Sort by
Items per page

Send to

Choose Destination

Search results

Items: 1 to 50 of 70


PISD is a mitochondrial disease gene causing skeletal dysplasia, cataracts, and white matter changes.

Zhao T, Goedhart CM, Sam PN, Sabouny R, Lingrell S, Cornish AJ, Lamont RE, Bernier FP, Sinasac D, Parboosingh JS; Care4Rare Canada Consortium, Vance JE, Claypool SM, Innes AM, Shutt TE.

Life Sci Alliance. 2019 Mar 11;2(2). pii: e201900353. doi: 10.26508/lsa.201900353. Print 2019 Apr.


Effects of Six-Month Aerobic Exercise Intervention on Sleep in Healthy Older Adults in the Brain in Motion Study: A Pilot Study.

Guadagni V, Clark CM, Tyndall A, Raneri JK, Parboosingh JS, Hogan DB, Hanly PJ, Poulin MJ.

J Alzheimers Dis Rep. 2018 Dec 24;2(1):229-238. doi: 10.3233/ADR-180079.


Next-Generation Sequencing Using a Cardiac Gene Panel in Prenatally Diagnosed Cardiac Anomalies.

Lamont RE, Xi Y, Popko C, Lazier J, Bernier FP, Lauzon JL, Innes AM, Parboosingh JS, Thomas MA.

J Obstet Gynaecol Can. 2018 Nov;40(11):1417-1423. doi: 10.1016/j.jogc.2018.02.002.


Is PNPT1-related hearing loss ever non-syndromic? Whole exome sequencing of adult siblings expands the natural history of PNPT1-related disorders.

Eaton A, Bernier FP, Goedhart C, Caluseriu O, Lamont RE, Boycott KM, Parboosingh JS, Innes AM; Care4Rare Canada Consortium.

Am J Med Genet A. 2018 Nov;176(11):2487-2493. doi: 10.1002/ajmg.a.40516. Epub 2018 Sep 23.


Biallelic loss of function variants in COASY cause prenatal onset pontocerebellar hypoplasia, microcephaly, and arthrogryposis.

van Dijk T, Ferdinandusse S, Ruiter JPN, Alders M, Mathijssen IB, Parboosingh JS, Innes AM, Meijers-Heijboer H, Poll-The BT, Bernier FP, Wanders RJA, Lamont RE, Baas F.

Eur J Hum Genet. 2018 Dec;26(12):1752-1758. doi: 10.1038/s41431-018-0233-0. Epub 2018 Aug 8.


Phenotypic spectrum of Au-Kline syndrome: a report of six new cases and review of the literature.

Au PYB, Goedhart C, Ferguson M, Breckpot J, Devriendt K, Wierenga K, Fanning E, Grange DK, Graham GE, Galarreta C, Jones MC, Kini U, Stewart H, Parboosingh JS, Kline AD, Innes AM; Care for Rare Canada Consortium.

Eur J Hum Genet. 2018 Sep;26(9):1272-1281. doi: 10.1038/s41431-018-0187-2. Epub 2018 Jun 14.


A novel mutation in LAMC3 associated with generalized polymicrogyria of the cortex and epilepsy.

Zambonin JL, Dyment DA, Xi Y, Lamont RE, Hartley T, Miller E, Kerr M; Care4Rare Canada Consortium, Boycott KM, Parboosingh JS, Venkateswaran S.

Neurogenetics. 2018 Jan;19(1):61-65. doi: 10.1007/s10048-017-0534-4. Epub 2017 Dec 15.


Cover Image, Volume 173A, Number 10, October 2017.

Bashir RA, Dixit A, Goedhart C, Parboosingh JS, Innes AM; Care for Rare Canada Consortium, Ferreira P, Hasan SU, Au PB.

Am J Med Genet A. 2017 Oct;173(10):i. doi: 10.1002/ajmg.a.38481.


Data sharing as a national quality improvement program: reporting on BRCA1 and BRCA2 variant-interpretation comparisons through the Canadian Open Genetics Repository (COGR).

Lebo MS, Zakoor KR, Chun K, Speevak MD, Waye JS, McCready E, Parboosingh JS, Lamont RE, Feilotter H, Bosdet I, Tucker T, Young S, Karsan A, Charames GS, Agatep R, Spriggs EL, Chisholm C, Vasli N, Daoud H, Jarinova O, Tomaszewski R, Hume S, Taylor S, Akbari MR, Lerner-Ellis J; Canadian Open Genetics Repository Working Group.

