Jennifer E. Posey

ScholarGPS® ID: 74449604866094

Affiliation

Baylor College of Medicine, Houston, United States

Affiliation History

Field

Life Sciences

Discipline

Genetics

Top Specialties

Metrics Summary

Publication Count

Predicted Citations

1,374

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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Atypical Diabetes: What Have We Learned and What Does the Future Hold? (journal article) Stone, Stephen I. \| Balasubramanyam, Ashok \| Posey, Jennifer E. Diabetes Care, volume 47, issue 5, pages 770-781 (2024). 10.2337/dci23-0038 Cited by (1) \| Cite \| Source
Multilocus pathogenic variants contribute to intrafamilial clinical heterogeneity: a retrospective study of sibling pairs with neurodevelopmental disorders (journal article) Bozkurt-Yozgatli, Tugce \| Pehlivan, Davut \| Gibbs, Richard A. \| Sezerman, Ugur \| Posey, Jennifer E. \| Lupski, James R. \| Coban-Akdemir, Zeynep BMC Medical Genomics, volume 17, issue 1 (2024). 10.1186/s12920-024-01852-4 Cite \| Source
Human embryonic genetic mosaicism and its effects on development and disease (journal article) Waldvogel, Sarah M. \| Posey, Jennifer E. \| Goodell, Margaret A. Nature Reviews Genetics (2024). 10.1038/s41576-024-00715-z Cited by (1) \| Cite \| Source
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
Phenotypic heterogeneity associated with KIF21A : Two new cases and review of the literature (journal article) Bhola, Priya T. \| Mishra, Radha \| Posey, Jennifer E. \| Hamilton, Leslie E. \| Graham, Gail E. \| Punetha, Jaya \| Lupski, James R. \| Boycott, Kym M. \| D'Amours, Damien \| Kernohan, Kristin D. American Journal of Medical Genetics Part A, volume 194, issue 3 (2024). 10.1002/ajmg.a.63455 Cited by (1) \| 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
Genomics in Clinical Practice (journal article) Posey, Jennifer E. \| Lupski, James R. New England Journal of Medicine, volume 388, issue 17, pages 1619-1620 (2023). 10.1056/NEJMe2302643 Cite \| Source
P116: Triple molecular diagnosis of Wolf-Hirschhorn syndrome, 20p duplication syndrome, and frontotemporal dementia and/or amyotrophic lateral sclerosis (journal article) Ben Moshe, Yishay \| Posey, Jennifer Ellen Genetics in Medicine Open, volume 1, issue 1, pages 100145- (2023). 10.1016/j.gimo.2023.100145 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
Early‐Onset and Severe Complex Hereditary Spastic Paraplegia Caused by De Novo Variants in SPAST (journal article) Mo, Alisa \| Saffari, Afshin \| Kellner, Melanie \| Döbler‐Neumann, Marion \| Jordan, Catherine \| Srivastava, Siddharth \| Zhang, Bo \| Sahin, Mustafa \| Fink, John K. \| Smith, Linsley \| ... \| Ebrahimi‐Fakhari, Darius Movement Disorders, volume 37, issue 12, pages 2440-2446 (2022). 10.1002/mds.29225 Cited by (9) \| 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
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
Advances in Next-Generation Sequencing Technologies and Functional Investigation of Candidate Variants in Neurological and Behavioral Disorders (book chapter) In Encyclopedia of Behavioral Neuroscience, 2nd edition Andrews, Jonathan C. \| Wangler, Michael F. \| Yamamoto, Shinya \| Posey, Jennifer E. Elsevier (2022) 10.1016/B978-0-12-819641-0.00145-6 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 Biallelic Variants in KIF21A Cause a Novel Phenotype of Fetal Akinesia with Neurodevelopmental Defects (conference) Cirak, Sebahattin \| Özdemir, Özkan \| Daimagüler, Hülya-Sevcan \| Karaca, Ezgi \| Sprute, Rosanne \| Pergande, Matthias \| Lücke, Thomas \| Punetha, Jaya \| Joset, Pascal \| Bhola, Priya T. \| ... \| Lupski, James R. Abstracts of the 46th Annual Meeting of the Society for Neuropediatrics (2021) Salzburg 10.1055/s-0041-1739693 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

Title	Investigators	Year	Cost	Agency
Individual genomic analyses to discover the molecular basis and mechanisms contributing to adult-onset disease	Posey, Jennifer Ellen	2020	$166,235	NATIONAL HUMAN GENOME RESEARCH INSTITUTE
Individual genomic analyses to discover the molecular basis and mechanisms contributing to adult-onset disease	Posey, Jennifer Ellen	2019	$166,235	NATIONAL HUMAN GENOME RESEARCH INSTITUTE
Individual genomic analyses to discover the molecular basis and mechanisms contributing to adult-onset disease	Posey, Jennifer Ellen	2018	$166,235	NATIONAL HUMAN GENOME RESEARCH INSTITUTE
Individual genomic analyses to discover the molecular basis and mechanisms contributing to adult-onset disease	Posey, Jennifer Ellen	2017	$166,235	NATIONAL HUMAN GENOME RESEARCH INSTITUTE