G. Bhat

Most-cited papers

1. Rare deleterious mutations of HNRNP genes result in shared neurodevelopmental disorders

   M. Gillentine, Tianyun Wang, K. Hoekzema, J. Rosenfeld +94 more

   2021Genome Medicine97 citations Open access

   Semantic Scholar

   Save

2. Homozygous mutation in NUP107 leads to microcephaly with steroid-resistant nephrotic condition similar to Galloway-Mowat syndrome

   R. O. Rosti, Bethany N. Sotak, Stephanie L. Bielas, G. Bhat +13 more

   2017Journal of Medical Genetics78 citations

   Semantic Scholar

   Save

3. Expanding the clinical spectrum of late-onset Pompe disease: dilated arteriopathy involving the thoracic aorta, a novel vascular phenotype uncovered.

   A. El-Gharbawy, G. Bhat, J. Murillo, B. Thurberg +3 more

   2011Molecular Genetics and Metabolism54 citations Open access

   Semantic Scholar

   Save

4. A homozygous founder mutation in TRAPPC6B associates with a neurodevelopmental disorder characterised by microcephaly, epilepsy and autistic features

   I. Marín-Valencia, G. Novarino, Anide Johansen, Başak Rosti +11 more

   2017Journal of Medical Genetics46 citations Open access

   Semantic Scholar

   Save

5. PYCR2 mutations cause a lethal syndrome of microcephaly and failure to thrive

   M. Zaki, G. Bhat, Tipu Sultan, M. Issa +8 more

   2016Annals of Neurology41 citations Open access

   Semantic Scholar

   Save

6. Xq11.1-11.2 deletion involving ARHGEF9 in a girl with autism spectrum disorder.

   G. Bhat, D. Lagrave, A. Millson, John Herriges +2 more

   2016European Journal of Medical Genetics19 citations

   Semantic Scholar

   Save

7. Temple syndrome resulting from uniparental disomy is undiagnosed by a methylation assay due to low‐level mosaicism for trisomy 14

   V. Lindgren, Katherine Cobian, G. Bhat

   2021American Journal of Medical Genetics. Part A7 citations

   Semantic Scholar

   Save

8. Chromosomal microarray in prenatal diagnosis: case studies and clinical challenges.

   K. Leavitt, T. Goldwaser, G. Bhat, Isha Kalia +2 more

   2016Personalized Medicine5 citations

   Semantic Scholar

   Save

9. Identification of a novel variant of FOXP3 resulting in severe immune dysregulation, polyendocrinopathy, enteropathy, X‐linked syndrome highlights potential pitfalls of molecular testing

   A. Kirchner, Isabelle Sanchez, Alice Zalan, G. Bhat +1 more

   2022Pediatric dermatology3 citations

   Semantic Scholar

   Save

10. SUPT16H-associated neurodevelopmental disorder and neurocristopathy: genetic and phenotypic spectrum

    Eunhye Lee, Seungmin Sim, Hee-Jung Choi, Eugene Y. Liang +48 more

    2026Human Molecular Genetics2 citations Open access

    Semantic Scholar

    Save

11. Floating-Harbor syndrome with chorioretinal colobomas

    Samantha Alanis, M. Blair, L. M. Kaufman, G. Bhat +1 more

    2023Ophthalmic Genetics1 citations

    Semantic Scholar

    Save

12. P355: Rubinstein-Taybi syndrome: Typical and atypical, Nemours experience and beyond

    G. Bhat, D. Allen, Katherine Hehmeyer, Kathleen Pope

    2024Genetics in Medicine Open0 citations Open access

    Semantic Scholar

    Save

13. A novel TSC1 variant associated with tuberous sclerosis and sacrococcygeal teratoma

    Saba Ahmad, L. Manon, G. Bhat, Jerry Machado +4 more

    2020Human Genome Variation0 citations Open access

    Semantic Scholar

    Save