Genet Med. 2018 Mar;20(3):294-302. doi: 10.1038/gim.2017.80. Epub 2017 Jul 20.


Whole-exome sequencing is a valuable diagnostic tool for inherited peripheral neuropathies: Outcomes from a cohort of 50 families.

Hartley T, Wagner JD, Warman-Chardon J, Tétreault M, Brady L, Baker S, Tarnopolsky M, Bourque PR, Parboosingh JS, Smith C, McInnes B, Innes AM, Bernier F, Curry CJ, Yoon G, Horvath GA, Bareke E, Gillespie M; FORGE Canada Consortium; Care4Rare Canada Consortium, Majewski J, Bulman DE, Dyment DA, Boycott KM.

Clin Genet. 2018 Feb;93(2):301-309. doi: 10.1111/cge.13101. Epub 2017 Dec 12.


Lin-Gettig syndrome: Craniosynostosis expands the spectrum of the KAT6B related disorders.

Bashir RA, Dixit A, Goedhart C, Parboosingh JS, Innes AM; Care for Rare Canada Consortium, Ferreira P, Hasan SU, Au PB.

Am J Med Genet A. 2017 Oct;173(10):2596-2604. doi: 10.1002/ajmg.a.38355. Epub 2017 Jul 11.


Pathogenicity of two COQ7 mutations and responses to 2,4-dihydroxybenzoate bypass treatment.

Wang Y, Smith C, Parboosingh JS, Khan A, Innes M, Hekimi S.

J Cell Mol Med. 2017 Oct;21(10):2329-2343. doi: 10.1111/jcmm.13154. Epub 2017 Apr 13.


Response to correspondence of NDUFS4-related Leigh syndrome in Hutterites.

Lamont RE, Beaulieu CL, Bernier FP, Sparkes R, Innes AM, Jackel-Cram C, Ober C, Parboosingh JS, Lemire EG.

Am J Med Genet A. 2017 May;173(5):1452. doi: 10.1002/ajmg.a.38227. Epub 2017 Mar 28. No abstract available.


Debunking Occam's razor: Diagnosing multiple genetic diseases in families by whole-exome sequencing.

Balci TB, Hartley T, Xi Y, Dyment DA, Beaulieu CL, Bernier FP, Dupuis L, Horvath GA, Mendoza-Londono R, Prasad C, Richer J, Yang XR, Armour CM, Bareke E, Fernandez BA, McMillan HJ, Lamont RE, Majewski J, Parboosingh JS, Prasad AN, Rupar CA, Schwartzentruber J, Smith AC, Tétreault M; FORGE Canada Consortium; Care4Rare Canada Consortium, Innes AM, Boycott KM.

Clin Genet. 2017 Sep;92(3):281-289. doi: 10.1111/cge.12987. Epub 2017 Mar 13.


Mutations in sphingosine-1-phosphate lyase cause nephrosis with ichthyosis and adrenal insufficiency.

Lovric S, Goncalves S, Gee HY, Oskouian B, Srinivas H, Choi WI, Shril S, Ashraf S, Tan W, Rao J, Airik M, Schapiro D, Braun DA, Sadowski CE, Widmeier E, Jobst-Schwan T, Schmidt JM, Girik V, Capitani G, Suh JH, Lachaussée N, Arrondel C, Patat J, Gribouval O, Furlano M, Boyer O, Schmitt A, Vuiblet V, Hashmi S, Wilcken R, Bernier FP, Innes AM, Parboosingh JS, Lamont RE, Midgley JP, Wright N, Majewski J, Zenker M, Schaefer F, Kuss N, Greil J, Giese T, Schwarz K, Catheline V, Schanze D, Franke I, Sznajer Y, Truant AS, Adams B, Désir J, Biemann R, Pei Y, Ars E, Lloberas N, Madrid A, Dharnidharka VR, Connolly AM, Willing MC, Cooper MA, Lifton RP, Simons M, Riezman H, Antignac C, Saba JD, Hildebrandt F.

J Clin Invest. 2017 Mar 1;127(3):912-928. doi: 10.1172/JCI89626. Epub 2017 Feb 6.


Two De Novo Mutations in an Autistic Child Who Had Previously Undergone Transplantation for Dilated Cardiomyopathy: The Importance of Keeping an Open Mind.

