Author Search Results

1

Classical cleidocranial dysplasia in an adult, due to a novel frameshift pathogenic variant in RUNX2 by Hebbar, Malavika, Girisha, Katta M, Shukla, Anju

Published 2016

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2

Report of the Third Family with Multiple Mitochondrial Dysfunctions Syndrome 5 Caused by the Founder Variant p.(Glu87Lys) in ISCA1 by Shukla, Anju, Kaur, Parneet, Girisha, Katta M.

Published 2018

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Introducing in AJMG Part A: Case Reports in Diverse Populations by Girisha, Katta M., Wonkam, Ambroise, Muenke, Maximilian

Published 2018

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4

Hunter syndrome with late age of presentation: clinical description of a case and review of the literature by Gupta, Ashish, Uttarilli, Anusha, Dalal, Ashwin, Girisha, Katta M

Published 2015

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5

Novel ALOX12B Mutation Identified in Parents following Single Nucleotide Polymorphism Microarray Testing of Banked DNA from a Fatal Case of Congenital Ichthyosis by Salian, Smrithi, Gupta, Ashish, Shukla, Anju, Girisha, Katta M

Published 2016

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Umbilical cyst due to patent urachus in a fetus with complete urorectal septum malformation sequence by Kodandapani, Sreelakshmi, Shetty, Jyothi, Kumar, Pratap, Girisha, Katta M.

Published 2012

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7

Severe Form of Brachydactyly Type A1 in a Child with a c.298G > A Mutation in IHH Gene by Salian, Smrithi, Shukla, Anju, Nishimura, Gen, Girisha, Katta M.

Published 2017

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8

Focal Dermal Hypoplasia with a De novo Mutation p.E300* of PORCN Gene in a Male Infant by Rao, Swathi Sunil, Shenoy, Rathika D, Salian, Smrithi, Girisha, Katta M

Published 2016

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9

A biallelic 36-bp insertion in PIBF1 is associated with Joubert syndrome by Hebbar, Malavika, Kanthi, Anil, Shukla, Anju, Bielas, Stephanie, Girisha, Katta M

Published 2018

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10

Locus and Allelic Heterogeneity in Five Families with Hereditary Spastic Paraplegia by Hebbar, Malavika, Shukla, Anju, Nampoothiri, Sheela, Bielas, Stephanie, Girisha, Katta M

Published 2018

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11

Homozygous c.359del variant in MGME1 is associated with early onset cerebellar ataxia by Hebbar, Malavika, Girisha, Katta M., Srivastava, Anshika, Bielas, Stephanie, Shukla, Anju

Published 2017

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12

A novel biallelic variant c.2219T > A p.(Leu740*) in ADGRG6 as a cause of lethal congenital contracture syndrome 9 by Shravya, Mangalore S., Mathew, Mary, Vasudeva, Akhila, Girisha, Katta M., Nayak, Shalini S.

Published 2023

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13

Occurrence of Synpolydactyly and Omphalocele in a Fetus with a HOXD13 Mutation by Radhakrishnan, Periyasamy, Nayak, Shalini S., Pai, Muralidhar V., Shukla, Anju, Girisha, Katta M.

Published 2017

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14

A Neurodegenerative Mitochondrial Disease Phenotype Due to Biallelic Loss-of-function Variants in PNPLA8 Encoding Calcium-independent Phospholipase A2γ by Shukla, Anju, Saneto, Russell P, Hebbar, Malavika, Mirzaa, Ghayda, Girisha, Katta M

Published 2018

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15

Bi-allelic c.181_183delTGT in BTB domain of KLHL7 is associated with overlapping phenotypes of Crisponi/CISS1-like and Bohring-Opitz like syndrome by Kanthi, Anil, Hebbar, Malavika, Bielas, Stephanie L, Girisha, Katta M, Shukla, Anju

Published 2018

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16

India Allele Finder: a web-based annotation tool for identifying common alleles in next-generation sequencing data of Indian origin by Zhang, Jimmy F., James, Francis, Shukla, Anju, Girisha, Katta M., Paciorkowski, Alex R.

Published 2017

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17

Clinically diverse and perinatally lethal syndromes with urorectal septum malformation sequence by Nayak, Shalini S., Harkness, Robert, Shukla, Anju, Banka, Siddharth, Newman, William G., Girisha, Katta M.

Published 2023

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18

Two sisters with RSPRY1-related spondyloepimetaphyseal dysplasia by Singh, Swati, Shah, Hitesh, Dalal, Ashwin, Shukla, Anju, Bhavani, Gandham SriLakshmi, Girisha, Katta M.

Published 2024

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19

Hyperphosphatasia with Mental Retardation Syndrome Due to a Novel Mutation in PGAP3 by Nampoothiri, Sheela, Hebbar, Malavika, Roy, Arun Grace, Kochumon, Sheena P., Bielas, Stephanie, Shukla, Anju, Girisha, Katta M.

