Anju Shukla

Also affiliated with Chandra Shekhar Azad University of Agriculture and Technology, Barkatullah University, Kasturba Medical College, Manipal

Biochemistry, Genetics and Molecular BiologyMedicine

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 100%percentile

0Author DataRank

Indexed papers

0in pilot corpus

datarank_citation_only_1hop_v6· scope data_onlyMethodology

Papers

Driven by 7 papers. Top paper: “Homozygous loss-of-function variants in FILIP1 cause autosomal recessive arthrogryposis multiplex congenita”.

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

Bi-allelic variants in DAP3 result in reduced assembly of the mitoribosomal small subunit with altered apoptosis and a Perrault-syndrome-spectrum phenotype

The American Journal of Human Genetics(2024)10.1016/j.ajhg.2024.11.007

N/A

0DataRank · unranked

7 citations

Robert Kopajtich, Leigh Demain, Alessandro Rea, Huw B. Thomas, Manuel Schiff +34 more

From spastic paraplegia to infantile neurodegenerative disorder: Expanding the phenotypic spectrum associated with biallelic SPAST variants

European Journal of Neurology(2024)10.1111/ene.70025

N/A

0DataRank · unranked

6 citations

Chloé Angelini, Claire Bar, Wahiba Amer El Khedoud, Christine Barnérias, Razika Boulariah‐Hadjou +15 more

Report of a novel recurrent homozygous variant c.620A>T in three unrelated families with thiamine metabolism dysfunction syndrome 5 and review of literature

Clinical Dysmorphology(2024)10.1097/mcd.0000000000000490

N/A

0DataRank · unranked

1 citations

Mayuri Yeole, Lakshmi Priya Rao, Michelle C. do Rosario, Purvi Majethia, Karthik Vijay Nair +7 more

c.202_204del in NUP214 causes late onset form of febrile encephalopathy

American Journal of Medical Genetics Part A(2024)10.1002/ajmg.a.63529

N/A

0DataRank · unranked

1 citations

Dhanya Lakshmi Narayanan, Selinda Mascarenhas, Michelle C. do Rosario, Karthik Vijay Nair, Radhakrishnan Periyasamy +2 more

Biallelic variants in DAP3 result in reduced assembly of the mitoribosomal small subunit with altered intrinsic and extrinsic apoptosis and a Perrault syndrome-spectrum phenotype

medRxiv(2024)10.1101/2024.08.19.24312079

N/A

0DataRank · unranked

2 citations

Robert Kopajtich, Leigh Demain, Alessandro Rea, Huw B. Thomas, Manuel Schiff +35 more

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

The American Journal of Human Genetics(2025)10.1016/j.ajhg.2025.02.005

N/A

0DataRank · unranked

7 citations

Leigh Demain, Alfredo Cabrera‐Orefice, Isabelle Schrauwen, Hanan E. Shamseldin, Alessandro Rea +41 more