El-Hattab AW - Search Results

1

Clinical pertinence metric enables hypothesis-independent genome-phenome analysis for neurologic diagnosis.

Segal MM, Abdellateef M, El-Hattab AW, Hilbush BS, De La Vega FM, Tromp G, Williams MS, Betensky RA, Gleeson J. Segal MM, et al. J Child Neurol. 2015 Jun;30(7):881-8. doi: 10.1177/0883073814545884. Epub 2014 Aug 24. J Child Neurol. 2015. PMID: 25156663 Free PMC article.

2

Constructing and interpreting a large-scale variant effect map for an ultrarare disease gene: Comprehensive prediction of the functional impact of PSAT1 genotypes.

Xie MJ, Cromie GA, Owens K, Timour MS, Tang M, Kutz JN, El-Hattab AW, McLaughlin RN Jr, Dudley AM. Xie MJ, et al. Among authors: el hattab aw. PLoS Genet. 2023 Oct 9;19(10):e1010972. doi: 10.1371/journal.pgen.1010972. eCollection 2023 Oct. PLoS Genet. 2023. PMID: 37812589 Free PMC article.

3

Evidence-based decision support for neurological diagnosis reduces errors and unnecessary workup.

Segal MM, Williams MS, Gropman AL, Torres AR, Forsyth R, Connolly AM, El-Hattab AW, Perlman SJ, Samanta D, Parikh S, Pavlakis SG, Feldman LK, Betensky RA, Gospe SM Jr. Segal MM, et al. J Child Neurol. 2014 Apr;29(4):487-92. doi: 10.1177/0883073813483365. Epub 2013 Apr 10. J Child Neurol. 2014. PMID: 23576414

4

Infantile Serine Biosynthesis Defect Due to Phosphoglycerate Dehydrogenase Deficiency: Variability in Phenotype and Treatment Response, Novel Mutations, and Diagnostic Challenges.

Benke PJ, Hidalgo RJ, Braffman BH, Jans J, Gassen KLIV, Sunbul R, El-Hattab AW. Benke PJ, et al. J Child Neurol. 2017 May;32(6):543-549. doi: 10.1177/0883073817690094. Epub 2017 Jan 31. J Child Neurol. 2017. PMID: 28135894

5

Clinician-centric diagnosis of rare genetic diseases: performance of a gene pertinence metric in decision support for clinicians.

Segal MM, George R, Waltman P, El-Hattab AW, James KN, Stanley V, Gleeson J. Segal MM, et al. Orphanet J Rare Dis. 2020 Jul 22;15(1):191. doi: 10.1186/s13023-020-01461-1. Orphanet J Rare Dis. 2020. PMID: 32698834 Free PMC article.

6

El-Hattab-Alkuraya syndrome caused by biallelic WDR45B pathogenic variants: Further delineation of the phenotype and genotype.

Almannai M, Marafi D, Abdel-Salam GMH, Zaki MS, Duan R, Calame D, Herman I, Levesque F, Elbendary HM, Hegazy I, Chung WK, Kavus H, Saeidi K, Maroofian R, AlHashim A, Al-Otaibi A, Al Madhi A, Abou Al-Seood HM, Alasmari A, Houlden H, Gleeson JG, Hunter JV, Posey JE, Lupski JR, El-Hattab AW. Almannai M, et al. Clin Genet. 2022 May;101(5-6):530-540. doi: 10.1111/cge.14132. Epub 2022 Apr 12. Clin Genet. 2022. PMID: 35322404 Free PMC article.

7

Exome sequencing in mostly consanguineous Arab families with neurologic disease provides a high potential molecular diagnosis rate.

Charng WL, Karaca E, Coban Akdemir Z, Gambin T, Atik MM, Gu S, Posey JE, Jhangiani SN, Muzny DM, Doddapaneni H, Hu J, Boerwinkle E, Gibbs RA, Rosenfeld JA, Cui H, Xia F, Manickam K, Yang Y, Faqeih EA, Al Asmari A, Saleh MA, El-Hattab AW, Lupski JR. Charng WL, et al. BMC Med Genomics. 2016 Jul 19;9(1):42. doi: 10.1186/s12920-016-0208-3. BMC Med Genomics. 2016. PMID: 27435318 Free PMC article.

8

The utility of whole exome sequencing in diagnosing neurological disorders in adults from a highly consanguineous population.

Mu W, Schiess N, Orthmann-Murphy JL, El-Hattab AW. Mu W, et al. J Neurogenet. 2019 Mar;33(1):21-26. doi: 10.1080/01677063.2018.1555249. Epub 2019 Feb 6. J Neurogenet. 2019. PMID: 30724636

9

Inborn errors of metabolism.

El-Hattab AW. El-Hattab AW. Clin Perinatol. 2015 Jun;42(2):413-39, x. doi: 10.1016/j.clp.2015.02.010. Epub 2015 Apr 8. Clin Perinatol. 2015. PMID: 26042912 Review.

10

Chromosomal microarray in a highly consanguineous population: diagnostic yield, utility of regions of homozygosity, and novel mutations.

Alabdullatif MA, Al Dhaibani MA, Khassawneh MY, El-Hattab AW. Alabdullatif MA, et al. Clin Genet. 2017 Apr;91(4):616-622. doi: 10.1111/cge.12872. Epub 2016 Oct 11. Clin Genet. 2017. PMID: 27717089

Save citations to file

Email citations

Send citations to clipboard

Add to Collections

Add to My Bibliography

Create a file for external citation management software

Your saved search

Your RSS Feed

My NCBI Filters

Text availability

Article attribute

Article type

Publication date

125 results

Search Page