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2021

Grant P, Langlois S, Lynd LD; GenCOUNSEL Study, Austin JC, Elliott AM. Out-of-pocket and private pay in clinical genetic testing: A scoping review. Clin Genet. 2021 Nov;100(5):504-521. doi: 10.1111/cge.14006.

Pollard S, Weymann D, Dunne J, Mayanloo F, Buckell J, Buchanan J, Wordsworth S, Friedman JM, Stockler-Ipsiroglu S, Dragojlovic N, Elliott AM, Harrison M, Lynd LD, Regier DA. Toward the diagnosis of rare childhood genetic diseases: what do parents value most? Eur J Hum Genet. 2021 Oct;29(10):1491-1501. doi: 10.1038/s41431-021-00882-1.

Lohn Z, Fok A, Richardson M, Derocher H, Mung SW, Nuk J, Yuson J, Jevon M, A Schrader K, Sun S. Large-scale group genetic counseling: Evaluation of a novel service delivery model in a Canadian hereditary cancer clinic. J Genet Couns. 2021 Oct 1. doi: 10.1002/jgc4.1512.

Elliott AM, Scott WJ Jr, Chudley AE, Reed MH, Evans JA. Classifications of split hand foot malformation (SHFM) should include transverse deficiencies: Why Maisels was correct. Am J Med Genet A. 2021 Sep;185(9):2809-2814. doi: 10.1002/ajmg.a.62242.

Enns EA, Wainstein T, Dragojlovic N, Kopac N; GenCOUNSEL Study, Lynd LD, Elliott AM. Far and wide: Exploring provider utilization of remote service provision for genome-wide sequencing in Canada. Mol Genet Genomic Med. 2021 Sep 17:e1784. doi: 10.1002/mgg3.1784.

Borle K, Dey A, Carrion P; GenCOUNSEL Study, Austin J, Elliott AM. Genetic counseling research and COVID-19: A lesson in resiliency. J Genet Couns. 2021 Sep 12. doi: 10.1002/jgc4.1502.

Weymann D, Pollard S, Chan B, Titmuss E, Bohm A, Laskin J, Jones SJM, Pleasance E, Nelson J, Fok A, Lim H, Karsan A, Renouf DJ, Schrader KA, Sun S, Yip S, Schaeffer DF, Marra MA, Regier DA. Clinical and cost outcomes following genomics-informed treatment for advanced cancers. Cancer Med. 2021 Aug;10(15):5131-5140. doi: 10.1002/cam4.4076.

Cook CB, Dragojlovic N, Siemens A, Adam S, du Souich C, van Karnebeek C, Lehman A, Nelson TN, Friedman J; CAUSES Study; GenCOUNSEL Study, Lynd LD, Elliott AM. Integration of genetic counsellors in genomic testing triage: Outcomes of a genomic consultation service in British Columbia, Canada. Eur J Med Genet. 2021 Jul;64(7):104024. doi: 10.1016/j.ejmg.2020.104024.

Dragojlovic N, Kopac N, Borle K, Tandun R, Salmasi S, Ellis U, Birch P, Adam S, Friedman JM; GenCOUNSEL Study, Elliott AM, Lynd LD. Utilization and uptake of clinical genetics services in high-income countries: A scoping review. Health Policy. 2021 Jul;125(7):877-887. doi: 10.1016/j.healthpol.2021.04.010.

Szot JO, Slavotinek A, Chong K, Brandau O, Nezarati M, Cueto-González AM, Patel MS, Devine WP, Rego S, Acyinena AP, Shannon P, Myles-Reid D, Blaser S, Mieghem TV, Yavuz-Kienle H, Skladny H, Miller K, Riera MDT, Martínez SA, Tizzano EF, Dupuis L, James Stavropoulos D, McNiven V, Mendoza-Londono R, Elliott AM; CAUSES Study, Phillips RS, Chapman G, Dunwoodie SL. New cases that expand the genotypic and phenotypic spectrum of Congenital NAD Deficiency Disorder. Hum Mutat. 2021 Jul;42(7):862-876. doi: 10.1002/humu.24211.

