Dana Marafi

ScholarGPS® ID: 38054684256203

Affiliation

Baylor College of Medicine, Houston, United States

Affiliation History

Field

Medicine

Discipline

Neurology

Top Specialties

Medical Genetics | Epilepsy | Neurodevelopmental Disorder

Metrics Summary

Publication Count

Predicted Citations

216

Predicted h-index

Ranking

Publications and Citation History

Publications based on Top Specialties

Types of Publication

Publications
Books
Patents
NIH/NSF

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Novel LSS variants in alopecia and intellectual disability syndrome: New case report and clinical spectrum of LSS ‐related rare disease traits (journal article) Elbendary, Hasnaa M. \| Marafi, Dana \| Saad, Ahmed K. \| Elhossini, Rasha \| Duan, Ruizhi \| Rafat, Karima \| Jhangiani, Shalini N. \| Gibbs, Richard A. \| Pehlivan, Davut \| Calame, Daniel G. \| ... \| Zaki, Maha S. Clinical Genetics, volume 104, issue 3, pages 344-349 (2023). 10.1111/cge.14348 Cited by (1) \| Cite \| Source
De novo heterozygous variants in SLC30A7 are a candidate cause for Joubert syndrome (journal article) Penon‐Portmann, Monica \| Eldomery, Mohammad K. \| Potocki, Lorraine \| Marafi, Dana \| Posey, Jennifer E. \| Coban‐Akdemir, Zeynep \| Harel, Tamar \| Grochowski, Christopher M. \| Loucks, Hailey \| Devine, Walter Patrick \| ... \| Shieh, Joseph T. American Journal of Medical Genetics Part A, volume 188, issue 8, pages 2360-2366 (2022). 10.1002/ajmg.a.62872 Cited by (3) \| 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
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
Expanding the phenotypic and allelic spectrum of SMG8 : Clinical observations reveal overlap with associated disease trait (journal article) Abdel‐Salam, Ghada M. H. \| Duan, Ruizhi \| Abdel‐Hamid, Mohamed S. \| Sayed, Inas S. M. \| Jhangiani, Shalini N. \| Khan, Ziad \| Du, Haowei \| Gibbs, Richard A. \| Posey, Jennifer E. \| Marafi, Dana \| Lupski, James R. American Journal of Medical Genetics Part A, volume 188, issue 2, pages 648-657 (2022). 10.1002/ajmg.a.62561 Cited by (4) \| 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 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
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
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
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
Multilocus pathogenic variation in ZC4H2, MUSK, CAPN3, and NAV2 results in a blended phenotype of severe neurodevelopmental disorder with epilepsy, brain malformation, hypotonia, dysmorphism, and musculoskeletal abnormalities (2101) (journal article) Herman, Isabella \| Marafi, Dana \| Abdelsalam, Ghada \| Mitani, Tadahiro \| Calame, Daniel \| Akdemir, Zeynep Coban \| Pehlivan, Davut \| Posey, Jennifer \| Lupski, James Neurology, volume 96, issue 15_supplement (2021). 10.1212/WNL.96.15_supplement.2101 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
Clinical exome sequencing in the diagnosis of pediatric neuromuscular disease (journal article) Herman, Isabella \| Lopez, Michael A. \| Marafi, Dana \| Pehlivan, Davut \| Calame, Daniel G. \| Abid, Farida \| Lotze, Timothy E. Muscle & Nerve, volume 63, issue 3, pages 304-310 (2021). 10.1002/mus.27112 Cited by (21) \| Cite \| Source
Biallelic in-frame deletion in TRAPPC4 in a family with developmental delay and cerebellar atrophy (journal article) Saad, Ahmed K \| Marafi, Dana \| Mitani, Tadahiro \| Jolly, Angad \| Du, Haowei \| Elbendary, Hasnaa M \| Jhangiani, Shalini N \| Akdemir, Zeynep C \| Gibbs, Richard A \| Hunter, Jill V \| ... \| Lupski, James R Brain, volume 143, issue 10, pages e83-e83 (2020). 10.1093/brain/awaa256 Cited by (7) \| 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
RSRC1 loss-of-function variants cause mild to moderate autosomal recessive intellectual disability (journal article) Scala, Marcello \| Mojarrad, Majid \| Riazuddin, Saima \| Brigatti, Karlla W \| Ammous, Zineb \| Cohen, Julie S \| Hosny, Heba \| Usmani, Muhammad A \| Shahzad, Mohsin \| Riazuddin, Sheikh \| ... \| Maroofian, Reza Brain, volume 143, issue 4, pages e31-e31 (2020). 10.1093/brain/awaa070 Cited by (6) \| Cite \| Source
GNA11 brain somatic pathogenic variant in an individual with phacomatosis pigmentovascularis (journal article) Sliepka, Joseph M. \| McGriff, Sarah C. \| Rossetti, Linda Z. \| Bizargity, Peyman \| Streff, Haley \| Lee, Yi-Shan \| Dai, Hongzheng \| Polubothu, Satyamaanasa \| Lee, Grace \| Ren, Vicky \| ... \| Marafi, Dana Neurology Genetics, volume 5, issue 6 (2019). 10.1212/NXG.0000000000000366 Cited by (5) \| Cite \| Source
Picking up the pace (journal article) Marafi, Dana \| Fussner, Steven \| Chen, Yvonne Y. \| Yoshor, Daniel \| Van Ness, Paul \| Maheshwari, Atul Clinical Neurophysiology, volume 130, issue 9, pages 1528-1530 (2019). 10.1016/j.clinph.2019.06.003 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 (18) \| Cite \| Source