Kelly Hassey

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 16 papers. Top paper: “An autosomal dominant neurological disorder caused by de novo variants in FAR1 resulting in uncontrolled synthesis of ether lipids”.

An autosomal dominant neurological disorder caused by de novo variants in FAR1 resulting in uncontrolled synthesis of ether lipids

Genetics in Medicine(2020)10.1038/s41436-020-01027-3

N/A

0DataRank · unranked

49 citations

Kirsty McWalter, Heleen te Brinke, Lodewijk IJlst, Petra M. Mooijer, Jos P.N. Ruiter +95 more

Clinical sites of the Undiagnosed Diseases Network: unique contributions to genomic medicine and science

Genetics in Medicine(2020)10.1038/s41436-020-00984-z

N/A

0DataRank · unranked

42 citations

Cecilia Esteves, Anna Bican, Rebecca C. Spillmann, Heidi Cope, Allyn McConkie‐Rosell +89 more

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

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

N/A

0DataRank · unranked

49 citations

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

SPTSSA variants alter sphingolipid synthesis and cause a complex hereditary spastic paraplegia

Brain(2023)10.1093/brain/awac460

N/A

0DataRank · unranked

34 citations

Hagar Mor Shaked, Kenneth Gable, Sita D. Gupta, Xueyang Pan, Niranjanakumari Somashekarappa +93 more

De novo missense variants in phosphatidylinositol kinase PIP5KIγ underlie a neurodevelopmental syndrome associated with altered phosphoinositide signaling

The American Journal of Human Genetics(2023)10.1016/j.ajhg.2023.06.012

N/A

0DataRank · unranked

8 citations

Rossella Venditti, Evangelos A. Theodorou, Lauren C. Briere, Marion Rosello, Alfonsina Tirozzi +94 more

Genomics Research with Undiagnosed Children: Ethical Challenges at the Boundaries of Research and Clinical Care

The Journal of Pediatrics(2023)10.1016/j.jpeds.2023.113537

N/A

0DataRank · unranked

7 citations

Jennifer L. Young, Charis Tang, Kevin Mintz, Sawyer Lucas-Griffin, AudreyStephannie Maghiro +95 more

De novo variants in MRTFB have gain-of-function activity in Drosophila and are associated with a novel neurodevelopmental phenotype with dysmorphic features

Genetics in Medicine(2023)10.1016/j.gim.2023.100833

N/A

0DataRank · unranked

6 citations

Jung-Wan Mok, Oguz Kanca, Sharayu Jangam, Cynthia J. Tifft, Ellen F. Macnamara +95 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

Loss of the endoplasmic reticulum protein Tmem208 affects cell polarity, development, and viability

Proceedings of the National Academy of Sciences(2024)10.1073/pnas.2322582121

N/A

0DataRank · unranked

6 citations

Oguz Kanca, Rishi V. Shridharan, Paul C. Marcogliese, Benjamin Steger, Marie Morimoto +92 more

Dominant missense variants in SREBF2 are associated with complex dermatological, neurological, and skeletal abnormalities

Genetics in Medicine(2024)10.1016/j.gim.2024.101174

N/A

0DataRank · unranked

4 citations

Kristhen N Atala, Yiming Zheng, Debdeep Dutta, Dorothy K. Grange, Wen‐Wen Lin +95 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

LUSTR: a new customizable tool for calling genome-wide germline and somatic short tandem repeat variants

BMC Genomics(2024)10.1186/s12864-023-09935-9

N/A

0DataRank · unranked

0 citations

Camilo Toro, David R. Adams, Undiagnosed Diseases Network, Maria T. Acosta, Margaret P Adam +95 more

Pitfalls of genetic testing in a patient with IKBKG deficiency

Annals of Allergy Asthma & Immunology(2024)10.1016/j.anai.2024.06.018

N/A

0DataRank · unranked

0 citations

Srushti Patel, Kelly Hassey, Tamar Weinberger, Kathleen E. Sullivan, Gonench Kilich

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

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

An Unusual Cause of Hexokinase 1 Deficiency—Case Report

eJHaem(2025)10.1002/jha2.70123

N/A

0DataRank · unranked

0 citations

Kelly Maurer, Tanaya Jadhav, Tejas Jammihal, Zhe Zhang, Helge Hartung +11 more