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Grace Yoon

TitleStaff Physician
InstitutionThe Hospital for Sick Children
DepartmentClinical and Metabolic Genetics
Address555 University Avenue
Toronto ON M5G 1X8
Phone416-813-1500
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    Publications listed below are automatically derived from MEDLINE/PubMed and other sources, which might result in incorrect or missing publications. Faculty can login to make corrections and additions.
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    1. Pelletier F, Perrier S, Cayami FK, Mirchi A, Saikali S, Tran LT, Ulrick N, Guerrero K, Rampakakis E, van Spaendonk RML, Naidu S, Pohl D, Gibson WT, Demos M, Goizet C, Tejera-Martin I, Potic A, Fogel BL, Brais B, Sylvain M, Sebire G, Lourenço CM, Bonkowsky JL, Catsman-Berrevoets C, Pinto PS, Tirupathi S, Strømme P, de Grauw T, Gieruszczak-Bialek D, Krägeloh-Mann I, Mierzewska H, Philippi H, Rankin J, Atik T, Banwell B, Benko WS, Blaschek A, Bley A, Boltshauser E, Bratkovic D, Brozova K, Cimas I, Clough C, Corenblum B, Dinopoulos A, Dolan G, Faletra F, Fernandez R, Fletcher J, Garcia Garcia ME, Gasparini P, Gburek-Augustat J, Gonzalez Moron D, Hamati A, Harting I, Hertzberg C, Hill A, Hobson GM, Innes AM, Kauffman M, Kirwin SM, Kluger G, Kolditz P, Kotzaeridou U, La Piana R, Liston E, McClintock W, McEntagart M, McKenzie F, Melançon S, Misbahuddin A, Suri M, Monton FI, Moutton S, Murphy RPJ, Nickel M, Onay H, Orcesi S, Özkinay F, Patzer S, Pedro H, Pekic S, Pineda Marfa M, Pizzino A, Plecko B, Poll-The BT, Popovic V, Rating D, Rioux MF, Rodriguez Espinosa N, Ronan A, Ostergaard JR, Rossignol E, Sanchez-Carpintero R, Schossig A, Senbil N, Sønderberg Roos LK, Stevens CA, Synofzik M, Sztriha L, Tibussek D, Timmann D, Tonduti D, van de Warrenburg BP, Vázquez-López M, Venkateswaran S, Wasling P, Wassmer E, Webster RI, Wiegand G, Yoon G, Rotteveel J, Schiffmann R, van der Knaap M, Vanderver A, Martos-Moreno GÁ, Polychronakos C, Wolf NI, Bernard G. Endocrine and Growth Abnormalities in 4H Leukodystrophy Caused by Variants in POLR3A, POLR3B, and POLR1C. J Clin Endocrinol Metab. 2020 Oct 01. PMID: 33005949.
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    2. Ebrahimi-Fakhari D, Teinert J, Behne R, Wimmer M, D'Amore A, Eberhardt K, Brechmann B, Ziegler M, Jensen DM, Nagabhyrava P, Geisel G, Carmody E, Shamshad U, Dies KA, Yuskaitis CJ, Salussolia CL, Ebrahimi-Fakhari D, Pearson TS, Saffari A, Ziegler A, Kölker S, Volkmann J, Wiesener A, Bearden DR, Lakhani S, Segal D, Udwadia-Hegde A, Martinuzzi A, Hirst J, Perlman S, Takiyama Y, Xiromerisiou G, Vill K, Walker WO, Shukla A, Dubey Gupta R, Dahl N, Aksoy A, Verhelst H, Delgado MR, Kremlikova Pourova R, Sadek AA, Elkhateeb NM, Blumkin L, Brea-Fernández AJ, Dacruz-Álvarez D, Smol T, Ghoumid J, Miguel D, Heine C, Schlump JU, Langen H, Baets J, Bulk S, Darvish H, Bakhtiari S, Kruer MC, Lim-Melia E, Aydinli N, Alanay Y, El-Rashidy O, Nampoothiri S, Patel C, Beetz C, Bauer P, Yoon G, Guillot M, Miller SP, Bourinaris T, Houlden H, Robelin L, Anheim M, Alamri AS, Mahmoud AAH, Inaloo S, Habibzadeh P, Faghihi MA, Jansen AC, Brock S, Roubertie A, Darras BT, Agrawal PB, Santorelli FM, Gleeson J, Zaki MS, Sheikh SI, Bennett JT, Sahin M. Defining the clinical, molecular and imaging spectrum of adaptor protein complex 4-associated hereditary spastic paraplegia. Brain. 2020 Sep 26. PMID: 32979048.
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    3. Grudzinska Pechhacker MK, Yoon G, Hazrati LN, Maynes J, MacDonald H, Tavares E, Vincent A, Heon E. FLVCR1-related disease as a rare cause of retinitis pigmentosa and hereditary sensory autonomic neuropathy. Eur J Med Genet. 2020 Nov; 63(11):104037. PMID: 32822874.
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    4. Han H, Davidson LA, Fan YY, Goldsby JS, Yoon G, Jin UH, Wright GA, Landrock KK, Weeks BR, Wright RC, Allred CD, Jayaraman A, Ivanov I, Roper J, Safe SH, Chapkin RS. Loss of aryl hydrocarbon receptor potentiates FoxM1 signaling to enhance self-renewal of colonic stem and progenitor cells. EMBO J. 2020 Oct 01; 39(19):e104319. PMID: 32915464.
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    5. Bis-Brewer DM, Gan-Or Z, Sleiman P, Hakonarson H, Fazal S, Courel S, Cintra V, Tao F, Estiar MA, Tarnopolsky M, Boycott KM, Yoon G, Suchowersky O, Dupré N, Cheng A, Lloyd TE, Rouleau G, Schüle R, Züchner S. Assessing non-Mendelian inheritance in inherited axonopathies. Genet Med. 2020 Aug 03. PMID: 32741968.
