JenniferEllenPoseyMD

PubMed

• 1 citations
  Metabolic individuality: Limitations, challenges, and potential for clinical utility.
  Sarah H Elsea, Jennifer E Posey> ;Cell Metabolism. 2023 Feb 7
• 7 citations
  The clinical and molecular spectrum of QRICH1 associated neurodevelopmental disorder.
  Smitha Kumble, Amanda M. Levy, Jaya Punetha, Hua Gao, Nicholas Ah Mew, Kwame Anyane-Yeboa, Paul J. Benke, Sara M. Berger, Lise Bjerglund, Belinda Campos-Xavier, Michae...> ;Human Mutation. 2021 Dec 2
• 10 citations
  Quantitative dissection of multilocus pathogenic variation in an Egyptian infant with severe neurodevelopmental disorder resulting from multiple molecular diagnoses.
  Isabella Herman, Angad Jolly, Haowei Du, Moez Dawood, Ghada M H Abdel-Salam, Dana Marafi, Tadahiro Mitani, Daniel G. Calame, Zeynep Coban-Akdemir, Jawid M Fatih, Ibrah...> ;American Journal of Medical Genetics. Part A. 2021 Nov 23
• 2 citations
  Expanding the phenotypic and allelic spectrum of SMG8: Clinical observations reveal overlap with SMG9-associated disease trait.
  Ghada M H Abdel-Salam, Ruizhi Duan, Mohamed Abdelhamid, Inas S. M. Sayed, Shalini N. Jhangiani, Ziad Khan, Haowei Du, Richard A. Gibbs, Jennifer E. Posey, Dana Marafi,...> ;American Journal of Medical Genetics. Part A. 2021 Nov 10
• Elucidating the clinical spectrum and molecular basis of HYAL2 deficiency
  James Fasham, Siying Lin, Promita Ghosh, Francesca Clementina Radio, Emily G. Farrow, Isabelle Thiffault, Jennifer Kussman, Dihong Zhou, Rick Hemming, Kenneth G. Zahka...> ;Genetics in Medicine. 2021 Nov 1
• 8 citations
  Retrospective analysis of a clinical exome sequencing cohort reveals the mutational spectrum and identifies candidate disease–associated loci for BAFopathies
  Chun-An Chen, John Lattier, Wenmiao Zhu, Jill A. Rosenfeld, Lei Wang, Tiana M. Scott, Haowei Du, Vipulkumar Patel, Anh Dang, Pilar L. Magoulas, Haley Streff, Jessica S...> ;Genetics in Medicine. 2021 Nov 1
• 5 citations
  AHDC1 missense mutations in Xia-Gibbs syndrome
  Michael M. Khayat, Jianhong Hu, Yunyun Jiang, He Li, Varuna Chander, Moez Dawood, Adam W. Hansen, Shoudong Li, Jennifer Friedman, Laura A Cross, Emilia K. Bijlsma, Cla...> ;HGG Advances. 2021 Oct 14
• 16 citations
  Biallelic variants in SLC38A3 encoding a glutamine transporter cause epileptic encephalopathy.
  Dana Marafi, Jawid M Fatih, Rauan Kaiyrzhanov, Matteo P. Ferla, Charul Gijavanekar, A Al-Maraghi, Ning Liu, E Sites, Hessa S. Alsaif, Mohammed Al-Owain, M Zakkariah, E...> ;Brain. 2021 Oct 4
• 31 citations
  High prevalence of multilocus pathogenic variation in neurodevelopmental disorders in the Turkish population.
  Tadahiro Mitani, Sedat Işıkay, Alper Gezdirici, Elif Yilmaz Gulec, Jaya Punetha, Jawid M Fatih, Isabella Herman, Gulsen Akay, Haowei Du, Daniel G. Calame, Akif Ayaz, T...> ;American Journal of Human Genetics. 2021 Oct 7
• Deep clinicopathological phenotyping identifies a previously unrecognized pathogenic EMD splice variant.
  Daniel G. Calame, Jawid M Fatih, Isabella Herman, Zeynep Coban-Akdemir, Haowei Du, Tadahiro Mitani, Shalini N. Jhangiani, Dana Marafi, Richard A. Gibbs, Jennifer E. Po...> ;Annals of Clinical and Translational Neurology. 2021 Sep 15
• 1 citations
  Response to Biesecker et al.
  Ada Hamosh, Joanna S. Amberger, Carol A. Bocchini, Joann Bodurtha, Carol J. Bult, Christopher G. Chute, Garry R. Cutting, Harry C. Dietz, Helen V. Firth, Richard A. Gi...> ;American Journal of Human Genetics. 2021 Sep 2
• 16 citations
  PhenoDB, GeneMatcher and VariantMatcher, tools for analysis and sharing of sequence data.
  Elizabeth Wohler, Renan Paulo Martin, Sean Griffith, Eliete S. Rodrigues, Corina Antonescu, Jennifer E. Posey, Zeynep Coban-Akdemir, Shalini N. Jhangiani, Kimberly F. ...> ;Orphanet Journal of Rare Diseases. 2021 Aug 18
• 4 citations
  Exome sequencing in children with clinically suspected maturity-onset diabetes of the young.
  Mustafa Tosur, Claudia Soler-Alfonso, Katie M Chan, Michael M. Khayat, Shalini N. Jhangiani, Qingchang Meng, Ahmad K. Refaey, Donna M. Muzny, Richard A. Gibbs, David R...> ;Pediatric Diabetes. 2021 Aug 19
• 6 citations
  Biallelic loss-of-function variants in the splicing regulator NSRP1 cause a severe neurodevelopmental disorder with spastic cerebral palsy and epilepsy.
