1. A data set of variants derived from 1455 clinical and research exomes is efficient in variant prioritization for early‐onset monogenic disorders in Indians. Issue 4 (1st March 2021) Authors: Kausthubham, Neethukrishna; Shukla, Anju; Gupta, Neerja; Bhavani, Gandham S.; Kulshrestha, Samarth; Das Bhowmik, Aneek; Moirangthem, Amita; Bijarnia‐Mahay, Sunita; Kabra, Madhulika; Puri, Ratna D.; Mandal, Kausik; Verma, Ishwar C.; Bielas, Stephanie L.; Phadke, Shubha R.; Dalal, Ashwin; Girisha, ... Journal: Human mutation Issue: Volume 42:Issue 4(2021) Page Start: e15 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
2. ANO5‐associated Gnathodiaphyseal dysplasia with calvarial doughnut lesions: First report in an Asian Indian with an expanded phenotype. (15th September 2020) Authors: Sandal, Sapna; Arora, Veronica; Verma, Ishwar C. Journal: Congenital anomalies Issue: Volume 61:Number 1(2021) Page Start: 25 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
3. Do parental perceptions and motivations towards genetic testing and prenatal diagnosis for deafness vary in different cultures?12. Issue 1 (3rd December 2012) Authors: Nahar, Risha; Puri, Ratna D.; Saxena, Renu; Verma, Ishwar C. Journal: American journal of medical genetics Issue: Volume 161:Issue 1(2013:Jan.) Page Start: 76 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
4. Expanding the phenotypic and genotypic spectrum of Wiedemann–Steiner syndrome: First patient from India. Issue 5 (3rd March 2020) Authors: Arora, Veronica; Puri, Ratna D.; Bijarnia‐Mahay, Sunita; Verma, Ishwar C. Journal: American journal of medical genetics Issue: Volume 182:Issue 5(2020) Page Start: 953 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
5. Global perspective of familial hypercholesterolaemia: a cross-sectional study from the EAS Familial Hypercholesterolaemia Studies Collaboration (FHSC). Issue 10312 (6th November 2021) Authors: Vallejo-Vaz, Antonio J.; Stevens, Christophe A.T.; Lyons, Alexander R.M.; Dharmayat, Kanika I.; Freiberger, Tomas; Hovingh, G. Kees; Mata, Pedro; Raal, Frederick J.; Santos, Raul D.; Soran, Handrean; Watts, Gerald F.; Abifadel, Marianne; Aguilar-Salinas, Carlos A.; Alhabib, Khalid F.; Alkhnifsawi... Journal: Lancet Issue: Volume 398:Issue 10312(2021) Page Start: 1713 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
6. High Incidence of Noonan Syndrome Features Including Short Stature and Pulmonic Stenosis in Patients carrying NF1 Missense Mutations Affecting p.Arg1809: Genotype–Phenotype Correlation. Issue 11 (21st August 2015) Authors: Rojnueangnit, Kitiwan; Xie, Jing; Gomes, Alicia; Sharp, Angela; Callens, Tom; Chen, Yunjia; Liu, Ying; Cochran, Meagan; Abbott, Mary‐Alice; Atkin, Joan; Babovic‐Vuksanovic, Dusica; Barnett, Christopher P.; Crenshaw, Melissa; Bartholomew, Dennis W.; Basel, Lina; Bellus, Gary; Ben‐Shachar, Shay; Bi... Journal: Human mutation Issue: Volume 36:Issue 11(2015:Nov.) Page Start: 1052 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
7. Inherited metabolic disorders: prenatal diagnosis of lysosomal storage disorders†. (3rd September 2015) Authors: Verma, Jyotsna; C. Thomas, Divya; Sharma, Sandeepika; Jhingan, Geetu; Saxena, Renu; Kohli, Sudha; Puri, Ratna D.; Bijarnia, Sunita; Verma, Ishwar C. Journal: Prenatal diagnosis Issue: Volume 35:Number 11(2015:Nov.) Page Start: 1137 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
8. KCNQ1 mutations associated with Jervell and Lange–Nielsen syndrome and autosomal recessive Romano–Ward syndrome in India—expanding the spectrum of long QT syndrome type 1. Issue 6 (4th April 2016) Authors: Vyas, Bijal; Puri, Ratna D.; Namboodiri, Narayanan; Nair, Mohan; Sharma, Deepak; Movva, Sireesha; Saxena, Renu; Bohora, Shomu; Aggarwal, Neeraj; Vora, Amit; Kumar, Jatinder; Singh, Tarandeep; Verma, Ishwar C. Journal: American journal of medical genetics Issue: Volume 170:Issue 6(2016) Page Start: 1510 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
9. Noninvasive prenatal testing (NIPT) detects variant of Turner syndrome not detectable by fluorescent in situ hybridization. (17th December 2019) Authors: Eswarachari, Venkataswamy; Kadam, Priya; Movva, Sireesha; Lingaiah, Shruthi; Akther, Riyaz M.; Kidangan, Franics X.; Gowda, Kiran C.; Golakoti, Rudra R. K.; Lall, Meena; Mahajan, Surbhi; Saviour, Pushpa; Puri, Ratna; Verma, Ishwar C.; Vedam, Ramprasad L. Journal: Journal of maternal-fetal & neonatal medicine Issue: Volume 32:Number 24(2019) Page Start: 4177 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
10. Spectrum of mutations in homozygous familial hypercholesterolemia in India, with four novel mutations. (December 2016) Authors: Setia, Nitika; Saxena, Renu; Arora, Anjali; Verma, Ishwar C. Journal: Atherosclerosis Issue: Volume 255(2016) Page Start: 31 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