1. Characterization of two novel FANCG mutations in Indian Fanconi anemia patients. (February 2017) Authors: Solanki, Avani; Kumar Selvaa, C.; Sheth, Frenny; Radhakrishnan, Nita; Kalra, Manas; Vundinti, Babu Rao Journal: Leukemia research Issue: Volume 53(2017:Feb.) Page Start: 50 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
2. Gain of Chromosome 4qter and Loss of 5pter: An Unusual Case with Features of Cri du Chat Syndrome. (20th December 2012) Authors: Sheth, Frenny; Gohel, Naresh; Liehr, Thomas; Akinde, Olakanmi; Desai, Manisha; Adeteye, Olawaleye; Sheth, Jayesh Other Names: Bunyan D. J. Academic Editor.; Ergul E. Academic Editor.; Fenger M. Academic Editor. Journal: Case reports in genetics Issue: Volume 2012(2012) Page Start: Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
3. GM2 gangliosidosis AB variant: novel mutation from India – a case report with a review. Issue 1 (December 2016) Authors: Sheth, Jayesh; Datar, Chaitanya; Mistri, Mehul; Bhavsar, Riddhi; Sheth, Frenny; Shah, Krati Journal: BMC pediatrics Issue: Volume 16:Issue 1(2016) Page Start: 1 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
4. Novel LINS1 missense mutation in a family with non‐syndromic intellectual disability. Issue 4 (9th February 2017) Authors: Sheth, Jayesh; Ranjan, Gyan; Shah, Krati; Bhavsar, Riddhi; Sheth, Frenny Journal: American journal of medical genetics Issue: Volume 173:Issue 4(2017) Page Start: 1041 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
5. Novel mutation in the XPC gene: a case report of a patient with xeroderma pigmentosum. (30th July 2015) Authors: Sheth, Jayesh; Mistri, Mehul; Bhavsar, Riddhi; Patel, Harsh; Sheth, Frenny Journal: International journal of dermatology Issue: Volume 54:Number 11(2015:Nov.) Page Start: e487 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
6. Prenatal dolichocephaly: Sign of trouble? –A variant of Miller–Dieker syndrome. (10th July 2013) Authors: Kochuvareed Mampilly, Tomy; Tomy Mampilly, George; Chandramohan, Neeradha; Velayutham, Murugan; Sheth, Jayesh; Sheth, Frenny; Janaki, Vijayalakshmy Journal: Fetal and pediatric pathology Issue: Volume 32:Number 4(2013) Page Start: 308 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
7. Pulmonary manifestations in Niemann-Pick type C disease with mutations in NPC2 gene: case report and review of literature. Issue 1 (December 2017) Authors: Sheth, Jayesh; Joseph, Jijo; Shah, Krati; Muranjan, Mamta; Mistri, Mehul; Sheth, Frenny Journal: BMC medical genetics Issue: Volume 18:Issue 1(2017) Page Start: 1 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