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Meenakshi Bhat

Frontorhiny, a Distinctive Presentation of Frontonasal Dysplasia Caused by Recessive Mutations in the ALX3 Homeobox Gene
2009 · Stephen R.F. Twigg, Sarah L. Versnel, et al. · The American Journal of Human Genetics · 137
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MLL2 mutation detection in 86 patients with Kabuki syndrome: a genotype–phenotype study
2013 · P Makrythanasis, BW van Bon, et al. · Clinical Genetics · 106
Molecular and clinical studies in 107 Noonan syndrome affected individuals with PTPN11 mutations
2020 · Jeevana Praharsha Athota, Meenakshi Bhat, et al. · BMC Medical Genetics · 94
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Genotype–phenotype spectrum of PYCR1-related autosomal recessive cutis laxa
2013 · Aikaterini Dimopoulou, Björn Fischer, et al. · Molecular Genetics and Metabolism · 77
Identification and characterization of 20 novel pathogenic variants in 60 unrelated Indian patients with mucopolysaccharidoses type I and type II
2016 · A. Uttarilli, P. Ranganath, et al. · Clinical Genetics · 28
Novel and recurrent mutations in WISP3 and an atypical phenotype
2015 · Gandham SriLakshmi Bhavani, Hitesh Shah, et al. · American Journal of Medical Genetics Part A · 27
Fabry disease in India: A multicenter study of the clinical and mutation spectrum in 54 patients
2020 · Sheela Nampoothiri, Dhanya Yesodharan, et al. · JIMD Reports · 22
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Spectrum of SMPD1 mutations in Asian‐Indian patients with acid sphingomyelinase (ASM)‐deficient Niemann–Pick disease
2016 · Prajnya Ranganath, Divya Matta, et al. · American Journal of Medical Genetics Part A · 22
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Mutations in ARSB in MPS VI patients in India
2015 · Juby Mathew, Sujatha M. Jagadeesh, et al. · Molecular Genetics and Metabolism Reports · 20
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Clinical and Molecular Characterization of Prader-Willi Syndrome
2017 · G. N. Sanjeeva, Madhuri Maganthi, et al. · The Indian Journal of Pediatrics · 17
First clinical case of small de novo duplication of 19q (13.3-13.4) confirmed by FISH
2000 · M. Bhat, P.J. Morrison, et al. · American Journal of Medical Genetics · 17
Spectral Domain Optical Coherence Tomography in Detecting Sub-Clinical Retinal Findings in Asian Indian Children with Down Syndrome
2019 · Shwetha Mangalesh, Anand Vinekar, et al. · Current Eye Research · 16
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Does the clinical phenotype of mucolipidosis-IIIγ differ from its αβ counterpart?: supporting facts in a cohort of 18 patients
2018 · Sheela Nampoothiri, Nursel H. Elcioglu, et al. · Clinical Dysmorphology · 16
Telegenetics: The experience of an Indian center (Centre for Human Genetics) during the COVID‐19 pandemic
2021 · Nivedita Rao, Dhanashree Kanago, et al. · Journal of Genetic Counseling · 15
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Late onset Pompe Disease in India – Beyond the Caucasian phenotype
2021 · Ratna Dua Puri, Nitika Setia, et al. · Neuromuscular Disorders · 14
The human face: genes, embryological development and dysmorphology
2020 · Meenakshi Bhat · The International Journal of Developmental Biology · 14
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Gaucher′s disease type III C: Unusual cause of intracardiac calcification
2008 · Sejal Shah, Amit Misri, et al. · Annals of Pediatric Cardiology · 13
The Influence of Suspension Nebulization or Instillation on Particle Uptake by Guinea Pig Alveolar Macrophages
2001 · Sandra Suarez, Masha Kazantseva, et al. · Inhalation Toxicology · 12
Molecular and clinical profiling in a large cohort of Asian Indians with glycogen storage disorders
2022 · Tejashwini Vittal Kumar, Meenakshi Bhat, et al. · PLoS ONE · 11
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Williams syndrome and Ebstein′s anomaly: A rare association
2009 · Sunita Maheshwari, Vishal Changela, et al. · Annals of Pediatric Cardiology · 9
Papillon–Lefèvre Syndrome with Homozygous Nonsense Mutation of Cathepsin C Gene Presenting with Late‐Onset Periodontitis
2014 · Shivanna Ragunatha, Mudalagirigowda Ramesh, et al. · Pediatric Dermatology · 8
Clinical and Molecular Spectrum of Patients with Methylmalonic Acidemia
2023 · Neerja Gupta, Mounika Endrakanti, et al. · The Indian Journal of Pediatrics · 6
Clinical, radiological and molecular studies in 24 individuals with Dyggve-Melchior-Clausen dysplasia and Smith-McCort dysplasia from India
2022 · Kruti Varshney, Sanjeeva Ghanti Narayanachar, et al. · Journal of Medical Genetics · 6
Consanguinity and Chromosomal Abnormalities
2017 · Lakshmi Prabha Subhash R, Anupama D, et al. · International Journal of Anatomy and Research · 5
Spondylocarpotarsal synostosis: A rare case of vertebral segmentation defect
2009 · Siddram J. Patil, Meenakshi Bhat, et al. · The Indian Journal of Pediatrics · 5
Works count: 52
Citation count: 747
H-index: 14
I10-index: 19
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