Fedick A - Search Results

1

Mutations in SLC35A3 cause autism spectrum disorder, epilepsy and arthrogryposis.

Edvardson S, Ashikov A, Jalas C, Sturiale L, Shaag A, Fedick A, Treff NR, Garozzo D, Gerardy-Schahn R, Elpeleg O. Edvardson S, et al. Among authors: fedick a. J Med Genet. 2013 Nov;50(11):733-9. doi: 10.1136/jmedgenet-2013-101753. Epub 2013 Sep 12. J Med Genet. 2013. PMID: 24031089

2

Leukoencephalopathy and early death associated with an Ashkenazi-Jewish founder mutation in the Hikeshi gene.

Edvardson S, Kose S, Jalas C, Fattal-Valevski A, Watanabe A, Ogawa Y, Mamada H, Fedick AM, Ben-Shachar S, Treff NR, Shaag A, Bale S, Gärtner J, Imamoto N, Elpeleg O. Edvardson S, et al. Among authors: fedick am. J Med Genet. 2016 Feb;53(2):132-7. doi: 10.1136/jmedgenet-2015-103232. Epub 2015 Nov 6. J Med Genet. 2016. PMID: 26545878

3

Deficiency of the alkaline ceramidase ACER3 manifests in early childhood by progressive leukodystrophy.

Edvardson S, Yi JK, Jalas C, Xu R, Webb BD, Snider J, Fedick A, Kleinman E, Treff NR, Mao C, Elpeleg O. Edvardson S, et al. Among authors: fedick a. J Med Genet. 2016 Jun;53(6):389-96. doi: 10.1136/jmedgenet-2015-103457. Epub 2016 Jan 20. J Med Genet. 2016. PMID: 26792856 Free PMC article.

4

A deleterious mutation in the PEX2 gene causes Zellweger syndrome in individuals of Ashkenazi Jewish descent.

Fedick A, Jalas C, Treff NR. Fedick A, et al. Clin Genet. 2014 Apr;85(4):343-6. doi: 10.1111/cge.12170. Epub 2013 May 3. Clin Genet. 2014. PMID: 23590336

5

Carrier screening of RTEL1 mutations in the Ashkenazi Jewish population.

Fedick AM, Shi L, Jalas C, Treff NR, Ekstein J, Kornreich R, Edelmann L, Mehta L, Savage SA. Fedick AM, et al. Clin Genet. 2015 Aug;88(2):177-81. doi: 10.1111/cge.12459. Epub 2014 Sep 5. Clin Genet. 2015. PMID: 25047097

6

Carrier frequencies of eleven mutations in eight genes associated with primary ciliary dyskinesia in the Ashkenazi Jewish population.

Fedick AM, Jalas C, Treff NR, Knowles MR, Zariwala MA. Fedick AM, et al. Mol Genet Genomic Med. 2015 Mar;3(2):137-42. doi: 10.1002/mgg3.124. Epub 2014 Dec 6. Mol Genet Genomic Med. 2015. PMID: 25802884 Free PMC article.

7

Carrier frequency of two BBS2 mutations in the Ashkenazi population.

Fedick A, Jalas C, Abeliovich D, Krakinovsky Y, Ekstein J, Ekstein A, Treff NR. Fedick A, et al. Clin Genet. 2014 Jun;85(6):578-82. doi: 10.1111/cge.12231. Epub 2013 Jul 28. Clin Genet. 2014. PMID: 23829372

8

A founder mutation in the TCIRG1 gene causes osteopetrosis in the Ashkenazi Jewish population.

Anderson SL, Jalas C, Fedick A, Reid KF, Carpenter TO, Chirnomas D, Treff NR, Ekstein J, Rubin BY. Anderson SL, et al. Among authors: fedick a. Clin Genet. 2015 Jul;88(1):74-9. doi: 10.1111/cge.12448. Epub 2014 Jul 31. Clin Genet. 2015. PMID: 24989235

9

Identification of a novel pathogenic OTOF variant causative of nonsyndromic hearing loss with high frequency in the Ashkenazi Jewish population.

Fedick AM, Jalas C, Swaroop A, Smouha EE, Webb BD. Fedick AM, et al. Appl Clin Genet. 2016 Aug 31;9:141-6. doi: 10.2147/TACG.S113828. eCollection 2016. Appl Clin Genet. 2016. PMID: 27621663 Free PMC article.

10

Lack of association of KATNAL1 gene sequence variants and azoospermia in humans.

Fedick AM, Eckert K, Thompson K, Forman EJ, Devkota B, Treff NR, Taylor D, Scott RT Jr. Fedick AM, et al. J Assist Reprod Genet. 2014 Aug;31(8):1065-71. doi: 10.1007/s10815-014-0269-1. Epub 2014 Jun 10. J Assist Reprod Genet. 2014. PMID: 24913027 Free PMC article.

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