Shalini N. Jhangiani

ScholarGPS® ID: 65732115940190

Affiliation

Baylor College of Medicine, Houston, United States

Affiliation History

Field

Life Sciences

Discipline

Genetics

Top Specialties

Metrics Summary

Publication Count

117

Predicted Citations

5,589

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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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
HMZDupFinder: a robust computational approach for detecting intragenic homozygous duplications from exome sequencing data (journal article) Du, Haowei \| Dardas, Zain \| Jolly, Angad \| Grochowski, Christopher M \| Jhangiani, Shalini N \| Li, He \| Muzny, Donna \| Fatih, Jawid M \| Yesil, Gozde \| Elçioglu, Nursel H \| ... \| Lupski, James R Nucleic Acids Research, volume 52, issue 4, pages e18-e18 (2024). 10.1093/nar/gkad1223 Cited by (1) \| Cite \| Source
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
P669: VariantMatcher: A tool to enable connections amongst individuals with interest in a specific variant (journal article) Sobreira, Nara \| Griffith, Sean \| Antonescu, Corina \| Vail, Laura \| Posey, Jennifer \| Coban-Akdemir, Zeynep \| Jhangiani, Shalini \| Doheny, Kimberly \| Lupski, James \| Valle, David \| ... \| Martin, Renan Genetics in Medicine Open, volume 1, issue 1, pages 100734- (2023). 10.1016/j.gimo.2023.100734 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
Variant‐level matching for diagnosis and discovery: Challenges and opportunities (journal article) Rodrigues, Eliete da S. \| Griffith, Sean \| Martin, Renan \| Antonescu, Corina \| Posey, Jennifer E. \| Coban‐Akdemir, Zeynep \| Jhangiani, Shalini N. \| Doheny, Kimberly F. \| Lupski, James R. \| Valle, David \| ... \| Sobreira, Nara Human Mutation (2022). 10.1002/humu.24359 Cited by (8) \| 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
PhenoDB, GeneMatcher and VariantMatcher, tools for analysis and sharing of sequence data (journal article) Wohler, Elizabeth \| Martin, Renan \| Griffith, Sean \| Rodrigues, Eliete da S. \| Antonescu, Corina \| Posey, Jennifer E. \| Coban-Akdemir, Zeynep \| Jhangiani, Shalini N. \| Doheny, Kimberly F. \| Lupski, James R. \| ... \| Sobreira, Nara Orphanet Journal of Rare Diseases, volume 16, issue 1 (2021). 10.1186/s13023-021-01916-z Cited by (18) \| Cite \| Source
Novel pathogenic genomic variants leading to autosomal dominant and recessive Robinow syndrome (journal article) Zhang, Chaofan \| Mazzeu, Juliana F. \| Eisfeldt, Jesper \| Grochowski, Christopher M. \| White, Janson \| Akdemir, Zeynep C. \| Jhangiani, Shalini N. \| Muzny, Donna M. \| Gibbs, Richard A. \| Lindstrand, Anna \| ... \| Carvalho, Claudia M. B. American Journal of Medical Genetics Part A, volume 185, issue 12, pages 3593-3600 (2021). 10.1002/ajmg.a.61908 Cited by (17) \| 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
Exome sequencing in children with clinically suspected maturity‐onset diabetes of the young (journal article) Tosur, Mustafa \| Soler‐Alfonso, Claudia \| Chan, Katie M. \| Khayat, Michael M. \| Jhangiani, Shalini N. \| Meng, Qingchang \| Refaey, Ahmad \| Muzny, Donna \| Gibbs, Richard A. \| Murdock, David R. \| ... \| Sabo, Aniko Pediatric Diabetes, volume 22, issue 7, pages 960-968 (2021). 10.1111/pedi.13257 Cited by (7) \| 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
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
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
Exome sequencing reveals predominantly de novo variants in disorders with intellectual disability (ID) in the founder population of Finland (journal article) Järvelä, Irma \| Määttä, Tuomo \| Acharya, Anushree \| Leppälä, Juha \| Jhangiani, Shalini N. \| Arvio, Maria \| Siren, Auli \| Kankuri-Tammilehto, Minna \| Kokkonen, Hannaleena \| Palomäki, Maarit \| ... \| Schrauwen, Isabelle Human Genetics, volume 140, issue 7, pages 1011-1029 (2021). 10.1007/s00439-021-02268-1 Cited by (22) \| 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
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