Anderson ND, Babichev Y, Fuligni F, Comitani F, Layeghifard M, Venier RE, Dentro SC, Maheshwari A, Guram S, Wunker C, Thompson JD, Yuki KE, Hou H, Zatzman M, Light N, Bernardini MQ, Wunder JS, Andrulis IL, Ferguson P, Razak ARA, Swallow CJ, Dowling JJ, Al-Awar RS, Marcellus R, Rouzbahman M, Gerstung M, Durocher D, Alexandrov LB, Dickson BC, Gladdy RA, Shlien A. Lineage-defined leiomyosarcoma subtypes emerge years before diagnosis and determine patient survival. Nat Commun. 2021 Jul 23;12(1):4496. doi: 10.1038/s41467-021-24677-6.

Elliott AM, Guimond C. Genetic counseling considerations in cerebral palsy. Mol Genet Metab. 2021 Jul 18:S1096-7192(21)00755-1. doi: 10.1016/j.ymgme.2021.07.004.

Hippman C, Slomp C, Morris E, Batallones R, Inglis A, Carrion P, Brain U, Higginson M, Wright GEB, Balneaves LG, Ryan D, Nislow C, Ross CJD, Gaedigk A, Oberlander TF, Austin J. A cross-sectional study of the relationship between CYP2D6 and CYP2C19 variations and depression symptoms, for women taking SSRIs during pregnancy. Arch Womens Ment Health. 2021 Jul 7. doi: 10.1007/s00737-021-01149-w.

Carrion P, Semaka A, Batallones R, Slomp C, Morris E, Inglis A, Moretti M, Austin J. Reflections of parents of children with 22q11.2 Deletion Syndrome on the experience of receiving psychiatric genetic counseling: 'Awareness to Act'. J Genet Couns. 2021 Jul 5. doi: 10.1002/jgc4.1460.

Liang NSY, Adam S, Elliott AM, Siemens A, du Souich C; CAUSES Study; GenCOUNSEL Study, Friedman JM, Birch P. After genomic testing results: Parents' long-term views. J Genet Couns. 2021 Jun 24. doi: 10.1002/jgc4.1454.

Aldridge CE, Osiovich H, Hal Siden H; RAPIDOMICS Study; GenCOUNSEL Study, Elliott AM. Rapid genome-wide sequencing in a neonatal intensive care unit: A retrospective qualitative exploration of parental experiences. J Genet Couns. 2021 Apr;30(2):616-629. doi: 10.1002/jgc4.1353.

Richmond PA, Av-Shalom TV, Fornes O, Modi B, Elliott AM, Wasserman WW. GeneBreaker: Variant simulation to improve the diagnosis of Mendelian rare genetic diseases. Hum Mutat. 2021 Apr;42(4):346-358. doi: 10.1002/humu.24163.

Su JX, Velsher LS, Juusola J, Nezarati MM. MEIS2 sequence variant in a child with intellectual disability and cardiac defects: Expansion of the phenotypic spectrum and documentation of low-level mosaicism in an unaffected parent. Am J Med Genet A. 2021 Jan;185(1):300-303. doi: 10.1002/ajmg.a.61929.

Elliott AM, Dragojlovic N, Campbell T, Adam S, Souich CD, Fryer M, Lehman A, Karnebeek CV, Lynd LD, Friedman JM. Utilization of telehealth in paediatric genome-wide sequencing: Health services implementation issues in the CAUSES Study. J Telemed Telecare. 2021 Jan 20:1357633X20982737. doi: 10.1177/1357633X20982737.

2020

Thibodeau ML, O'Neill K, Dixon K, Reisle C, Mungall KL, Krzywinski M, Shen Y, Lim HJ, Cheng D, Tse K, Wong T, Chuah E, Fok A, Sun S, Renouf D, Schaeffer DF, Cremin C, Chia S, Young S, Pandoh P, Pleasance S, Pleasance E, Mungall AJ, Moore R, Yip S, Karsan A, Laskin J, Marra MA, Schrader KA, Jones SJM. Improved structural variant interpretation for hereditary cancer susceptibility using long-read sequencing. Genet Med. 2020 Nov;22(11):1892-1897. doi: 10.1038/s41436-020-0880-8.