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    6. Guillen Sacoto MJ, Tchasovnikarova IA, Torti E, Forster C, Andrew EH, Anselm I, Baranano KW, Briere LC, Cohen JS, Craigen WJ, Cytrynbaum C, Ekhilevitch N, Elrick MJ, Fatemi A, Fraser JL, Gallagher RC, Guerin A, Haynes D, High FA, Inglese CN, Kiss C, Koenig MK, Krier J, Lindstrom K, Marble M, Meddaugh H, Moran ES, Morel CF, Mu W, Muller EA, Nance J, Natowicz MR, Numis AL, Ostrem B, Pappas J, Stafstrom CE, Streff H, Sweetser DA, Szybowska M, Walker MA, Wang W, Weiss K, Weksberg R, Wheeler PG, Yoon G, Kingston RE, Juusola J. De Novo Variants in the ATPase Module of MORC2 Cause a Neurodevelopmental Disorder with Growth Retardation and Variable Craniofacial Dysmorphism. Am J Hum Genet. 2020 08 06; 107(2):352-363. PMID: 32693025.
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    7. Gauquelin L, Hawkins C, Tam EWY, Miller SP, Yoon G. Pearls & Oy-sters: Fatal brain edema is a rare complication of severe CACNA1A-related disorder. Neurology. 2020 04 07; 94(14):631-634. PMID: 32170034.
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    8. Xiong E, Lynch AE, Corben LA, Delatycki MB, Subramony SH, Bushara K, Gomez CM, Hoyle JC, Yoon G, Ravina B, Mathews KD, Wilmot G, Zesiewicz T, Susan Perlman M, Farmer JM, Rummey C, Lynch DR. Health related quality of life in Friedreich Ataxia in a large heterogeneous cohort. J Neurol Sci. 2020 Mar 15; 410:116642. PMID: 31901720.
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    9. Gauquelin L, Cayami FK, Sztriha L, Yoon G, Tran LT, Guerrero K, Hocke F, van Spaendonk RML, Fung EL, D'Arrigo S, Vasco G, Thiffault I, Niyazov DM, Person R, Lewis KS, Wassmer E, Prescott T, Fallon P, McEntagart M, Rankin J, Webster R, Philippi H, van de Warrenburg B, Timmann D, Dixit A, Searle C, Thakur N, Kruer MC, Sharma S, Vanderver A, Tonduti D, van der Knaap MS, Bertini E, Goizet C, Fribourg S, Wolf NI, Bernard G. Clinical spectrum of POLR3-related leukodystrophy caused by biallelic POLR1C pathogenic variants. Neurol Genet. 2019 Dec; 5(6):e369. PMID: 32042905.
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    10. Rummey C, Corben LA, Delatycki MB, Subramony SH, Bushara K, Gomez CM, Hoyle JC, Yoon G, Ravina B, Mathews KD, Wilmot G, Zesiewicz T, Perlman S, Farmer JM, Lynch DR. Psychometric properties of the Friedreich Ataxia Rating Scale. Neurol Genet. 2019 Dec; 5(6):371. PMID: 32042904.
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    11. Mahjoub A, Cihlarova Z, Tétreault M, MacNeil L, Sondheimer N, Caldecott KW, Hanzlikova H, Yoon G. Homozygous pathogenic variant in BRAT1 associated with nonprogressive cerebellar ataxia. Neurol Genet. 2019 Oct; 5(5):e359. PMID: 31742228.
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    12. Chong M, Yoon G, Susan-Resiga D, Chamberland A, Cheillan D, Paré G, Seidah NG. Hypolipidaemia among patients with PMM2-CDG is associated with low circulating PCSK9 levels: a case report followed by observational and experimental studies. J Med Genet. 2020 01; 57(1):11-17. PMID: 31391289.
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    13. Maio N, Ghosh MC, Costain G, Carnevale A, Si Y, Yoon G, Rouault TA. Reply: IREB2-associated neurodegeneration. Brain. 2019 08 01; 142(8):e41. PMID: 31243430.
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    14. Yoon G, Gaynanova I, Müller CL. Microbial Networks in SPRING - Semi-parametric Rank-Based Correlation and Partial Correlation Estimation for Quantitative Microbiome Data. Front Genet. 2019; 10:516. PMID: 31244881.
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    15. Costain G, Ghosh MC, Maio N, Carnevale A, Si YC, Rouault TA, Yoon G. Absence of iron-responsive element-binding protein 2 causes a novel neurodegenerative syndrome. Brain. 2019 05 01; 142(5):1195-1202. PMID: 30915432.
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    16. Byhoff E, Garg A, Pellicer M, Diaz Y, Yoon GH, Charns MP, Drainoni ML. Provider and Staff Feedback on Screening for Social and Behavioral Determinants of Health for Pediatric Patients. J Am Board Fam Med. 2019 May-Jun; 32(3):297-306. PMID: 31068394.
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    17. Freund KM, Reisinger SA, LeClair AM, Yoon GH, Al-Najar SM, Young GS, González ET, Oliveri JM, Paskett ED. Insurance Stability and Cancer Screening Behaviors. Health Equity. 2019; 3(1):177-182. PMID: 31289777.
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    18. Estañ MC, Fernández-Núñez E, Zaki MS, Esteban MI, Donkervoort S, Hawkins C, Caparros-Martin JA, Saade D, Hu Y, Bolduc V, Chao KR, Nevado J, Lamuedra A, Largo R, Herrero-Beaumont G, Regadera J, Hernandez-Chico C, Tizzano EF, Martinez-Glez V, Carvajal JJ, Zong R, Nelson DL, Otaify GA, Temtamy S, Aglan M, Issa M, Bönnemann CG, Lapunzina P, Yoon G, Ruiz-Perez VL. Recessive mutations in muscle-specific isoforms of FXR1 cause congenital multi-minicore myopathy. Nat Commun. 2019 02 15; 10(1):797. PMID: 30770808.
