Katta M. Girisha

Pilot corpus only

This score is computed over theSindex pilot corpus and does not cover the full scientific literature. Scores are relative to papers we have ingested — papers, authors, and institutions outside the pilot are not represented. Methodology.

Top 1%percentile

5.4Author DataRank

Indexed papers

2in pilot corpus

datarank_citation_only_1hop_v6· scope data_onlyMethodology

Why this DataRank?

An author's DataRank is the sum of the DataRanks of all 2 indexed papers attributed to them. A prolific author with many moderate-impact papers can outrank one with a single high-impact paper.

Author scores recompute whenever paper DataRanks are refreshed, so this number lags the underlying paper scores by at most one batch run.

Read the full methodology →

The highest-impact dataset this researcher has shared, ranked by DataRank — the single contribution doing the most to lift their data-sharing standing.

Nosology of genetic skeletal disorders: 2023 revision

American Journal of Medical Genetics Part A(2023)10.1002/ajmg.a.63132

Top 5%

4.6DataRank

Top 5%379 citations

Carlos R. Ferreira, Geert Mortier, Houda Ali, Débora Romeo Bertola, Alistair Calder +16 more

Papers

Driven by 31 papers — median percentile 86. Top paper: “Nosology of genetic skeletal disorders: 2023 revision”.

Nosology of genetic skeletal disorders: 2023 revision

American Journal of Medical Genetics Part A(2023)10.1002/ajmg.a.63132

Top 5%

4.6DataRank

Top 5%379 citations

Carlos R. Ferreira, Geert Mortier, Houda Ali, Débora Romeo Bertola, Alistair Calder +16 more

A data set of variants derived from 1455 clinical and research exomes is efficient in variant prioritization for early‐onset monogenic disorders in Indians

Human Mutation(2021)10.1002/humu.24172

Top 24%

0.853DataRank

Top 24%51 citations

Anju Shukla, Neerja Gupta, Gandham SriLakshmi Bhavani, Samarth Kulshrestha, Aneek Das Bhowmik +11 more

TREX tetramer disruption alters RNA processing necessary for corticogenesis in THOC6 Intellectual Disability Syndrome

Nature Communications(2024)10.1038/s41467-024-45948-y

N/A

0.412DataRank · unranked

8 citations

Geneva LaForce, Anshika Srivastava, Delia Perillo, Shaokun Li, Katherine Johnson +25 more

Response to Hall et al.

The American Journal of Human Genetics(2020)10.1016/j.ajhg.2020.11.006

N/A

0DataRank · unranked

0 citations

Jared C. Talbot, Emily M. Teets, Samantha Beck Previs, Brit L. Martin, Kathryn M. Shively +26 more

Biallelic mutations in the death domain of PIDD1 impair caspase-2 activation and are associated with intellectual disability

Translational Psychiatry(2021)10.1038/s41398-020-01158-w

N/A

0DataRank · unranked

149 citations

Nasim Vasli, Stephen F. Pastore, Kimia Kharizi, Ricardo Harripaul, Zohreh Fattahi +17 more

A dyadic approach to the delineation of diagnostic entities in clinical genomics

The American Journal of Human Genetics(2021)10.1016/j.ajhg.2020.11.013

N/A

0DataRank · unranked

116 citations

Margaret P Adam, Fowzan S. Alkuraya, Anne Amemiya, Michael J. Bamshad, Anita E. Beck +42 more

Multilocus disease-causing genomic variations for Mendelian disorders: role of systematic phenotyping and implications on genetic counselling

European Journal of Human Genetics(2021)10.1038/s41431-021-00933-7

N/A

0DataRank · unranked

43 citations

Divya Udyawar, Parneet Kaur, Suvasini Sharma, Narayanaswamy Suresh, Sheela Nampoothiri +12 more

Heterozygous ANKRD17 loss-of-function variants cause a syndrome with intellectual disability, speech delay, and dysmorphism

The American Journal of Human Genetics(2021)10.1016/j.ajhg.2021.04.007

N/A

0DataRank · unranked

40 citations

Meriel McEntagart, Jill Clayton‐Smith, Konrad Platzer, Anju Shukla, Katta M. Girisha +77 more

Bi‐allelic missense variant, p. Ser35Leu in EXOSC1 is associated with pontocerebellar hypoplasia

