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. A homozygous hypomorphic BNIP1 variant causes an increase in autophagosomes and reduced autophagic flux and results in a spondylo‐epiphyseal dysplasia. Issue 5 (21st March 2022) Authors: Holling, Tess; Bhavani, Gandham S.; von Elsner, Leonie; Shah, Hitesh; Kausthubham, Neethukrishna; Bhattacharyya, Shaila S.; Shukla, Anju; Mortier, Geert R.; Schinke, Thorsten; Danyukova, Tatyana; Pohl, Sandra; Kutsche, Kerstin; Girisha, Katta M. Journal: Human mutation Issue: Volume 43:Issue 5(2022) Page Start: 625 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
3. A neurodegenerative mitochondrial disease phenotype due to biallelic loss‐of‐function variants in PNPLA8 encoding calcium‐independent phospholipase A2γ. Issue 5 (21st April 2018) Authors: Shukla, Anju; Saneto, Russell P.; Hebbar, Malavika; Mirzaa, Ghayda; Girisha, Katta M. Journal: American journal of medical genetics Issue: Volume 176:Issue 5(2018) Page Start: 1232 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
4. A novel bi‐allelic loss‐of‐function variant in MYOD1: Further evidence for gene‐disease association and phenotypic variability in MYOD1‐related myopathy. Issue 3 (10th July 2019) Authors: Shukla, Anju; Narayanan, Dhanya L.; Asher, Urja; Girisha, Katta M. Journal: Clinical genetics Issue: Volume 96:Issue 3(2019) Page Start: 276 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
5. Additional three patients with Smith‐McCort dysplasia due to novel RAB33B mutations. Issue 3 (27th January 2017) Authors: Salian, Smrithi; Cho, Tae‐Joon; Phadke, Shubha R.; Gowrishankar, Kalpana; Bhavani, Gandham SriLakshmi; Shukla, Anju; Jagadeesh, Sujatha; Kim, Ok‐Hwa; Nishimura, Gen; Girisha, Katta M. Journal: American journal of medical genetics Issue: Volume 173:Issue 3(2017) Page Start: 588 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
6. Bain type of X‐linked syndromic mental retardation in a male with a pathogenic variant in HNRNPH2. Issue 1 (31st October 2019) Authors: Somashekar, Puneeth H.; Narayanan, Dhanya L.; Jagadeesh, Sujatha; Suresh, Beena; Vaishnavi, Reddy D.; Bielas, Stephanie; Girisha, Katta M.; Shukla, Anju Journal: American journal of medical genetics Issue: Volume 182:Issue 1(2020) Page Start: 183 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
7. Biallelic c.1263dupC in DOK7 results in fetal akinesia deformation sequence. Issue 4 (27th December 2019) Authors: Radhakrishnan, Periyasamy; Shukla, Anju; Girisha, Katta M.; Nayak, Shalini S. Journal: American journal of medical genetics Issue: Volume 182:Issue 4(2020) Page Start: 804 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
8. Biallelic start loss variant, c.1A > G in GCSH is associated with variant nonketotic hyperglycinemia. Issue 2 (3rd May 2021) Authors: Majethia, Purvi; Somashekar, Puneeth Hirivate; Hebbar, Malavika; Kadavigere, Rajagopal; Praveen, Balike Krishna; Girisha, Katta Mohan; Shukla, Anju Journal: Clinical genetics Issue: Volume 100:Issue 2(2021) Page Start: 201 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
9. Biallelic variants p.Arg1133Cys and p.Arg1379Cys in COL2A1: Further delineation of phenotypic spectrum of recessive Type 2 collagenopathies. Issue 2 (22nd November 2019) Authors: Girisha, Katta M.; Bhavani, Gandham S.; Shah, Hitesh; Moirangthem, Amita; Shukla, Anju; Kim, Ok‐Hwa; Nishimura, Gen; Mortier, Geert R. Journal: American journal of medical genetics Issue: Volume 182:Issue 2(2020) Page Start: 338 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
10. Bi‐allelic missense variant, p.Ser35Leu in EXOSC1 is associated with pontocerebellar hypoplasia. Issue 4 (28th January 2021) Authors: Somashekar, Puneeth H.; Kaur, Parneet; Stephen, Joshi; Guleria, Vishal Singh; Kadavigere, Rajagopal; Girisha, Katta Mohan; Bielas, Stephanie; Upadhyai, Priyanka; Shukla, Anju Journal: Clinical genetics Issue: Volume 99:Issue 4(2021) Page Start: 594 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