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Tanya N. Nelson · SciRah

Researcher profile · Semantic Scholar

Tanya N. Nelson

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Tanya N. Nelson — researcher profile on SciRah

h-index: 22
Works: 46
Citations: 1,475

Most-cited papers

The clinical application of genome-wide sequencing for monogenic diseases in Canada: Position Statement of the Canadian College of Medical Geneticists
K. Boycott, T. Hartley, S. Adam, F. Bernier +21 more
2015Journal of Medical Genetics217 citations Open access
Semantic Scholar
The Responsibility to Recontact Research Participants after Reinterpretation of Genetic and Genomic Research Results.
Yvonne Bombard, K. Brothers, S. Fitzgerald-Butt, Nanibaa' A. Garrison +12 more
2019American Journal of Human Genetics114 citations Open access
Semantic Scholar
Practice guideline: joint CCMG-SOGC recommendations for the use of chromosomal microarray analysis for prenatal diagnosis and assessment of fetal loss in Canada
Christine M. Armour, S. Dougan, Jo-Ann K. Brock, R. Chari +9 more
2018Journal of Medical Genetics112 citations Open access
Semantic Scholar
Diagnostic Yield and Treatment Impact of Targeted Exome Sequencing in Early-Onset Epilepsy
M. Demos, I. Guella, C. DeGuzman, M. McKenzie +21 more
2017bioRxiv96 citations Open access
Semantic Scholar
The cost and diagnostic yield of exome sequencing for children with suspected genetic disorders: a benchmarking study
Nick Dragojlovic, Alison M. Elliott, S. Adam, C. van Karnebeek +6 more
2018Genetics in Medicine87 citations Open access
Semantic Scholar
Multiple granular cell tumors are an associated feature of LEOPARD syndrome caused by mutation in PTPN11
K. Schrader, Tanya N. Nelson, A. De Luca, D. Huntsman +1 more
2009Clinical Genetics75 citations
Semantic Scholar
De Novo Mutations in EBF3 Cause a Neurodevelopmental Syndrome.
Hannah Sleven, S. Welsh, Jing Yu, M. E. Churchill +17 more
2017American Journal of Human Genetics64 citations Open access
Semantic Scholar
Hypomorphic temperature-sensitive alleles of NSDHL cause CK syndrome.
K. McLarren, T. Severson, Christèle du Souich, D. Stockton +36 more
2010American Journal of Human Genetics59 citations Open access
Semantic Scholar
A novel KCNA1 mutation associated with global delay and persistent cerebellar dysfunction
M. Demos, Vincenzo Macri, K. Farrell, Tanya N. Nelson +3 more
2009Movement Disorders53 citations
Semantic Scholar
Joint SOGC-CCMG Opinion for Reproductive Genetic Carrier Screening: An Update for All Canadian Providers of Maternity and Reproductive Healthcare in the Era of Direct-to-Consumer Testing.
R. Wilson, Isabelle DeBie, Christine M. Armour, Richard N. Brown +5 more
2016Journal of Obstetrics and Gynaecology Canada45 citations
Semantic Scholar
V37I connexin 26 allele in patients with sensorineural hearing loss: Evidence of its pathogenicity
C. Huculak, H. Bruyèrè, Tanya N. Nelson, F. Kozak +1 more
2006American Journal of Medical Genetics. Part A45 citations
Semantic Scholar
Alpha1-antitrypsin deficiency: a clinical-genetic overview
R. Abboud, Tanya N. Nelson, B. Jung, A. Mattman
2011The Application of Clinical Genetics42 citations Open access
Semantic Scholar
Genetic and metabolic investigations for neurodevelopmental disorders: position statement of the Canadian College of Medical Geneticists (CCMG)
M. Carter, M. Srour, P. Au, D. Buhas +9 more
2023Journal of Medical Genetics41 citations Open access
Semantic Scholar
Clinical application of fetal genome-wide sequencing during pregnancy: position statement of the Canadian College of Medical Geneticists
J. Lazier, T. Hartley, Jo-Ann K. Brock, O. Caluseriu +9 more