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    19. Nimmo GAM, Venkatesh S, Pandey AK, Marshall CR, Hazrati LN, Blaser S, Ahmed S, Cameron J, Singh K, Ray PN, Suzuki CK, Yoon G. Bi-allelic mutations of LONP1 encoding the mitochondrial LonP1 protease cause pyruvate dehydrogenase deficiency and profound neurodegeneration with progressive cerebellar atrophy. Hum Mol Genet. 2019 01 15; 28(2):290-306. PMID: 30304514.
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    20. Hannah-Shmouni F, MacNeil L, Potter M, Jobling R, Yoon G, Laughlin S, Blaser S, Inbar-Feigenberg M. Severe cystic degeneration and intractable seizures in a newborn with molybdenum cofactor deficiency type B. Mol Genet Metab Rep. 2019 Mar; 18:11-13. PMID: 30619713.
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    21. Sinha S, Nuñez Martinez CM, Hartley RL, Quintana Alvarez RJ, Yoon G, Biernaskie JA, Nickerson D, Gabriel VA. Epidemiological analysis of pediatric burns in the Dominican Republic reveals a demographic profile at significant risk for electrical burns. Burns. 2019 03; 45(2):471-478. PMID: 30573295.
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    22. Leveille E, Gonorazky HD, Rioux MF, Hazrati LN, Ruskey JA, Carnevale A, Spiegelman D, Dionne-Laporte A, Rouleau GA, Yoon G, Gan-Or Z. Triple A syndrome presenting as complicated hereditary spastic paraplegia. Mol Genet Genomic Med. 2018 11; 6(6):1134-1139. PMID: 30381913.
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    23. McMillan HJ, Telegrafi A, Singleton A, Cho MT, Lelli D, Lynn FC, Griffin J, Asamoah A, Rinne T, Erasmus CE, Koolen DA, Haaxma CA, Keren B, Doummar D, Mignot C, Thompson I, Velsher L, Dehghani M, Vahidi Mehrjardi MY, Maroofian R, Tchan M, Simons C, Christodoulou J, Martín-Hernández E, Guillen Sacoto MJ, Henderson LB, McLaughlin H, Molday LL, Molday RS, Yoon G. Recessive mutations in ATP8A2 cause severe hypotonia, cognitive impairment, hyperkinetic movement disorders and progressive optic atrophy. Orphanet J Rare Dis. 2018 05 31; 13(1):86. PMID: 30012219.
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    24. Ejaz R, Chen S, Isaacs CJ, Carnevale A, Wilson J, George K, Delatycki MB, Perlman SL, Mathews KD, Wilmot GR, Hoyle JC, Subramony SH, Zesiewicz T, Farmer JM, Lynch DR, Yoon G. Impact of Mobility Device Use on Quality of Life in Children With Friedreich Ataxia. J Child Neurol. 2018 05; 33(6):397-404. PMID: 29607705.
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    25. Costain G, Jobling R, Walker S, Reuter MS, Snell M, Bowdin S, Cohn RD, Dupuis L, Hewson S, Mercimek-Andrews S, Shuman C, Sondheimer N, Weksberg R, Yoon G, Meyn MS, Stavropoulos DJ, Scherer SW, Mendoza-Londono R, Marshall CR. Periodic reanalysis of whole-genome sequencing data enhances the diagnostic advantage over standard clinical genetic testing. Eur J Hum Genet. 2018 05; 26(5):740-744. PMID: 29453418.
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    26. Pipo-Deveza J, Fehlings D, Chitayat D, Yoon G, Sroka H, Tein I. Rationale for dopa-responsive CTNNB1/ß-catenin deficient dystonia. Mov Disord. 2018 04; 33(4):656-657. PMID: 29436745.
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    27. Guerin A, Wilson G, Abdullah S, Mertens L, Yoon G, Carter M. Response to phenotypic hetergeneity of POMT2 variants. . 2018 Mar; 176(3):746-747. PMID: 29368392.
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    28. Gauquelin L, Tétreault M, Thiffault I, Farrow E, Miller N, Yoo B, Bareke E, Yoon G, Suchowersky O, Dupré N, Tarnopolsky M, Brais B, Wolf NI, Majewski J, Rouleau GA, Gan-Or Z, Bernard G. POLR3A variants in hereditary spastic paraplegia and ataxia. Brain. 2018 01 01; 141(1):e1. PMID: 29228109.
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    29. Yoon G, Caldecott KW. Nonsyndromic cerebellar ataxias associated with disorders of DNA single-strand break repair. Handb Clin Neurol. 2018; 155:105-115. PMID: 29891053.
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    30. Sinha S, Yoon G, Shin W, Biernaskie JA, Nickerson D, Gabriel VA. Burn clinical trials: A systematic review of registration and publications. Burns. 2018 03; 44(2):263-271. PMID: 29169699.
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    31. Hogarth KA, Costford SR, Yoon G, Sondheimer N, Maynes JT. DNM1L Variant Alters Baseline Mitochondrial Function and Response to Stress in a Patient with Severe Neurological Dysfunction. Biochem Genet. 2018 Apr; 56(1-2):56-77. PMID: 29110115.
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    32. Baskin B, Kalia LV, Banwell BL, Ray PN, Yoon G. Complex genomic rearrangement in SPG11 due to a DNA replication-based mechanism. Mov Disord. 2017 12; 32(12):1792-1794. PMID: 29082553.
