FACULTY


Dr. Meenakshi Bhat MD, DCh, DNB, MRCP (Ire)

CCST-Clinical Genetics (UK)
MBBS - Mysore University - 1987
MD - Paediatrics from Mumbai University - 1992
Postgraduate degree in Paediatrics from the
Diplomate of National Board (DNB) and
Diploma in Child Health (DCh) - 1991 MRCP (Paediatrics)
- UK - 1998
Worked as Consultant in Clinical Genetics at
Guy's & St. Thomas' hospital, London


E-mail:

bhat.meena@gmail.com



Areas of interest:

Clinical genetics including clinical dysmorphology; syndromes associated with congenital heart disease and genetic counseling.



Diagnostic services:

Clinical diagnostic and counseling services for genetic disorders.


Selected publications:


1. Stephen R.F. Twigg, Sarah L. Versnel, Gudrun Nurnberg, Melissa M. Lees, Meenakshi Bhat, Peter Hammond, Raoul C.M. Hennekam, A. Jeannette M. Hoogeboom, Jane A. Hurst, David Johnson, Alexis A. Robinson, Peter J. Scambler, Dianne Gerrelli, Peter Nurnberg, Irene M.J. Mathijssen, and Andrew O.M. Wilkie. Frontorhiny, a Distinctive Presentation of Frontonasal Dysplasia Caused by Recessive Mutations in the ALX3 Homeobox Gene. American Journal of Human Genetics 84:1-8 (2009).
2. Changela VP, Bhat M, Maheshwari S. Williams syndrome and Ebstein anomaly a rare association. Annals of Paed Cardiology, 2:165-166 (2009).
3.Anna M. Vaccaro, Marialetizia Motta, Massimo Tatti, Susanna Scarpa, Laura Masuelli, Meenakshi Bhat, Marie T. Vanier , Anna Tylki-Szymanska., and Rosa Salvioli. Saposin C mutations in Gaucher disease patients resulting in lysosomal lipid accumulation, Saposin C deficiency, but normal prosaposin processing and sorting. Hum Mol Genet 19:2987-97 (2010).
4. The practice of Genetic counseling in India, Meenakshi Bhat, chapter in 'GENOMICS AND HEALTH IN THE DEVELOPING WORLD' Edited by Professor Dhavendra Kumar, Cardiff University School of Medicine, UK, Oxford Monographs in Medical Genetics, Oxford University Press, New York, 201
5. Dimopoulou A, Fischer B, Gardeitchik T, Schrter P, Kayserili H, Schlack C, Li Y, Brum JM, Barisic I, Castori M, Spaich C, Fletcher E, Mahayri Z, Bhat M, Girisha KM, Lachlan K, Johnson D, Phadke S, Gupta N, Simandlova M, Kabra M, David A, Nijtmans L, Chitayat D, Tuysuz B, Brancati F, Mundlos S, Van Maldergem L, Morava E, Wollnik B, Kornak U Genotype-phenotype spectrum of PYCR1-related autosomal recessive cutis laxa. Mol Genet Metab. 2013 Nov;110(3):352-61. doi: 10.1016/j.ymgme.2013.08.009.
6. Makrythanasis P, van Bon B, Steehouwer M, Rodrguez-Santiago B, Simpson M, Dias P, Anderlid B, Arts P, Bhat M, Augello B, Biamino E, Bongers E, Del Campo M, Cordeiro I, Cueto-Gonzlez A, Cusc I, Deshpande C, Frysira E, Izatt L, Flores R, Galn E, Gener B, Gilissen C, Granneman S, Hoyer J, Yntema H, Kets C, Koolen D, Marcelis C, Medeira A, Micale L, Mohammed S, de Munnik S, Nordgren A, Psoni S, Reardon W, Revencu N, Roscioli T, Ruiterkamp-Versteeg M, Santos H, Schoumans J, Schuurs-Hoeijmakers J, Silengo M, Toledo L, Vendrell T, van der Burgt I, van Lier B, Zweier C, Reymond A, Trembath R, Perez-Jurado L, Dupont J, de Vries B, Brunner H, Veltman J, Merla G, Antonarakis S, Hoischen A. MLL2 mutation detection in 86 patients with Kabuki syndrome: a genotype-phenotype study. Clin Genet. 2013 Dec;84(6):539-45. doi: 10.1111/cge.12081.