Kishankumar Chudasama | University of Bergen

Kishankumar

Chudasama

PhD Candidate

Visit Address:

Barneklinikken 3. etg

Bergen

Room:

3008

Postal Address:

Postboks 7804

5021 Bergen

E-mail:

Journal articles

Chudasama, Kishan Kumar; Winnay, Jonathan; Johansson, Stefan; Claudi, Tor; König, Rainer; Haldorsen, Ingfrid S.; Johansson, Bente Berg; Woo, Ju Rang; Aarskog, Dagfinn; Sagen, Jørn V.; Kahn, C. Ronald; Molven, Anders; Njølstad, Pål Rasmus. 2013. SHORT syndrome with partial lipodystrophy due to impaired phosphatidylinositol 3 kinase signaling. American Journal of Human Genetics. 93: 150-157. doi: 10.1016/j.ajhg.2013.05.023
Eifes, Serge; Chudasama, Kishan Kumar; Molnes, Janne; Wagner, Kerstin; Hoang, Tuyen; Schierloh, Ulrike; Rocour-Brumioul, Danielle; Johansson, Stefan; Njølstad, Pål Rasmus; de Beaufort, Carine. 2013. A novel GATA6 mutation in a child with congenital heart malformation and neonatal diabetes. Clinical Case Reports. 1: 86-90. doi: 10.1002/ccr3.33

Johansson, Stefan; Irgens, Henrik Underthun; Chudasama, Kishankumar; Molnes, Janne; Aerts, Jan; Roque, Francisco; Jonassen, Inge; Levy, Shawn; Lima, Kari; Knappskog, Per; Bell, Graeme I.; Molven, Anders; Njølstad, Pål Rasmus. 2012. Exome sequencing and genetic testing for MODY. PLoS ONE. 7. 8 pages. doi: 10.1371/journal.pone.0038050

Reports and theses

Chudasama, Kishan Kumar. 2014. A Genome-Wide Approach to Monogenic Diabetes Syndromes. University of Bergen.

Chudasama, Kishankumar. 2009. Activation of p21WAFI/CIP1 by ARNT and HIF-α proteins. Institutt for biomedisin, Universitetet i Bergen.

Johansson S., Irgens H., Chudasama KK., Molnes, J., Aerts J., Roque F.S., Jonassen I., Levy S., Lima K., Knappskog P.M., Bell G.I., Molven A., Njolstad P.R., Exome sequencing and genetic testing for MODY. PLoS One, 2012. 7(5): p. e38050.

Current projects

"A whole-genome approach to monogenic diabetes: Copy number variation and exome sequencing"