Katta M Girisha

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Katta M



Publications in SciGraph latest 50 shown

  • 2019-03 Genomic and phenotypic delineation of congenital microcephaly in GENETICS IN MEDICINE
  • 2019-01 Locus and allelic heterogeneity in five families with hereditary spastic paraplegia in JOURNAL OF HUMAN GENETICS
  • 2018-12 FLNA mutations in surviving males presenting with connective tissue findings: two new case reports and review of the literature in BMC MEDICAL GENETICS
  • 2018-11 Genetic diversity of NDUFV1-dependent mitochondrial complex I deficiency in EUROPEAN JOURNAL OF HUMAN GENETICS
  • 2018-09 Author Correction: RSPO2 inhibition of RNF43 and ZNRF3 governs limb development independently of LGR4/5/6 in NATURE
  • 2018-08 A biallelic 36-bp insertion in PIBF1 is associated with Joubert syndrome in JOURNAL OF HUMAN GENETICS
  • 2018-05 RSPO2 inhibition of RNF43 and ZNRF3 governs limb development independently of LGR4/5/6 in NATURE
  • 2018-05 Clinical and genetic spectrum of AMPD2-related pontocerebellar hypoplasia type 9 in EUROPEAN JOURNAL OF HUMAN GENETICS
  • 2018-01 Homozygosity for a nonsense variant in AIMP2 is associated with a progressive neurodevelopmental disorder with microcephaly, seizures, and spastic quadriparesis in JOURNAL OF HUMAN GENETICS
  • 2017-12 India Allele Finder: a web-based annotation tool for identifying common alleles in next-generation sequencing data of Indian origin in BMC RESEARCH NOTES
  • 2017-12 Novel KIAA0753 mutations extend the phenotype of skeletal ciliopathies in SCIENTIFIC REPORTS
  • 2017-09 The promise of discovering population-specific disease-associated genes in South Asia in NATURE GENETICS
  • 2017-09 A reply to a commentary on homozygous p.(Glu87Lys) variant in ISCA1 is associated with a multiple mitochondrial dysfunctions syndrome in JOURNAL OF HUMAN GENETICS
  • 2017-07 Homozygous p.(Glu87Lys) variant in ISCA1 is associated with a multiple mitochondrial dysfunctions syndrome in JOURNAL OF HUMAN GENETICS
  • 2017-05 A novel sequence variant in SFRP4 causing Pyle disease in JOURNAL OF HUMAN GENETICS
  • 2017-04 Complexities in Genotype-Phenotype Correlation and Genetic Counseling in Collagen VI - Related Myopathy in THE INDIAN JOURNAL OF PEDIATRICS
  • 2017-03 Identification of a novel LRRK1 mutation in a family with osteosclerotic metaphyseal dysplasia in JOURNAL OF HUMAN GENETICS
  • 2016-12 Phenotype and genotype in patients with Larsen syndrome: clinical homogeneity and allelic heterogeneity in seven patients in BMC MEDICAL GENETICS
  • 2016-08 Metatropic dysplasia with a novel mutation in TRPV4 in INDIAN PEDIATRICS
  • 2016-08 A novel multiple joint dislocation syndrome associated with a homozygous nonsense variant in the EXOC6B gene in EUROPEAN JOURNAL OF HUMAN GENETICS
  • 2016-02 Editorial in INDIAN PEDIATRICS
  • 2015-11 Novel Mutation in an Indian Patient with Transcobalamin II Deficiency in THE INDIAN JOURNAL OF PEDIATRICS
  • 2015-05 Symmetrical Terminal Transverse Limb Deficiencies in THE INDIAN JOURNAL OF PEDIATRICS
  • 2015-02 The SMAD-binding domain of SKI: a hotspot for de novo mutations causing Shprintzen–Goldberg syndrome in EUROPEAN JOURNAL OF HUMAN GENETICS
  • 2015-02 White matter changes in GM1 gangliosidosis in INDIAN PEDIATRICS
  • 2015-01 Research letters in INDIAN PEDIATRICS
  • 2014-03 CFTR mutations in India: Need to do more! GENETICIST’S PERSPECTIVE in INDIAN PEDIATRICS
  • 2014-03 A Novel Frameshift Mutation in TWIST2 Gene Causing Setleis Syndrome in THE INDIAN JOURNAL OF PEDIATRICS
  • 2012-08 Loss of a condyle of the femur or tibia following septic arthritis in infancy: problems of management and testing of a hypothesis of pathogenesis in JOURNAL OF CHILDREN'S ORTHOPAEDICS
  • 2012-03 Profile of patients with Von Gierke disease from India in INDIAN PEDIATRICS
  • 2010-06 Compound heterozygosity for HbD Punjab and polyadenylation signal mutation causes clinically asymptomatic mild hypochromia and microcytosis in ANNALS OF HEMATOLOGY
  • 2010-05 Opsismodysplasia in THE INDIAN JOURNAL OF PEDIATRICS
  • 2010-03 Rhizomelic chondrodysplasia punctata type 1: report of mutations in 3 children from India in JOURNAL OF APPLIED GENETICS
  • 2007-12 Synpolydactyly and HOXD13 polyalanine repeat: addition of 2 alanine residues is without clinical consequences in BMC MEDICAL GENETICS
  • 2006-06 Immunological response to two hepatitis B vaccines administered in two different schedules in THE INDIAN JOURNAL OF PEDIATRICS
  • 2005-06 Anotia and facial palsy: Unusual features of cardiofacial syndrome in THE INDIAN JOURNAL OF PEDIATRICS
  • 2003-07 Congenital and inherited ophthalmologic abnormalities in THE INDIAN JOURNAL OF PEDIATRICS
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