of facilitating gene discovery

Jeffrey M. Weiss, Ryan L. Collins, Jack M. Fu, 2021, medRxiv.

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.

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.

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.

seqr: A web‐based analysis and collaboration tool for rare disease genomics

H. Rehm, A. O’Donnell-Luria, B. Weisburd, 2021, medRxiv.

Genomic autopsy to identify underlying causes of pregnancy loss and perinatal death

Ryan L. Collins, Jack M. Fu, Beryl B. Cummings, 2023, Nature Medicine.

Further delineation of the clinical spectrum of KAT6B disorders and allelic series of pathogenic variants

E. Zackai, J. Lupski, R. Gibbs, 2020, Genetics in Medicine.

Bi-allelic TTI1 variants cause an autosomal-recessive neurodevelopmental disorder with microcephaly.

J. Rosenfeld, E. Roeder, J. Lupski, 2023, American journal of human genetics.

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.

seqr: A web‐based analysis and collaboration tool for rare disease genomics

D. MacArthur, H. Rehm, A. O’Donnell-Luria, 2022, Human mutation.

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.

The landscape of tolerated genetic variation in humans and primates

Aashish N. Adhikari, S. Batzoglou, Martin Kuhlwilm, 2023, bioRxiv.

The landscape of tolerated genetic variation in humans and primates.

Aashish N. Adhikari, S. Batzoglou, Martin Kuhlwilm, 2023, Science.

Systematic evaluation of genome sequencing for the diagnostic assessment of autism spectrum disorder and fetal structural anomalies.

Ryan L. Collins, Jack M. Fu, Christopher W. Whelan, 2023, American journal of human genetics.

Critical assessment of variant prioritization methods for rare disease diagnosis within the Rare Genomes Project

Julius O. B. Jacobsen, Fullerton, Azza, 2023, medRxiv.

Deep phenotyping of the neuroimaging and skeletal features in KBG syndrome: a study of 53 patients and review of the literature

S. Robertson, K. Devriendt, M. Digilio, 2023, Journal of Medical Genetics.

DNM1L Variant Presenting as Adolescent-Onset Sensory Neuronopathy, Spasticity, Dystonia, and Ataxia

A. O’Donnell-Luria, C. Austin-Tse, C. Kilbane, 2023, Journal of Pediatric Neurology.

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.

A case of familial transmission of the newly described DNMT3A‐Overgrowth Syndrome

J. Gauthier, J. Soucy, M. Delrue, 2017, American journal of medical genetics. Part A.

Exome copy number variant detection, analysis and classification in a large cohort of families with undiagnosed rare genetic disease

Jack M. Fu, K. Garimella, A. O’Donnell-Luria, 2023, medRxiv.

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.

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

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

Spliceosome malfunction causes neurodevelopmental disorders with overlapping features

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