Sajid U, Argiropoulos B, Wei XC, Parboosingh JS, Lamont RE, Khan A, Greenway SC.

Can J Cardiol. 2017 Feb;33(2):292.e5-292.e7. doi: 10.1016/j.cjca.2016.08.019. Epub 2016 Sep 26.


Evidence of association between sleep quality and APOE ε4 in healthy older adults: A pilot study.

Drogos LL, Gill SJ, Tyndall AV, Raneri JK, Parboosingh JS, Naef A, Guild KD, Eskes G, Hanly PJ, Poulin MJ.

Neurology. 2016 Oct 25;87(17):1836-1842.


An Algorithm Measuring Donor Cell-Free DNA in Plasma of Cellular and Solid Organ Transplant Recipients That Does Not Require Donor or Recipient Genotyping.

Gordon PM, Khan A, Sajid U, Chang N, Suresh V, Dimnik L, Lamont RE, Parboosingh JS, Martin SR, Pon RT, Weatherhead J, Wegener S, Isaac D, Greenway SC.

Front Cardiovasc Med. 2016 Sep 22;3:33. eCollection 2016.


Expansion of the GLE1-associated arthrogryposis multiplex congenita clinical spectrum.

Smith C, Parboosingh JS, Boycott KM, Bönnemann CG, Mah JK; Care4Rare Canada Consortium, Lamont RE, Micheil Innes A, Bernier FP.

Clin Genet. 2017 Mar;91(3):426-430. doi: 10.1111/cge.12876. Epub 2017 Jan 30.


A novel NDUFS4 frameshift mutation causes Leigh disease in the Hutterite population.

Lamont RE, Beaulieu CL, Bernier FP, Sparkes R, Innes AM, Jackel-Cram C, Ober C, Parboosingh JS, Lemire EG.

Am J Med Genet A. 2017 Mar;173(3):596-600. doi: 10.1002/ajmg.a.37983. Epub 2016 Sep 27.


Copy-number variations are enriched for neurodevelopmental genes in children with developmental coordination disorder.

Mosca SJ, Langevin LM, Dewey D, Innes AM, Lionel AC, Marshall CC, Scherer SW, Parboosingh JS, Bernier FP.

J Med Genet. 2016 Dec;53(12):812-819. doi: 10.1136/jmedgenet-2016-103818. Epub 2016 Aug 3.


Development of a diagnostic DNA chip to screen for 30 autosomal recessive disorders in the Hutterite population.

Triggs-Raine B, Dyck T, Boycott KM, Innes AM, Ober C, Parboosingh JS, Botkin A, Greenberg CR, Spriggs EL.

Mol Genet Genomic Med. 2016 Jan 19;4(3):312-21. doi: 10.1002/mgg3.206. eCollection 2016 May.


Cardiometabolic risk factors predict cerebrovascular health in older adults: results from the Brain in Motion study.

Tyndall AV, Argourd L, Sajobi TT, Davenport MH, Forbes SC, Gill SJ, Parboosingh JS, Anderson TJ, Wilson BJ, Smith EE, Hogan DB, Hill MD, Poulin MJ.

Physiol Rep. 2016 Apr;4(8). pii: e12733. doi: 10.14814/phy2.12733.


Expansion of phenotype and genotypic data in CRB2-related syndrome.

Lamont RE, Tan WH, Innes AM, Parboosingh JS, Schneidman-Duhovny D, Rajkovic A, Pappas J, Altschwager P, DeWard S, Fulton A, Gray KJ, Krall M, Mehta L, Rodan LH, Saller DN Jr, Steele D, Stein D, Yatsenko SA, Bernier FP, Slavotinek AM.

Eur J Hum Genet. 2016 Oct;24(10):1436-44. doi: 10.1038/ejhg.2016.24. Epub 2016 Mar 23. Review.


A relatively mild skeletal ciliopathy phenotype consistent with cranioectodermal dysplasia is associated with a homozygous nonsynonymous mutation in WDR35.

Smith C, Lamont RE, Wade A, Bernier FP, Parboosingh JS, Innes AM.

Am J Med Genet A. 2016 Mar;170(3):760-5. doi: 10.1002/ajmg.a.37514. Epub 2015 Dec 22.


TAF1 Variants Are Associated with Dysmorphic Features, Intellectual Disability, and Neurological Manifestations.