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    33. Abdullah S, Hawkins C, Wilson G, Yoon G, Mertens L, Carter MT, Guerin A. Noncompaction cardiomyopathy in an infant with Walker-Warburg syndrome. . 2017 Nov; 173(11):3082-3086. PMID: 28980384.
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    34. McCormick A, Farmer J, Perlman S, Delatycki M, Wilmot G, Matthews K, Yoon G, Hoyle C, Subramony SH, Zesiewicz T, Lynch DR, McCormack SE. Impact of diabetes in the Friedreich ataxia clinical outcome measures study. Ann Clin Transl Neurol. 2017 09; 4(9):622-631. PMID: 28904984.
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    35. Gonorazky HD, Amburgey K, Yoon G, Vajsar J, Widjaja E, Dowling JJ. Subacute demyelinating peripheral neuropathy as a novel presentation of late infantile metachromatic leukodystrophy. Muscle Nerve. 2017 11; 56(5):E41-E44. PMID: 28667691.
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    36. Kellett S, Lemaire M, Miller SP, Licht C, Yoon G, Dlamini N, Noone D. Neonatal stroke and haematuria: Questions. Pediatr Nephrol. 2018 05; 33(5):805-806. PMID: 28717936.
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    37. Kellett S, Lemaire M, Miller SP, Licht C, Yoon G, Dlamini N, Noone D. Neonatal stroke and haematuria: Answers. Pediatr Nephrol. 2018 05; 33(5):807-811. PMID: 28717939.
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    38. Shaheen R, Sebai MA, Patel N, Ewida N, Kurdi W, Altweijri I, Sogaty S, Almardawi E, Seidahmed MZ, Alnemri A, Madirevula S, Ibrahim N, Abdulwahab F, Hashem M, Al-Sheddi T, Alomar R, Alobeid E, Sallout B, AlBaqawi B, AlAali W, Ajaji N, Lesmana H, Hopkin RJ, Dupuis L, Mendoza-Londono R, Al Rukban H, Yoon G, Faqeih E, Alkuraya FS. The genetic landscape of familial congenital hydrocephalus. Ann Neurol. 2017 Jun; 81(6):890-897. PMID: 28556411.
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    39. O'Brien A, Marshall CR, Blaser S, Ray PN, Yoon G. Severe neurodegeneration, progressive cerebral volume loss and diffuse hypomyelination associated with a homozygous frameshift mutation in CSTB. Eur J Hum Genet. 2017 06; 25(6):775-778. PMID: 28378817.
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    40. Wang BX, Grover SA, Kannu P, Yoon G, Laxer RM, Yeh EA, Fish EN. Interferon-Stimulated Gene Expression as a Preferred Biomarker for Disease Activity in Aicardi-Goutières Syndrome. J Interferon Cytokine Res. 2017 04; 37(4):147-152. PMID: 28387595.
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    41. Reynolds JJ, Bicknell LS, Carroll P, Higgs MR, Shaheen R, Murray JE, Papadopoulos DK, Leitch A, Murina O, Tarnauskaite Ž, Wessel SR, Zlatanou A, Vernet A, von Kriegsheim A, Mottram RM, Logan CV, Bye H, Li Y, Brean A, Maddirevula S, Challis RC, Skouloudaki K, Almoisheer A, Alsaif HS, Amar A, Prescott NJ, Bober MB, Duker A, Faqeih E, Seidahmed MZ, Al Tala S, Alswaid A, Ahmed S, Al-Aama JY, Altmüller J, Al Balwi M, Brady AF, Chessa L, Cox H, Fischetto R, Heller R, Henderson BD, Hobson E, Nürnberg P, Percin EF, Peron A, Spaccini L, Quigley AJ, Thakur S, Wise CA, Yoon G, Alnemer M, Tomancak P, Yigit G, Taylor AM, Reijns MA, Simpson MA, Cortez D, Alkuraya FS, Mathew CG, Jackson AP, Stewart GS. Mutations in DONSON disrupt replication fork stability and cause microcephalic dwarfism. Nat Genet. 2017 Apr; 49(4):537-549. PMID: 28191891.
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    42. Gonorazky HD, Marshall CR, Al-Murshed M, Hazrati LN, Thor MG, Hanna MG, Männikkö R, Ray PN, Yoon G. Congenital myopathy with "corona" fibres, selective muscle atrophy, and craniosynostosis associated with novel recessive mutations in SCN4A. Neuromuscul Disord. 2017 Jun; 27(6):574-580. PMID: 28262468.
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    43. Gan-Or Z, Yoon G, Suchowersky O, Dupré N, Rouleau GA. KCNA2 mutations are rare in hereditary spastic paraplegia. Ann Neurol. 2017 02; 81(2):325-326. PMID: 28019661.
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    44. Hoch NC, Hanzlikova H, Rulten SL, Tétreault M, Komulainen E, Ju L, Hornyak P, Zeng Z, Gittens W, Rey SA, Staras K, Mancini GM, McKinnon PJ, Wang ZQ, Wagner JD, Yoon G, Caldecott KW. XRCC1 mutation is associated with PARP1 hyperactivation and cerebellar ataxia. Nature. 2017 01 05; 541(7635):87-91. PMID: 28002403.
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    45. Chrestian N, Dupré N, Gan-Or Z, Szuto A, Chen S, Venkitachalam A, Brisson JD, Warman-Chardon J, Ahmed S, Ashtiani S, MacDonald H, Mohsin N, Mourabit-Amari K, Provencher P, Boycott KM, Stavropoulos DJ, Dion PA, Ray PN, Suchowersky O, Rouleau GA, Yoon G. Clinical and genetic study of hereditary spastic paraplegia in Canada. Neurol Genet. 2017 Feb; 3(1):e122. PMID: 27957547.
