Bulman DE - Search Results

1

Missense mutations in ITPR1 cause autosomal dominant congenital nonprogressive spinocerebellar ataxia.

Huang L, Chardon JW, Carter MT, Friend KL, Dudding TE, Schwartzentruber J, Zou R, Schofield PW, Douglas S, Bulman DE, Boycott KM. Huang L, et al. Among authors: bulman de. Orphanet J Rare Dis. 2012 Sep 17;7:67. doi: 10.1186/1750-1172-7-67. Orphanet J Rare Dis. 2012. PMID: 22986007 Free PMC article.

2

Specific combination of compound heterozygous mutations in 17β-hydroxysteroid dehydrogenase type 4 (HSD17B4) defines a new subtype of D-bifunctional protein deficiency.

McMillan HJ, Worthylake T, Schwartzentruber J, Gottlieb CC, Lawrence SE, Mackenzie A, Beaulieu CL, Mooyer PA; FORGE Canada Consortium; Wanders RJ, Majewski J, Bulman DE, Geraghty MT, Ferdinandusse S, Boycott KM. McMillan HJ, et al. Among authors: bulman de. Orphanet J Rare Dis. 2012 Nov 22;7:90. doi: 10.1186/1750-1172-7-90. Orphanet J Rare Dis. 2012. PMID: 23181892 Free PMC article.

3

Correction to: Missense mutations in ITPR1 cause autosomal dominant congenital nonprogressive spinocerebellar ataxia.

Huang L, Warman-Chardon J, Carter MT, Friend KL, Dudding TE, Schwartzentruber J, Zou R, Schofield PW, Douglas S, Bulman DE, Boycott KM. Huang L, et al. Among authors: bulman de. Orphanet J Rare Dis. 2022 Mar 29;17(1):143. doi: 10.1186/s13023-022-02297-7. Orphanet J Rare Dis. 2022. PMID: 35351177 Free PMC article. No abstract available.

4

Mutations in STAMBP, encoding a deubiquitinating enzyme, cause microcephaly-capillary malformation syndrome.

McDonell LM, Mirzaa GM, Alcantara D, Schwartzentruber J, Carter MT, Lee LJ, Clericuzio CL, Graham JM Jr, Morris-Rosendahl DJ, Polster T, Acsadi G, Townshend S, Williams S, Halbert A, Isidor B, David A, Smyser CD, Paciorkowski AR, Willing M, Woulfe J, Das S, Beaulieu CL, Marcadier J; FORGE Canada Consortium; Geraghty MT, Frey BJ, Majewski J, Bulman DE, Dobyns WB, O'Driscoll M, Boycott KM. McDonell LM, et al. Among authors: bulman de. Nat Genet. 2013 May;45(5):556-62. doi: 10.1038/ng.2602. Epub 2013 Mar 31. Nat Genet. 2013. PMID: 23542699 Free PMC article.

5

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. Beaulieu CL, et al. Among authors: bulman de. Orphanet J Rare Dis. 2013 Apr 26;8:62. doi: 10.1186/1750-1172-8-62. Orphanet J Rare Dis. 2013. PMID: 23621916 Free PMC article.

6

Mutations in PIK3R1 cause SHORT syndrome.

Dyment DA, Smith AC, Alcantara D, Schwartzentruber JA, Basel-Vanagaite L, Curry CJ, Temple IK, Reardon W, Mansour S, Haq MR, Gilbert R, Lehmann OJ, Vanstone MR, Beaulieu CL; FORGE Canada Consortium; Majewski J, Bulman DE, O'Driscoll M, Boycott KM, Innes AM. Dyment DA, et al. Among authors: bulman de. Am J Hum Genet. 2013 Jul 11;93(1):158-66. doi: 10.1016/j.ajhg.2013.06.005. Epub 2013 Jun 27. Am J Hum Genet. 2013. PMID: 23810382 Free PMC article.

7

Compound heterozygous mutations in glycyl-tRNA synthetase are a proposed cause of systemic mitochondrial disease.

McMillan HJ, Schwartzentruber J, Smith A, Lee S, Chakraborty P, Bulman DE, Beaulieu CL, Majewski J, Boycott KM, Geraghty MT. McMillan HJ, et al. Among authors: bulman de. BMC Med Genet. 2014 Mar 26;15:36. doi: 10.1186/1471-2350-15-36. BMC Med Genet. 2014. PMID: 24669931 Free PMC article.

8

Mutations in the enzyme glutathione peroxidase 4 cause Sedaghatian-type spondylometaphyseal dysplasia.

Smith AC, Mears AJ, Bunker R, Ahmed A, MacKenzie M, Schwartzentruber JA, Beaulieu CL, Ferretti E; FORGE Canada Consortium; Majewski J, Bulman DE, Celik FC, Boycott KM, Graham GE. Smith AC, et al. Among authors: bulman de. J Med Genet. 2014 Jul;51(7):470-4. doi: 10.1136/jmedgenet-2013-102218. Epub 2014 Apr 4. J Med Genet. 2014. PMID: 24706940

9

Autosomal recessive axonal polyneuropathy in a sibling pair due to a novel homozygous mutation in IGHMBP2.

Wagner JD, Huang L, Tetreault M, Majewski J, Boycott KM, Bulman DE; Care4Rare Canada Consortium; Dyment DA, McMillan HJ. Wagner JD, et al. Among authors: bulman de. Neuromuscul Disord. 2015 Oct;25(10):794-9. doi: 10.1016/j.nmd.2015.07.017. Epub 2015 Aug 5. Neuromuscul Disord. 2015. PMID: 26298607

10

Syndrome disintegration: Exome sequencing reveals that Fitzsimmons syndrome is a co-occurrence of multiple events.

Armour CM, Smith A, Hartley T, Chardon JW, Sawyer S, Schwartzentruber J, Hennekam R, Majewski J, Bulman DE; FORGE Canada Consortium; Suri M, Boycott KM. Armour CM, et al. Among authors: bulman de. Am J Med Genet A. 2016 Jul;170(7):1820-5. doi: 10.1002/ajmg.a.37684. Epub 2016 May 2. Am J Med Genet A. 2016. PMID: 27133561

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