O'Rawe JA, Wu Y, Dörfel MJ, Rope AF, Au PY, Parboosingh JS, Moon S, Kousi M, Kosma K, Smith CS, Tzetis M, Schuette JL, Hufnagel RB, Prada CE, Martinez F, Orellana C, Crain J, Caro-Llopis A, Oltra S, Monfort S, Jiménez-Barrón LT, Swensen J, Ellingwood S, Smith R, Fang H, Ospina S, Stegmann S, Den Hollander N, Mittelman D, Highnam G, Robison R, Yang E, Faivre L, Roubertie A, Rivière JB, Monaghan KG, Wang K, Davis EE, Katsanis N, Kalscheuer VM, Wang EH, Metcalfe K, Kleefstra T, Innes AM, Kitsiou-Tzeli S, Rosello M, Keegan CE, Lyon GJ.

Am J Hum Genet. 2015 Dec 3;97(6):922-32. doi: 10.1016/j.ajhg.2015.11.005.


Autosomal-Recessive Intellectual Disability with Cerebellar Atrophy Syndrome Caused by Mutation of the Manganese and Zinc Transporter Gene SLC39A8.

Boycott KM, Beaulieu CL, Kernohan KD, Gebril OH, Mhanni A, Chudley AE, Redl D, Qin W, Hampson S, Küry S, Tetreault M, Puffenberger EG, Scott JN, Bezieau S, Reis A, Uebe S, Schumacher J, Hegele RA, McLeod DR, Gálvez-Peralta M, Majewski J, Ramaekers VT; Care4Rare Canada Consortium, Nebert DW, Innes AM, Parboosingh JS, Abou Jamra R.

Am J Hum Genet. 2015 Dec 3;97(6):886-93. doi: 10.1016/j.ajhg.2015.11.002.


RTTN Mutations Cause Primary Microcephaly and Primordial Dwarfism in Humans.

Shamseldin H, Alazami AM, Manning M, Hashem A, Caluseiu O, Tabarki B, Esplin E, Schelley S, Innes AM, Parboosingh JS, Lamont R; Care4Rare Canada Consortium, Majewski J, Bernier FP, Alkuraya FS.

Am J Hum Genet. 2015 Dec 3;97(6):862-8. doi: 10.1016/j.ajhg.2015.10.012. Epub 2015 Nov 19.


Association between Lifetime Physical Activity and Cognitive Functioning in Middle-Aged and Older Community Dwelling Adults: Results from the Brain in Motion Study.

Gill SJ, Friedenreich CM, Sajobi TT, Longman RS, Drogos LL, Davenport MH, Tyndall AV, Eskes GA, Hogan DB, Hill MD, Parboosingh JS, Wilson BJ, Poulin MJ.

J Int Neuropsychol Soc. 2015 Nov;21(10):816-30. doi: 10.1017/S1355617715000880.


Matching two independent cohorts validates DPH1 as a gene responsible for autosomal recessive intellectual disability with short stature, craniofacial, and ectodermal anomalies.

Loucks CM, Parboosingh JS, Shaheen R, Bernier FP, McLeod DR, Seidahmed MZ, Puffenberger EG, Ober C, Hegele RA, Boycott KM, Alkuraya FS, Innes AM.

Hum Mutat. 2015 Oct;36(10):1015-9. doi: 10.1002/humu.22843. Epub 2015 Aug 17.


GeneMatcher aids in the identification of a new malformation syndrome with intellectual disability, unique facial dysmorphisms, and skeletal and connective tissue abnormalities caused by de novo variants in HNRNPK.

Au PYB, You J, Caluseriu O, Schwartzentruber J, Majewski J, Bernier FP, Ferguson M; Care for Rare Canada Consortium, Valle D, Parboosingh JS, Sobreira N, Innes AM, Kline AD.

Hum Mutat. 2015 Oct;36(10):1009-1014. doi: 10.1002/humu.22837. Epub 2015 Aug 6.


An siRNA-based functional genomics screen for the identification of regulators of ciliogenesis and ciliopathy genes.