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    46. Al-Maawali A, Yoon G, Feigenbaum AS, Halliday WC, Clarke JT, Branson HM, Banwell BL, Chitayat D, Blaser SI. Validation of the finding of hypertrophy of the clava in infantile neuroaxonal dystrophy/PLA2G6 by biometric analysis. Neuroradiology. 2016 Oct; 58(10):1035-1042. PMID: 27516098.
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    47. Blaser SI, Steinlin M, Al-Maawali A, Yoon G. The Pediatric Cerebellum in Inherited Neurodegenerative Disorders: A Pattern-recognition Approach. Neuroimaging Clin N Am. 2016 Aug; 26(3):373-416. PMID: 27423800.
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    48. Patel M, Isaacs CJ, Seyer L, Brigatti K, Gelbard S, Strawser C, Foerster D, Shinnick J, Schadt K, Yiu EM, Delatycki MB, Perlman S, Wilmot GR, Zesiewicz T, Mathews K, Gomez CM, Yoon G, Subramony SH, Brocht A, Farmer J, Lynch DR. Progression of Friedreich ataxia: quantitative characterization over 5 years. Ann Clin Transl Neurol. 2016 09; 3(9):684-94. PMID: 27648458.
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    49. Uddin M, Pellecchia G, Thiruvahindrapuram B, D'Abate L, Merico D, Chan A, Zarrei M, Tammimies K, Walker S, Gazzellone MJ, Nalpathamkalam T, Yuen RK, Devriendt K, Mathonnet G, Lemyre E, Nizard S, Shago M, Joseph-George AM, Noor A, Carter MT, Yoon G, Kannu P, Tihy F, Thorland EC, Marshall CR, Buchanan JA, Speevak M, Stavropoulos DJ, Scherer SW. Indexing Effects of Copy Number Variation on Genes Involved in Developmental Delay. Sci Rep. 2016 07 01; 6:28663. PMID: 27363808.
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    50. Mestre TA, Manole A, MacDonald H, Riazi S, Kraeva N, Hanna MG, Lang AE, Männikkö R, Yoon G. A novel KCNA1 mutation in a family with episodic ataxia and malignant hyperthermia. Neurogenetics. 2016 10; 17(4):245-249. PMID: 27271339.
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    51. Gan-Or Z, Bouslam N, Birouk N, Lissouba A, Chambers DB, Vérièpe J, Androschuk A, Laurent SB, Rochefort D, Spiegelman D, Dionne-Laporte A, Szuto A, Liao M, Figlewicz DA, Bouhouche A, Benomar A, Yahyaoui M, Ouazzani R, Yoon G, Dupré N, Suchowersky O, Bolduc FV, Parker JA, Dion PA, Drapeau P, Rouleau GA, Ouled Amar Bencheikh B. Mutations in CAPN1 Cause Autosomal-Recessive Hereditary Spastic Paraplegia. Am J Hum Genet. 2016 06 02; 98(6):1271. PMID: 27259058.
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    52. Gan-Or Z, Bouslam N, Birouk N, Lissouba A, Chambers DB, Vérièpe J, Androschuk A, Laurent SB, Rochefort D, Spiegelman D, Dionne-Laporte A, Szuto A, Liao M, Figlewicz DA, Bouhouche A, Benomar A, Yahyaoui M, Ouazzani R, Yoon G, Dupré N, Suchowersky O, Bolduc FV, Parker JA, Dion PA, Drapeau P, Rouleau GA, Ouled Amar Bencheikh B. Mutations in CAPN1 Cause Autosomal-Recessive Hereditary Spastic Paraplegia. Am J Hum Genet. 2016 May 05; 98(5):1038-1046. PMID: 27153400.
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    53. Günther S, Elert-Dobkowska E, Soehn AS, Hinreiner S, Yoon G, Heller R, Hellenbroich Y, Hübner CA, Ray PN, Hehr U, Bauer P, Sulek A, Beetz C. High Frequency of Pathogenic Rearrangements in SPG11 and Extensive Contribution of Mutational Hotspots and Founder Alleles. Hum Mutat. 2016 07; 37(7):703-9. PMID: 27071356.
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    54. Shinnick JE, Schadt K, Strawser C, Wilcox N, Perlman SL, Wilmot GR, Gomez CM, Mathews KD, Yoon G, Zesiewicz T, Hoyle C, Subramony SH, Yiu EM, Delatycki MB, Brocht AF, Farmer JM, Lynch DR. Comorbid Medical Conditions in Friedreich Ataxia: Association With Inflammatory Bowel Disease and Growth Hormone Deficiency. J Child Neurol. 2016 08; 31(9):1161-5. PMID: 27071470.
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    55. Banihani R, Baskin B, Halliday W, Kobayashi J, Kawamura A, McAdam L, Ray PN, Yoon G. A Novel Mutation in DMD (c.10797+5G>A) Causes Becker Muscular Dystrophy Associated with Intellectual Disability. J Dev Behav Pediatr. 2016 Apr; 37(3):239-44. PMID: 26836830.
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    56. Pope V, Dupuis L, Kannu P, Mendoza-Londono R, Sajic D, So J, Yoon G, Lara-Corrales I. Buschke-Ollendorff syndrome: a novel case series and systematic review. Br J Dermatol. 2016 Apr; 174(4):723-9. PMID: 26708699.
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    57. Bamaga AK, Riazi S, Amburgey K, Ong S, Halliday W, Diamandis P, Guerguerian AM, Dowling JJ, Yoon G. Neuromuscular conditions associated with malignant hyperthermia in paediatric patients: A 25-year retrospective study. Neuromuscul Disord. 2016 Mar; 26(3):201-6. PMID: 26951757.
