Tadahiro Mitani

ScholarGPS® ID: 39084480479359

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

Field
Life Sciences
Discipline
Genetics
Top Specialties
Medical Genetics | Epilepsy
Metrics Summary
Publication Count
13
Predicted Citations
120
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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Novel dominant and recessive variants in human ROBO1 cause distinct neurodevelopmental defects through different mechanisms (journal article)
Huang, Yan | Ma, Mengqi | Mao, Xiao | Pehlivan, Davut | Kanca, Oguz | Un-Candan, Feride | Shu, Li | Akay, Gulsen | Mitani, Tadahiro | Lu, Shenzhao | ... | Bellen, Hugo J
Human Molecular Genetics, volume 31, issue 16, pages 2751-2765 (2022).
10.1093/hmg/ddac070
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
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
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
Exome variant discrepancies due to reference-genome differences (journal article)
Li, He | Dawood, Moez | Khayat, Michael M. | Farek, Jesse R. | Jhangiani, Shalini N. | Khan, Ziad M. | Mitani, Tadahiro | Coban-Akdemir, Zeynep | Lupski, James R. | Venner, Eric | ... | Gibbs, Richard A.
The American Journal of Human Genetics, volume 108, issue 7, pages 1239-1250 (2021).
10.1016/j.ajhg.2021.05.011
Cited by (31) | 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
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 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