Wheway G, Schmidts M, Mans DA, Szymanska K, Nguyen TT, Racher H, Phelps IG, Toedt G, Kennedy J, Wunderlich KA, Sorusch N, Abdelhamed ZA, Natarajan S, Herridge W, van Reeuwijk J, Horn N, Boldt K, Parry DA, Letteboer SJF, Roosing S, Adams M, Bell SM, Bond J, Higgins J, Morrison EE, Tomlinson DC, Slaats GG, van Dam TJP, Huang L, Kessler K, Giessl A, Logan CV, Boyle EA, Shendure J, Anazi S, Aldahmesh M, Al Hazzaa S, Hegele RA, Ober C, Frosk P, Mhanni AA, Chodirker BN, Chudley AE, Lamont R, Bernier FP, Beaulieu CL, Gordon P, Pon RT, Donahue C, Barkovich AJ, Wolf L, Toomes C, Thiel CT, Boycott KM, McKibbin M, Inglehearn CF; UK10K Consortium; University of Washington Center for Mendelian Genomics, Stewart F, Omran H, Huynen MA, Sergouniotis PI, Alkuraya FS, Parboosingh JS, Innes AM, Willoughby CE, Giles RH, Webster AR, Ueffing M, Blacque O, Gleeson JG, Wolfrum U, Beales PL, Gibson T, Doherty D, Mitchison HM, Roepman R, Johnson CA.

Nat Cell Biol. 2015 Aug;17(8):1074-1087. doi: 10.1038/ncb3201. Epub 2015 Jul 13.


A peroxisomal disorder of severe intellectual disability, epilepsy, and cataracts due to fatty acyl-CoA reductase 1 deficiency.

Buchert R, Tawamie H, Smith C, Uebe S, Innes AM, Al Hallak B, Ekici AB, Sticht H, Schwarze B, Lamont RE, Parboosingh JS, Bernier FP, Abou Jamra R.

Am J Hum Genet. 2014 Nov 6;95(5):602-10. doi: 10.1016/j.ajhg.2014.10.003. Epub 2014 Oct 30.


Costs and benefits of non-invasive fetal RhD determination.

Teitelbaum L, Metcalfe A, Clarke G, Parboosingh JS, Wilson RD, Johnson JM.

Ultrasound Obstet Gynecol. 2015 Jan;45(1):84-8. doi: 10.1002/uog.14723.


Mutations in LAMA1 cause cerebellar dysplasia and cysts with and without retinal dystrophy.

Aldinger KA, Mosca SJ, Tétreault M, Dempsey JC, Ishak GE, Hartley T, Phelps IG, Lamont RE, O'Day DR, Basel D, Gripp KW, Baker L, Stephan MJ, Bernier FP, Boycott KM, Majewski J; University of Washington Center for Mendelian Genomics; Care4Rare Canada, Parboosingh JS, Innes AM, Doherty D.

Am J Hum Genet. 2014 Aug 7;95(2):227-34. doi: 10.1016/j.ajhg.2014.07.007. Erratum in: Am J Hum Genet. 2014 Oct 2;95(4):472.


Disrupted auto-regulation of the spliceosomal gene SNRPB causes cerebro-costo-mandibular syndrome.

Lynch DC, Revil T, Schwartzentruber J, Bhoj EJ, Innes AM, Lamont RE, Lemire EG, Chodirker BN, Taylor JP, Zackai EH, McLeod DR, Kirk EP, Hoover-Fong J, Fleming L, Savarirayan R; Care4Rare Canada, Majewski J, Jerome-Majewska LA, Parboosingh JS, Bernier FP.

Nat Commun. 2014 Jul 22;5:4483. doi: 10.1038/ncomms5483.


Whole-exome sequencing broadens the phenotypic spectrum of rare pediatric epilepsy: a retrospective study.

Dyment DA, Tétreault M, Beaulieu CL, Hartley T, Ferreira P, Chardon JW, Marcadier J, Sawyer SL, Mosca SJ, Innes AM, Parboosingh JS, Bulman DE, Schwartzentruber J, Majewski J, Tarnopolsky M, Boycott KM; FORGE Canada Consortium; Care4Rare Canada.

Clin Genet. 2015 Jul;88(1):34-40. doi: 10.1111/cge.12464. Epub 2014 Aug 28.


An international effort towards developing standards for best practices in analysis, interpretation and reporting of clinical genome sequencing results in the CLARITY Challenge.

