Shruti Bajaj - The Purple Gene Clinic

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论文共 21 篇作者统计合作学者相似作者

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Biallelic Variant, C.644-13_644-9del in UNC50 is Associated with Congenital Myasthenia Syndrome

Mangalore S Shravya, Greeshma Purushothama,Periyasamy Radhakrishnan,Malavika Hebbar, Shyamala Guruvare,Mary Mathew, Gandham SriLakshmi Bhavani,Shruti Bajaj,Katta M Girisha,Anju Shukla, Shalini S Nayak

American journal of medical genetics Part App.e64086-e64086, (2025)

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Burden of Rare Genetic Disorders in India: Twenty-Two Years’ Experience of a Tertiary Centre

Jayesh Sheth,Aadhira Nair,Frenny Sheth, Manali Ajagekar, Tejasvi Dhondekar,Inusha Panigrahi,Ashish Bavdekar,Sheela Nampoothiri,Chaitanya Datar,Ajit Gandhi,Mamta Muranjan,Anupriya Kaur,Manisha Desai,Mehul Mistri, Chitra Patel,Premal Naik,Maulin Shah,Koumudi Godbole,Seema Kapoor,Neerja Gupta,Sunita Bijarnia-Mahay, Sandeep Kadam,Dhaval Solanki, Soham Desai,Anand Iyer,Ketan Patel,Harsh Patel,Raju C. Shah, Shalmi Mehta, Ruchi Shah,Riddhi Bhavsar,Jhanvi Shah, Mili Pandya, Bhagyadhan Patel,Sudhir Shah,Heli Shah,Shalin Shah,Shruti Bajaj,Siddharth Shah, Nilam Thaker,Umesh Kalane,Mahesh Kamate,Vykunta Raju KN,Naresh Tayade, Sujatha Jagadeesan,Deepika Jain,Mitesh Chandarana, Jitendra Singh,Sanjiv Mehta,Beena Suresh,Harsh Sheth

ORPHANET JOURNAL OF RARE DISEASESno. 1 (2024)

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Lysosomal Storage Disorders Identified in Adult Population from India: Experience of a Tertiary Genetic Centre and Review of Literature

Jayesh Sheth,Aadhira Nair,Riddhi Bhavsar,Koumudi Godbole,Chaitanya Datar,Sheela Nampoothiri,Inusha Panigrahi,Heli Shah,Shruti Bajaj,Naresh Tayade, Naveen Bhardwaj,Harsh Sheth

JIMD REPORTSno. 2 (2024): 85-101

引用1浏览0WOS引用

Development, Validation and Application of Single Molecule Molecular Inversion Probe Based Novel Integrated Genetic Screening Method for 29 Common Lysosomal Storage Disorders in India

Harsh Sheth,Aadhira Nair,Riddhi Bhavsar,Mahesh Kamate,Vykuntaraju K. Gowda,Ashish Bavdekar, Sandeep Kadam,Sheela Nampoothiri,Inusha Panigrahi,Anupriya Kaur,Siddharth Shah,Sanjeev Mehta, Sujatha Jagadeesan,Indrani Suresh,Seema Kapoor,Shruti Bajaj,Radha Rama Devi, Ashka Prajapati,Koumudi Godbole,Harsh Patel, Zulfiqar Luhar,Raju C. Shah,Anand Iyer,Sunita Bijarnia,Ratna Puri,Mamta Muranjan, Ami Shah,Suvarna Magar,Neerja Gupta,Naresh Tayade,Ajit Gandhi, Ajit Sowani, Shrutikaa Kale,Anil Jalan,Dhaval Solanki,Ashwin Dalal,Shrikant Mane,C. Ratna Prabha,Frenny Sheth,Chaitanya G. Joshi,Madhvi Joshi,Jayesh Sheth

Human Genomicsno. 1 (2024): 1-20

引用2浏览0WOS引用

KBG Syndrome in 16 Indian Individuals

Shruti Bajaj,Sheela Nampoothiri, Roshni Chugh,Jayesh Sheth,Frenny Sheth,Harsh Sheth, Vinu Narayan, Ameya Deshpande, Anaita Hegde,Aradhana Dwivedi, Dhanya Yeshodharan, Indu Khosla,Madhukar Mittal, Mahesh Kore,Vedam Ramprasad, C. Anbu Kayalvizhi,Katta M. Girisha

American journal of medical genetics Part Ano. 2 (2024): e63907-e63907

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Genetic and Allelic Heterogeneity in 248 Indians with Skeletal Dysplasia

Prince Jacob, Swati Singh,Gandham SriLakshmi Bhavani,Kalpana Gowrishankar,Dhanya Lakshmi Narayanan,Sheela Nampoothiri,S. J. Patil,J. P. Soni,Mamta Muranjan,Seema Kapoor,Bhavna Dhingra, Ballambattu Vishnu Bhat,Shruti Bajaj,Amrita Banerjee, Mahabaleshwar Mamadapur,Sankar V. Hariharan,Nutan Kamath,Rathika D. Shenoy,Deepti Suri,Anju Shukla,Ashwin Dalal,Shubha R. Phadke,Gen Nishimura,Geert Mortier,Hitesh Shah,Katta M. Girisha

EUROPEAN JOURNAL OF HUMAN GENETICS (2024)

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De Novo Variants Underlying Monogenic Syndromes with Intellectual Disability in a Neurodevelopmental Cohort from India

European Journal of Human Geneticspp.1-8, (2023)

引用1浏览0WOSNATURE引用

Comparative Yield of Molecular Diagnostic Algorithms for Autism Spectrum Disorder Diagnosis in India: Evidence Supporting Whole Exome Sequencing As First Tier Test

Frenny Sheth,Jhanvi Shah,Deepika Jain,Siddharth Shah,Harshkumar Patel,Ketan Patel,Dhaval I Solanki,Anand S Iyer,Bhargavi Menghani, Priti Mhatre,Sanjiv Mehta,Shruti Bajaj, Vishal Patel, Manoj Pandya,Deepak Dhami,Darshan Patel,Jayesh Sheth,Harsh Sheth

BMC NEUROLOGYno. 1 (2023)

引用7浏览0WOS引用

An Ultra-Rare Case of Immunoskeletal Dysplasia with Neurodevelopmental Abnormalities in an Indian Patient with Homozygous C.953c > T Variant in EXTL3 Gene: a Case Report

Bajaj Shruti,Satoskar Purnima,Nair Aadhira,Sheth Frenny,Sheth Jayesh,Sheth Harsh

BMC pediatrics（2022）

引用4浏览0WOS引用

A Variant in SLC25A4 Leads to Mitochondrial DNA-Depletion Syndrome-12A Causing Neonatal Hypotonia and Hypoventilation

Kishore Pratap Sanghvi,Shruti Bajaj, Sonal Mirani

JOURNAL OF PEDIATRIC NEUROLOGY（2022）

引用1浏览0引用

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