Elizabeth Wohler

Also affiliated with Johns Hopkins Medicine, University of Baltimore

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 17 papers. Top paper: “PhenoDB, GeneMatcher and VariantMatcher, tools for analysis and sharing of sequence data”.

PhenoDB, GeneMatcher and VariantMatcher, tools for analysis and sharing of sequence data

Orphanet Journal of Rare Diseases(2021)10.1186/s13023-021-01916-z

N/A

0.524DataRank · unranked

32 citations

Renan Paulo Martin, Sean Griffith, Eliete da S. Rodrigues, Corina Antonescu, Jennifer E. Posey +8 more

Familial Aggregation in Idiopathic Subglottic Stenosis

Otolaryngology(2020)10.1177/0194599820935402

N/A

0.425DataRank · unranked

16 citations

Alexander Gelbard, Nara Sobriera, Elizabeth Wohler, Lynne Berry, Lena L. Hussain +2 more

De novo variants identified by trio whole exome sequencing of bladder exstrophy epispadias complex

American Journal of Medical Genetics Part A(2023)10.1002/ajmg.a.63501

N/A

0.208DataRank · unranked

3 citations

Elizabeth Wohler, Renan Paulo Martin, Heather N. Di Carlo, William B. Isaacs, Joan Ko +6 more

IFIH1 loss-of-function variants contribute to very early-onset inflammatory bowel disease

Human Genetics(2021)10.1007/s00439-021-02300-4

N/A

0DataRank · unranked

44 citations

Elizabeth Wohler, Antonio Marzollo, Davide Colavito, Jing You, Huie Jing +25 more

Pathogenic alleles in microtubule, secretory granule and extracellular matrix-related genes in familial keratoconus

Human Molecular Genetics(2021)10.1093/hmg/ddab075

N/A

0DataRank · unranked

30 citations

Nara Sobreira, Elizabeth Wohler, George Maiti, Nan Hu, Giuliana Silvestri +6 more

Disruption of the HIF-1 pathway in individuals with Ollier disease and Maffucci syndrome

PLoS Genetics(2022)10.1371/journal.pgen.1010504

N/A

0DataRank · unranked

14 citations

Renan Paulo Martin, Elizabeth Wohler, Elizabeth Partan, Elizabeth Walek, Shaima Salman +13 more

COL11A2 as a candidate gene for vertebral malformations and congenital scoliosis

Human Molecular Genetics(2023)10.1093/hmg/ddad117

N/A

0DataRank · unranked

22 citations

Elizabeth Wohler, Vida Erfani, Guozhuang Li, Alexya N. Aguilera, Alberto Santiago-Cornier +11 more

Mapping Genetic Susceptibility to Stenosis in the Proximal Airway

The Laryngoscope(2023)10.1002/lary.30718

N/A

0DataRank · unranked

12 citations

William S. Tierney, Ruth J. Davis, Elizabeth Wohler, Nara Sobreira, Alexander T. Hillel +5 more

Human Leukocyte Antigen Genotyping of Idiopathic Subglottic Stenosis

The Laryngoscope(2023)10.1002/lary.30580

N/A

0DataRank · unranked

10 citations

Alexander T. Hillel, Elizabeth Wohler, Nara Sobreira, Elizabeth J. Phillips, S. Mallal +2 more

Anxiety and dysautonomia symptoms in patients with a NaV1.7 mutation and the potential benefits of low-dose short-acting guanfacine

Clinical Autonomic Research(2023)10.1007/s10286-023-01004-1

N/A

0DataRank · unranked

8 citations

Maxime Lammens, Carley Blevins, Kristen Rodgers, Andrei Gurau, Suguru Yamauchi +13 more

A Brazilian case of IFAP syndrome with severe congenital ichthyosis and limb malformations caused by a rare variant in MBTPS2

Revista Paulista de Pediatria(2023)10.1590/1984-0462/2023/41/2022057

N/A

0DataRank · unranked

2 citations

Rodrigo Ambrósio Fock, Nadia Almeida, Thereza Cavalcanti, Darine Villela, Ana B. Alvarez Perez +5 more

Rare exonic CELSR3 variants identified in Bladder Exstrophy Epispadias Complex

Frontiers in Genetics(2024)10.3389/fgene.2024.1266210

N/A

0DataRank · unranked

3 citations

Nikolai A. Sopko, Nara Sobreira, Simeon A. Boyadjiev, Elizabeth Wohler, Christian Morrill +6 more

An optimized variant prioritization process for rare disease diagnostics: recommendations for Exomiser and Genomiser

Genome Medicine(2025)10.1186/s13073-025-01546-1

N/A

0DataRank · unranked

8 citations

Shruti Marwaha, Alistair Ward, Shilpa N. Kobren, Jennefer N. Carter, Undiagnosed Diseases Network +94 more

Molecular characterization of recessively inherited ataxic and neuropathic disorders in consanguineous Pakistani families

Scientific Reports(2026)10.1038/s41598-026-37808-0

N/A

0DataRank · unranked

0 citations

Muhammad Wajid, Amina Iftikhar Butt, Elizabeth Wohler, Go Hun Seo, Weizhen Ji +7 more

CACNA1D is a circadian gene and causes familial advanced sleep phase

Proceedings of the National Academy of Sciences(2025)10.1073/pnas.2424387122

N/A

0DataRank · unranked

1 citations

Fayal Abderemane-Ali, Liza Ashbrook, Mingyang Ma, Neha Nibber, Xianlin Zou +7 more

Deficiency of Adenosine Deaminase 2 (DADA2): Hidden Variants, Reduced Penetrance, and Unusual Inheritance

Journal of Clinical Immunology(2020)10.1007/s10875-020-00817-3

N/A

0DataRank · unranked

40 citations

Qing Zhou, Natalia Sampaio Moura, Amanda K. Ombrello, Drew G. Michael, Natalie Deuitch +15 more

Heterozygous loss of WBP11 function causes multiple congenital defects in humans and mice

Human Molecular Genetics(2020)10.1093/hmg/ddaa258

N/A

0DataRank · unranked

26 citations

Annabelle Enriquez, Duncan B. Sparrow, David T. Humphreys, Aideen McInerney‐Leo, Paul Leo +29 more