Huang T, Gibbons C, Rashid S, Priston MK, Bedford HM, Mak-Tam E, Meschino WS. Prenatal screening for trisomy 21: a comparative performance and cost analysis of different screening strategies. BMC Pregnancy Childbirth. 2020 Nov 23;20(1):713. doi: 10.1186/s12884-020-03394-w.

Dragojlovic N, Borle K, Kopac N, Ellis U, Birch P, Adam S, Friedman JM, Nisselle A; GenCOUNSEL Study, Elliott AM, Lynd LD. The composition and capacity of the clinical genetics workforce in high-income countries: a scoping review. Genet Med. 2020 Sep;22(9):1437-1449. doi: 10.1038/s41436-020-0825-2.

Maurer LM, Venier RE, Mukherjee E, Julian CM, Daley JD, Bailey NG, Jacobs MF, Kumar-Sinha C, Raphel H, Weiss K, Janeway KA, Mody R, Lucas PC, McAllister-Lucas LM, Bailey KM. PARP inhibition in Ewing sarcoma: impact of germline DNA damage repair defects and activation of immunoregulatory pathways. bioRxiv 2020.09.18.304238; doi.org/10.1101/2020.09.18.304238.

Cassetta BD, Menon M, Carrion PB, Pearce H, DeGraaf A, Leonova O, White RF, Stowe RM, Honer WG, Woodward TS, Torres IJ. Preliminary examination of the validity of the NIH toolbox cognition battery in treatment-resistant psychosis. Clin Neuropsychol. 2020 Jul;34(5):981-1003. doi: 10.1080/13854046.2019.1694072.

Hitchcock EC, Study C, Elliott AM. Shortened consent forms for genome-wide sequencing: Parent and provider perspectives. Mol Genet Genomic Med. 2020 Jul;8(7):e1254. doi: 10.1002/mgg3.1254.

Pleasance, E., Titmuss, E., Williamson, L. et al. Pan-cancer analysis of advanced patient tumors reveals interactions between therapy and genomic landscapes. Nat Cancer 1, 452–468 (2020). doi: 10.1038/s43018-020-0050-6.

Cho RY, Peñaherrera MS, Du Souich C, Huang L, Mwenifumbo J, Nelson TN, Elliott AM, Adam S; CAUSES Study, Eydoux P, Yang GX, Chijiwa C, Van Allen MI, Friedman JM, Robinson WP, Lehman A. Renpenning syndrome in a female. Am J Med Genet A. 2020 Mar;182(3):498-503. doi: 10.1002/ajmg.a.61451.

2019

Marshall DA, MacDonald KV, Heidenreich S, Hartley T, Bernier FP, Gillespie MK, McInnes B, Innes AM, Armour CM, Boycott KM. The value of diagnostic testing for parents of children with rare genetic diseases. Genet Med. 2019 Dec;21(12):2798-2806. doi: 10.1038/s41436-019-0583-1.

Thain E, Shuman C, Miller K, Sappleton K, Myles-Reid D, Chitayat D, Gibbons C. Prenatal and preconception genetic counseling for consanguinity: Consanguineous couples' expectations, experiences, and perspectives. J Genet Couns. 2019 Oct;28(5):982-992. doi: 10.1002/jgc4.1150.

Morris E, Slomp C, Hippman C, Inglis A, Carrion P, Batallones R, Andrighetti H, Austin J. A Matched Cohort Study of Postpartum Placentophagy in Women With a History of Mood Disorders: No Evidence for Impact on Mood, Energy, Vitamin B12 Levels, or Lactation. J Obstet Gynaecol Can. 2019 Sep;41(9):1330-1337. doi: 10.1016/j.jogc.2019.02.004.

Venier RE, Maurer LM, Kessler EM, Ranganathan S, McGough RL, Weiss KR, Malek MM, Meade J, Tersak JM, Bailey KM. A germline BARD1 mutation in a patient with Ewing Sarcoma: Implications for familial testing and counseling. Pediatr Blood Cancer. 2019 Sep;66(9):e27824. doi: 10.1002/pbc.27824.

