Jawid M. Fatih

ScholarGPS® ID: 86563611864112

Affiliation
Baylor College of Medicine, Houston, United States
Affiliation History

Field
Life Sciences
Discipline
Genetics
Top Specialties
Medical Genetics | Epilepsy
Metrics Summary
Publication Count
16
Predicted Citations
312
Predicted h-index
7
Ranking

Publications and Citation History

Publications based on Top Specialties

Types of Publication

  • Publications
  • Books
  • Patents
  • NIH/NSF
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NODAL variants are associated with a continuum of laterality defects from simple D-transposition of the great arteries to heterotaxy (journal article)
Dardas, Zain | Fatih, Jawid M. | Jolly, Angad | Dawood, Moez | Du, Haowei | Grochowski, Christopher M. | Jones, Edward G. | Jhangiani, Shalini N. | Wehrens, Xander H. T. | Liu, Pengfei | ... | Morris, Shaine A.
Genome Medicine, volume 16, issue 1 (2024).
10.1186/s13073-024-01312-9
Cite | Source
De novo variants in EMC1 lead to neurodevelopmental delay and cerebellar degeneration and affect glial function in Drosophila (journal article)
Chung, Hyung-Lok | Rump, Patrick | Lu, Di | Glassford, Megan R | Mok, Jung-Wan | Fatih, Jawid | Basal, Adily | Marcogliese, Paul C | Kanca, Oguz | Rapp, Michele | ... | Harel, Tamar
Human Molecular Genetics, volume 31, issue 19, pages 3231-3244 (2022).
10.1093/hmg/ddac053
Cited by (8) | Cite | Source
Novel RETREG1 ( FAM134B) founder allele is linked to HSAN2B and renal disease in a Turkish family (journal article)
Taşdelen, Elifcan | Calame, Daniel G. | Akay, Gulsen | Mitani, Tadahiro | Fatih, Jawid M. | Herman, Isabella | Du, Haowei | Coban‐Akdemir, Zeynep | Marafi, Dana | Jhangiani, Shalini N. | ... | Pehlivan, Davut
American Journal of Medical Genetics Part A, volume 188, issue 7, pages 2153-2161 (2022).
10.1002/ajmg.a.62727
Cited by (4) | Cite | Source
Niacin therapy improves outcome and normalizes metabolic abnormalities in an NAXD-deficient patient (journal article)
Manor, Joshua | Calame, Daniel G. | Gijavanekar, Charul | Tran, Alyssa | Fatih, Jawid M. | Lalani, Seema R. | Mizerik, Elizabeth | Parnes, Mered | Mehta, Vidya P. | Adesina, Adekunle M. | ... | Elsea, Sarah H.
Brain, volume 145, issue 5, pages e36-e40 (2022).
10.1093/brain/awac065
Cited by (7) | Cite | Source
Quantitative dissection of multilocus pathogenic variation in an Egyptian infant with severe neurodevelopmental disorder resulting from multiple molecular diagnoses (journal article)
Herman, Isabella | Jolly, Angad | Du, Haowei | Dawood, Moez | Abdel‐Salam, Ghada M. H. | Marafi, Dana | Mitani, Tadahiro | Calame, Daniel G. | Coban‐Akdemir, Zeynep | Fatih, Jawid M. | ... | Lupski, James R.
American Journal of Medical Genetics Part A, volume 188, issue 3, pages 735-750 (2022).
10.1002/ajmg.a.62565
Cited by (13) | Cite | Source
Biallelic loss-of-function variants in the splicing regulator NSRP1 cause a severe neurodevelopmental disorder with spastic cerebral palsy and epilepsy (journal article)
Calame, Daniel G. | Bakhtiari, Somayeh | Logan, Rachel | Coban-Akdemir, Zeynep | Du, Haowei | Mitani, Tadahiro | Fatih, Jawid M. | Hunter, Jill V. | Herman, Isabella | Pehlivan, Davut | ... | Lupski, James R.
Genetics in Medicine, volume 23, issue 12, pages 2455-2460 (2021).
10.1038/s41436-021-01291-x
Cited by (8) | Cite | Source
Deep clinicopathological phenotyping identifies a previously unrecognized pathogenic EMD splice variant (journal article)
Calame, Daniel G. | Fatih, Jawid M. | Herman, Isabella | Coban‐Akdemir, Zeynep | Du, Haowei | Mitani, Tadahiro | Jhangiani, Shalini N. | Marafi, Dana | Gibbs, Richard A. | Posey, Jennifer E. | ... | Lupski, James R.
Annals of Clinical and Translational Neurology, volume 8, issue 10, pages 2052-2058 (2021).
10.1002/acn3.51454
Cited by (1) | Cite | Source
Risk of sudden cardiac death in EXOSC5 ‐related disease (journal article)
Calame, Daniel G. | Herman, Isabella | Fatih, Jawid M. | Du, Haowei | Akay, Gulsen | Jhangiani, Shalini N. | Coban‐Akdemir, Zeynep | Milewicz, Dianna M. | Gibbs, Richard A. | Posey, Jennifer E. | ... | Miyake, Christina Y.
American Journal of Medical Genetics Part A, volume 185, issue 8, pages 2532-2540 (2021).
