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Items: 30

1.

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.

2.

Biallelic sequence variants in INTS1 in patients with developmental delays, cataracts, and craniofacial anomalies.

Krall M, Htun S, Schnur RE, Brooks AS, Baker L, de Alba Campomanes A, Lamont RE, Gripp KW; Care 4 Rare Canada Consortium, Schneidman-Duhovny D, Innes AM, Mancini GMS, Slavotinek AM.

Eur J Hum Genet. 2019 Apr;27(4):582-593. doi: 10.1038/s41431-018-0298-9. Epub 2019 Jan 8.

PMID:
30622326
3.

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.

PMID:
30473118
4.

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.

PMID:
30244537
5.

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.

PMID:
30089828
6.

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.

PMID:
29247375
7.

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.

PMID:
28726806
8.

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.

PMID:
28371264
9.

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.

PMID:
28170084
10.

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.

11.

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.

PMID:
27965028
12.

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.

13.

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.

PMID:
27684565
14.

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.

PMID:
27671926
15.

The LIM-homeodomain transcription factor Islet2a promotes angioblast migration.

Lamont RE, Wu CY, Ryu JR, Vu W, Davari P, Sobering RE, Kennedy RM, Munsie NM, Childs SJ.

Dev Biol. 2016 Jun 15;414(2):181-92. doi: 10.1016/j.ydbio.2016.04.019. Epub 2016 Apr 25.

16.

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.

17.

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.

PMID:
26691894
18.

Comparative analysis of genes regulated by Dzip1/iguana and hedgehog in zebrafish.

Arnold CR, Lamont RE, Walker JT, Spice PJ, Chan CK, Ho CY, Childs SJ.

Dev Dyn. 2015 Feb;244(2):211-23. doi: 10.1002/dvdy.24237. Epub 2015 Jan 8.

19.

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.

20.

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.

21.

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.

22.

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.

23.

Neuronal expression of class 6 semaphorins in zebrafish.

Ebert AM, Lamont RE, Childs SJ, McFarlane S.

Gene Expr Patterns. 2012 Mar-Apr;12(3-4):117-22. doi: 10.1016/j.gep.2012.01.007. Epub 2012 Feb 6.

PMID:
22330030
24.

Hedgehog signaling via angiopoietin1 is required for developmental vascular stability.

Lamont RE, Vu W, Carter AD, Serluca FC, MacRae CA, Childs SJ.

Mech Dev. 2010 Apr;127(3-4):159-68. doi: 10.1016/j.mod.2010.02.001. Epub 2010 Feb 13.

25.

Mutation of a gene essential for ribosome biogenesis, EMG1, causes Bowen-Conradi syndrome.

Armistead J, Khatkar S, Meyer B, Mark BL, Patel N, Coghlan G, Lamont RE, Liu S, Wiechert J, Cattini PA, Koetter P, Wrogemann K, Greenberg CR, Entian KD, Zelinski T, Triggs-Raine B.

Am J Hum Genet. 2009 Jun;84(6):728-39. doi: 10.1016/j.ajhg.2009.04.017. Epub 2009 May 21.

26.

Antagonistic interactions among Plexins regulate the timing of intersegmental vessel formation.

Lamont RE, Lamont EJ, Childs SJ.

Dev Biol. 2009 Jul 15;331(2):199-209. doi: 10.1016/j.ydbio.2009.04.037. Epub 2009 May 5.

27.

Expression of multiple class three semaphorins in the retina and along the path of zebrafish retinal axons.

Callander DC, Lamont RE, Childs SJ, McFarlane S.

Dev Dyn. 2007 Oct;236(10):2918-24. Erratum in: Dev Dyn. 2008 Mar;237(3):860.

28.

MAPping out arteries and veins.

Lamont RE, Childs S.

Sci STKE. 2006 Oct 3;2006(355):pe39. Review.

PMID:
17018851
29.

Human blood group genes 2004: chromosomal locations and cloning strategies.

Lögdberg L, Reid ME, Lamont RE, Zelinski T.

Transfus Med Rev. 2005 Jan;19(1):45-57. Review.

PMID:
15830327
30.

A locus for Bowen-Conradi syndrome maps to chromosome region 12p13.3.

Lamont RE, Loredo-Osti J, Roslin NM, Mauthe J, Coghlan G, Nylen E, Frappier D, Innes AM, Lemire EG, Lowry RB, Greenberg CR, Triggs-Raine BL, Morgan K, Wrogemann K, Fujiwara TM, Zelinski T.

Am J Med Genet A. 2005 Jan 15;132A(2):136-43.

PMID:
15578624

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