Author

Lemuel Racacho

Observed names: L. Racacho, Lem Racacho, Lemuel J. Racacho, Racacho, Lemuel, Racacho, Lemuel Jean

Institutions: Alberta Children's Hospital, Alberta Precision Laboratories

Observed institutions: University Health Network, University of Ottawa, University of Toronto, Children's Hospital of Eastern Ontario, Toronto Western Hospital, Ottawa Hospital, Alberta Children's Hospital, Newborn Screening Ontario, Ottawa Hospital Research Institute, Alberta Precision Laboratories, CHEO Research Institute

ORCID: 0000-0001-7647-7727

Observed ORCID: 0000-0001-7647-7727

OpenAlex ID: A5068433203

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

2011 · Guang Shi, Jeffrey R. Lee, et al. · Human Molecular Genetics · 171

A novel locus for inherited myoclonus-dystonia on 18p11

2002 · D. A. Grimes, F. Han, et al. · Neurology · 117

Translated mutation in the Nurr1 gene as a cause for Parkinson's disease

2006 · David A. Grimes, Fabin Han, et al. · Movement Disorders · 108

Brachydactyly A-1 mutations restricted to the central region of the N-terminal active fragment of Indian Hedgehog

2009 · Ashley M Byrnes, Lemuel Racacho, et al. · European Journal of Human Genetics · 60

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A novel mutation in the IHH gene causes brachydactyly type A1: a 95-year-old mystery resolved

2002 · Elizabeth McCready, Elizabeth Sweeney, et al. · Human Genetics · 47

Voluntary Running Triggers VGF-Mediated Oligodendrogenesis to Prolong the Lifespan of Snf2h-Null Ataxic Mice

2016 · Matías Alvarez-Saavedra, Yves De Repentigny, et al. · Cell Reports · 45

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Mutations in the ε- sarcoglycan gene found to be uncommon in seven myoclonus–dystonia families

2003 · F. Han, A. E. Lang, et al. · Neurology · 42

Targeted Next-generation Sequencing and Bioinformatics Pipeline to Evaluate Genetic Determinants of Constitutional Disease

2018 · Allison A. Dilliott, Sali M.K. Farhan, et al. · Journal of Visualized Experiments · 41

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Refinement of the DYT15 locus in myoclonus dystonia

2007 · Fabin Han, Lemuel Racacho, et al. · Movement Disorders · 41

Mutations in GDF5 presenting as semidominant brachydactyly A1

2010 · Ashley M. Byrnes, Lemuel Racacho, et al. · Human Mutation · 36

The ONDRISeq panel: custom-designed next-generation sequencing of genes related to neurodegeneration

2016 · Sali M K Farhan, Allison A Dilliott, et al. · npj Genomic Medicine · 35

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Mutations in the glucocerebrosidase gene are common in patients with Parkinson's disease from Eastern Canada

2015 · Fabin Han, David A. Grimes, et al. · International Journal of Neuroscience · 27

Two novel disease-causing variants in BMPR1B are associated with brachydactyly type A1

2015 · Lemuel Racacho, Ashley M Byrnes, et al. · European Journal of Human Genetics · 24

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Evidence Favoring Genetic Heterogeneity for Febrile Convulsions

2000 · Lemuel J. Racacho, Richard S. McLachlan, et al. · Epilepsia · 23

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Large deletions account for an increasing number of mutations in SGCE

2007 · Fabin Han, Lemuel Racacho, et al. · Movement Disorders · 17

Targeted Next-generation Sequencing and Bioinformatics Pipeline to Evaluate Genetic Determinants of Constitutional Disease

2018 · Allison A. Dilliott, Sali M.K. Farhan, et al. · Journal of Visualized Experiments · 15

LRRK2 Screening in a Canadian Parkinson's Disease Cohort

2007 · D. A. Grimes, L. Racacho, et al. · Canadian Journal of Neurological Sciences / Journal Canadien des Sciences Neurologiques · 13

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Specifications of the ACMG/AMP guidelines for ACADVL variant interpretation

2023 · May Flowers, Alexa Dickson, et al. · Molecular Genetics and Metabolism · 10

A mutation in the serine protease TMPRSS4 in a novel pediatric neurodegenerative disorder

2013 · Piya Lahiry, Lemuel Racacho, et al. · Orphanet Journal of Rare Diseases · 10

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Genetic Variation in the Ontario Neurodegenerative Disease Research Initiative

2019 · Allison A. Dilliott, Emily C. Evans, et al. · Canadian Journal of Neurological Sciences / Journal Canadien des Sciences Neurologiques · 7

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Large French‐Canadian family with Lewy body parkinsonism: Exclusion of known loci

2002 · David A. Grimes, J. David Grimes, et al. · Movement Disorders · 3

Assessment of genes involved in lysosomal diseases using the ClinGen Clinical Validity framework

2024 · Emily Groopman, Shruthi Mohan, et al. · Molecular Genetics and Metabolism · 1

Assessment of genes involved in lysosomal diseases using the ClinGen clinical validity framework

2024 · Goldstein, Jennifer, Mao, Rong, et al. · Carolina Digital Repository (University of North Carolina at Chapel Hill)

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P687: Variant classification discrepancies in the ACADVL gene

2024 · Alexa Dickson, May Flowers, et al. · Genetics in Medicine Open

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Assessment of Genes Involved in Lysosomal Diseases Using the Clingen Clinical Validity Framework

2024 · Emily Groopman, Shruthi Mohan, et al. · SSRN Electronic Journal

Works count: 30

Citation count: 893

H-index: 15

I10-index: 19