2021Journal of Medical Genetics40 citations Open access
Semantic Scholar
Profound Neonatal Hypoglycemia and Lactic Acidosis Caused by Pyridoxine-Dependent Epilepsy
S. Mercimek-Mahmutoglu, G. Horvath, M. Coulter-Mackie, Tanya N. Nelson +6 more
2012Pediatrics36 citations
Semantic Scholar
CCMG practice guideline: laboratory guidelines for next-generation sequencing
Stacey Hume, Tanya N. Nelson, M. Speevak, E. McCready +6 more
2019Journal of Medical Genetics34 citations Open access
Semantic Scholar
De novo FGF12 mutation in 2 patients with neonatal-onset epilepsy
I. Guella, L. Huh, M. McKenzie, E. Toyota +11 more
2016Neurology: Genetics34 citations Open access
Semantic Scholar
Uniparental disomy: can SNP array data be used for diagnosis?
Tracy Tucker, Kamilla Schlade-Bartusiak, P. Eydoux, Tanya N. Nelson +1 more
2012Genetics in Medicine31 citations Open access
Semantic Scholar
Characterization of a new X‐linked mental retardation syndrome with microcephaly, cortical malformation, and thin habitus
C. du Souich, Athena Chou, Jingyi Yin, T. Oh +11 more
2009American Journal of Medical Genetics. Part A28 citations
Semantic Scholar
Genome-wide sequencing and the clinical diagnosis of genetic disease: The CAUSES study
Alison M. Elliott, S. Adam, C. du Souich, A. Lehman +47 more
2022HGG advances26 citations Open access
Semantic Scholar
Steroid sulfatase deficiency and contiguous gene deletion syndrome amongst pregnant patients with low serum unconjugated estriols
S. Langlois, L. Armstrong, K. Gall, G. Hulait +7 more
2009Prenatal Diagnosis25 citations
Semantic Scholar
A co‐occurrence of osteogenesis imperfecta type VI and cystinosis
Tracy Tucker, Tanya N. Nelson, S. Sirrs, P. Roughley +5 more
2012American Journal of Medical Genetics. Part A24 citations
Semantic Scholar
A three-tier algorithm for guanidinoacetate methyltransferase (GAMT) deficiency newborn screening.
G. Sinclair, C. van Karnebeek, M. Ester, F. Boyd +3 more
2016Molecular Genetics and Metabolism23 citations
Semantic Scholar
The Genomic Consultation Service: A clinical service designed to improve patient selection for genome‐wide sequencing in British Columbia
Alison M. Elliott, C. du Souich, S. Adam, Nick Dragojlovic +5 more
2018Molecular Genetics & Genomic Medicine20 citations Open access
Semantic Scholar
An Infant With Epilepsy and Recurrent Hemiplegia due to Compound Heterozygous Variants in ATP1A2.
C. Wilbur, S. Buerki, I. Guella, E. Toyota +10 more
2017Pediatric Neurology20 citations
Semantic Scholar
The expanding clinical phenotype of germline ABL1‐associated congenital heart defects and skeletal malformations syndrome
Chun-An Chen, Emeline Crutcher, H. Gill, Tanya N. Nelson +12 more
2020Human Mutation19 citations Open access
Semantic Scholar
Severe FVII deficiency caused by a new point mutation combined with a previously undetected gene deletion
J. Hewitt, Jennifer N. M. Ballard, Tanya N. Nelson, V. C. Smith +6 more
2005British Journal of Haematology18 citations
Semantic Scholar
Severe hemolytic disease of the fetus and newborn due to allo‐anti‐D in a patient with a partial DEL phenotype arising from the variant allele described as RHD*148+1T (RHD*01EL.31)
Elona Turley, E. McGowan, C. Hyland, E. Schoeman +6 more
2018Transfusion11 citations
Semantic Scholar
Renpenning syndrome in a female
Raymond Y. Cho, M. Peñaherrera, C. du Souich, Li-Jia Huang +11 more
2019American Journal of Medical Genetics. Part A10 citations
Semantic Scholar
Performance of a Three-Tier (IRT-DNA-IRT) Cystic Fibrosis Screening Algorithm in British Columbia
G. Sinclair, V. McMahon, Amy Schellenberg, Tanya N. Nelson +2 more