Clinical Genetics(2021)10.1111/cge.13928

N/A

0DataRank · unranked

33 citations

Parneet Kaur, Joshi Stephen, Vishal Singh Guleria, Rajagopal Kadavigere, Katta M. Girisha +4 more

Clinical and genetic spectrum of 104 Indian families with central nervous system white matter abnormalities

Clinical Genetics(2021)10.1111/cge.14037

N/A

0DataRank · unranked

18 citations

Michelle C. do Rosario, Malavika Hebbar, Suvasini Sharma, Neethukrishna Kausthubham, Karthik Vijay Nair +27 more

Biallelic start loss variant, c. 1A > G in GCSH is associated with variant nonketotic hyperglycinemia

Clinical Genetics(2021)10.1111/cge.13970

N/A

0DataRank · unranked

9 citations

Puneeth H. Somashekar, Malavika Hebbar, Rajagopal Kadavigere, B. K. Praveen, Katta M. Girisha +2 more

Wiedemann–Rautenstrauch syndrome in an Indian patient with biallelic pathogenic variants in POLR3A

American Journal of Medical Genetics Part A(2021)10.1002/ajmg.a.62115

N/A

0DataRank · unranked

7 citations

Katta M. Girisha, Purvi Majethia

Hedgehog acyl‐transferase‐related multiple congenital anomalies: Report of an additional family and delineation of the syndrome

American Journal of Medical Genetics Part A(2021)10.1002/ajmg.a.62186

N/A

0DataRank · unranked

4 citations

Periyasamy Radhakrishnan, Naveenchandra M. Shetty, Anju Shukla, Katta M. Girisha, Shruti Pande

SOX11 variants cause a neurodevelopmental disorder with infrequent ocular malformations and hypogonadotropic hypogonadism and with distinct DNA methylation profile

Genetics in Medicine(2022)10.1016/j.gim.2022.02.013

N/A

0DataRank · unranked

36 citations

Aidin Foroutan, Jennifer Kerkhof, Haley McConkey, Michael A. Levy, Sadegheh Haghshenas +95 more

Perspectives on the future of dysmorphology

American Journal of Medical Genetics Part A(2022)10.1002/ajmg.a.63060

N/A

0DataRank · unranked

26 citations

Margaret P Adam, Chin‐To Fong, Katta M. Girisha, Judith G. Hall, Anna Hurst +6 more

Variants in the zinc transporterTMEM163cause a hypomyelinating leukodystrophy

Brain(2022)10.1093/brain/awac295

N/A

0DataRank · unranked

19 citations

Guillermo Rodríguez Bey, Bruce Nmezi, Fang Liu, Talia DeFrancesco Oranburg, Ana S.A. Cohen +13 more

Bi-allelic variants in CHKA cause a neurodevelopmental disorder with epilepsy and microcephaly

Brain(2022)10.1093/brain/awac074

N/A

0DataRank · unranked

15 citations

J. Pedro Fernández-Murray, Mahtab Tavasoli, Heinrich Sticht, Gisela Stoltenburg‐Didinger, Leila Motlagh Scholle +24 more

Homozygous loss-of-function variants in FILIP1 cause autosomal recessive arthrogryposis multiplex congenita

Research Square(2022)10.21203/rs.3.rs-2121654/v1

N/A

0DataRank · unranked

0 citations

Elisabeth Schuler, Almundher Al‐Maawali, Ankur Chaurasia, Steffen Syrbe, Adila Al‐Kindi +10 more

De novo variants underlying monogenic syndromes with intellectual disability in a neurodevelopmental cohort from India

European Journal of Human Genetics(2023)10.1038/s41431-023-01513-7

N/A

0DataRank · unranked

19 citations

Purvi Majethia, Karthik Vijay Nair, Lakshmi Priya Rao, Selinda Mascarenhas, Namanpreet Kaur +26 more

Homozygous loss-of-function variants in FILIP1 cause autosomal recessive arthrogryposis multiplex congenita with microcephaly

Human Genetics(2023)10.1007/s00439-023-02528-2

N/A

0DataRank · unranked

6 citations

Elisabeth Schuler, Almundher Al‐Maawali, Ankur Chaurasia, Steffen Syrbe, Adila Al‐Kindi +10 more

Further validation of craniosynostosis as a part of phenotypic spectrum of BCL11B‐related BAFopathy

