Anju Shukla

Also affiliated with Kasturba Medical College, Manipal

Biochemistry, Genetics and Molecular Biology

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 4%percentile

0.853Author DataRank

Indexed papers

1in 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 1 indexed paper 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.

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

Papers

Driven by 35 papers — median percentile 76. Top paper: “A data set of variants derived from 1455 clinical and research exomes is efficient in variant prioritization for early‐onset monogenic disorders in Indians”.

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

Variants in the zinc transporterTMEM163cause a hypomyelinating leukodystrophy

Brain(2022)10.1093/brain/awac295

N/A

0.449DataRank · unranked

19 citations

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

Further evidence of affected females with a heterozygous variant in FGF13 causing X-linked developmental and epileptic encephalopathy 90

European Journal of Medical Genetics(2021)10.1016/j.ejmg.2021.104403

N/A

0.416DataRank · unranked

15 citations

Purvi Majethia, Shrikiran Aroor, Shahyan Siddiqui, Ashwin Dalal, Anju Shukla +1 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

Further evidence of biallelic variants in KCNK18 as a cause of intellectual disability and epilepsy with febrile seizure plus

Clinical Dysmorphology(2023)10.1097/mcd.0000000000000463

N/A

0.208DataRank · unranked

3 citations

Rhea Harish, Dhanya Lakshmi Narayanan, B.L. Yatheesha, Suvasini Sharma, Anju Shukla +1 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

0.165DataRank · unranked

2 citations

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

NAD(P)HX dehydratase (NAXD) deficiency due to a novel biallelic missense variant and review of literature

European Journal of Medical Genetics(2021)10.1016/j.ejmg.2021.104266

N/A

0DataRank · unranked

17 citations

Shivani Mishra, Lakshmi Priya Rao, Raghavendra Rao, Anju Shukla, Purvi Majethia

Growth and neurodevelopmental disorder with arthrogryposis, microcephaly and structural brain anomalies caused by Bi-allelic partial deletion of SMPD4 gene

Journal of Human Genetics(2021)10.1038/s10038-021-00981-3

N/A

0DataRank · unranked

10 citations

Puneeth H. Somashekar, Parneet Kaur, Samarth Kulshrestha, Vedam L. Ramprasad, Sakthivel Murugan +3 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

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

Report of rapid diagnosis and precise management of MMADHC-related intracellular cobalamin defect

BMJ Case Reports(2021)10.1136/bcr-2020-239755

N/A

0DataRank · unranked

1 citations

Dhanya Lakshmi Narayanan, Anju Shukla, Vivekananda Bhat

Neurodevelopmental and Epilepsy Phenotypes in Individuals With Missense Variants in the Voltage-Sensing and Pore Domains of KCNH5

Neurology(2022)10.1212/wnl.0000000000201492

N/A

0DataRank · unranked

24 citations

Lynette G. Sadleir, Matthew Zemel, Guillem de Valles‐Ibáñez, Michael S. Hildebrand, Allyn McConkie‐Rosell +50 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

Second report of SHMT2 related neurodevelopmental disorder with cardiomyopathy, spasticity, and brain abnormalities

European Journal of Medical Genetics(2022)10.1016/j.ejmg.2022.104481

N/A

0DataRank · unranked

9 citations

Vivekananda Bhat, B.L. Yatheesha, Shahyan Siddiqui, Anju Shukla, Purvi Majethia

Missense variants in the voltage sensing and pore domain of KCNH5 cause neurodevelopmental phenotypes including epilepsy

medRxiv(2022)10.1101/2022.04.26.22274147

N/A

0DataRank · unranked

0 citations

Lynette G. Sadleir, Matthew Zemel, Guillem de Valles‐Ibáñez, Michael S. Hildebrand, Allyn McConkie‐Rosell +49 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

Intragenic homozygous duplication in HEPACAM is associated with megalencephalic leukoencephalopathy with subcortical cysts type 2A

Neurogenetics(2024)10.1007/s10048-024-00743-1

N/A

0DataRank · unranked

1 citations

Khyati Arora, Periyasamy Radhakrishnan, Dhanya Lakshmi Narayanan, Anju Shukla, Namanpreet Kaur

Biallelic EPB41L3 variants underlie a developmental disorder with seizures and myelination defects

Brain(2024)10.1093/brain/awae299

N/A

0DataRank · unranked

3 citations

Guillermo Rodríguez Bey, Purvi Majethia, Parneet Kaur, Siddaramappa J. Patil, Minal Kekatpure +18 more

Biallelic Variants in LRRC45 Impair Ciliogenesis and Cause a Severe Neurological Disorder

Clinical Genetics(2024)10.1111/cge.14663

N/A

0DataRank · unranked

2 citations

Neha Quadri, Florian Erger, Nico Fuhrmann, Otilia‐Maria Geist, Christian Netzer +10 more

Biallelic variants in MRPL49 cause variable clinical presentations, including sensorineural hearing loss, leukodystrophy, and ovarian insufficiency

medRxiv(2024)10.1101/2024.10.10.24315152

N/A

0DataRank · unranked

2 citations

Leigh Demain, Alfredo Cabrera‐Orefice, Isabelle Schrauwen, Hanan E. Shamseldin, Alessandro Rea +26 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

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

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

Anju Shukla

Indexed papers

Top data-sharing exemplar

Papers