  Daniel G. Calame, Somayeh Bakhtiari, Rachel Logan, Zeynep Coban-Akdemir, Haowei Du, Tadahiro Mitani, Jawid M Fatih, Jill V. Hunter, Isabella Herman, Davut Pehlivan, Sh...> ;Genetics in Medicine. 2021 Aug 12
• 6 citations
  One is the loneliest number: genotypic matchmaking using the electronic health record.
  , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , ,...> ;Genetics in Medicine. 2021 Jul 6
• 15 citations
  IFIH1 loss-of-function variants contribute to very early-onset inflammatory bowel disease.
  Mara Cananzi, Elizabeth Wohler, Antonio Marzollo, Davide Colavito, Jing You, Huie Jing, Silvia Bresolin, P. Gaio, Renan Paulo Martin, Claudia Mescoli, Sangeeta Bade, J...> ;Human Genetics. 2021 Jun 29
• 27 citations
  Exome variant discrepancies due to reference genome differences.
  He Li, Moez Dawood, Michael M. Khayat, Jesse Farek, Shalini N. Jhangiani, Ziad Khan, Tadahiro Mitani, Zeynep Coban-Akdemir, James R. Lupski, Eric Venner, Jennifer E. P...> ;American Journal of Human Genetics. 2021 Jun 11
• 7 citations
  Haploinsufficiency of ARFGEF1 is associated with developmental delay, intellectual disability, and epilepsy with variable expressivity.
  Quentin Thomas, Thierry Gautier, Dana Marafi, Thomas Besnard, Marjolaine Willems, Sebastien Moutton, Bertand Isidor, Benjamin Cogné, Solène Conrad, Romano Tenconi, Mar...> ;Genetics in Medicine. 2021 Jun 10
• 12 citations
  Heterozygous loss-of-function variants significantly expand the phenotypes associated with loss of GDF11.
  Thomas A. Ravenscroft, Jennifer B. Phillips, Elizabeth L. Fieg, Sameer S. Bajikar, Judy L. Peirce, Jeremy Wegner, Alia A. Luna, Eric J. Fox, Yi-Lin Yan, Jill A. Rosenf...> ;Genetics in Medicine. 2021 Jun 10
• 6 citations
  Risk of sudden cardiac death in EXOSC5-related disease.
  Daniel G. Calame, Isabella Herman, Jawid M Fatih, Haowei Du, Gulsen Akay, Shalini N. Jhangiani, Zeynep Coban-Akdemir, Dianna M. Milewicz, Richard A. Gibbs, Jennifer E....> ;American Journal of Medical Genetics. Part A. 2021 Jun 4
• 5 citations
  Biallelic Pathogenic Variants in TNNT3 Associated With Congenital Myopathy.
  Daniel G. Calame, Jawid M Fatih, Isabella Herman, Zeynep Coban Akdemir, Haowei Du, Shalini N. Jhangiani, Richard A. Gibbs, Dana Marafi, Davut Pehlivan, Jennifer E. Pos...> ;Neurology. Genetics. 2021 Apr 26
• 19 citations
  Biallelic and monoallelic variants in PLXNA1 are implicated in a novel neurodevelopmental disorder with variable cerebral and eye anomalies
  Gabriel C. Dworschak, Jaya Punetha, Jeshurun C Kalanithy, Enrico Mingardo, Haktan Bağış Erdem, Zeynep Coban Akdemir, Ender Karaca, Tadahiro Mitani, Dana Marafi, Jawid ...> ;Genetics in Medicine. 2021 May 30
• 3 citations
  Two novel bi-allelic KDELR2 missense variants cause osteogenesis imperfecta with neurodevelopmental features.
  Stephanie Efthymiou, Isabella Herman, Fatima Rahman, Najwa Anwar, Reza Maroofian, Janice Yip, Tadahiro Mitani, Daniel G. Calame, Jill V. Hunter, V. Reid Sutton, Elif Y...> ;American Journal of Medical Genetics. Part A. 2021 May 8
• 13 citations
  Clinical, neuroimaging and molecular spectrum of TECPR2-associated hereditary sensory and autonomic neuropathy with intellectual disability.
  Sonja Neuser, Barbara Brechmann, Gali Heimer, Ines Brösse, Susanna Schubert, Lauren O’Grady, Michael Zech, Siddharth Srivastava, David A. Sweetser, Yasemin Dincer, Vol...> ;Human Mutation. 2021 Apr 13
• 8 citations
  Heterozygous variants in SPTBN1 cause intellectual disability and autism
  Jill A. Rosenfeld, Rui Xiao, Mir Reza Bekheirnia, Farah Kanani, Michael Parker, Mary Kay Koenig, Arie van Haeringen, Claudia A. L. Ruivenkamp, Joana Rosmaninho-Salgado...> ;American Journal of Medical Genetics. Part A. 2021 Apr 13
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Journal Articles

• Clinical Exome Sequencing Reveals Locus Heterogeneity and Phenotypic Variability of Cohesinopathies  
  Scott E Hickey, Leah Slattery, James R Lupski, Margaret P Adam, Olivia Wenger, Davut Pehlivan, Laura Martin, Farida Abid, Dorothy Grange, Jennifer E Posey, Alison A Be..., Nature
• A Comprehensive Clinical and Genetic Study in 127 Patients with ID in Kinshasa, DR Congo  
  James R Lupski, Jennifer Posey, American Journal of Medical Genetics Part A