American Journal of Medical Genetics Part A(2023)10.1002/ajmg.a.63330

N/A

0DataRank · unranked

5 citations

Selinda Mascarenhas, A. Venkatraman, Vivekananda Bhat, Dhanya Lakshmi Narayanan, Shahyan Siddiqui +4 more

Extended analysis of exome sequencing data reveals a novel homozygous deletion of exons 3 and 4 in FUCA1 gene causing fucosidosis in an Indian family

Clinical Dysmorphology(2023)10.1097/mcd.0000000000000452

N/A

0DataRank · unranked

4 citations

Greeshma Purushothama, Dhanya Lakshmi Narayanan, Shahyan Siddiqui, Katta M. Girisha, Anju Shukla +1 more

Mechanisms of mRNA processing defects in inherited THOC6 intellectual disability syndrome

Research Square(2023)10.21203/rs.3.rs-2126145/v1

N/A

0DataRank · unranked

0 citations

Geneva LaForce, Anshika Srivast, Delia Perillo, Katherine Johnson, Brandon A. Berger +24 more

Genetic and phenotypic landscape of pediatric‐onset epilepsy in 142 Indian families: Counseling and therapeutic implications

Clinical Genetics(2024)10.1111/cge.14495

N/A

0DataRank · unranked

7 citations

Namanpreet Kaur, Selinda Mascarenhas, Lakshmi Priya Rao, Shruti Pande, Dhanya Lakshmi Narayanan +27 more

Neuroimaging to Genotype: Delineating the Spectrum of Disorders With Deficient Myelination in the Indian Population

American Journal of Medical Genetics Part A(2024)10.1002/ajmg.a.63914

N/A

0DataRank · unranked

2 citations

Michelle C. do Rosario, Purvi Majethia, Selinda Mascarenhas, Lakshmi Priya Rao, Karthik Vijay Nair +17 more

Genome sequencing enables diagnosis and treatment of SLC5A6 neuropathy

European Journal of Human Genetics(2024)10.1038/s41431-024-01641-8

N/A

0DataRank · unranked

6 citations

Subrata Sabui, Hamid M. Said, Aram Niaz, Katta M. Girisha, Periyasamy Radhakrishnan +10 more

Basic helix-loop-helix transcription factor BHLHE22 monoallelic and biallelic variants cause a neurodevelopmental disorder with agenesis of the corpus callosum, intellectual disability, tone and movement abnormalities

medRxiv(2024)10.1101/2024.10.11.24312856

N/A

0DataRank · unranked

2 citations

Emanuela Argilli, Elizabeth George, Tuğba Kalaycı, Zehra Oya Uyguner, Birsen Karaman +21 more

Recurrent 1q21.1 deletion syndrome: report on variable expression, nonpenetrance and review of literature

Clinical Dysmorphology(2020)10.1097/mcd.0000000000000327

N/A

0DataRank · unranked

17 citations

Eram Fatima Amiri, Vishal Singh Guleria, Stephanie Bielas, Katta M. Girisha, Anju Shukla +1 more

Biallelic Variant, c.644‐13_644‐9del in UNC50 Is Associated With Congenital Myasthenia Syndrome

American Journal of Medical Genetics Part A(2025)10.1002/ajmg.a.64086

N/A

0DataRank · unranked

2 citations

Greeshma Purushothama, Periyasamy Radhakrishnan, Malavika Hebbar, Shyamala Guruvare, Mary Mathew +6 more

Mutations in MYLPF Cause a Novel Segmental Amyoplasia that Manifests as Distal Arthrogryposis

The American Journal of Human Genetics(2020)10.1016/j.ajhg.2020.06.014

N/A

0DataRank · unranked

34 citations

Jared C. Talbot, Emily M. Teets, Samantha Beck Previs, Brit L. Martin, Kathryn M. Shively +26 more

Mutations in MYLPF cause a novel segmental amyoplasia that manifests as distal arthrogryposis

bioRxiv (Cold Spring Harbor Laboratory)(2020)10.1101/2020.05.06.071555

N/A

0DataRank · unranked

1 citations

Jared C. Talbot, Emily M. Teets, Samantha Beck Previs, Brit L. Martin, Kathryn M. Shively +26 more

Katta M. Girisha

Indexed papers

Top data-sharing exemplar

Papers