Jaya Punetha
Baylor College of Medicine
H-index: 20
North America-United States
Top articles of Jaya Punetha
Title | Journal | Author(s) | Publication Date |
|---|---|---|---|
Phenotypic heterogeneity associated with KIF21A: Two new cases and review of the literature | Priya T Bhola Radha Mishra Jennifer E Posey Leslie E Hamilton Gail E Graham | 2024/3 | |
A biallelic frameshift indel in PPP1R35 as a cause of primary microcephaly | American Journal of Medical Genetics Part A | Moez Dawood Gulsen Akay Tadahiro Mitani Dana Marafi Jawid M Fatih | 2023/3 |
The clinical and molecular spectrum of QRICH1 associated neurodevelopmental disorder | Human mutation | Smitha Kumble Amanda M Levy Jaya Punetha Hua Gao Nicholas Ah Mew | 2022/2 |
Centers for Mendelian Genomics: A decade of facilitating gene discovery | Samantha M Baxter Jennifer E Posey Nicole J Lake Nara Sobreira Jessica X Chong | 2022/4/1 | |
eP312: Exon level array utility in follow up to identification of copy number variants on expanded carrier screening | Leslie Aptekar Erin Caine Lagoe Jay Shaw Caroline Sotile Daniel Ilg | 2022/3/1 | |
Novel Biallelic Variants in KIF21A Cause a Novel Phenotype of Fetal Akinesia with Neurodevelopmental Defects | Neuropediatrics | Sebahattin Cirak Özkan Özdemir Hülya-Sevcan Daimagüler Ezgi Karaca Rosanne Sprute | 2021/11 |
High prevalence of multilocus pathogenic variation in neurodevelopmental disorders in the Turkish population | The American Journal of Human Genetics | Tadahiro Mitani Sedat Isikay Alper Gezdirici Elif Yilmaz Gulec Jaya Punetha | 2021/10/7 |
Biallelic and monoallelic variants in PLXNA1 are implicated in a novel neurodevelopmental disorder with variable cerebral and eye anomalies | Genetics in Medicine | Gabriel C Dworschak Jaya Punetha Jeshurun C Kalanithy Enrico Mingardo Haktan B Erdem | 2021/9 |
Tadahiro Mitani, Sedat Isikay, 2 Alper Gezdirici, 3 Elif Yilmaz Gulec, 4 Jaya Punetha, Jawid M. Fatih, Isabella Herman, Gulsen Akay, Haowei Du, Daniel G. Calame, Akif Ayaz, 7 … | Osman Yesilbas Betul Kilic Serdal Gungor Ahmet C Ceylan Sevcan Bozdogan | 2021 | |
Wolff–Parkinson–White syndrome: De novo variants and evidence for mutational burden in genes associated with atrial fibrillation | American Journal of Medical Genetics Part A | Zeynep H Coban‐Akdemir Wu‐Lin Charng Mahshid Azamian Ingrid S Paine Jaya Punetha | 2020/6 |
Biallelic GRM7 variants cause epilepsy, microcephaly, and cerebral atrophy | Annals of Clinical and Translational Neurology | Dana Marafi Tadahiro Mitani Sedat Isikay Jozef Hertecant Mohammed Almannai | 2020/5 |
Biallelic and monoallelic variants in PLXNA1 cause a syndromic disorder with neurodevelopmental and oculo-cerebral anomalies | Eur. J. Hum. Genet. | GC Dworschak J Punetha JC Kalanithy E Mingardo HB Erdem | 2020 |
Deficiencies in vesicular transport mediated by TRAPPC4 are associated with severe syndromic intellectual disability | Brain | Nicole J Van Bergen Yiran Guo Noraldin Al-Deri Zhanna Lipatova Daniela Stanga | 2020/1/1 |
Missed diagnoses: Clinically relevant lessons learned through medical mysteries solved by the Undiagnosed Diseases Network | Molecular Genetics & Genomic Medicine | Heidi Cope Rebecca Spillmann Jill A Rosenfeld Elly Brokamp Rebecca Signer | 2020/10 |