Brownstein CA, Beggs AH, Homer N, Merriman B, Yu TW, Flannery KC, DeChene ET, Towne MC, Savage SK, Price EN, Holm IA, Luquette LJ, Lyon E, Majzoub J, Neupert P, McCallie D Jr, Szolovits P, Willard HF, Mendelsohn NJ, Temme R, Finkel RS, Yum SW, Medne L, Sunyaev SR, Adzhubey I, Cassa CA, de Bakker PI, Duzkale H, Dworzyński P, Fairbrother W, Francioli L, Funke BH, Giovanni MA, Handsaker RE, Lage K, Lebo MS, Lek M, Leshchiner I, MacArthur DG, McLaughlin HM, Murray MF, Pers TH, Polak PP, Raychaudhuri S, Rehm HL, Soemedi R, Stitziel NO, Vestecka S, Supper J, Gugenmus C, Klocke B, Hahn A, Schubach M, Menzel M, Biskup S, Freisinger P, Deng M, Braun M, Perner S, Smith RJ, Andorf JL, Huang J, Ryckman K, Sheffield VC, Stone EM, Bair T, Black-Ziegelbein EA, Braun TA, Darbro B, DeLuca AP, Kolbe DL, Scheetz TE, Shearer AE, Sompallae R, Wang K, Bassuk AG, Edens E, Mathews K, Moore SA, Shchelochkov OA, Trapane P, Bossler A, Campbell CA, Heusel JW, Kwitek A, Maga T, Panzer K, Wassink T, Van Daele D, Azaiez H, Booth K, Meyer N, Segal MM, Williams MS, Tromp G, White P, Corsmeier D, Fitzgerald-Butt S, Herman G, Lamb-Thrush D, McBride KL, Newsom D, Pierson CR, Rakowsky AT, Maver A, Lovrečić L, Palandačić A, Peterlin B, Torkamani A, Wedell A, Huss M, Alexeyenko A, Lindvall JM, Magnusson M, Nilsson D, Stranneheim H, Taylan F, Gilissen C, Hoischen A, van Bon B, Yntema H, Nelen M, Zhang W, Sager J, Zhang L, Blair K, Kural D, Cariaso M, Lennon GG, Javed A, Agrawal S, Ng PC, Sandhu KS, Krishna S, Veeramachaneni V, Isakov O, Halperin E, Friedman E, Shomron N, Glusman G, Roach JC, Caballero J, Cox HC, Mauldin D, Ament SA, Rowen L, Richards DR, San Lucas FA, Gonzalez-Garay ML, Caskey CT, Bai Y, Huang Y, Fang F, Zhang Y, Wang Z, Barrera J, Garcia-Lobo JM, González-Lamuño D, Llorca J, Rodriguez MC, Varela I, Reese MG, De La Vega FM, Kiruluta E, Cargill M, Hart RK, Sorenson JM, Lyon GJ, Stevenson DA, Bray BE, Moore BM, Eilbeck K, Yandell M, Zhao H, Hou L, Chen X, Yan X, Chen M, Li C, Yang C, Gunel M, Li P, Kong Y, Alexander AC, Albertyn ZI, Boycott KM, Bulman DE, Gordon PM, Innes AM, Knoppers BM, Majewski J, Marshall CR, Parboosingh JS, Sawyer SL, Samuels ME, Schwartzentruber J, Kohane IS, Margulies DM.

Genome Biol. 2014 Mar 25;15(3):R53. doi: 10.1186/gb-2014-15-3-r53.


Novel SACS Mutation Deviates from the French Canadian ARSACS Phenotype.

McKenzie ED, Sharma PN, Parboosingh JS; Forge Canada Consortium, Suchowersky O.

Can J Neurol Sci. 2014 Jan;41(1):88-9. No abstract available.


De novo exon 1 missense mutations of SKI and Shprintzen-Goldberg syndrome: two new cases and a clinical review.

Au PY, Racher HE, Graham JM Jr, Kramer N, Lowry RB, Parboosingh JS, Innes AM; FORGE Canada Consortium.

Am J Med Genet A. 2014 Mar;164A(3):676-84. doi: 10.1002/ajmg.a.36340. Epub 2013 Dec 19. Review.


Refinement of the critical region of 1q41q42 microdeletion syndrome identifies FBXO28 as a candidate causative gene for intellectual disability and seizures.

Au PY, Argiropoulos B, Parboosingh JS, Micheil Innes A.

Am J Med Genet A. 2014 Feb;164A(2):441-8. doi: 10.1002/ajmg.a.36320. Epub 2013 Dec 19. Review.


The hutterite variant of Treacher Collins syndrome: a 28-year-old story solved.

Caluseriu O, Lowry BR, McLeod R, Lamont R, Parboosingh JS, Bernier FP, Innes AM.

