A rare case of a male child with post-zygotic de novo mosaic variant c.538C > T in MECP2 gene: a case report of Rett syndrome

by Jhanvi Shah, Harsh Patel, Deepika Jain, Frenny Sheth, Harsh Sheth
Published 2021-12-01

A case of Raine syndrome presenting with facial dysmorphy and review of literature

by Jayesh Sheth, Riddhi Bhavsar, Ajit Gandhi, Frenny Sheth, Dhairya Pancholi
Published 2018-05-01

Rare cause of Hemophagocytic Lymphohistiocytosis due to mutation in PRF1 and SH2D1A genes in two children – a case report with a review

by Jayesh Sheth, Akash Patel, Raju Shah, Riddhi Bhavsar, Sunil Trivedi, Frenny Sheth
Published 2019-03-01

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

by Shruti Bajaj, Purnima Satoskar, Aadhira Nair, Frenny Sheth, Jayesh Sheth, Harsh Sheth
Published 2022-02-01

Identification of deletion-duplication in HEXA gene in five children with Tay-Sachs disease from India

by Jayesh Sheth, Mehul Mistri, Lakshmi Mahadevan, Sanjeev Mehta, Dhaval Solanki, Mahesh Kamate, Frenny Sheth
Published 2018-07-01

Mosaic chromosome 18 anomaly delineated in a child with dysmorphism using a three-pronged cytogenetic techniques approach: a case report

by Harsh Sheth, Sunil Trivedi, Thomas Liehr, Ketan Patel, Deepika Jain, Jayesh Sheth, Frenny Sheth
Published 2020-09-01

A novel case of two siblings harbouring homozygous variant in the NEUROG1 gene with autism as an additional phenotype: a case report

by Frenny Sheth, Jhanvi Shah, Ketan Patel, Darshan Patel, Deepika Jain, Jayesh Sheth, Harsh Sheth
Published 2023-01-01

The GALNS p.P77R variant is a probable Gujarati-Indian founder mutation causing Mucopolysaccharidosis IVA syndrome

by Harsh Sheth, Premal Naik, Maulin Shah, Riddhi Bhavsar, Aadhira Nair, Frenny Sheth, Jayesh Sheth
Published 2022-06-01

Gain of Chromosome 4qter and Loss of 5pter: An Unusual Case with Features of Cri du Chat Syndrome

by Frenny Sheth, Naresh Gohel, Thomas Liehr, Olakanmi Akinde, Manisha Desai, Olawaleye Adeteye, Jayesh Sheth
Published 2012-01-01

48th annual meeting and international conference of the Indian Society of Human Genetics 2024: fostering collaborations within rare disease research community

by Jayesh Sheth, Harsh Sheth, Frenny Sheth, Bittianda Kuttapa Thelma, Madhvi Joshi, Inderjeet Kaur, Chaitanya Joshi
Published 2024-04-01

A child with intellectual disability and dysmorphism due to complex ring chromosome 6: identification of molecular mechanism with review of literature

by Frenny Sheth, Thomas Liehr, Viraj Shah, Hillary Shah, Stuti Tewari, Dhaval Solanki, Sunil Trivedi, Jayesh Sheth
Published 2018-10-01

Late infantile and adult‐onset metachromatic leukodystrophy due to novel missense variants in the PSAP gene: Case report from India

by Jayesh Sheth, Aadhira Nair, Riddhi Bhavsar, Heli Shah, Naresh Tayade, C. Ratna Prabha, Frenny Sheth, Harsh Sheth
Published 2023-07-01

Molecular characterization and evaluation of complex rearrangements in a case of ring chromosome 15

by Stuti Tewari, Naznin Lubna, Raju Shah, Ahmed B. H. Al-Rikabi, Krati Shah, Jayesh Sheth, Frenny Sheth
Published 2017-10-01

Biochemical and molecular characterization of adult patients with type I Gaucher disease and carrier frequency analysis of Leu444Pro - a common Gaucher disease mutation in India

by Jayesh Sheth, Dhairya Pancholi, Mehul Mistri, Payal Nath, Chitra Ankleshwaria, Riddhi Bhavsar, Ratna Puri, Shubha Phadke, Frenny Sheth
Published 2018-10-01

Identification of novel mutations in HEXA gene in children affected with Tay Sachs disease from India.

by Mehul Mistri, Parag M Tamhankar, Frenny Sheth, Daksha Sanghavi, Pratima Kondurkar, Swapnil Patil, Susan Idicula-Thomas, Sarita Gupta, Jayesh Sheth
Published 2012-01-01

Late infantile form of multiple sulfatase deficiency with a novel missense variant in the SUMF1 gene: case report and review

by Jayesh Sheth, Siddharth Shah, Chaitanya Datar, Kaveri Bhatt, Pooja Raval, Aadhira Nair, Deepika Jain, Jhanvi Shah, Frenny Sheth, Harsh Sheth
Published 2023-03-01

Expanding the spectrum of HEXA mutations in Indian patients with Tay–Sachs disease

by Jayesh Sheth, Mehul Mistri, Chaitanya Datar, Umesh Kalane, Shekhar Patil, Mahesh Kamate, Harshuti Shah, Sheela Nampoothiri, Sarita Gupta, Frenny Sheth
Published 2014-01-01

Batten disease: biochemical and molecular characterization revealing novel PPT1 and TPP1 gene mutations in Indian patients

by Jayesh Sheth, Mehul Mistri, Riddhi Bhavsar, Dhairya Pancholi, Mahesh Kamate, Neerja Gupta, Madhulika Kabra, Sanjiv Mehta, Sheela Nampoothiri, Arpita Thakker, Vivek Jain, Raju Shah, Frenny Sheth
Published 2018-12-01

Clinical characterization of 72 patients with del(22)(q11.2q11.2) from different ethnic backgrounds

by Luis A. Méndez-Rosado, Norma de León-Ojeda, Alina García, Frenny Sheth, Asmaa Gaadi, Ahmed Aziz Bousfiha, Mouna Lehlimi, Abdelhafid Natiq, Oxana S. Kurinnaia, Svetlana G. Vorsanova, Ivan Iourov, Dagmar Huhle, Thomas Liehr
Published 2022-12-01

Comparative yield of molecular diagnostic algorithms for autism spectrum disorder diagnosis in India: evidence supporting whole exome sequencing as first tier test

by 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
Published 2023-08-01