10.1002/ajmg.a.62352
Cited by (7) | Cite | Source
Two novel bi‐allelic KDELR2 missense variants cause osteogenesis imperfecta with neurodevelopmental features (journal article)
Efthymiou, Stephanie | Herman, Isabella | Rahman, Fatima | Anwar, Najwa | Maroofian, Reza | Yip, Janice | Mitani, Tadahiro | Calame, Daniel G. | Hunter, Jill V. | Sutton, V. Reid | ... | Houlden, Henry
American Journal of Medical Genetics Part A, volume 185, issue 7, pages 2241-2249 (2021).
10.1002/ajmg.a.62221
Cited by (5) | Cite | Source
A novel homozygous SLC13A5 whole‐gene deletion generated by Alu/Alu ‐mediated rearrangement in an Iraqi family with epileptic encephalopathy (journal article)
Duan, Ruizhi | Saadi, Nebal Waill | Grochowski, Christopher M. | Bhadila, Ghalia | Faridoun, Afnan | Mitani, Tadahiro | Du, Haowei | Fatih, Jawid M. | Jhangiani, Shalini N. | Akdemir, Zeynep C. | ... | Lupski, James R.
American Journal of Medical Genetics Part A, volume 185, issue 7, pages 1972-1980 (2021).
10.1002/ajmg.a.62192
Cited by (14) | Cite | Source
Biallelic Pathogenic Variants in TNNT3 Associated With Congenital Myopathy (journal article)
Calame, Daniel G. | Fatih, Jawid | Herman, Isabella | Akdemir, Zeynep Coban | Du, Haowei | Jhangiani, Shalini N. | Gibbs, Richard A. | Marafi, Dana | Pehlivan, Davut | Posey, Jennifer E. | ... | Lupski, James R.
Neurology Genetics, volume 7, issue 3 (2021).
10.1212/NXG.0000000000000589
Cited by (7) | Cite | Source
Bi-allelic loss-of-function variants in the splicing regulator NSRP1 cause a severe neurodevelopmental disorder with epilepsy (4453) (journal article)
Calame, Daniel | Bakhtiari, Somayeh | Mitani, Tadahiro | Fatih, Jawid | Logan, Rachel | Hunter, Jill | Herman, Isabella | Pehlivan, Davut | Posey, Jennifer | Zaki, Maha | ... | Lupski, James
Neurology, volume 96, issue 15_supplement (2021).
10.1212/WNL.96.15_supplement.4453
Cite | Source
Neurodevelopmental disorder in an Egyptian family with a biallelic ALKBH8 variant (journal article)
Saad, Ahmed K. | Marafi, Dana | Mitani, Tadahiro | Du, Haowei | Rafat, Karima | Fatih, Jawid M. | Jhangiani, Shalini N. | Coban‐Akdemir, Zeynep | Gibbs, Richard A. | Pehlivan, Davut | ... | Lupski, James R.
American Journal of Medical Genetics Part A, volume 185, issue 4, pages 1288-1293 (2021).
10.1002/ajmg.a.62100
Cited by (11) | Cite | Source
Biallelic GRM7 variants cause epilepsy, microcephaly, and cerebral atrophy (journal article)
Marafi, Dana | Mitani, Tadahiro | Isikay, Sedat | Hertecant, Jozef | Almannai, Mohammed | Manickam, Kandamurugu | Abou Jamra, Rami | El‐Hattab, Ayman W. | Rajah, Jaishen | Fatih, Jawid M. | ... | Lupski, James R.
Annals of Clinical and Translational Neurology, volume 7, issue 5, pages 610-627 (2020).
10.1002/acn3.51003
Cited by (14) | Cite | Source
Biallelic CACNA2D2 variants in epileptic encephalopathy and cerebellar atrophy (journal article)
Punetha, Jaya | Karaca, Ender | Gezdirici, Alper | Lamont, Ryan E. | Pehlivan, Davut | Marafi, Dana | Appendino, Juan P. | Hunter, Jill V. | Akdemir, Zeynep C. | Fatih, Jawid M. | ... | Lupski, James R.
Annals of Clinical and Translational Neurology, volume 6, issue 8, pages 1395-1406 (2019).
10.1002/acn3.50824
Cited by (19) | Cite | Source
Exome sequencing reveals novel candidate genes and potential oligogenic inheritance in patients with the complex trait arthrogryposis (P2.4-041) (journal article)
Pehlivan, Davut | Bayram, Yavuz | Akdemir, Zeynep Coban | Fatih, Jawid | Gibbs, Richard | Posey, Jennifer | Elcioglu, Nursel | Tuysuz, Beyhan | Lupski, James
Neurology, volume 92, issue 15_supplement (2019).
10.1212/WNL.92.15_supplement.P2.4-041
Cite | Source
Identifying Genes Whose Mutant Transcripts Cause Dominant Disease Traits by Potential Gain-of-Function Alleles (journal article)
Coban-Akdemir, Zeynep | White, Janson J. | Song, Xiaofei | Jhangiani, Shalini N. | Fatih, Jawid M. | Gambin, Tomasz | Bayram, Yavuz | Chinn, Ivan K. | Karaca, Ender | Punetha, Jaya | ... | Carvalho, Claudia M.B.
The American Journal of Human Genetics, volume 103, issue 2, pages 171-187 (2018).
10.1016/j.ajhg.2018.06.009
Cited by (145) | Cite | Source