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    58. Yoon G, Malam Z, Paton T, Marshall CR, Hyatt E, Ivakine Z, Scherer SW, Lee KS, Hawkins C, Cohn RD. Lethal Disorder of Mitochondrial Fission Caused by Mutations in DNM1L. J Pediatr. 2016 Apr; 171:313-6.e1-2. PMID: 26825290.
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    59. Stavropoulos DJ, Merico D, Jobling R, Bowdin S, Monfared N, Thiruvahindrapuram B, Nalpathamkalam T, Pellecchia G, Yuen RKC, Szego MJ, Hayeems RZ, Shaul RZ, Brudno M, Girdea M, Frey B, Alipanahi B, Ahmed S, Babul-Hirji R, Porras RB, Carter MT, Chad L, Chaudhry A, Chitayat D, Doust SJ, Cytrynbaum C, Dupuis L, Ejaz R, Fishman L, Guerin A, Hashemi B, Helal M, Hewson S, Inbar-Feigenberg M, Kannu P, Karp N, Kim R, Kronick J, Liston E, MacDonald H, Mercimek-Mahmutoglu S, Mendoza-Londono R, Nasr E, Nimmo G, Parkinson N, Quercia N, Raiman J, Roifman M, Schulze A, Shugar A, Shuman C, Sinajon P, Siriwardena K, Weksberg R, Yoon G, Carew C, Erickson R, Leach RA, Klein R, Ray PN, Meyn MS, Scherer SW, Cohn RD, Marshall CR. Whole Genome Sequencing Expands Diagnostic Utility and Improves Clinical Management in Pediatric Medicine. NPJ Genom Med. 2016 Jan 13; 1. PMID: 28567303.
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    60. Stray-Pedersen A, Cobben JM, Prescott TE, Lee S, Cang C, Aranda K, Ahmed S, Alders M, Gerstner T, Aslaksen K, Tétreault M, Qin W, Hartley T, Jhangiani SN, Muzny DM, Tarailo-Graovac M, van Karnebeek CD, Lupski JR, Ren D, Yoon G. Biallelic Mutations in UNC80 Cause Persistent Hypotonia, Encephalopathy, Growth Retardation, and Severe Intellectual Disability. Am J Hum Genet. 2016 Jan 07; 98(1):202-9. PMID: 26708751.
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    61. Yoon G, Delague V, Mégarbané A, Isaya G. Reply: Autosomal recessive cerebellar ataxia caused by a homozygous mutation in PMPCA. Brain. 2016 Mar; 139(Pt 3):e20. PMID: 26657516.
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    62. Nimmo GA, Guerin A, Badilla-Porras R, Stavropoulos DJ, Yoon G, Carter MT. Triplication of 16p12.1p12.3 associated with developmental and growth delay and distinctive facial features. . 2016 Mar; 170(3):712-6. PMID: 26647099.
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    63. Armour CM, Kersseboom S, Yoon G, Visser TJ. Further Insights into the Allan-Herndon-Dudley Syndrome: Clinical and Functional Characterization of a Novel MCT8 Mutation. PLoS One. 2015; 10(10):e0139343. PMID: 26426690.
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    64. van Minkelen R, Guitart M, Escofet C, Yoon G, Elfferich P, Bolman GM, van der Helm R, van de Graaf R, van den Ouweland AM. Complete APTX deletion in a patient with ataxia with oculomotor apraxia type 1. BMC Med Genet. 2015 Aug 19; 16:61. PMID: 26285866.
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    65. Thiffault I, Wolf NI, Forget D, Guerrero K, Tran LT, Choquet K, Lavallée-Adam M, Poitras C, Brais B, Yoon G, Sztriha L, Webster RI, Timmann D, van de Warrenburg BP, Seeger J, Zimmermann A, Máté A, Goizet C, Fung E, van der Knaap MS, Fribourg S, Vanderver A, Simons C, Taft RJ, Yates JR, Coulombe B, Bernard G. Recessive mutations in POLR1C cause a leukodystrophy by impairing biogenesis of RNA polymerase III. Nat Commun. 2015 Jul 07; 6:7623. PMID: 26151409.
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    66. Lazaropoulos M, Dong Y, Clark E, Greeley NR, Seyer LA, Brigatti KW, Christie C, Perlman SL, Wilmot GR, Gomez CM, Mathews KD, Yoon G, Zesiewicz T, Hoyle C, Subramony SH, Brocht AF, Farmer JM, Wilson RB, Deutsch EC, Lynch DR. Frataxin levels in peripheral tissue in Friedreich ataxia. Ann Clin Transl Neurol. 2015 Aug; 2(8):831-42. PMID: 26339677.
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    67. Jobling RK, Assoum M, Gakh O, Blaser S, Raiman JA, Mignot C, Roze E, Dürr A, Brice A, Lévy N, Prasad C, Paton T, Paterson AD, Roslin NM, Marshall CR, Desvignes JP, Roëckel-Trevisiol N, Scherer SW, Rouleau GA, Mégarbané A, Isaya G, Delague V, Yoon G. PMPCA mutations cause abnormal mitochondrial protein processing in patients with non-progressive cerebellar ataxia. Brain. 2015 Jun; 138(Pt 6):1505-17. PMID: 25808372.
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    68. Mercimek-Mahmutoglu S, Sidky S, Hyland K, Patel J, Donner EJ, Logan W, Mendoza-Londono R, Moharir M, Raiman J, Schulze A, Siriwardena K, Yoon G, Kyriakopoulou L. Prevalence of inherited neurotransmitter disorders in patients with movement disorders and epilepsy: a retrospective cohort study. Orphanet J Rare Dis. 2015 Feb 08; 10:12. PMID: 25758715.
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    69. Banihani R, Smile S, Yoon G, Dupuis A, Mosleh M, Snider A, McAdam L. Cognitive and Neurobehavioral Profile in Boys With Duchenne Muscular Dystrophy. J Child Neurol. 2015 Oct; 30(11):1472-82. PMID: 25660133.
