Search

Author/Creator Bhavani, Gandham S.

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. Biallelic loss‐of‐function variants in EXOC6B are associated with impaired primary ciliogenesis and cause spondylo‐epi‐metaphyseal dysplasia with joint laxity type 3. Issue 12 (8th October 2022)

Authors:
Simsek‐Kiper, Pelin Ozlem; Jacob, Prince; Upadhyai, Priyanka; Taşkıran, Zihni Ekim; Guleria, Vishal S.; Karaosmanoglu, Beren; Imren, Gozde; Gocmen, Rahsan; Bhavani, Gandham S.; Kausthubham, Neethukrishna; Shah, Hitesh; Utine, Gulen Eda; Boduroglu, Koray; Girisha, Katta M.
Journal:
Human mutation
Issue:
Volume 43:Issue 12(2022)
Page Start:
2116
Record Type:
Journal Article
View Content:
Available online (eLD content is only available in our Reading Rooms) ↗

4. 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) ↗