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Shubha Rao Phadke (Shubha R Phadke, Shubha Phadke, Shubha R Phadke)

Scopus Author ID ORCID

Publication Activity (10 Years)

Years Active: 2017-2023
Publications (10 Years): 32

Top Venues

American journal of medical genetics. Part A

Indian journal of pediatrics

Neurogenetics

Journal of medical genetics

Sanjay Gandhi Post Graduate Institute of Medical Sciences

This page only lists publications with an associated author ORCID identifier.

Affiliation History

Sanjay Gandhi Post Graduate Institute of Medical Sciences Apr 26o 1996

India

Professor and Head of the Department :: Medical Genetics

Publications

Deepti Saxena, Somya Srivastava, Rajesh K Maurya, Amita Moirangthem, Kausik Mandal, Shubha Rao Phadke
Retrospective diagnosis by parental testing in the next generation sequencing era and utility of reanalysis of exome data. Prenatal diagnosis (2023)
Arya Shambhavi, Amita Moirangthem, Manmohan Pandey, Shubha Rao Phadke
Complex Hereditary Spastic Paraparesis Caused by de novo p.Arg480Ser in FAR1. Indian journal of pediatrics (2023)
Amit K Tiwari, Varunvenkat M Srinivasan, Shubha Rao Phadke, Deepti Saxena
Variants in DOK7 results in fetal akinesia deformation sequence: A case report and review of literature. Clinical genetics (2023)
Haseena Sait, Somya Srivastava, Manmohan Pandey, Deepak Ravichandran, Anju Shukla, Kausik Mandal, Deepti Saxena, Arya Shambhavi, Purvi Majethia, Lakshmi Priya Rao, Suvasini Sharma, Shubha Rao Phadke, Amita Moirangthem
Neurodegeneration with brain iron accumulation: a case series highlighting phenotypic and genotypic diversity in 20 Indian families. Neurogenetics (2023)
Ranjana Mishra, Samarth Kulshreshtha, Kausik Mandal, Ashok Khurana, Dan Diego-Álvarez, Laura Pradas, Renu Saxena, Shubha Rao Phadke, Amita Moirangthem, Suzena Masih, Seema Sud, Ishwar Chandar Verma, Ratna Dua Puri
COASY related pontocerebellar hypoplasia type 12: A common Indian mutation with expansion of the phenotypic spectrum. American journal of medical genetics. Part A 188 (8) (2022)
Haseena Sait, Arya Shambhavi, Manmohan Pandey, Deepak Ravichandran, Shubha Rao Phadke
T2 olivary nuclei hyperintensities: A characteristic neuroimaging finding in FIG4-related leukoencephalopathy. American journal of medical genetics. Part A 191 (3) (2022)
Haseena Sait, Arya Shambhavi, Manmohan Pandey, Deepak Ravichandran, Shubha Rao Phadke
T2 olivary nuclei hyperintensities: A characteristic neuroimaging finding in FIG4-related leukoencephalopathy. American journal of medical genetics. Part A 191 (3) (2022)
Haseena Sait, Arya Shambhavi, Manmohan Pandey, Deepak Ravichandran, Shubha Rao Phadke
T2 olivary nuclei hyperintensities: A characteristic neuroimaging finding in FIG4 related leukoencephalopathy. American journal of medical genetics. Part A (2022)
Haseena Sait, Amita Moirangthem, Vinita Agrawal, Shubha Rao Phadke
Autosomal recessive spinocerebellar ataxia-20 due to a novel SNX14 variant in an Indian girl. American journal of medical genetics. Part A 188 (6) (2022)
Kruti Varshney, Sanjeeva Ghanti Narayanachar, Katta M Girisha, Gandham SriLakshmi Bhavani, Dhanyalakshmi Narayanan, Shubha Rao Phadke, Sheela Nampoothiri, Gautham Arunachal Udupi, Palany Raghupathy, Mohandas Nair, Thenral S Geetha, Meenakshi Bhat
Clinical, radiological and molecular studies in 24 individuals with Dyggve-Melchior-Clausen dysplasia and Smith-McCort dysplasia from India. Journal of medical genetics (2022)
Haseena Sait, Arya Shambhavi, Manmohan Pandey, Deepak Ravichandran, Shubha Rao Phadke
T2 olivary nuclei hyperintensities: A characteristic neuroimaging finding in FIG4-related leukoencephalopathy. American journal of medical genetics. Part A 191 (3) (2022)
Neerja Gupta, Ravneet Kaur, Shubha Rao Phadke, Pankaj Sharma, Sheela Nampoothiri, Deepti Saxena, Madhulika Kabra
