1. A bi‐allelic missense change c.638A > G in matrix metalloproteinase 15 in a patient with progressive familial intrahepatic cholestasis without cardiac anomalies. Issue 3 (28th November 2022) Authors: Nampoothiri, Sheela; Dsouza, Jeanne Maria; Yesodharan, Dhanya; Girisha, Katta M.; Eapen, Malini; Sivasankaran Nair, Sajitha; Pillai, Bhanu Vikraman; Radhakrishnan, Periyasamy Journal: Clinical genetics Issue: Volume 103:Issue 3(2023) Page Start: 369 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
2. A celebration in honor of John M. Graham, Jr, MD, ScD. Issue 9 (10th July 2021) Authors: D'Cunha Burkardt, Deepika; Sanchez‐Lara, Pedro A.; Girisha, Katta M.; Golden, Jeffrey A.; Carey, John C. Other Names: Burkardt Deepika D'Cunha guestEditor.; Sanchez‐Lara Pedro A guestEditor.; Girisha Katta M guestEditor.; Carey John C guestEditor. Journal: American journal of medical genetics Issue: Volume 185:Issue 9(2021) Page Start: 2617 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
3. 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) ↗
4. 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) ↗
5. 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) ↗
6. A novel biallelic variant c.2219T > A p.(Leu740*) in ADGRG6 as a cause of lethal congenital contracture syndrome 9. Issue 1 (9th October 2022) Authors: Shravya, Mangalore S.; Mathew, Mary; Vasudeva, Akhila; Girisha, Katta M.; Nayak, Shalini S. Journal: Clinical genetics Issue: Volume 103:Issue 1(2023) Page Start: 127 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
7. 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) ↗
8. A novel EDARADD 5′‐splice site mutation resulting in activation of two alternate cryptic 5′‐splice sites causes autosomal recessive Hypohidrotic Ectodermal Dysplasia. Issue 6 (15th March 2016) Authors: Chaudhary, Ajay K.; Girisha, Katta M.; Bashyam, Murali D. Journal: American journal of medical genetics Issue: Volume 170:Issue 6(2016) Page Start: 1639 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
9. A novel mutation (g.106737G>T) in zone of polarizing activity regulatory sequence (ZRS) causes variable limb phenotypes in Werner mesomelia. Issue 4 (29th January 2014) Authors: Girisha, Katta M.; Bidchol, Abdul Mueed; Kamath, Preeti S.; Shah, Krupa H.; Mortier, Geert R.; Mundlos, Stefan; Shah, Hitesh Journal: American journal of medical genetics Issue: Volume 164:Issue 4(2014.) Page Start: 898 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
10. A syndrome of facial dysmorphism, cubital pterygium, short distal phalanges, swan neck deformity of fingers, and scoliosis. Issue 4 (23rd January 2014) Authors: Girisha, Katta M.; Abdollahpour, Hengameh; Shah, Hitesh; Bhavani, Gandham SriLakshmi; Graham, John M.; Boggula, Vijay Raju; Phadke, Shubha R.; Kutsche, Kerstin Journal: American journal of medical genetics Issue: Volume 164:Issue 4(2014.) Page Start: 1035 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