Jaya Punetha

ScholarGPS® ID: 75452478164806

Affiliation

Baylor College of Medicine, Houston, United States

Affiliation History

Field

Life Sciences

Discipline

Genetics

Top Specialties

Birth Defect | Neuromuscular Disease | Human Genetics

Metrics Summary

Publication Count

Predicted Citations

754

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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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
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
Missed diagnoses: Clinically relevant lessons learned through medical mysteries solved by the Undiagnosed Diseases Network (journal article) Cope, Heidi \| Spillmann, Rebecca \| Rosenfeld, Jill A. \| Brokamp, Elly \| Signer, Rebecca \| Schoch, Kelly \| Kelley, Emily G. \| Sullivan, Jennifer A. \| Macnamara, Ellen \| Lincoln, Sharyn \| ... \| Shashi, Vandana Molecular Genetics & Genomic Medicine, volume 8, issue 10 (2020). 10.1002/mgg3.1397 Cited by (14) \| Cite \| Source
Wolff–Parkinson–White syndrome: De novo variants and evidence for mutational burden in genes associated with atrial fibrillation (journal article) Coban‐Akdemir, Zeynep H. \| Charng, Wu‐Lin \| Azamian, Mahshid \| Paine, Ingrid S. \| Punetha, Jaya \| Grochowski, Christopher M. \| Gambin, Tomasz \| Valdes, Santiago O. \| Cannon, Bryan \| Zapata, Gladys \| ... \| Lalani, Seema R. American Journal of Medical Genetics Part A, volume 182, issue 6, pages 1387-1399 (2020). 10.1002/ajmg.a.61571 Cited by (19) \| 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
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 (19) \| Cite \| Source
Prioritization of Candidate Genes for Congenital Diaphragmatic Hernia in a Critical Region on Chromosome 4p16 using a Machine-Learning Algorithm (journal article) Callaway, Danielle \| Campbell, Ian \| Stover, Samantha \| Hernandez-Garcia, Andres \| Jhangiani, Shalini \| Punetha, Jaya \| Paine, Ingrid \| Posey, Jennifer \| Muzny, Donna \| Lally, Kevin \| ... \| Scott, Daryl Journal of Pediatric Genetics, volume 07, issue 04, pages 164-173 (2018). 10.1055/s-0038-1655755 Cited by (15) \| Cite \| Source
Identification of a pathogenic PMP2 variant in a multi-generational family with CMT type 1: Clinical gene panels versus genome-wide approaches to molecular diagnosis (journal article) Punetha, Jaya \| Mackay-Loder, Loren \| Harel, Tamar \| Coban-Akdemir, Zeynep \| Jhangiani, Shalini N. \| Gibbs, Richard A. \| Lee, Ian \| Terespolsky, Deborah \| Lupski, James R. \| Posey, Jennifer E. Molecular Genetics and Metabolism, volume 125, issue 3, pages 302-304 (2018). 10.1016/j.ymgme.2018.08.005 Cited by (10) \| Cite \| Source
Identifying Genes Whose Mutant Transcripts Cause Dominant Disease Traits by Potential Gain-of-Function Alleles (journal article) Coban-Akdemir, Zeynep \| White, Janson J. \| Song, Xiaofei \| Jhangiani, Shalini N. \| Fatih, Jawid M. \| Gambin, Tomasz \| Bayram, Yavuz \| Chinn, Ivan K. \| Karaca, Ender \| Punetha, Jaya \| ... \| Carvalho, Claudia M.B. The American Journal of Human Genetics, volume 103, issue 2, pages 171-187 (2018). 10.1016/j.ajhg.2018.06.009 Cited by (145) \| Cite \| Source
The role of FREM2 and FRAS1 in the development of congenital diaphragmatic hernia (journal article) Jordan, Valerie K \| Beck, Tyler F \| Hernandez-Garcia, Andres \| Kundert, Peter N \| Kim, Bum-Jun \| Jhangiani, Shalini N \| Gambin, Tomasz \| Starkovich, Molly \| Punetha, Jaya \| Paine, Ingrid S \| ... \| Scott, Daryl A Human Molecular Genetics, volume 27, issue 12, pages 2064-2075 (2018). 10.1093/hmg/ddy110 Cited by (15) \| Cite \| Source
Novel Col12A1 variant expands the clinical picture of congenital myopathies with extracellular matrix defects (journal article) Punetha, Jaya \| Kesari, Akanchha \| Hoffman, Eric P. \| Gos, Monika \| Kamińska, Anna \| Kostera‐Pruszczyk, Anna \| Hausmanowa‐Petrusewicz, Irena \| Hu, Ying \| Zou, Yaqun \| Bönnemann, Carsten G. \| JȨdrzejowska, Maria Muscle & Nerve, volume 55, issue 2, pages 277-281 (2017). 10.1002/mus.25232 Cited by (26) \| Cite \| Source \| Open Access
