Elizabeth L. Fieg

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 28 papers. Top paper: “SPTSSA variants alter sphingolipid synthesis and cause a complex hereditary spastic paraplegia”.

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

Brain(2023)10.1093/brain/awac460

N/A

0.992DataRank · unranked

35 citations

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

Bi-allelic ATG4D variants are associated with a neurodevelopmental disorder characterized by speech and motor impairment

npj Genomic Medicine(2023)10.1038/s41525-022-00343-8

N/A

0.605DataRank · unranked

18 citations

Vikas Bhambhani, Nour Gazzaz, Mariska Davids, Paalini Sathiyaseelan, Ellen F. Macnamara +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

0.564DataRank · unranked

42 citations

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

0.345DataRank · unranked

9 citations

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

Continuing a search for a diagnosis: the impact of adolescence and family dynamics

Orphanet Journal of Rare Diseases(2023)10.1186/s13023-022-02598-x

N/A

0.292DataRank · unranked

6 citations

Beverly M. Yashar, Undiagnosed Disease Network, Maria T. Acosta, Margaret P Adam, David R. Adams +95 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

0.292DataRank · unranked

6 citations

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

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

Macrocephaly and developmental delay caused by missense variants in RAB5C

Human Molecular Genetics(2023)10.1093/hmg/ddad130

N/A

0DataRank · unranked

4 citations

Weimin Yuan, Federico Tessadori, Wilmer R. Rodriguez-Polanco, Jeremy J. Grubbs, Bo Zhang +94 more

High-dimensional immunophenotyping reveals immune cell aberrations in patients with undiagnosed inflammatory and autoimmune diseases

Journal of Clinical Investigation(2023)10.1172/jci169619

N/A

0DataRank · unranked

3 citations

Takanori Sasaki, Joshua Keegan, Jennifer P. Nguyen, Alec Griffith, Alice Horisberger +21 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

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

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

Cohort Expansion and Genotype-Phenotype Analysis of RAB11A-Associated Neurodevelopmental Disorder

Pediatric Neurology(2024)10.1016/j.pediatrneurol.2024.07.010

N/A

0DataRank · unranked

2 citations

Heena Patel, Siddharth Srivastava, Lindsay C. Swanson, Boris Keren, Sandra Whalen +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

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

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

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

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

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

Variants in PRKAR1B cause a neurodevelopmental disorder with autism spectrum disorder, apraxia, and insensitivity to pain

Genetics in Medicine(2021)10.1038/s41436-021-01152-7

N/A

0DataRank · unranked

30 citations

Georgi Stoyanov, Florian Erger, Constantine A. Stratakis, Nikolaos Settas, Edra London +95 more

Heterozygous loss-of-function variants significantly expand the phenotypes associated with loss of GDF11

Genetics in Medicine(2021)10.1038/s41436-021-01216-8

N/A

0DataRank · unranked

26 citations

Jennifer B. Phillips, Elizabeth L. Fieg, Sameer S. Bajikar, Judy Peirce, Jeremy Wegner +94 more

The microRNA processorDROSHAis a candidate gene for a severe progressive neurological disorder

Human Molecular Genetics(2022)10.1093/hmg/ddac085

N/A

0DataRank · unranked

17 citations

Mümine Şentürk, Kelly Schoch, Amanda L. Minogue, Diego Lopergolo, Chiara Fallerini +95 more

A novel DPH5-related diphthamide-deficiency syndrome causing embryonic lethality or profound neurodevelopmental disorder

Genetics in Medicine(2022)10.1016/j.gim.2022.03.014

N/A

0DataRank · unranked

16 citations

Kristin Grimsrud, Louise Lanoue, Alena Egense, Brandon Willis, Johanna Hörberg +95 more

Biallelic variants in ribonuclease inhibitor (RNH1), an inflammasome modulator, are associated with a distinctive subtype of acute, necrotizing encephalopathy

Genetics in Medicine(2023)10.1016/j.gim.2023.100897

N/A

0DataRank · unranked

10 citations

Kelly Schoch, Rebecca Ganetzky, Peter G. Kranz, Neal Sondheimer, M. Louise Markert +92 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