Am J Med Genet A. 2013 Nov;161A(11):2855-9. doi: 10.1002/ajmg.a.36172. Epub 2013 Sep 24.


VLDLR-Associated Cerebellar Hypoplasia.

Boycott KM, Parboosingh JS.

In: Adam MP, Ardinger HH, Pagon RA, Wallace SE, Bean LJH, Stephens K, Amemiya A, editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993-2019.
2008 Aug 26 [updated 2013 Aug 8].


Possible autosomal recessive inheritance in an infant with acrofacial dysostosis similar to Nager syndrome.

Nur BG, Bernier FP, Oztekin O, Kardelen F, Kalay S, Parboosingh JS, Mihci E.

Am J Med Genet A. 2013 Sep;161A(9):2311-5. doi: 10.1002/ajmg.a.36051. Epub 2013 Aug 2.


Recessive TRAPPC11 mutations cause a disease spectrum of limb girdle muscular dystrophy and myopathy with movement disorder and intellectual disability.

Bögershausen N, Shahrzad N, Chong JX, von Kleist-Retzow JC, Stanga D, Li Y, Bernier FP, Loucks CM, Wirth R, Puffenberger EG, Hegele RA, Schreml J, Lapointe G, Keupp K, Brett CL, Anderson R, Hahn A, Innes AM, Suchowersky O, Mets MB, Nürnberg G, McLeod DR, Thiele H, Waggoner D, Altmüller J, Boycott KM, Schoser B, Nürnberg P, Ober C, Heller R, Parboosingh JS, Wollnik B, Sacher M, Lamont RE.

Am J Hum Genet. 2013 Jul 11;93(1):181-90. doi: 10.1016/j.ajhg.2013.05.028. Epub 2013 Jul 3.


Intellectual disability associated with a homozygous missense mutation in THOC6.

Beaulieu CL, Huang L, Innes AM, Akimenko MA, Puffenberger EG, Schwartz C, Jerry P, Ober C, Hegele RA, McLeod DR, Schwartzentruber J; FORGE Canada Consortium, Majewski J, Bulman DE, Parboosingh JS, Boycott KM.

Orphanet J Rare Dis. 2013 Apr 26;8:62. doi: 10.1186/1750-1172-8-62.


Longer term survival of a child with autosomal recessive cutis laxa due to a mutation in FBLN4.

Sawyer SL, Dicke F, Kirton A, Rajapkse T, Rebeyka IM, McInnes B, Parboosingh JS, Bernier FP.

Am J Med Genet A. 2013 May;161A(5):1148-53. doi: 10.1002/ajmg.a.35827. Epub 2013 Mar 26.


Identification of novel mutations confirms PDE4D as a major gene causing acrodysostosis.

Lynch DC, Dyment DA, Huang L, Nikkel SM, Lacombe D, Campeau PM, Lee B, Bacino CA, Michaud JL, Bernier FP; FORGE Canada Consortium, Parboosingh JS, Innes AM.

Hum Mutat. 2013 Jan;34(1):97-102. doi: 10.1002/humu.22222. Epub 2012 Nov 9. Erratum in: Hum Mutat. 2013 Apr;34(4):667.


Haploinsufficiency of SF3B4, a component of the pre-mRNA spliceosomal complex, causes Nager syndrome.

Bernier FP, Caluseriu O, Ng S, Schwartzentruber J, Buckingham KJ, Innes AM, Jabs EW, Innis JW, Schuette JL, Gorski JL, Byers PH, Andelfinger G, Siu V, Lauzon J, Fernandez BA, McMillin M, Scott RH, Racher H; FORGE Canada Consortium, Majewski J, Nickerson DA, Shendure J, Bamshad MJ, Parboosingh JS.

Am J Hum Genet. 2012 May 4;90(5):925-33. doi: 10.1016/j.ajhg.2012.04.004. Epub 2012 Apr 26.


A shared founder mutation underlies restrictive dermopathy in Old Colony (Dutch-German) Mennonite and Hutterite patients in North America.

Loucks C, Parboosingh JS, Chong JX, Ober C, Siu VM, Hegele RA, Rupar CA, McLeod DR, Pinto A, Chudley AE, Innes AM.

Am J Med Genet A. 2012 May;158A(5):1229-32. doi: 10.1002/ajmg.a.35302. Epub 2012 Apr 11. No abstract available.

Supplemental Content

Loading ...
Support Center