2020International Journal of Neonatal Screening6 citations Open access
Semantic Scholar
Canadian College of Medical Geneticists Canadian Association of Genetic Counsellors Joint Statement on the Process of Informed Consent for Genetic Research
D. Allingham-Hawkins, S. Dyack, Tanya N. Nelson, L. Cartier +1 more
20095 citations
Semantic Scholar
Alpha-1-antitrypsin molecular testing in Canada: A seven year, multi-centre comparison.
A. Mattman, B. Gilfix, Sharon X. Chen, Mari L. DeMarco +10 more
2020Clinical Biochemistry4 citations
Semantic Scholar
Incidental finding of paternal UPD15 in a child with a deletion of 11q21–q22.3, presenting with developmental delay, coloboma and characteristic dysmorphic features
Tracy Tucker, M. Steinraths, T. Oh, Tanya N. Nelson +3 more
2016Clinical Dysmorphology3 citations
Semantic Scholar
Is the Diagnostic rate for the Common subtypes of A1AT Deficiency Consistent across Two Canadian Provinces?
Mathew P. Estey, Tania Tahooni, Tanya N. Nelson, M. Parker +7 more
2021Clinical Biochemistry2 citations
Semantic Scholar
Choosing Wisely Canada: The Canadian College of Medical Geneticists’ (CCMG) list of five items physicians and patients should question
E. Goh, A. Guerin, J. Lazier, Sharan Goobie +5 more
2017Journal of Medical Genetics2 citations Open access
Semantic Scholar
Renal–hepatic–pancreatic dysplasia: An autosomal recessive condition that is not linked to the PKHD1 gene on chromosome 6p21.1‐p12
K. Schrader, Tanya N. Nelson, Deborah E. McFadden, T. Pantzar +1 more
2007American Journal of Medical Genetics. Part A2 citations
Semantic Scholar
Integration of genetic counsellors in genomic testing triage: Outcomes of a Genomic Consultation Service in British Columbia, Canada.
Courtney B. Cook, Nick Dragojlovic, Angela Siemens, S. Adam +7 more
2020European Journal of Medical Genetics1 citations Open access
Semantic Scholar
Performance of a Three-Tier (IRT-DNA-IRT) Cystic Fibrosis Screening Algorithm in British Columbia.
G. Sinclair, V. McMahon, Amy Schellenberg, Tanya N. Nelson +2 more
2020International Journal of Neonatal Screening1 citations Open access
Semantic Scholar
NullCanada: A novel α1-antitrypsin allele with in cis variants Glu366Lys and Ile100Asn.
Sharon X. Chen, Mari L. DeMarco, Mathew P. Estey, Barry D Kyle +6 more
2020Clinical Biochemistry1 citations
Semantic Scholar
Diagnostic Yield and Treatment Impact of Targeted Whole Exome Sequencing in Early Onset Epilepsy (I14.001)
S. Buerki, E. Toyota, I. Guella, M. McKenzie +15 more
2016Neurology1 citations
Semantic Scholar
A NOVEL KCNA1 MUTATION CAUSES EPISODIC ATAXIA TYPE 1 WITH PERSISTENT CEREBELLAR DEFICITS
M. Demos, K. Farrell, Tanya N. Nelson, K. Chapman +1 more
20061 citations
Semantic Scholar
P382: Professionals’ perspectives on the use of digital tools to support patient recontact in clinical genetics
G. D'Amours, Emma Reble, Vernie Aguda, Marc Clausen +11 more
2023Genetics in Medicine Open0 citations Open access
Semantic Scholar
The cost and diagnostic yield of exome sequencing for children with suspected genetic disorders: a benchmarking study
Nick Dragojlovic, Alison M. Elliott, S. Adam, C. van Karnebeek +6 more
2018Genetics in Medicine0 citations Open access
Semantic Scholar
Confirmation of paternity suggests a new mutation in the factor VII gene: ‘Pater certus quouque est’ ‐ Response to Girolami et al
J. Hewitt, Jennifer N. M. Ballard, Tanya N. Nelson, V. C. Smith +6 more
20050 citations Open access
Semantic Scholar
Molecular genetic analysis of human 8p inversion duplication chromosomes
Tanya N. Nelson
19980 citations
Semantic Scholar

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