Anna Alkelai

Also affiliated with Regeneron (United States)

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 13 papers. Top paper: “Phenotypic expansion of CACNA1C-associated disorders to include isolated neurological manifestations”.

Phenotypic expansion of CACNA1C-associated disorders to include isolated neurological manifestations

Genetics in Medicine(2021)10.1038/s41436-021-01232-8

N/A

1.3DataRank · unranked

49 citations

Rebecca C. Spillmann, Harley T. Kurata, Shawn M. Lamothe, Jasmine Maghera, Rami Abou Jamra +92 more

Investigation into the genetics of fetal congenital lymphatic anomalies

Prenatal Diagnosis(2023)10.1002/pd.6345

N/A

1.2DataRank · unranked

29 citations

Anna Alkelai, Jessica L. Giordano, Madhulatha Pantrangi, Meng‐Chang Hsiao, Chia‐Ling Nhan‐Chang +6 more

Commonalities across computational workflows for uncovering explanatory variants in undiagnosed cases

Genetics in Medicine(2021)10.1038/s41436-020-01084-8

N/A

0.533DataRank · unranked

34 citations

Dustin Baldridge, Matt Velinder, Joel B. Krier, Kimberly LeBlanc, Cecilia Esteves +90 more

The contribution of de novo coding mutations to meningomyelocele

Nature(2025)10.1038/s41586-025-08676-x

N/A

0.396DataRank · unranked

13 citations

Ashna Nisal, Isaac Tang, Chanjae Lee, Ishani Jhamb, Cassidy Wallace +74 more

Hemizygous variants in protein phosphatase 1 regulatory subunit 3F (PPP1R3F) are associated with a neurodevelopmental disorder characterized by developmental delay, intellectual disability and autistic features

Human Molecular Genetics(2023)10.1093/hmg/ddad124

N/A

0.312DataRank · unranked

7 citations

Baozhong Xin, Iris Nira Smith, Valerie Sency, Julia Szekely, Anna Alkelai +49 more

A concurrent dual analysis of genomic data augments diagnoses: Experiences of 2 clinical sites in the Undiagnosed Diseases Network

Genetics in Medicine(2022)10.1016/j.gim.2022.12.001

N/A

0.170DataRank · unranked

1 citations

Queenie K.‐G. Tan, Chloe Reuter, Kelly Schoch, Jennefer N. Kohler, Devon Bonner +94 more

Identification and functional validation of rare coding variants in genes linked to monogenic obesity

Obesity(2024)10.1002/oby.24101

N/A

0.165DataRank · unranked

2 citations

Michael Traurig, Yunhua L. Muller, Samantha E. Day, Paolo Piaggi, Kim Wiedrich +8 more

A founder variant in TBCB is associated with global developmental delay, autism spectrum, and spastic paraparesis

Genetics in Medicine(2025)10.1016/j.gim.2025.101569

N/A

0DataRank · unranked

0 citations

Chen Itzkovich, Alina Kurolap, Mordechai Shohat, Alexandra Dürr, Jean‐Madeleine de Sainte Agathe +15 more

Detection of a mosaic CDKL5 deletion and inversion by optical genome mapping ends an exhaustive diagnostic odyssey

Molecular Genetics & Genomic Medicine(2021)10.1002/mgg3.1665

N/A

0DataRank · unranked

18 citations

Hayk Barseghyan, Surajit Bhattacharya, Yulong Fu, Nicole L. Hoppman, Cherisse A. Marcou +8 more

Whole exome sequencing in Alopecia Areata identifies rare variants in KRT82

Nature Communications(2022)10.1038/s41467-022-28343-3

N/A

0DataRank · unranked

34 citations

Sahar Gelfman, A.R. Abdelaziz, Eunice Lee, Isha Monga, Anna Alkelai +4 more

Alzheimer’s Disease Polygenic Risk Score Is Not Associated With Cognitive Decline Among Older Adults With Type 2 Diabetes

Frontiers in Aging Neuroscience(2022)10.3389/fnagi.2022.853695

N/A

0DataRank · unranked

7 citations

Eric Yu, Ramit Ravona‐Springer, Abigail Livny, Sapir Golan, Yuxia Ouyang +10 more

Exonic Variation and Its Clinical Impact in 7221 Old Order Amish

American Journal of Medical Genetics Part A(2025)10.1002/ajmg.a.64212

N/A

0DataRank · unranked

0 citations

Ebuka Onyenobi, Joshua P. Lewis, Brady Gaynor, James A. Perry, Kristin A. Maloney +17 more

Variants in SCAF4 Cause a Neurodevelopmental Disorder and Are Associated with Impaired mRNA Processing

The American Journal of Human Genetics(2020)10.1016/j.ajhg.2020.06.019

N/A

0DataRank · unranked

25 citations

Philipp Kirchner, Antje Wiesener, Irma van de Beek, Quinten Waisfisz, Mieke M. van Haelst +43 more