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Items: 1 to 20 of 75

1.

p21 protein-activated kinase 1 is associated with severe regressive autism, and epilepsy.

Kernohan KD, McBride A, Hartley T, Rojas SK; Care4Rare Canada Consortium, Dyment DA, Boycott KM, Dyack S.

Clin Genet. 2019 Aug 7. doi: 10.1111/cge.13618. [Epub ahead of print]

PMID:
31392718
2.

A Novel Mutation in MARS in a Patient with Charcot-Marie-Tooth Disease, Axonal, Type 2U with Congenital Onset.

Gillespie MK, McMillan HJ, Kernohan KD, Pena IA, Meyer-Schuman R, Antonellis A, Boycott KM; Care4Rare Canada Consortium.

J Neuromuscul Dis. 2019 Jul 22. doi: 10.3233/JND-190404. [Epub ahead of print]

PMID:
31356216
3.

The R941L mutation in MYH14 disrupts mitochondrial fission and associates with peripheral neuropathy.

Almutawa W, Smith C, Sabouny R, Smit RB, Zhao T, Wong R, Lee-Glover L, Desrochers-Goyette J, Ilamathi HS; Care4Rare Canada Consortium, Suchowersky O, Germain M, Mains PE, Parboosingh JS, Pfeffer G, Innes AM, Shutt TE.

EBioMedicine. 2019 Jul;45:379-392. doi: 10.1016/j.ebiom.2019.06.018. Epub 2019 Jun 21.

4.

PDXK mutations cause polyneuropathy responsive to pyridoxal 5'-phosphate supplementation.

Chelban V, Wilson MP, Warman Chardon J, Vandrovcova J, Zanetti MN, Zamba-Papanicolaou E, Efthymiou S, Pope S, Conte MR, Abis G, Liu YT, Tribollet E, Haridy NA, Botía JA, Ryten M, Nicolaou P, Minaidou A, Christodoulou K, Kernohan KD, Eaton A, Osmond M, Ito Y, Bourque P, Jepson JEC, Bello O, Bremner F, Cordivari C, Reilly MM, Foiani M, Heslegrave A, Zetterberg H, Heales SJR, Wood NW, Rothman JE, Boycott KM, Mills PB, Clayton PT, Houlden H; Care4Rare Canada Consortium and the SYNaPS Study Group.

Ann Neurol. 2019 Aug;86(2):225-240. doi: 10.1002/ana.25524. Epub 2019 Jul 1.

PMID:
31187503
5.

Identification of rare-disease genes using blood transcriptome sequencing and large control cohorts.

Frésard L, Smail C, Ferraro NM, Teran NA, Li X, Smith KS, Bonner D, Kernohan KD, Marwaha S, Zappala Z, Balliu B, Davis JR, Liu B, Prybol CJ, Kohler JN, Zastrow DB, Reuter CM, Fisk DG, Grove ME, Davidson JM, Hartley T, Joshi R, Strober BJ, Utiramerur S; Undiagnosed Diseases Network; Care4Rare Canada Consortium, Lind L, Ingelsson E, Battle A, Bejerano G, Bernstein JA, Ashley EA, Boycott KM, Merker JD, Wheeler MT, Montgomery SB.

Nat Med. 2019 Jun;25(6):911-919. doi: 10.1038/s41591-019-0457-8. Epub 2019 Jun 3.

PMID:
31160820
6.

A novel pathogenic variant in TNPO3 in a Hungarian family with limb-girdle muscular dystrophy 1F.

Pál E, Zima J, Hadzsiev K, Ito YA, Hartley T; Care4Rare Canada Consortium, Boycott KM, Melegh B.

Eur J Med Genet. 2019 Jul;62(7):103662. doi: 10.1016/j.ejmg.2019.05.001. Epub 2019 May 6.

PMID:
31071488
7.

Characterization of a Unique Form of Arrhythmic Cardiomyopathy Caused by Recessive Mutation in LEMD2.

Abdelfatah N, Chen R, Duff HJ, Seifer CM, Buffo I, Huculak C, Clarke S, Clegg R, Jassal DS, Gordon PMK, Ober C; Care4Rare Canada Consortium, Frosk P, Gerull B.

JACC Basic Transl Sci. 2019 Apr 29;4(2):204-221. doi: 10.1016/j.jacbts.2018.12.001. eCollection 2019 Apr.

8.

Intrafamilial variability of limb-girdle muscular dystrophy, LGMD1D type.

Zima J, Eaton A, Pál E, Till Á, Ito YA, Warman-Chardon J, Hartley T, Cagnone G, Melegh BI; Care4Rare Canada, Boycott KM, Melegh B, Hadzsiev K.

Eur J Med Genet. 2019 Apr 27. pii: S1769-7212(18)30739-0. doi: 10.1016/j.ejmg.2019.04.012. [Epub ahead of print]

PMID:
31034989
9.

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.

10.

Neu-Laxova syndrome presenting prenatally with increased nuchal translucency and cystic hygroma: The utility of exome sequencing in deciphering the diagnosis.

Bourque DK, Cloutier M, Kernohan KD, Bareke E, Grynspan D, Michaud J; Care4Rare Canada Consortium, Boycott KM.

Am J Med Genet A. 2019 May;179(5):813-816. doi: 10.1002/ajmg.a.61076. Epub 2019 Mar 5.

PMID:
30838783
11.