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    70. Trang H, Stanley SY, Thorner P, Faghfoury H, Schulze A, Hawkins C, Pearson CE, Yoon G. Massive CAG repeat expansion and somatic instability in maternally transmitted infantile spinocerebellar ataxia type 7. JAMA Neurol. 2015 Feb; 72(2):219-23. PMID: 25506882.
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    71. Lowe GC, Corben LA, Duncan RE, Yoon G, Delatycki MB. "Both Sides of the Wheelchair": The Views of Individuals with, and Parents of Individuals with Friedreich Ataxia Regarding Pre-symptomatic Testing of Minors. J Genet Couns. 2015 Oct; 24(5):732-43. PMID: 25592143.
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    72. Chénier S, Yoon G, Argiropoulos B, Lauzon J, Laframboise R, Ahn JW, Ogilvie CM, Lionel AC, Marshall CR, Vaags AK, Hashemi B, Boisvert K, Mathonnet G, Tihy F, So J, Scherer SW, Lemyre E, Stavropoulos DJ. CHD2 haploinsufficiency is associated with developmental delay, intellectual disability, epilepsy and neurobehavioural problems. J Neurodev Disord. 2014; 6(1):9. PMID: 24834135.
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    73. Sawyer SL, Schwartzentruber J, Beaulieu CL, Dyment D, Smith A, Warman Chardon J, Yoon G, Rouleau GA, Suchowersky O, Siu V, Murphy L, Hegele RA, Marshall CR, Bulman DE, Majewski J, Tarnopolsky M, Boycott KM. Exome sequencing as a diagnostic tool for pediatric-onset ataxia. Hum Mutat. 2014 Jan; 35(1):45-9. PMID: 24108619.
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    74. Goh ES, Banwell B, Stavropoulos DJ, Shago M, Yoon G. Mosaic microdeletion of 17p11.2-p12 and duplication of 17q22-q24 in a girl with Smith-Magenis phenotype and peripheral neuropathy. . 2014 Mar; 164A(3):748-52. PMID: 24357149.
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    75. Al-Maawali A, Blaser S, Zhao XY, Yoon G. Prospective study of activities of daily living outcomes in children with cerebellar atrophy. Dev Med Child Neurol. 2014 May; 56(5):460-7. PMID: 24116951.
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    76. Al-Maawali AA, Miller E, Schulze A, Yoon G, Blaser SI. Subcutaneous fat pads on body MRI--an early sign of congenital disorder of glycosylation PMM2-CDG (CDG1a). Pediatr Radiol. 2014 Feb; 44(2):222-5. PMID: 24037084.
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    77. Yoon G, Baskin B, Tarnopolsky M, Boycott KM, Geraghty MT, Sell E, Goobie S, Meschino W, Banwell B, Ray PN. Autosomal recessive hereditary spastic paraplegia-clinical and genetic characteristics of a well-defined cohort. Neurogenetics. 2013 Nov; 14(3-4):181-8. PMID: 23733235.
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    78. Kuwaik GA, Saldivar JS, Yoon G. Novel mutation in ARX associated with early hand preference and a mild phenotype. J Dev Behav Pediatr. 2012 Sep; 33(7):586-8. PMID: 22922607.
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    79. Pagnamenta AT, Murray JE, Yoon G, Sadighi Akha E, Harrison V, Bicknell LS, Ajilogba K, Stewart H, Kini U, Taylor JC, Keays DA, Jackson AP, Knight SJ. A novel nonsense CDK5RAP2 mutation in a Somali child with primary microcephaly and sensorineural hearing loss. . 2012 Oct; 158A(10):2577-82. PMID: 22887808.
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    80. Al-Maawali A, Blaser S, Yoon G. Diagnostic approach to childhood-onset cerebellar atrophy: a 10-year retrospective study of 300 patients. J Child Neurol. 2012 Sep; 27(9):1121-32. PMID: 22764178.
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    81. Yoon G, Soman T, Wilson J, George K, Mital S, Dipchand AI, McCabe J, Logan W, Kantor P. Cardiac transplantation in Friedreich ataxia. J Child Neurol. 2012 Sep; 27(9):1193-6. PMID: 22752490.
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    82. Goh ES, Perez IC, Canales CP, Ruiz P, Agatep R, Yoon G, Chitayat D, Dror Y, Shago M, Goobie S, Sgro M, Walz K, Mendoza-Londono R. Definition of a critical genetic interval related to kidney abnormalities in the Potocki-Lupski syndrome. . 2012 Jul; 158A(7):1579-88. PMID: 22639462.
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    83. Al-Zaidy SA, Baskin B, Hawkins C, Yoon G, Ray PN, Vajsar J. Milder phenotype of congenital muscular dystrophy in a novel POMT1 mutation. Muscle Nerve. 2012 May; 45(5):752-5. PMID: 22499106.
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    84. Randolph AG, Vaughn F, Sullivan R, Rubinson L, Thompson BT, Yoon G, Smoot E, Rice TW, Loftis LL, Helfaer M, Doctor A, Paden M, Flori H, Babbitt C, Graciano AL, Gedeit R, Sanders RC, Giuliano JS, Zimmerman J, Uyeki TM. Critically ill children during the 2009-2010 influenza pandemic in the United States. Pediatrics. 2011 Dec; 128(6):e1450-8. PMID: 22065262.
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    85. Mah JK, Selby K, Campbell C, Nadeau A, Tarnopolsky M, McCormick A, Dooley JM, Kolski H, Skalsky AJ, Smith RG, Buckley D, Ray PN, Yoon G. A population-based study of dystrophin mutations in Canada. Can J Neurol Sci. 2011 May; 38(3):465-74. PMID: 21515508.