Published 2017

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20

Clinical Variability in Familial X-Linked Ohdo Syndrome–Maat-Kievit-Brunner Type with MED12 Mutation by Patil, Siddaramappa J., Somashekar, Puneeth H., Shukla, Anju, Siddaiah, Satish, Bhat, Venkatraman, Girisha, Katta M., Rao, Pooja N.

Published 2017

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Search Results - Girisha, Katta M.

Classical cleidocranial dysplasia in an adult, due to a novel frameshift pathogenic variant in RUNX2 by Hebbar, Malavika, Girisha, Katta M, Shukla, Anju

Report of the Third Family with Multiple Mitochondrial Dysfunctions Syndrome 5 Caused by the Founder Variant p.(Glu87Lys) in ISCA1 by Shukla, Anju, Kaur, Parneet, Girisha, Katta M.

Introducing in AJMG Part A: Case Reports in Diverse Populations by Girisha, Katta M., Wonkam, Ambroise, Muenke, Maximilian

Hunter syndrome with late age of presentation: clinical description of a case and review of the literature by Gupta, Ashish, Uttarilli, Anusha, Dalal, Ashwin, Girisha, Katta M

Novel ALOX12B Mutation Identified in Parents following Single Nucleotide Polymorphism Microarray Testing of Banked DNA from a Fatal Case of Congenital Ichthyosis by Salian, Smrithi, Gupta, Ashish, Shukla, Anju, Girisha, Katta M

Umbilical cyst due to patent urachus in a fetus with complete urorectal septum malformation sequence by Kodandapani, Sreelakshmi, Shetty, Jyothi, Kumar, Pratap, Girisha, Katta M.

Severe Form of Brachydactyly Type A1 in a Child with a c.298G > A Mutation in IHH Gene by Salian, Smrithi, Shukla, Anju, Nishimura, Gen, Girisha, Katta M.

Focal Dermal Hypoplasia with a De novo Mutation p.E300* of PORCN Gene in a Male Infant by Rao, Swathi Sunil, Shenoy, Rathika D, Salian, Smrithi, Girisha, Katta M

A biallelic 36-bp insertion in PIBF1 is associated with Joubert syndrome by Hebbar, Malavika, Kanthi, Anil, Shukla, Anju, Bielas, Stephanie, Girisha, Katta M

Locus and Allelic Heterogeneity in Five Families with Hereditary Spastic Paraplegia by Hebbar, Malavika, Shukla, Anju, Nampoothiri, Sheela, Bielas, Stephanie, Girisha, Katta M

Homozygous c.359del variant in MGME1 is associated with early onset cerebellar ataxia by Hebbar, Malavika, Girisha, Katta M., Srivastava, Anshika, Bielas, Stephanie, Shukla, Anju

A novel biallelic variant c.2219T > A p.(Leu740*) in ADGRG6 as a cause of lethal congenital contracture syndrome 9 by Shravya, Mangalore S., Mathew, Mary, Vasudeva, Akhila, Girisha, Katta M., Nayak, Shalini S.

Occurrence of Synpolydactyly and Omphalocele in a Fetus with a HOXD13 Mutation by Radhakrishnan, Periyasamy, Nayak, Shalini S., Pai, Muralidhar V., Shukla, Anju, Girisha, Katta M.

A Neurodegenerative Mitochondrial Disease Phenotype Due to Biallelic Loss-of-function Variants in PNPLA8 Encoding Calcium-independent Phospholipase A2γ by Shukla, Anju, Saneto, Russell P, Hebbar, Malavika, Mirzaa, Ghayda, Girisha, Katta M

Bi-allelic c.181_183delTGT in BTB domain of KLHL7 is associated with overlapping phenotypes of Crisponi/CISS1-like and Bohring-Opitz like syndrome by Kanthi, Anil, Hebbar, Malavika, Bielas, Stephanie L, Girisha, Katta M, Shukla, Anju

India Allele Finder: a web-based annotation tool for identifying common alleles in next-generation sequencing data of Indian origin by Zhang, Jimmy F., James, Francis, Shukla, Anju, Girisha, Katta M., Paciorkowski, Alex R.

Clinically diverse and perinatally lethal syndromes with urorectal septum malformation sequence by Nayak, Shalini S., Harkness, Robert, Shukla, Anju, Banka, Siddharth, Newman, William G., Girisha, Katta M.

Two sisters with RSPRY1-related spondyloepimetaphyseal dysplasia by Singh, Swati, Shah, Hitesh, Dalal, Ashwin, Shukla, Anju, Bhavani, Gandham SriLakshmi, Girisha, Katta M.

Hyperphosphatasia with Mental Retardation Syndrome Due to a Novel Mutation in PGAP3 by Nampoothiri, Sheela, Hebbar, Malavika, Roy, Arun Grace, Kochumon, Sheena P., Bielas, Stephanie, Shukla, Anju, Girisha, Katta M.

Clinical Variability in Familial X-Linked Ohdo Syndrome–Maat-Kievit-Brunner Type with MED12 Mutation by Patil, Siddaramappa J., Somashekar, Puneeth H., Shukla, Anju, Siddaiah, Satish, Bhat, Venkatraman, Girisha, Katta M., Rao, Pooja N.

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