Clinical delineation of GTPBP2-associated neuro-ectodermal syndrome: Report of two new families and review of the literature.

Carter MT, Venkateswaran S, Shapira-Zaltsberg G, Davila J, Humphreys P; Care4Rare Canada Consortium, Kernohan KD, Boycott KM.

Clin Genet. 2019 May;95(5):601-606. doi: 10.1111/cge.13523. Epub 2019 Mar 19.

PMID:
30790272
12.

NID1 variant associated with occipital cephaloceles in a family expressing a spectrum of phenotypes.

McNiven V, Ito YA, Hartley T, Kernohan K, Miller E; Care4Rare Canada, Armour CM.

Am J Med Genet A. 2019 May;179(5):837-841. doi: 10.1002/ajmg.a.61095. Epub 2019 Feb 17.

PMID:
30773799
13.

PLPHP deficiency: clinical, genetic, biochemical, and mechanistic insights.

Johnstone DL, Al-Shekaili HH, Tarailo-Graovac M, Wolf NI, Ivy AS, Demarest S, Roussel Y, Ciapaite J, van Roermund CWT, Kernohan KD, Kosuta C, Ban K, Ito Y, McBride S, Al-Thihli K, Abdelrahim RA, Koul R, Al Futaisi A, Haaxma CA, Olson H, Sigurdardottir LY, Arnold GL, Gerkes EH, Boon M, Heiner-Fokkema MR, Noble S, Bosma M, Jans J, Koolen DA, Kamsteeg EJ, Drögemöller B, Ross CJ, Majewski J, Cho MT, Begtrup A, Wasserman WW, Bui T, Brimble E, Violante S, Houten SM, Wevers RA, van Faassen M, Kema IP, Lepage N; Care4Rare Canada Consortium, Lines MA, Dyment DA, Wanders RJA, Verhoeven-Duif N, Ekker M, Boycott KM, Friedman JM, Pena IA, van Karnebeek CDM.

Brain. 2019 Mar 1;142(3):542-559. doi: 10.1093/brain/awy346.

PMID:
30668673
14.

Biallelic Loss-of-Function Variants in AIMP1 Cause a Rare Neurodegenerative Disease.

Accogli A, Guerrero K, D'Agostino MD, Tran L, Cieuta-Walti C, Thiffault I, Chénier S, Schwartzentruber J, Majewski J; Care4Rare Canada Consortium, Bernard G.

J Child Neurol. 2019 Feb;34(2):74-80. doi: 10.1177/0883073818811223. Epub 2018 Nov 28.

PMID:
30486714
15.

Biallelic Mutations in LRRC56, Encoding a Protein Associated with Intraflagellar Transport, Cause Mucociliary Clearance and Laterality Defects.

Bonnefoy S, Watson CM, Kernohan KD, Lemos M, Hutchinson S, Poulter JA, Crinnion LA, Berry I, Simmonds J, Vasudevan P, O'Callaghan C, Hirst RA, Rutman A, Huang L, Hartley T, Grynspan D, Moya E, Li C, Carr IM, Bonthron DT, Leroux M; Care4Rare Canada Consortium, Boycott KM, Bastin P, Sheridan EG.

Am J Hum Genet. 2018 Nov 1;103(5):727-739. doi: 10.1016/j.ajhg.2018.10.003.

16.

Mosaic KRAS mutation in a patient with encephalocraniocutaneous lipomatosis and renovascular hypertension.

McDonell LM, Leung GK, Daoud H, Ip J, Chim S, Luk HM, Lan L; Care4Rare Canada Consortium, Boycott KM, Chung BH.

Am J Med Genet A. 2018 Nov;176(11):2523-2527. doi: 10.1002/ajmg.a.40349. Epub 2018 Oct 5. No abstract available.

PMID:
30289595
17.

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
18.

Periodic breathing in patients with NALCN mutations.

Bourque DK, Dyment DA, MacLusky I, Kernohan KD; Care4Rare Canada Consortium, McMillan HJ.

J Hum Genet. 2018 Oct;63(10):1093-1096. doi: 10.1038/s10038-018-0484-1. Epub 2018 Jul 3.

PMID:
29968795
19.

De Novo Truncating Mutations in WASF1 Cause Intellectual Disability with Seizures.

Ito Y, Carss KJ, Duarte ST, Hartley T, Keren B, Kurian MA, Marey I, Charles P, Mendonça C, Nava C, Pfundt R, Sanchis-Juan A, van Bokhoven H, van Essen A, van Ravenswaaij-Arts C; NIHR BioResource; Care4Rare Canada Consortium, Boycott KM, Kernohan KD, Dyack S, Raymond FL.

Am J Hum Genet. 2018 Jul 5;103(1):144-153. doi: 10.1016/j.ajhg.2018.06.001. Epub 2018 Jun 28.

20.

A ZPR1 mutation is associated with a novel syndrome of growth restriction, distinct craniofacial features, alopecia, and hypoplastic kidneys.

Ito YA, Smith AC, Kernohan KD, Pena IA, Ahmed A, McDonell LM, Beaulieu C, Bulman DE, Smidt A, Sawyer SL; Care4Rare Canada Consortium, Dyment DA, Boycott KM, Clericuzio CL.

Clin Genet. 2018 Oct;94(3-4):303-312. doi: 10.1111/cge.13388. Epub 2018 Jun 29.

PMID:
29851065

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