Cohen JS - Search Results

1

Loss of the sphingolipid desaturase DEGS1 causes hypomyelinating leukodystrophy.

Pant DC, Dorboz I, Schluter A, Fourcade S, Launay N, Joya J, Aguilera-Albesa S, Yoldi ME, Casasnovas C, Willis MJ, Ruiz M, Ville D, Lesca G, Siquier-Pernet K, Desguerre I, Yan H, Wang J, Burmeister M, Brady L, Tarnopolsky M, Cornet C, Rubbini D, Terriente J, James KN, Musaev D, Zaki MS, Patterson MC, Lanpher BC, Klee EW, Pinto E Vairo F, Wohler E, Sobreira NLM, Cohen JS, Maroofian R, Galehdari H, Mazaheri N, Shariati G, Colleaux L, Rodriguez D, Gleeson JG, Pujades C, Fatemi A, Boespflug-Tanguy O, Pujol A. Pant DC, et al. Among authors: cohen js. J Clin Invest. 2019 Mar 1;129(3):1240-1256. doi: 10.1172/JCI123959. Epub 2019 Feb 11. J Clin Invest. 2019. PMID: 30620337 Free PMC article.

2

Deletion 12p12 involving SOX5 in two children with developmental delay and dysmorphic features.

Lee RW, Bodurtha J, Cohen J, Fatemi A, Batista D. Lee RW, et al. Pediatr Neurol. 2013 Apr;48(4):317-20. doi: 10.1016/j.pediatrneurol.2012.12.013. Pediatr Neurol. 2013. PMID: 23498568

3

A novel variant in GABRB2 associated with intellectual disability and epilepsy.

Srivastava S, Cohen J, Pevsner J, Aradhya S, McKnight D, Butler E, Johnston M, Fatemi A. Srivastava S, et al. Am J Med Genet A. 2014 Nov;164A(11):2914-21. doi: 10.1002/ajmg.a.36714. Epub 2014 Aug 13. Am J Med Genet A. 2014. PMID: 25124326 Free PMC article.

4

Clinical whole exome sequencing in child neurology practice.

Srivastava S, Cohen JS, Vernon H, Barañano K, McClellan R, Jamal L, Naidu S, Fatemi A. Srivastava S, et al. Among authors: cohen js. Ann Neurol. 2014 Oct;76(4):473-83. doi: 10.1002/ana.24251. Epub 2014 Aug 30. Ann Neurol. 2014. PMID: 25131622

5

ELP2 is a novel gene implicated in neurodevelopmental disabilities.

Cohen JS, Srivastava S, Farwell KD, Lu HM, Zeng W, Lu H, Chao EC, Fatemi A. Cohen JS, et al. Am J Med Genet A. 2015 Jun;167(6):1391-5. doi: 10.1002/ajmg.a.36935. Epub 2015 Apr 2. Am J Med Genet A. 2015. PMID: 25847581

6

A novel neurodevelopmental disorder associated with compound heterozygous variants in the huntingtin gene.

Rodan LH, Cohen J, Fatemi A, Gillis T, Lucente D, Gusella J, Picker JD. Rodan LH, et al. Eur J Hum Genet. 2016 Dec;24(12):1826-1827. doi: 10.1038/ejhg.2016.74. Epub 2016 Jun 22. Eur J Hum Genet. 2016. PMID: 27329733 Free PMC article.

7

Further evidence that de novo missense and truncating variants in ZBTB18 cause intellectual disability with variable features.

Cohen JS, Srivastava S, Farwell Hagman KD, Shinde DN, Huether R, Darcy D, Wallerstein R, Houge G, Berland S, Monaghan KG, Poretti A, Wilson AL, Chung WK, Fatemi A. Cohen JS, et al. Clin Genet. 2017 May;91(5):697-707. doi: 10.1111/cge.12861. Epub 2016 Oct 10. Clin Genet. 2017. PMID: 27598823

8

Compound Heterozygous Variants in ROBO1 Cause a Neurodevelopmental Disorder With Absence of Transverse Pontine Fibers and Thinning of the Anterior Commissure and Corpus Callosum.

Calloni SF, Cohen JS, Meoded A, Juusola J, Triulzi FM, Huisman TAGM, Poretti A, Fatemi A. Calloni SF, et al. Among authors: cohen js. Pediatr Neurol. 2017 May;70:70-74. doi: 10.1016/j.pediatrneurol.2017.01.018. Epub 2017 Feb 2. Pediatr Neurol. 2017. PMID: 28286008

9

Deficiency of WARS2, encoding mitochondrial tryptophanyl tRNA synthetase, causes severe infantile onset leukoencephalopathy.

Theisen BE, Rumyantseva A, Cohen JS, Alcaraz WA, Shinde DN, Tang S, Srivastava S, Pevsner J, Trifunovic A, Fatemi A. Theisen BE, et al. Among authors: cohen js. Am J Med Genet A. 2017 Sep;173(9):2505-2510. doi: 10.1002/ajmg.a.38339. Epub 2017 Jun 26. Am J Med Genet A. 2017. PMID: 28650581

10

Monogenic disorders that mimic the phenotype of Rett syndrome.

Srivastava S, Desai S, Cohen J, Smith-Hicks C, Barañano K, Fatemi A, Naidu S. Srivastava S, et al. Neurogenetics. 2018 Jan;19(1):41-47. doi: 10.1007/s10048-017-0535-3. Epub 2018 Jan 10. Neurogenetics. 2018. PMID: 29322350 Free PMC article.

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