Gillespie MK, McMillan HJ, Kernohan KD, Pena IA, Meyer-Schuman R; Care4Rare Canada Consortium, Antonellis A, Boycott KM. A Novel Mutation in MARS in a Patient with Charcot-Marie-Tooth Disease, Axonal, Type 2U with Congenital Onset. J Neuromuscul Dis. 2019;6(3):333-339. doi: 10.3233/JND-190404.

Hippman C, Nislow C. Pharmacogenomic Testing: Clinical Evidence and Implementation Challenges. J Pers Med. 2019 Aug 7;9(3):40. doi: 10.3390/jpm9030040.

Kotsopoulos J, Lubinski J, Lynch HT, Tung N, Armel S, Senter L, Singer CF, Fruscio R, Couch F, Weitzel JN, Karlan B, Foulkes WD, Moller P, Eisen A, Ainsworth P, Neuhausen SL, Olopade O, Sun P, Gronwald J, Narod SA; Hereditary Breast Cancer Clinical Study Group. Oophorectomy and risk of contralateral breast cancer among BRCA1 and BRCA2 mutation carriers. Breast Cancer Res Treat. 2019 Jun;175(2):443-449. doi: 10.1007/s10549-019-05162-7.

Cloutier M, Hathaway J, Vanneste R, Hodges PD, Sillon G. Lexigene®: An online medical genetics translation tool to facilitate communication. J Genet Couns. 2019 Jun;28(3):717-721. doi: 10.1002/jgc4.1099.

Marshall DA, Benchimol EI, MacKenzie A, Duque DR, MacDonald KV, Hartley T, Howley H, Hamilton A, Gillespie M, Malam F, Boycott KM. Direct health-care costs for children diagnosed with genetic diseases are significantly higher than for children with other chronic diseases. Genet Med. 2019 May;21(5):1049-1057. doi: 10.1038/s41436-018-0289-9.

McCuaig JM, Tone AA, Maganti M, Romagnuolo T, Ricker N, Shuldiner J, Rodin G, Stockley T, Kim RH, Bernardini MQ. Modified panel-based genetic counseling for ovarian cancer susceptibility: A randomized non-inferiority study. Gynecol Oncol. 2019 Apr;153(1):108-115. doi: 10.1016/j.ygyno.2018.12.027.

Di Gioacchino V, Langlois S, Elliott AM. Canadian genetic healthcare professionals' attitudes towards discussing private pay options with patients. Mol Genet Genomic Med. 2019 Apr;7(4):e00572. doi: 10.1002/mgg3.572.

Aref-Eshghi E, Bend EG, Colaiacovo S, Caudle M, Chakrabarti R, Napier M, Brick L, Brady L, Carere DA, Levy MA, Kerkhof J, Stuart A, Saleh M, Beaudet AL, Li C, Kozenko M, Karp N, Prasad C, Siu VM, Tarnopolsky MA, Ainsworth PJ, Lin H, Rodenhiser DI, Krantz ID, Deardorff MA, Schwartz CE, Sadikovic B. Diagnostic Utility of Genome-wide DNA Methylation Testing in Genetically Unsolved Individuals with Suspected Hereditary Conditions. Am J Hum Genet. 2019 Apr 4;104(4):685-700. doi: 10.1016/j.ajhg.2019.03.008.

Bombard Y, Brothers KB, Fitzgerald-Butt S, Garrison NA, Jamal L, James CA, Jarvik GP, McCormick JB, Nelson TN, Ormond KE, Rehm HL, Richer J, Souzeau E, Vassy JL, Wagner JK, Levy HP. The Responsibility to Recontact Research Participants after Reinterpretation of Genetic and Genomic Research Results. Am J Hum Genet. 2019 Apr 4;104(4):578-595. doi: 10.1016/j.ajhg.2019.02.025.

Boycott KM, Hartley T, Biesecker LG, Gibbs RA, Innes AM, Riess O, Belmont J, Dunwoodie SL, Jojic N, Lassmann T, Mackay D, Temple IK, Visel A, Baynam G. A Diagnosis for All Rare Genetic Diseases: The Horizon and the Next Frontiers. Cell. 2019 Mar 21;177(1):32-37. doi: 10.1016/j.cell.2019.02.040.

