Publications by authors named "Sharan Goobie"

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Metabolic Control and Frequency of Clinical Monitoring Among Canadian Children With Phenylalanine Hydroxylase Deficiency: A Retrospective Cohort Study.
Nataliya Yuskiv, Ammar Saad, Beth K Potter, Sylvia Stockler-Ipsiroglu, John J Mitchell, Sharan Goobie

JIMD Rep· September 2025

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Sexual dimorphism in pathogenic variant-harbouring individuals.
Julie Richer, Joe Davis Velchev, Sharan Goobie, Christie A Boswell-Patterson, Ingrid M B H van de Laar

J Med Genet· February 2025

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Family-centred care interventions for children with chronic conditions: A scoping review.
Andrea J Chow, Ammar Saad, Zobaida Al-Baldawi, Ryan Iverson, Becky Skidmore, Sharan Goobie

Health Expect· February 2024

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Assessing the quality and value of metabolic chart data for capturing core outcomes for pediatric medium-chain acyl-CoA dehydrogenase (MCAD) deficiency.
Ryan Iverson, Monica Taljaard, Michael T Geraghty, Michael Pugliese, Kylie Tingley, Sharan Goobie

BMC Pediatr· January 2024

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Myoclonus-Dystonia Presentation of Gene Mutation in a Canadian Mennonite.
Jacky Ganguly, Mellany Tuesta Bernaola, Sharan Goobie, Asuri Prasad, Mandar Jog

Mov Disord Clin Pract· February 2022

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Families' healthcare experiences for children with inherited metabolic diseases: protocol for a mixed methods cohort study.
Andrea J Chow, Ryan Iverson, Monica Lamoureux, Kylie Tingley, Isabel Jordan, Sharan Goobie

BMJ Open· February 2022

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The phenotypic spectrum of AMER1-related osteopathia striata with cranial sclerosis: The first Canadian cohort.
David Heikoop, Lauren Brick, David Chitayat, Samantha Colaiacovo, Lucie Dupuis, Sharan Goobie

Am J Med Genet A· December 2021

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Mutations in Two Patients With Developmental Delay With or Without Epileptic Seizures.
Ping Yang, Robert Broadbent, Chitra Prasad, Simon Levin, Sharan Goobie

Front Neurol· December 2021

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X-linked BCOR-related syndrome in two male siblings.
Nicole E Archer, Leanne Mercer, Sharan Goobie, Lea Velsher, Samantha Colaiacovo

Clin Dysmorphol· April 2021

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Further delineation of Basel-Vanagaite-Smirin-Yosef syndrome: Report of three patients.
Devon Haynes, Lynda Pollack, Chitra Prasad, Sharan Goobie, Samantha Colaiacovo

Am J Med Genet A· July 2020

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Evaluation of the quality of clinical data collection for a pan-Canadian cohort of children affected by inherited metabolic diseases: lessons learned from the Canadian Inherited Metabolic Diseases Research Network.
Kylie Tingley, Monica Lamoureux, Michael Pugliese, Michael T Geraghty, Jonathan B Kronick, Sharan Goobie

Orphanet J Rare Dis· April 2020

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ALU transposition induces familial hypertrophic cardiomyopathy.
Landry Nfonsam, Lijia Huang, Nancy Carson, Jean McGowan-Jordan, Melanie Beaulieu Bergeron, Sharan Goobie

Mol Genet Genomic Med· January 2020

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Development of Criteria for Epilepsy Genetic Testing in Ontario, Canada.
Puneet Jain, Danielle Andrade, Elizabeth Donner, David Dyment, Asuri N Prasad, Sharan Goobie

Can J Neurol Sci· January 2019

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Psychosocial impact on mothers receiving expanded newborn screening results.
Kathleen O'Connor, Tara Jukes, Sharan Goobie, Jennifer DiRaimo, Greg Moran

Eur J Hum Genet· April 2018

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Choosing Wisely Canada: The Canadian College of Medical Geneticists' (CCMG) list of five items physicians and patients should question.
Elaine Goh, Andrea Guerin, Joanna Lazier, Sharan Goobie, Tanya N Nelson

J Med Genet· February 2018

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Autosomal Recessive Agammaglobulinemia Due to a Homozygous Mutation in PIK3R1.
Paoyun Tang, Julia E M Upton, Michelle A Barton-Forbes, Marina I Salvadori, Meghan P Clynick, Sharan L Goobie

J Clin Immunol· January 2018

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Molecular characterization of NRXN1 deletions from 19,263 clinical microarray cases identifies exons important for neurodevelopmental disease expression.
Chelsea Lowther, Marsha Speevak, Christine M Armour, Elaine S Goh, Gail E Graham, Sharan Goobie

Genet Med· January 2017

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KMT2D p.Gln3575His segregating in a family with autosomal dominant choanal atresia strengthens the Kabuki/CHARGE connection.
Lauren Badalato, Sali M K Farhan, Allison A Dilliott, , Dennis E Bulman, Sharan L Goobie

Am J Med Genet A· January 2017

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Cerebellar liponeurocytoma: a rare intracranial tumor with possible familial predisposition. Case report.
Amparo Wolf, Huda Alghefari, Daria Krivosheya, Michael D Staudt, Gregory Bowden, Sharan Goobie

J Neurosurg· July 2016

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Biotinidase deficiency: Spectrum of molecular, enzymatic and clinical information from newborn screening Ontario, Canada (2007-2014).
Srinitya Gannavarapu, Chitra Prasad, Jennifer DiRaimo, Melanie Napier, Sharan Goobie

Mol Genet Metab· November 2015

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Deletion of 15q11.2(BP1-BP2) region: further evidence for lack of phenotypic specificity in a pediatric population.
Bita Hashemi, Anne Bassett, David Chitayat, Karen Chong, Mark Feldman, Sharan Goobie

Am J Med Genet A· September 2015

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VAMP1 mutation causes dominant hereditary spastic ataxia in Newfoundland families.
Cynthia V Bourassa, Inge A Meijer, Nancy D Merner, Kanwal K Grewal, Mark G Stefanelli, Sharan Goobie

Am J Hum Genet· September 2012

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Definition of a critical genetic interval related to kidney abnormalities in the Potocki-Lupski syndrome.
Elaine Suk-Ying Goh, Irene C Perez, Cesar P Canales, Phillip Ruiz, Ron Agatep, Sharan Goobie

Am J Med Genet A· July 2012

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Infantile muscular dystrophy in Canadian aboriginals is an αB-crystallinopathy.
Marc R Del Bigio, Albert E Chudley, Harvey B Sarnat, Craig Campbell, Sharan Goobie

Ann Neurol· May 2011

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Coronal synostosis syndrome (Muenke syndrome): the value of genetic testing versus clinical diagnosis.
Adrianna Ranger, Navjot Chaudhary, Jill Rau, Damic Matir, Sharan Goobie

J Craniofac Surg· January 2011

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