Monosomy 1p36: Report of a cohort of 13 Asian Indian patients. American journal of medical genetics. Part A 188 (4) (2022)
Benjamin D Solomon, Margaret P Adam, Chin-To Fong, Katta Mohan Girisha, Judith G Hall, Anna C E Hurst, Peter M Krawitz, Shahida Moosa, Shubha Rao Phadke, Cedrik Tekendo-Ngongang, Tara L Wenger
Perspectives on the future of dysmorphology. American journal of medical genetics. Part A (2022)
Haseena Sait, Lokesh Sharma, Preeti Dabadghao, Shubha Rao Phadke
Congenital Hyperinsulinemia of Infancy: Role of Molecular Testing in Management and Genetic Counseling. Indian journal of pediatrics 89 (4) (2022)
Haseena Sait, Arya Shambhavi, Manmohan Pandey, Deepak Ravichandran, Shubha Rao Phadke
T2 olivary nuclei hyperintensities: A characteristic neuroimaging finding in FIG4 related leukoencephalopathy. American journal of medical genetics. Part A (2022)
Prince Jacob, Gandham Sri Lakshmi Bhavani, Hitesh Shah, Chelna Galada, Sheela Nampoothiri, Nutan Kamath, Shubha Rao Phadke, Mamta Muranjan, Chaitanya A Datar, Anju Shukla, Katta Mohan Girisha
Pseudoachondroplasia: Phenotype and genotype in 11 Indian patients. American journal of medical genetics. Part A (2021)
Archana Rai, Siddaramappa Jagdish Patil, Priyanka Srivastava, Kalpana Gaurishankar, Shubha Rao Phadke
Clinical and molecular characterization of four patients with Robinow syndrome from different families. American journal of medical genetics. Part A 185 (4) (2021)
Mayank Nilay, Priyanka Srivastava, Archana Rai, Shubha Rao Phadke
Partial Trisomy of Chromosome 8q and Partial Monosomy of Chromosome 6p with Robinow Syndrome-Like Phenotype. Indian journal of pediatrics 88 (8) (2021)
Suzena Masih, Amita Moirangthem, Shubha Rao Phadke
Twins with PEX7 related intellectual disability and cataract: Highlighting phenotypes of peroxisome biogenesis disorder 9B. American journal of medical genetics. Part A 185 (5) (2021)
Ajay Kumar Chaudhary, Aishwarya Gholse, Hampapathalu Adimurthy Nagarajaram, Ashwin Bhikaji Dalal, Neerja Gupta, Atanu Kumar Dutta, Sumita Danda, Rekha Gupta, Hariharan V Sankar, Gandham SriLakshmi Bhavani, Katta Mohan Girisha, Shubha Rao Phadke, Prajnya Ranganath, Murali Dharan Bashyam
Ectodysplasin pathogenic variants affecting the furin-cleavage site and unusual clinical features define X-linked hypohidrotic ectodermal dysplasia in India. American journal of medical genetics. Part A (2021)
Neha Agrawal, Ravi Kumar, Suzena Masih, Priyanka Srivastava, Parshw Singh, Sushil Kumar Jaiswal, Amita Moirangthem, Deepti Saxena, Shubha Rao Phadke, Kausik Mandal
Molecular analysis of severe hemophilia B in Indian families: Identification of mutational hotspot and novel variants. International journal of laboratory hematology (2021)
Haseena Sait, Harikrishnan Gangadharan, Aviral Gupta, Amita Aggarwal, Manoj Jain, Shubha Rao Phadke
Monogenic Lupus with IgA Nephropathy Caused by Spondyloenchondrodysplasia with Immune Dysregulation. Indian journal of pediatrics 88 (8) (2021)
Amita Moirangthem, Kausik Mandal, Deepti Saxena, Priyanka Srivastava, Poonam Singh Gambhir, Neha Agrawal, Arya Shambhavi, Sheela Nampoothiri, Shubha Rao Phadke
Genetic heterogeneity of disorders with overgrowth and intellectual disability: Experience from a center in North India. American journal of medical genetics. Part A 185 (8) (2021)
Amita Moirangthem, Shubha Rao Phadke
Novel FOXP1 pathogenic variants in two Indian subjects with syndromic intellectual disability. American journal of medical genetics. Part A 185 (4) (2021)
Mayank Nilay, Amita Moirangthem, Deepti Saxena, Kausik Mandal, Shubha Rao Phadke
Carrier frequency of SMN1-related spinal muscular atrophy in north Indian population: The need for population based screening program. American journal of medical genetics. Part A 185 (1) (2020)
Katta Mohan Girisha, Shruti Pande, Ashwin B Dalal, Shubha Rao Phadke
Untapped opportunities for rare disease gene discovery in India. American journal of medical genetics. Part A 182 (12) (2020)