2018

Borle K, Morris E, Inglis A, Austin J. Risk communication in genetic counseling: Exploring uptake and perception of recurrence numbers, and their impact on patient outcomes. Clin Genet. 2018 Aug;94(2):239-245. doi: 10.1111/cge.13379.

Kumar R, Gardner A, Homan CC, Douglas E, Mefford H, Wieczorek D, Lüdecke HJ, Stark Z, Sadedin S; Broad CMG, Nowak CB, Douglas J, Parsons G, Mark P, Loidi L, Herman GE, Mihalic Mosher T, Gillespie MK, Brady L, Tarnopolsky M, Madrigal I, Eiris J, Domènech Salgado L, Rabionet R, Strom TM, Ishihara N, Inagaki H, Kurahashi H, Dudding-Byth T, Palmer EE, Field M, Gecz J. Severe neurocognitive and growth disorders due to variation in THOC2, an essential component of nuclear mRNA export machinery. Hum Mutat. 2018 Aug;39(8):1126-1138. doi: 10.1002/humu.23557.

McKinnon T, Venier R, Yohe M, Sindiri S, Gryder BE, Shern JF, Kabaroff L, Dickson B, Schleicher K, Chouinard-Pelletier G, Menezes S, Gupta A, Zhang X, Guha R, Ferrer M, Thomas CJ, Wei Y, Davani D, Guidos CJ, Khan J, Gladdy RA. Functional screening of FGFR4-driven tumorigenesis identifies PI3K/mTOR inhibition as a therapeutic strategy in rhabdomyosarcoma. Oncogene. 2018 May;37(20):2630-2644. doi: 10.1038/s41388-017-0122-y.

Gillespie MK, Humphreys P, McMillan HJ, Boycott KM. Association of Early-Onset Spasticity and Risk for Cognitive Impairment With Mutations at Amino Acid 499 in SPAST. J Child Neurol. 2018 Apr;33(5):329-332. doi: 10.1177/0883073818756680.

Jarrett P, Easton A, Rockwood K, Dyack S, McCollum A, Siu V, Mirsattari SM, Massot-Tarrús A, Beis MJ, D'Souza N, Darvesh S. Evidence for Cholinergic Dysfunction in Autosomal Dominant Kufs Disease. Can J Neurol Sci. 2018 Mar;45(2):150-157. doi: 10.1017/cjn.2017.261.

2017

Malam F, Hartley T, Gillespie MK, Armour CM, Bariciak E, Graham GE, Nikkel SM, Richer J, Sawyer SL, Boycott KM, Dyment DA. Benchmarking outcomes in the Neonatal Intensive Care Unit: Cytogenetic and molecular diagnostic rates in a retrospective cohort. Am J Med Genet A. 2017 Jul;173(7):1839-1847. doi: 10.1002/ajmg.a.38250.

Hooper AWM, Alamilla JF, Venier RE, Gillespie DC, Igdoura SA. Neuronal pentraxin 1 depletion delays neurodegeneration and extends life in Sandhoff disease mice. Hum Mol Genet. 2017 Feb 15;26(4):661-673. doi: 10.1093/hmg/ddw422.

Babichev Y, Kabaroff L, Datti A, Uehling D, Isaac M, Al-Awar R, Prakesch M, Sun RX, Boutros PC, Venier R, Dickson BC, Gladdy RA. PI3K/AKT/mTOR inhibition in combination with doxorubicin is an effective therapy for leiomyosarcoma. J Transl Med. 2016 Mar 8;14:67. doi: 10.1186/s12967-016-0814-z.

McKinnon T, Venier R, Dickson BC, Kabaroff L, Alkema M, Chen L, Shern JF, Yohe ME, Khan J, Gladdy RA. Kras activation in p53-deficient myoblasts results in high-grade sarcoma formation with impaired myogenic differentiation. Oncotarget. 2015 Jun 10;6(16):14220-32. doi: 10.18632/oncotarget.3856.

Venier RE, Igdoura SA. Miglustat as a therapeutic agent: prospects and caveats. J Med Genet. 2012 Sep;49(9):591-7. doi: 10.1136/jmedgenet-2012-101070.