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    86. Ghai SJ, Shago M, Shroff M, Yoon G. Cockayne syndrome caused by paternally inherited 5 Mb deletion of 10q11.2 and a frameshift mutation of ERCC6. Eur J Med Genet. 2011 May-Jun; 54(3):272-6. PMID: 21376145.
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    87. Al-Maawali A, Rolfs A, Klingenhaeger M, Yoon G. Hereditary spastic paraplegia associated with axonal neuropathy: a novel mutation of SPG3A in a large family. J Clin Neuromuscul Dis. 2011 Mar; 12(3):143-6. PMID: 21321493.
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    88. Chung BH, Stavropoulos J, Marshall CR, Weksberg R, Scherer SW, Yoon G. 2q23 de novo microdeletion involving the MBD5 gene in a patient with developmental delay, postnatal microcephaly and distinct facial features. . 2011 Feb; 155A(2):424-9. PMID: 21271666.
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    89. Mehta AR, Fox SH, Tarnopolsky M, Yoon G. Mitochondrial mimicry of multiple system atrophy of the cerebellar subtype. Mov Disord. 2011 Mar; 26(4):753-5. PMID: 21259344.
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    90. Seemann N, Selby K, McAdam L, Biggar D, Kolski H, Goobie S, Yoon G, Campbell C. Symptomatic dystrophinopathies in female children. Neuromuscul Disord. 2011 Mar; 21(3):172-7. PMID: 21186124.
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    91. Stavropoulos DJ, MacGregor DL, Yoon G. Mosaic microdeletion 18q21 as a cause of mental retardation. Eur J Med Genet. 2010 Nov-Dec; 53(6):396-9. PMID: 20813211.
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    92. Brandsema JF, Stephens D, Hartley J, Yoon G. Intermediate-dose idebenone and quality of life in Friedreich ataxia. Pediatr Neurol. 2010 May; 42(5):338-42. PMID: 20399388.
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    93. Quercia N, Somers GR, Halliday W, Kantor PF, Banwell B, Yoon G. Friedreich ataxia presenting as sudden cardiac death in childhood: clinical, genetic and pathological correlation, with implications for genetic testing and counselling. Neuromuscul Disord. 2010 May; 20(5):340-2. PMID: 20338762.
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    94. Hung RM, Yoon G, Hawkins CE, Halliday W, Biggar D, Vajsar J. Cap myopathy caused by a mutation of the skeletal alpha-actin gene ACTA1. Neuromuscul Disord. 2010 Apr; 20(4):238-40. PMID: 20303757.
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    95. Miller E, Widjaja E, Nilsson D, Yoon G, Banwell B, Blaser S. Magnetic resonance imaging of a unique mutation in a family with Pelizaeus-Merzbacher disease. . 2010 Mar; 152A(3):748-52. PMID: 20186781.
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    96. Hartley J, Westmacott R, Decker J, Shroff M, Yoon G. Childhood-onset CADASIL: clinical, imaging, and neurocognitive features. J Child Neurol. 2010 May; 25(5):623-7. PMID: 20197270.
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    97. Trakadis Y, Blaser S, Hahn CD, Yoon G. A case report of prenatal exposure to rosuvastatin and telmisartan. Paediatr Child Health. 2009 Sep; 14(7):450-2. PMID: 20808473.
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    98. Yoon G, Westmacott R, Macmillan L, Quercia N, Koutsou P, Georghiou A, Christodoulou K, Banwell B. Complete deletion of the aprataxin gene: ataxia with oculomotor apraxia type 1 with severe phenotype and cognitive deficit. BMJ Case Rep. 2009; 2009. PMID: 21686683.
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    99. Guerin AA, Feigenbaum A, Donner EJ, Yoon G. Stepwise developmental regression associated with novel CACNA1A mutation. Pediatr Neurol. 2008 Nov; 39(5):363-4. PMID: 18940563.
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    100. Tsangaris E, Adams SL, Yoon G, Chitayat D, Lansdorp P, Dokal I, Dror Y. Ataxia and pancytopenia caused by a mutation in TINF2. Hum Genet. 2008 Dec; 124(5):507-13. PMID: 18979121.
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    101. Jegatheesan P, Ianus V, Buchh B, Yoon G, Chorne N, Ewig A, Lin E, Fields S, Moon-Grady A, Tacy T, Milstein J, Schreiber M, Padbury J, Clyman R. Increased indomethacin dosing for persistent patent ductus arteriosus in preterm infants: a multicenter, randomized, controlled trial. J Pediatr. 2008 Aug; 153(2):183-9. PMID: 18534218.
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    102. Yoon G, Rosenberg J, Blaser S, Rauen KA. Neurological complications of cardio-facio-cutaneous syndrome. Dev Med Child Neurol. 2007 Dec; 49(12):894-9. PMID: 18039235.
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    103. Yoon G, Beischel LS, Johnson JP, Jones MC. Dizygotic twin pregnancy conceived with assisted reproductive technology associated with chromosomal anomaly, imprinting disorder, and monochorionic placentation. J Pediatr. 2005 Apr; 146(4):565-7. PMID: 15812468.
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    104. Nezarati MM, Loeffler J, Yoon G, MacLaren L, Fung E, Snyder F, Utermann G, Graham GE. Novel mutation in the Delta-sterol reductase gene in three Lebanese sibs with Smith-Lemli-Opitz (RSH) syndrome. Am J Med Genet. 2002 Jun 15; 110(2):103-8. PMID: 12116246.
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    105. Yoon G, Graham G, Weksberg R, Gaul HP, DeBaun MR, Coppes MJ. Neuroblastoma in a patient with the Beckwith-Wiedemann syndrome (BWS). Med Pediatr Oncol. 2002 Mar; 38(3):193-9. PMID: 11836721.
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