Angad Jolly

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 100%percentile

0Author DataRank

Indexed papers

0in pilot corpus

datarank_citation_only_1hop_v6· scope data_onlyMethodology

Papers

Driven by 15 papers. Top paper: “High prevalence of multilocus pathogenic variation in neurodevelopmental disorders in the Turkish population”.

High prevalence of multilocus pathogenic variation in neurodevelopmental disorders in the Turkish population

The American Journal of Human Genetics(2021)10.1016/j.ajhg.2021.08.009

N/A

0.697DataRank · unranked

103 citations

Sedat Işıkay, Alper Gezdirici, Elif Yılmaz Güleç, Jaya Punetha, Jawid M. Fatih +44 more

Novel pathogenic variants and quantitative phenotypic analyses of Robinow syndrome: WNT signaling perturbation and phenotypic variability

Human Genetics and Genomics Advances(2021)10.1016/j.xhgg.2021.100074

N/A

0.557DataRank · unranked

40 citations

Angad Jolly, Brian J. Shayota, Juliana F. Mazzeu, Haowei Du, Moez Dawood +45 more

Structural variant allelic heterogeneity in MECP2 duplication syndrome provides insight into clinical severity and variability of disease expression

Genome Medicine(2024)10.1186/s13073-024-01411-7

N/A

0.474DataRank · unranked

17 citations

Jesse D. Bengtsson, Sameer S. Bajikar, Christopher M. Grochowski, Ming Yin Lun, Mira Gandhi +38 more

GREGoR: accelerating genomics for rare diseases

Nature(2025)10.1038/s41586-025-09613-8

N/A

0.416DataRank · unranked

15 citations

Ben Heavner, Marsha M. Wheeler, Rachel A. Ungar, Jonathan LoTempio, Laurens Wiel +94 more

Improving Automated Deep Phenotyping Through Large Language Models Using Retrieval Augmented Generation

medRxiv(2024)10.1101/2024.12.01.24318253

N/A

0.312DataRank · unranked

7 citations

Lauren Westerfield, Priya Yelemali, Nikhita Gogate, E. Andres Rivera-Munoz, Haowei Du +5 more

An international virtual hackathon to build tools for the analysis of structural variants within species ranging from coronaviruses to vertebrates

F1000Research(2021)10.12688/f1000research.51477.1

N/A

0.208DataRank · unranked

3 citations

Medhat Mahmoud, Michael D. Jochum, Daniel Paiva Agustinho, Barry Zorman, Ahmad Al Khleifat +57 more

Domain specific phenotypic expansion associated with variants in MACF1

medRxiv(2025)10.1101/2025.06.26.25330137

N/A

0.104DataRank · unranked

1 citations

Angad Jolly, Jill A. Rosenfeld, Paulina Bahena-Carbajal, Jonathan A. Bernstein, Devon Bonner +27 more

Perturbations of genes essential for Müllerian duct and Wölffian duct development in Mayer-Rokitansky-Küster-Hauser syndrome

The American Journal of Human Genetics(2021)10.1016/j.ajhg.2020.12.014

N/A

0DataRank · unranked

90 citations

Sen Zhao, Angad Jolly, Lianlei Wang, Hongxin Pan, Jian Yuan +72 more

NODAL variants are associated with a continuum of laterality defects from simple D-transposition of the great arteries to heterotaxy

Genome Medicine(2024)10.1186/s13073-024-01312-9

N/A

0DataRank · unranked

15 citations

Jawid M. Fatih, Angad Jolly, Moez Dawood, Haowei Du, Christopher M. Grochowski +13 more

Bi-allelic variants in CELSR3 are implicated in central nervous system and urinary tract anomalies

npj Genomic Medicine(2024)10.1038/s41525-024-00398-9

N/A

0DataRank · unranked

3 citations

Jeshurun C. Kalanithy, Gabriel C. Dworschak, Nina Ishorst, Enrico Mingardo, Filipa M. Lopes +66 more

Improving automated deep phenotyping through large language models using retrieval-augmented generation

Genome Medicine(2025)10.1186/s13073-025-01521-w

N/A

0DataRank · unranked

15 citations

Lauren Westerfield, Priya Yelemali, Nikhita Gogate, E. Andres Rivera-Munoz, Haowei Du +5 more

Expanding the Clinical and Molecular Spectrum of TUBB2B Through Distinct Variants Identified Across Multiple Families

medRxiv(2025)10.64898/2025.12.28.25342917

N/A

0DataRank · unranked

1 citations

Angad Jolly, Ahmed Khairy Saad, Haowei Du, Lauren Westerfield, Chloe Munderloh +14 more

An international virtual hackathon to build tools for the analysis of structural variants within species ranging from coronaviruses to vertebrates

F1000Research(2021)10.12688/f1000research.51477.2

N/A

0DataRank · unranked

2 citations

Medhat Mahmoud, Michael D. Jochum, Daniel Paiva Agustinho, Barry Zorman, Ahmad Al Khleifat +57 more

Monoallelic variation in DHX9, the gene encoding the DExH-box helicase DHX9, underlies neurodevelopment disorders and Charcot-Marie-Tooth disease

The American Journal of Human Genetics(2023)10.1016/j.ajhg.2023.06.013

N/A

0DataRank · unranked

43 citations

Tianyu Guo, Chen Wang, Lillian Garrett, Angad Jolly, Moez Dawood +63 more

HMZDupFinder: a robust computational approach for detecting intragenic homozygous duplications from exome sequencing data

Nucleic Acids Research(2023)10.1093/nar/gkad1223

N/A

0DataRank · unranked

10 citations

Zain Dardas, Angad Jolly, Christopher M. Grochowski, Shalini N. Jhangiani, He Li +14 more