K
Krati Shah
Researcher at Christian Medical College & Hospital
Publications - 16
Citations - 156
Krati Shah is an academic researcher from Christian Medical College & Hospital. The author has contributed to research in topics: Cytogenetics & Population. The author has an hindex of 7, co-authored 16 publications receiving 120 citations.
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Journal ArticleDOI
Mutations in the Prostaglandin Transporter SLCO2A1 Cause Primary Hypertrophic Osteoarthropathy with Digital Clubbing
Jutta Busch,Valeska Frank,Nadine Bachmann,Atoshi Otsuka,Vinzenz Oji,Dieter Metze,Krati Shah,Sumita Danda,Bernhard Watzer,Heiko Traupe,Hanno J. Bolz,Kenji Kabashima,Carsten Bergmann +12 more
Journal ArticleDOI
GM2 gangliosidosis AB variant: novel mutation from India – a case report with a review
TL;DR: Children with phenotypic presentation as GM2 gangliosidosis (Tay-Sachs or Sandhoff disease) and normal enzyme activity of β-hexosaminidase-A and -B in leucocytes need to be investigated for GM2 activator protein deficiency.
Journal ArticleDOI
Pulmonary manifestations in Niemann-Pick type C disease with mutations in NPC2 gene: case report and review of literature.
TL;DR: This study demonstrates that NPC2 can present in early years of life with pulmonary complications like alveolar proteinosis and hepatosplenomegaly or hepatomeGaly due to mutation in NPC2 gene.
Book ChapterDOI
Lysosomal Storage Disorders in Nonimmune Hydrops Fetalis (NIHF): An Indian Experience
TL;DR: Most frequent causes of LSDs presenting as NIHF in Indian population are elucidated to aid the clinician in providing accurate genetic counseling and prenatal diagnosis to the patients and help in subsequent pregnancies to the families.
Journal ArticleDOI
Multi-gene testing in neurological disorders showed an improved diagnostic yield: data from over 1000 Indian patients
Aparna Ganapathy,Avshesh Mishra,Megha Rani Soni,Priyanka Kumar,Mukunth Sadagopan,Anil Vittal Kanthi,Irene Rosita Pia Patric,Sobha George,Aparajit Sridharan,T C Thyagarajan,S L Aswathy,H K Vidya,Swathi M Chinnappa,Swetha Nayanala,Manasa B Prakash,Vijayashree Gauribidanur Raghavendrachar,Minothi Parulekar,Vykuntaraju K Gowda,Sheela Nampoothiri,Ramshekhar N. Menon,Divya Pachat,Vrajesh Udani,Neeta A. Naik,Mahesh Kamate,A. Radha Rama Devi,P A Mohammed Kunju,Mohandas Nair,Anaita Udwadia Hegde,M. Pradeep Kumar,Soumya Sundaram,Preetha Tilak,Ratna Dua Puri,Krati Shah,Jayesh Sheth,Qurratulain Hasan,Frenny Sheth,Pooja Agrawal,Shanmukh Katragadda,Vamsi Veeramachaneni,Vijay Chandru,Vijay Chandru,Ramesh Hariharan,Ramesh Hariharan,Ashraf U Mannan +43 more
TL;DR: It is shown that NGS (next-generation sequencing)-based testing is comprehensive and can detect all types of variants including structural variants, which are likely to cause loss of function in patients with neurological disorders.