Dr Ami Rajesh Shah
Dr Ami is a Paediatrician and Clinical Geneticist with interest on the field of Neurogenetics, Neurometabolic disorders, Fetal genetics and autopsy and Genetic Academics.
EN1 Neuro Services Pvt Ltd, Kurla, Mumbai, Clinical assistant in Neurology, Consultant Pediatric Geneticist
Maniar Clinic, Andheri (W), Mumbai, Pediatric Clinical assistant
Nanavati Super Specialty Hospital, Vile Parle (W), Mumbai, Consultant Clinical Genetics
Surya Hospitals, Santacruz (W), Mumbai, Bai Jerbai Wadia Hospital for Children, Parel, Mumbai.
LifeCell International Pvt. Ltd, Advisor, Clinical genetics.
Award winning Presentations at National/International meetings:
1.Scaling the diagnosis: A case of syndromic Mendelian Disorder of Cornification.
Oral presentation, IAMGCON, Jodhpur, India in December 2015
2.Aicardi goutiere syndrome - expanding the phenotypic spectrum.
Poster presentation, ICNC 2018 Mumbai, India. November 2018
3.X- linked infantile epileptic encephalopathy due to SMC1A truncating mutation - an emerging phenotypic syndrome.Poster presentation, ICNC 2018 Mumbai, India. November 2018
She also published journals, books and handbooks on the field of genetics.