Saunders C - Search Results

1

Phenotypic spectrum associated with SPECC1L pathogenic variants: new families and critical review of the nosology of Teebi, Opitz GBBB, and Baraitser-Winter syndromes.

Bhoj EJ, Haye D, Toutain A, Bonneau D, Nielsen IK, Lund IB, Bogaard P, Leenskjold S, Karaer K, Wild KT, Grand KL, Astiazaran MC, Gonzalez-Nieto LA, Carvalho A, Lehalle D, Amudhavalli SM, Repnikova E, Saunders C, Thiffault I, Saadi I, Li D, Hakonarson H, Vial Y, Zackai E, Callier P, Drunat S, Verloes A. Bhoj EJ, et al. Among authors: saunders c. Eur J Med Genet. 2019 Dec;62(12):103588. doi: 10.1016/j.ejmg.2018.11.022. Epub 2018 Nov 22. Eur J Med Genet. 2019. PMID: 30472488 Free PMC article.

2

Loss of function variants in human PNPLA8 encoding calcium-independent phospholipase A2 γ recapitulate the mitochondriopathy of the homologous null mouse.

Saunders CJ, Moon SH, Liu X, Thiffault I, Coffman K, LePichon JB, Taboada E, Smith LD, Farrow EG, Miller N, Gibson M, Patterson M, Kingsmore SF, Gross RW. Saunders CJ, et al. Hum Mutat. 2015 Mar;36(3):301-6. doi: 10.1002/humu.22743. Hum Mutat. 2015. PMID: 25512002 Free PMC article.

3

CLPB variants associated with autosomal-recessive mitochondrial disorder with cataract, neutropenia, epilepsy, and methylglutaconic aciduria.

Saunders C, Smith L, Wibrand F, Ravn K, Bross P, Thiffault I, Christensen M, Atherton A, Farrow E, Miller N, Kingsmore SF, Ostergaard E. Saunders C, et al. Am J Hum Genet. 2015 Feb 5;96(2):258-65. doi: 10.1016/j.ajhg.2014.12.020. Epub 2015 Jan 15. Am J Hum Genet. 2015. PMID: 25597511 Free PMC article.

4

A patient with polymerase E1 deficiency (POLE1): clinical features and overlap with DNA breakage/instability syndromes.

Thiffault I, Saunders C, Jenkins J, Raje N, Canty K, Sharma M, Grote L, Welsh HI, Farrow E, Twist G, Miller N, Zwick D, Zellmer L, Kingsmore SF, Safina NP. Thiffault I, et al. Among authors: saunders c. BMC Med Genet. 2015 May 7;16:31. doi: 10.1186/s12881-015-0177-y. BMC Med Genet. 2015. PMID: 25948378 Free PMC article.

5

PCDH19-related epileptic encephalopathy in a male mosaic for a truncating variant.

Thiffault I, Farrow E, Smith L, Lowry J, Zellmer L, Black B, Abdelmoity A, Miller N, Soden S, Saunders C. Thiffault I, et al. Among authors: saunders c. Am J Med Genet A. 2016 Jun;170(6):1585-9. doi: 10.1002/ajmg.a.37617. Epub 2016 Mar 26. Am J Med Genet A. 2016. PMID: 27016041

6

Neonatal progeriod syndrome associated with biallelic truncating variants in POLR3A.

Jay AM, Conway RL, Thiffault I, Saunders C, Farrow E, Adams J, Toriello HV. Jay AM, et al. Among authors: saunders c. Am J Med Genet A. 2016 Dec;170(12):3343-3346. doi: 10.1002/ajmg.a.37960. Epub 2016 Sep 9. Am J Med Genet A. 2016. PMID: 27612211

7

Functional validation of novel compound heterozygous variants in B3GAT3 resulting in severe osteopenia and fractures: expanding the disease phenotype.

Job F, Mizumoto S, Smith L, Couser N, Brazil A, Saal H, Patterson M, Gibson MI, Soden S, Miller N, Thiffault I, Saunders C, Yamada S, Hoffmann K, Sugahara K, Farrow E. Job F, et al. Among authors: saunders c. BMC Med Genet. 2016 Nov 21;17(1):86. doi: 10.1186/s12881-016-0344-9. BMC Med Genet. 2016. PMID: 27871226 Free PMC article.

8

Immunodeficiency-Associated Lymphoid Hyperplasia As a Cause of Intussusception in a Case of Activated PI3K-δ Syndrome.

Mettman D, Thiffault I, Dinakar C, Saunders C. Mettman D, et al. Among authors: saunders c. Front Pediatr. 2017 Apr 19;5:71. doi: 10.3389/fped.2017.00071. eCollection 2017. Front Pediatr. 2017. PMID: 28469999 Free PMC article.

9

Hypotonia and intellectual disability without dysmorphic features in a patient with PIGN-related disease.

Thiffault I, Zuccarelli B, Welsh H, Yuan X, Farrow E, Zellmer L, Miller N, Soden S, Abdelmoity A, Brodsky RA, Saunders C. Thiffault I, et al. Among authors: saunders c. BMC Med Genet. 2017 Nov 2;18(1):124. doi: 10.1186/s12881-017-0481-9. BMC Med Genet. 2017. PMID: 29096607 Free PMC article.

10

Clinical detection of deletion structural variants in whole-genome sequences.

Noll AC, Miller NA, Smith LD, Yoo B, Fiedler S, Cooley LD, Willig LK, Petrikin JE, Cakici J, Lesko J, Newton A, Detherage K, Thiffault I, Saunders CJ, Farrow EG, Kingsmore SF. Noll AC, et al. Among authors: saunders cj. NPJ Genom Med. 2016 Aug 3;1:16026. doi: 10.1038/npjgenmed.2016.26. eCollection 2016. NPJ Genom Med. 2016. PMID: 29263817 Free PMC article.

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