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Genetics

D-Index
61
Citations
26665
World Ranking
3022
National Ranking
110

Overview

Dennis E. Bulman is affiliated with the Children's Hospital of Eastern Ontario in Canada. Their research intersects several disciplines within medicine and biochemistry, genetics, and molecular biology.

The scientist's recent publications cover a range of topics in neurology, genetics, and neuroimaging, reflecting a focus on genetic neurodegenerative diseases and genomic variations. Notable papers include:

  • Estimate of the contemporary live-birth prevalence of recurrent 22q11.2 deletions: a cross-sectional analysis from population-based newborn screening, 2021, CMAJ Open
  • Cognitive correlates of antisaccade behaviour across multiple neurodegenerative diseases, 2023, Brain Communications
  • MRI-visible perivascular space volumes, sleep duration and daytime dysfunction in adults with cerebrovascular disease, 2021, Sleep Medicine
  • A novel pathogenic missense ADAMTS17 variant that impairs secretion causes Weill-Marchesani Syndrome with variably dysmorphic hand features, 2020, Scientific Reports
  • Alberta Spinal Muscular Atrophy Newborn Screening-Results from Year 1 Pilot Project, 2023, International Journal of Neonatal Screening

Bulman's frequent coauthors include Richard H. Swartz, Brian Tan, Robert Bartha, Courtney Berezuk, and Melissa F. Holmes, indicating a collaborative research environment across related fields. This network supports multidisciplinary approaches particularly relevant for studies in neurology and molecular biology.

Publications by Bulman have appeared in journals with a focus on neurology, screening, and molecular genetics. The frequent publication venues are:

  • Brain Communications
  • CMAJ Open
  • International Journal of Neonatal Screening
  • Sleep Medicine
  • Scientific Reports

Bulman's primary fields of study include Medicine and Biochemistry, Genetics and Molecular Biology. Within these fields, subfields of specialization are Molecular Biology, Neurology, Genetics, Epidemiology, and Cellular and Molecular Neuroscience. This breadth encompasses both clinical and molecular perspectives on human health conditions.

The scientist's main research topics cover:

  • Genomic variations and chromosomal abnormalities
  • Neurological Disease Mechanisms and Treatments
  • RNA modifications and cancer
  • Advanced Neuroimaging Techniques and Applications
  • Genomics and Rare Diseases
  • Genetic Neurodegenerative Diseases
  • Mitochondrial Function and Pathology

Best Publications

  • Guidelines for the use and interpretation of assays for monitoring autophagy

    Daniel J. Klionsky;Fabio C. Abdalla;Hagai Abeliovich;Robert T. Abraham

  • Familial Hemiplegic Migraine and Episodic Ataxia Type-2 Are Caused by Mutations in the Ca2+ Channel Gene CACNL1A4

    Roel A. Ophoff;Gisela M. Terwindt;Monique N. Vergouwe;Ronald Van Eijk

  • A Population-Based Study of Multiple Sclerosis in Twins

    G C Ebers;D E Bulman;A D Sadovnick;D W Paty

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

    Kym M. Boycott;Megan R. Vanstone;Dennis E. Bulman;Alex E. MacKenzie

  • A full genome search in multiple sclerosis

    G C Ebers;K Kukay;D E Bulman;A D Sadovnick

  • The Duchenne muscular dystrophy gene product is localized in sarcolemma of human skeletal muscle

    Elizabeth E. Zubrzycka-Gaarn;Dennis E. Bulman;George Karpati;Arthur H. M. Burghes

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

    Jean Baptiste Rivière;Ghayda M. Mirzaa;Brian J. O'Roak;Margaret Beddaoui

  • Very mild muscular dystrophy associated with the deletion of 46% of dystrophin.

    S. B. England;L. V. B. Nicholson;M. A. Johnson;S. M. Forrest

  • A population‐based study of multiple sclerosis in twins: Update

    A. D. Sadovnick;H. Armstrong;G. P. A. Rice;D. Bulman

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

    Catherine A. Brownstein;Alan H. Beggs;Nils Homer;Barry Merriman

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

    S L Sawyer;T Hartley;D A Dyment;C L Beaulieu

  • Mutations in EZH2 cause Weaver syndrome.

    William T. Gibson;William T. Gibson;Rebecca L. Hood;Rebecca L. Hood;Shing Hei Zhan;Dennis E. Bulman

  • Parkinson’s disease-linked LRRK2 is expressed in circulating and tissue immune cells and upregulated following recognition of microbial structures

    Mansoureh Hakimi;Mansoureh Hakimi;Thirumahal Selvanantham;Erika Swinton;Ruth F. Padmore

  • FORGE Canada Consortium: Outcomes of a 2-Year National Rare-Disease Gene-Discovery Project

    Chandree L. Beaulieu;Jacek Majewski;Jeremy Schwartzentruber;Mark E. Samuels

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

    Laure Frésard;Craig Smail;Nicole M. Ferraro;Nicole A. Teran

  • A novel sodium channel mutation in a family with hypokalemic periodic paralysis

    D.E. Bulman;K.A. Scoggan;M.D. van Oene;M.W. Nicolle

  • TMEM237 Is Mutated in Individuals with a Joubert Syndrome Related Disorder and Expands the Role of the TMEM Family at the Ciliary Transition Zone

    Lijia Huang;Katarzyna Szymanska;Victor L. Jensen;Andreas R. Janecke

  • Haploinsufficiency of a Spliceosomal GTPase Encoded by EFTUD2 Causes Mandibulofacial Dysostosis with Microcephaly

    Matthew A. Lines;Lijia Huang;Jeremy Schwartzentruber;Stuart L. Douglas

  • Dystrophin expression in the human retina is required for normal function as defined by electroretinography

    De Ann M. Pillers;Dennis E. Bulman;Richard G. Weleber;Dayle A. Sigesmund

  • Functional alteration of PARL contributes to mitochondrial dysregulation in Parkinson's disease

    Guang Shi;Jeffrey R. Lee;David A. Grimes;David A. Grimes;Lemuel Racacho

Frequent Co-Authors

Kym M. Boycott
Kym M. Boycott Children's Hospital of Eastern Ontario
Jacek Majewski
Jacek Majewski McGill University
Jeremy Schwartzentruber
Jeremy Schwartzentruber Wellcome Sanger Institute
David A. Dyment
David A. Dyment University of Ottawa
Peter N. Ray
Peter N. Ray University of Toronto
George C. Ebers
George C. Ebers University of Oxford
Robert A. Hegele
Robert A. Hegele University of Western Ontario
A. Micheil Innes
A. Micheil Innes University of Calgary
Mark A. Tarnopolsky
Mark A. Tarnopolsky McMaster University
Anthony E. Lang
Anthony E. Lang University of Toronto

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