Ganesh J - Search Results

1

Severe combined immunodeficiency resulting from mutations in MTHFD1.

Keller MD, Ganesh J, Heltzer M, Paessler M, Bergqvist AG, Baluarte HJ, Watkins D, Rosenblatt DS, Orange JS. Keller MD, et al. Among authors: ganesh j. Pediatrics. 2013 Feb;131(2):e629-34. doi: 10.1542/peds.2012-0899. Epub 2013 Jan 6. Pediatrics. 2013. PMID: 23296427

2

Novel inborn error of folate metabolism: identification by exome capture and sequencing of mutations in the MTHFD1 gene in a single proband.

Watkins D, Schwartzentruber JA, Ganesh J, Orange JS, Kaplan BS, Nunez LD, Majewski J, Rosenblatt DS. Watkins D, et al. Among authors: ganesh j. J Med Genet. 2011 Sep;48(9):590-2. doi: 10.1136/jmedgenet-2011-100286. Epub 2011 Aug 3. J Med Genet. 2011. PMID: 21813566

3

Two newborns with nutritional vitamin B12 deficiency: challenges in newborn screening for vitamin B12 deficiency.

Campbell CD, Ganesh J, Ficicioglu C. Campbell CD, et al. Among authors: ganesh j. Haematologica. 2005 Dec;90(12 Suppl):ECR45. Haematologica. 2005. PMID: 16464760

4

What new information pediatric autopsies can provide: a retrospective evaluation of 100 consecutive autopsies using family-centered criteria.

Feinstein JA, Ernst LM, Ganesh J, Feudtner C. Feinstein JA, et al. Among authors: ganesh j. Arch Pediatr Adolesc Med. 2007 Dec;161(12):1190-6. doi: 10.1001/archpedi.161.12.1190. Arch Pediatr Adolesc Med. 2007. PMID: 18056565

5

Biallelic disruption of PKDCC is associated with a skeletal disorder characterised by rhizomelic shortening of extremities and dysmorphic features.

Sajan SA, Ganesh J, Shinde DN, Powis Z, Scarano MI, Stone J, Winter S, Tang S. Sajan SA, et al. Among authors: ganesh j. J Med Genet. 2019 Dec;56(12):850-854. doi: 10.1136/jmedgenet-2018-105639. Epub 2018 Nov 26. J Med Genet. 2019. PMID: 30478137

6

Expanded molecular features of carnitine acyl-carnitine translocase (CACT) deficiency by comprehensive molecular analysis.

Wang GL, Wang J, Douglas G, Browning M, Hahn S, Ganesh J, Cox S, Aleck K, Schmitt ES, Zhang W, Wong LJ. Wang GL, et al. Among authors: ganesh j. Mol Genet Metab. 2011 Aug;103(4):349-57. doi: 10.1016/j.ymgme.2011.05.001. Epub 2011 May 7. Mol Genet Metab. 2011. PMID: 21605995

7

A false-positive newborn screening result: goat's milk acidopathy.

Chapman KA, Ganesh J, Ficicioglu C. Chapman KA, et al. Among authors: ganesh j. Pediatrics. 2008 Jul;122(1):210-1; author reply 211. doi: 10.1542/peds.2008-0325. Pediatrics. 2008. PMID: 18596009 No abstract available.

8

Liver pathology in infantile mitochondrial DNA depletion syndrome.

Hazard FK, Ficicioglu CH, Ganesh J, Ruchelli ED. Hazard FK, et al. Among authors: ganesh j. Pediatr Dev Pathol. 2013 Nov-Dec;16(6):415-24. doi: 10.2350/12-07-1229-OA.1. Epub 2013 Sep 19. Pediatr Dev Pathol. 2013. PMID: 24050659

9

Somatic mosaicism for PDHA1 mutation in a male with pyruvate dehydrogenase complex deficiency.

Coughlin CR 2nd, Krantz ID, Schmitt ES, Zhang S, Wong LJ, Kerr DS, Ganesh J. Coughlin CR 2nd, et al. Among authors: ganesh j. Mol Genet Metab. 2010 Jul;100(3):296-9. doi: 10.1016/j.ymgme.2010.04.004. Epub 2010 Apr 14. Mol Genet Metab. 2010. PMID: 20462777

10

Patient care standards for primary mitochondrial disease: a consensus statement from the Mitochondrial Medicine Society.

Parikh S, Goldstein A, Karaa A, Koenig MK, Anselm I, Brunel-Guitton C, Christodoulou J, Cohen BH, Dimmock D, Enns GM, Falk MJ, Feigenbaum A, Frye RE, Ganesh J, Griesemer D, Haas R, Horvath R, Korson M, Kruer MC, Mancuso M, McCormack S, Raboisson MJ, Reimschisel T, Salvarinova R, Saneto RP, Scaglia F, Shoffner J, Stacpoole PW, Sue CM, Tarnopolsky M, Van Karnebeek C, Wolfe LA, Cunningham ZZ, Rahman S, Chinnery PF. Parikh S, et al. Among authors: ganesh j. Genet Med. 2017 Dec;19(12):10.1038/gim.2017.107. doi: 10.1038/gim.2017.107. Epub 2017 Jul 27. Genet Med. 2017. PMID: 28749475 Free PMC article. Review.

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