A novel COL12A1 variant expands the clinical picture for a collagen XII-related myopathy (journal article) Punetha, J. \| Kesari, A. \| Hoffman, E. \| Gos, M. \| Kaminska, A. \| Kostera-Pruszczyk, A. \| Hu, Y. \| Zou, Y. \| Bonnemann, C. \| Jedrzejowska, M. Neuromuscular Disorders, volume 26 (2016). 10.1016/j.nmd.2016.06.373 Cite \| Source
Somatic mosaicism due to a reversion variant causing hemi-atrophy: a novel variant of dystrophinopathy (journal article) Punetha, Jaya \| Mansoor, Simin \| Bertorini, Tulio E \| Kesari, Akanchha \| Brown, Kristy J \| Hoffman, Eric P European Journal of Human Genetics, volume 24, issue 10, pages 1511-1514 (2016). 10.1038/ejhg.2016.22 Cited by (5) \| Cite \| Source \| Open Access
Diagnosis and etiology of congenital muscular dystrophy: We are halfway there (journal article) O'Grady, Gina L. \| Lek, Monkol \| Lamande, Shireen R. \| Waddell, Leigh \| Oates, Emily C. \| Punetha, Jaya \| Ghaoui, Roula \| Sandaradura, Sarah A. \| Best, Heather \| Kaur, Simranpreet \| ... \| North, Kathryn Annals of Neurology, volume 80, issue 1, pages 101-111 (2016). 10.1002/ana.24687 Cited by (58) \| Cite \| Source
Targeted Re-Sequencing Emulsion PCR Panel for Myopathies: Results in 94 Cases (journal article) Punetha, Jaya \| Kesari, Akanchha \| Uapinyoying, Prech \| Giri, Mamta \| Clarke, Nigel F. \| Waddell, Leigh B. \| North, Kathryn N. \| Ghaoui, Roula \| O’Grady, Gina L. \| Oates, Emily C. \| ... \| Hoffman, Eric P. Journal of Neuromuscular Diseases, volume 3, issue 2, pages 209-225 (2016). 10.3233/JND-160151 Cited by (17) \| Cite \| Source
Novel Col12A1 variant expands the clinical picture of congenital myopathies with extracellular matrix defects. (journal article) Punetha, Jaya \| Kesari, Akanchha \| Hoffman, Eric P \| Gos, Monika \| Kamińska, Anna \| Kostera-Pruszczyk, Anna \| Hausmanowa-Petrusewicz, Irena \| Hu, Ying \| Zou, Yaqun \| Bönnemann, Carsten G \| JȨdrzejowska, Maria Muscle & nerve (2016). Cite
Association Study of Exon Variants in the NF-κB and TGFβ Pathways Identifies CD40 as a Modifier of Duchenne Muscular Dystrophy. (journal article) Bello, Luca \| Flanigan, Kevin M \| Weiss, Robert B \| Spitali, Pietro \| Aartsma-Rus, Annemieke \| Muntoni, Francesco \| Zaharieva, Irina \| Ferlini, Alessandra \| Mercuri, Eugenio \| Tuffery-Giraud, Sylvie \| ... \| Hoffman, Eric P American journal of human genetics, volume 99, issue 5 (2016). Cite
Recessive ACTA1 variant causes congenital muscular dystrophy with rigid spine (journal article) O'Grady, Gina L \| Best, Heather A \| Oates, Emily C \| Kaur, Simranpreet \| Charlton, Amanda \| Brammah, Susan \| Punetha, Jaya \| Kesari, Akanchha \| North, Kathryn N \| Ilkovski, Biljana \| ... \| Clarke, Nigel F European Journal of Human Genetics, volume 23, issue 6, pages 883-886 (2015). 10.1038/ejhg.2014.169 Cited by (21) \| Cite \| Source \| Open Access
Genetic modifiers of ambulation in the cooperative international Neuromuscular research group Duchenne natural history study (journal article) Bello, Luca \| Kesari, Akanchha \| Gordish‐Dressman, Heather \| Cnaan, Avital \| Morgenroth, Lauren P. \| Punetha, Jaya \| Duong, Tina \| Henricson, Erik K. \| Pegoraro, Elena \| McDonald, Craig M. \| Hoffman, Eric P. Annals of Neurology, volume 77, issue 4, pages 684-696 (2015). 10.1002/ana.24370 Cited by (98) \| Cite \| Source \| Open Access
Exome Sequencing Identifies DYNC1H1 Variant Associated With Vertebral Abnormality and Spinal Muscular Atrophy With Lower Extremity Predominance (journal article) Punetha, Jaya \| Monges, Soledad \| Franchi, Maria Emilia \| Hoffman, Eric P. \| Cirak, Sebahattin \| Tesi-Rocha, Carolina Pediatric Neurology, volume 52, issue 2, pages 239-244 (2015). 10.1016/j.pediatrneurol.2014.09.003 Cited by (30) \| Cite \| Source \| Open Access