Katherine A Rauen, Abeer Alsaegh, Shay Ben-Shachar, Yemima Berman, Jaishri Blakeley, Isabel Cordeiro, Ype Elgersma, D Gareth Evans, Michael J Fisher, Ian M Frayling, Joshi George, Susan M Huson, Bronwyn Kerr, Uday Khire, Bruce Korf, Eric Legius, Ludwine Messiaen, Rick van Minkelen, Sheela Nampoothiri, Joanne Ngeow, Luis F Parada, Shubha Rao Phadke, Ashok Pillai, Scott R Plotkin, Ratna Puri, Anup Raji, Vijaya Ramesh, Nancy Ratner, Suma P Shankar, Sheetal Sharda, Anant Tambe, Miikka Vikkula, Brigitte C Widemann, Pierre Wolkenstein, Meena Upadhyaya
First International Conference on RASopathies and Neurofibromatoses in Asia: Identification and advances of new therapeutics. American journal of medical genetics. Part A 179 (6) (2019)
Leah Ke'ala'aumoe Dowsett, Antonio R Porras, Paul S Kruszka, Brandon Davis, Tommy Hu, Engela Honey, Eben Badoe, Meow-Keong Thong, Eyby Leon, Katta Mohan Girisha, Anju Shukla, Shalini S Nayak, Vorasuk Shotelersuk, Andre Megarbane, Shubha Rao Phadke, Nirmala D Sirisena, Vajira H W Dissanayake, Carlos R Ferreira, Monisha S Kisling, Pranoot Tanpaiboon, Annette Uwineza, Leon Mutesa, Cedrik Tekendo-Ngongang, Ambroise Wonkam, Karen Fieggen, Leticia Cassimiro Batista, Danilo Moretti-Ferreira, Roger E Stevenson, Eloise J Prijoles, David B Everman, Kate Clarkson, Jessica Worthington, Virginia E Kimonis, Fuki Hisama, Carol Crowe, Paul Wong, Kisha Johnson, Robin D Clark, Lynne Bird, Diane Masser-Frye, Marie McDonald, Patrick Willems, Elizabeth Roeder, Sulgana Saitta, Kwame Anyane-Yeoba, Laurie Demmer, Naoki Hamajima, Zornitza Stark, Greta Gillies, Louanne Hudgins, Usha Dave, Stavit Shalev, Victoria Siu, Ann Ades, Holly Dubbs, Sarah Raible, Maninder Kaur, Emanuela Salzano, Laird Jackson, Matthew Deardorff, Antonie D Kline, Marshall Summar, Maximilian Muenke, Marius George Linguraru, Ian D Krantz
Cornelia de Lange syndrome in diverse populations. American journal of medical genetics. Part A 179 (2) (2019)
Suzena Masih, Amita Moirangthem, Shubha Rao Phadke
Renpenning syndrome in an Indian patient. American journal of medical genetics. Part A 182 (2) (2019)
Paul S Kruszka, Yonit A Addissie, Cedrik Tekendo-Ngongang, Kelly L Jones, Sarah K Savage, Neerja Gupta, Nirmala D Sirisena, Vajira H W Dissanayake, C Sampath Paththinige, Teresa Aravena, Sheela Nampoothiri, Dhanya Yesodharan, Katta Mohan Girisha, Siddaramappa Jagdish Patil, Saumya Shekhar Jamuar, Jasmine Chew-Yin Goh, Agustini Utari, Nydia Sihombing, Rupesh Mishra, Neer Shoba Chitrakar, Brenda C Iriele, Ezana Lulseged, Andre Megarbane, Annette Uwineza, Elizabeth Eberechi Oyenusi, Oluwarotimi Bolaji Olopade, Olufemi Adetola Fasanmade, Milagros M Duenas-Roque, Meow-Keong Thong, Joanna Y L Tung, Gary T K Mok, Nicole Fleischer, Godfrey M Rwegerera, María Beatriz de Herreros, Johnathan Watts, Karen Fieggen, Victoria Huckstadt, Angélica Moresco, María Gabriela Obregon, Dalia Farouk Hussen, Neveen A Ashaat, Engy A Ashaat, Brian H Y Chung, Eben Badoe, Sultana M H Faradz, Mona O El Ruby, Vorasuk Shotelersuk, Ambroise Wonkam, Ekanem Nsikak Ekure, Shubha Rao Phadke, Antonio Richieri-Costa, Maximilian Muenke
Turner syndrome in diverse populations. American journal of medical genetics. Part A 182 (2) (2019)
Archana Rai, Dhanya Lakshmi Narayanan, Shubha Rao Phadke
Malan syndrome: Extension of genotype and phenotype spectrum. American journal of medical genetics. Part A 176 (12) (2018)
Anjana Kar, Shubha Rao Phadke, Aneek Das Bhowmik, Ashwin B Dalal
Whole exome sequencing reveals a mutation in ARMC9 as a cause of mental retardation, ptosis, and polydactyly. American journal of medical genetics. Part A 176 (1) (2017)

Shubha Rao Phadke.css-eqlu8i{font-size:small;padding-left:4px;} (Shubha R Phadke, Shubha Phadke, Shubha R Phadke)

Publication Activity (10 Years)

Top Topics

Top Venues

Shubha Rao Phadke (Shubha R Phadke, Shubha Phadke, Shubha R Phadke)