Aimee Allworth

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: “Returning integrated genomic risk and clinical recommendations: The eMERGE study”.

Returning integrated genomic risk and clinical recommendations: The eMERGE study

Genetics in Medicine(2023)10.1016/j.gim.2023.100006

N/A

2.6DataRank · unranked

121 citations

Aimee Allworth, Harris T. Bland, Pedro J. Caraballo, Rex L. Chisholm, Ellen Wright Clayton +95 more

Dominant‐negative variant in SLC1A4 causes an autosomal dominant epilepsy syndrome

Annals of Clinical and Translational Neurology(2023)10.1002/acn3.51786

N/A

0DataRank · unranked

4 citations

Ghayda Mirzaa, Elizabeth Blue, Giuseppe Albano, Danny E. Miller, Aimee Allworth +28 more

Synchronized long-read genome, methylome, epigenome, and transcriptome for resolving a Mendelian condition

bioRxiv (Cold Spring Harbor Laboratory)(2023)10.1101/2023.09.26.559521

N/A

0DataRank · unranked

7 citations

Jonas Korlach, Kiara C. Eldred, Elliott Swanson, Jason G. Underwood, Yong-Han Hank Cheng +31 more

Large-scale mutational analysis identifies UNC93B1 variants that drive TLR-mediated autoimmunity in mice and humans

The Journal of Experimental Medicine(2024)10.1084/jem.20232005

N/A

0DataRank · unranked

37 citations

Julian A. Yano, John Huizar, Leianna C. Slayden, Madeleine A. Weiss, Elizabeth A Turcotte +93 more

De novo variants in DENND5B cause a neurodevelopmental disorder

The American Journal of Human Genetics(2024)10.1016/j.ajhg.2024.02.001

N/A

0DataRank · unranked

9 citations

Valeria Tomati, Matteo P. Ferla, Mariateresa Lena, Julie S. Cohen, Ali Fatemi +94 more

Exome and genome sequencing in a heterogeneous population of patients with rare disease: Identifying predictors of a diagnosis

Genetics in Medicine(2024)10.1016/j.gim.2024.101115

N/A

0DataRank · unranked

6 citations

Lauren C. Briere, Chloe Reuter, Perman Gochyyev, Maria T. Acosta, David R. Adams +94 more

Dual diagnosis of UQCRFS1-related mitochondrial complex III deficiency and recessive GJA8-related cataracts

Rare(2024)10.1016/j.rare.2024.100040

N/A

0DataRank · unranked

3 citations

Samuel J. Huang, Alyna Khan, Katie Golden‐Grant, Brenna Boyd, Elisabeth A. Rosenthal +37 more

Loss-of-function in RBBP5 results in a syndromic neurodevelopmental disorder associated with microcephaly

Genetics in Medicine(2024)10.1016/j.gim.2024.101218

N/A

0DataRank · unranked

4 citations

Kristy Jay, Alden Huang, Jijun Wan, Sharayu Jangam, Odelia Chorin +95 more

Expanding the genetic and phenotypic landscape of replication factor C complex-related disorders: RFC4 deficiency is linked to a multisystemic disorder

The American Journal of Human Genetics(2024)10.1016/j.ajhg.2024.07.008

N/A

0DataRank · unranked

3 citations

Eunjin Ryu, Benjamin Steger, Abhijit Dixit, Yoshihiko Saito, Juyeong Yoo +36 more

Heterozygous variants in PLCG1 affect hearing, vision, cardiac, and immune function

eLife(2024)10.7554/elife.95887

N/A

0DataRank · unranked

2 citations

Yiming Zheng, Mingxi Deng, Shenzhao Lu, Xueyang Pan, Xi Luo +25 more

Heterozygous variants in PLCG1 affect hearing, vision, cardiac, and immune function

medRxiv(2024)10.1101/2024.01.08.23300523

N/A

0DataRank · unranked

0 citations

Yiming Zheng, Mingxi Deng, Shenzhao Lu, Xueyang Pan, Xi Luo +25 more

The Undiagnosed Diseases Network: Characteristics of solvable applicants and diagnostic suggestions for nonaccepted ones

Genetics in Medicine(2024)10.1016/j.gim.2024.101203

N/A

0DataRank · unranked

0 citations

Laura Findley, Weihong Ni, Janet S. Sinsheimer, Francesca Cole, Cecilia Esteves +94 more

Synchronized long-read genome, methylome, epigenome and transcriptome profiling resolve a Mendelian condition

Nature Genetics(2025)10.1038/s41588-024-02067-0

N/A

0DataRank · unranked

34 citations

Jonas Korlach, Kiara C. Eldred, Elliott Swanson, Jason G. Underwood, Stephanie C. Bohaczuk +33 more

Novel Variants in VARS2 Demonstrate the Phenotypic Variability of a Rare Mitochondriopathy That Responds to Valine Supplementation

Journal of Inherited Metabolic Disease(2025)10.1002/jimd.70053

N/A

0DataRank · unranked

5 citations

Stephen Viviano, Fazliny Abd Rahman, Samuel D. Strohbehn, Aimee Allworth, Norma Pérez +9 more

ELFN1 deficiency: The mechanistic basis and phenotypic spectrum of a neurodevelopmental disorder with epilepsy

Genetics in Medicine(2025)10.1016/j.gim.2025.101506

N/A

0DataRank · unranked

3 citations

Chu-Ting Chang, A. Declève, Gloria Brunori, W.H. Ludlam, Alden Huang +93 more

De novo variants in RYBP are associated with a severe neurodevelopmental disorder and congenital anomalies

Genetics in Medicine(2025)10.1016/j.gim.2025.101369

N/A

0DataRank · unranked

4 citations

Lindsay C. Burrage, Sharayu Jangam, Jill A. Rosenfeld, Sandra von Hardenberg, Anke K. Bergmann +92 more

Enriched phenotypes in rare variant carriers suggest pathogenic mechanisms in rare disease patients

BioData Mining(2025)10.1186/s13040-024-00418-5

N/A

0DataRank · unranked

1 citations

Undiagnosed Diseases Network, Maria T. Acosta, David R. Adams, Ben Afzali, Ali Al-Beshri +95 more