Brent L. Fogel

Also affiliated with University of California System

NeuroscienceBiochemistry, 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 33 papers. Top paper: “Chimeric Peptide Species Contribute to Divergent Dipeptide Repeat Pathology in c9ALS/FTD and SCA36”.

Chimeric Peptide Species Contribute to Divergent Dipeptide Repeat Pathology in c9ALS/FTD and SCA36

Neuron(2020)10.1016/j.neuron.2020.04.011

N/A

0.655DataRank · unranked

78 citations

Tania F. Gendron, Nisha Raj, María García-Murias, Anwesha Banerjee, Ryan H. Purcell +30 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, Radiological and Pathological Features of a Large American Cohort of Spinocerebellar Ataxia (SCA27B)

Annals of Neurology(2024)10.1002/ana.27060

N/A

0.520DataRank · unranked

31 citations

Anirudh N. Eranki, Hannah A. Stevens, Sonya Watson, Darice Y. Wong, Veronica S. Avila +28 more

Toward a biomarker panel measured in CNS-originating extracellular vesicles for improved differential diagnosis of Parkinson’s disease and multiple system atrophy

Translational Neurodegeneration(2023)10.1186/s40035-023-00346-0

N/A

0.515DataRank · unranked

30 citations

Simon Hornung, Suman Dutta, Leony Fenwick, Otmane Lahgui, Kathryn Howe +15 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

Lack of Association Between GBA Mutations and Motor Complications in European and American Parkinson’s Disease Cohorts

Journal of Parkinson s Disease(2021)10.3233/jpd-212657

N/A

0.330DataRank · unranked

8 citations

Kimberly C. Paul, Ingvild Dalen, Kathie J. Ngo, Darice Wong, Angus D. Macleod +10 more

The Neurodevelopmental and Motor Phenotype of SCA21 (ATX-TMEM240)

Journal of Child Neurology(2020)10.1177/0883073820943488

N/A

0.312DataRank · unranked

7 citations

Brent L. Fogel, Shafali Jeste, Julián A. Martínez-Agosto, Jessica E. Rexach, Charlotte DiStefano +4 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

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

Toward a Biomarker Panel measured in CNS-originating Extracellular Vesicles for Improved Differential Diagnosis of Parkinson’s Disease and Multiple System Atrophy

Research Square(2022)10.21203/rs.3.rs-2375640/v1

N/A

0DataRank · unranked

1 citations

Simon Hornung, Suman Dutta, Leony Fenwick, Otmane Lahgui, Kathryn Howe +15 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

Late-onset hereditary ataxias with dementia

Current Opinion in Neurology(2023)10.1097/wco.0000000000001170

N/A

0DataRank · unranked

4 citations

Brent L. Fogel, Anthony J. Linares

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

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

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

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

Clinical Practice Guidelines for the Diagnosis, Management, and Surveillance of LMNB1 -Related Autosomal Dominant Leukodystrophy

Neurology Genetics(2025)10.1212/nxg.0000000000200287

N/A

0DataRank · unranked

0 citations

W. Oliver Tobin, Pietro Cortelli, Quasar Saleem Padiath, Karthik Muthusamy, Ujjal Didar Singh Sekhon +12 more

Novel NUDT2 variant causes intellectual disability and polyneuropathy

Annals of Clinical and Translational Neurology(2020)10.1002/acn3.51209

N/A

0DataRank · unranked

10 citations

Shaweta Khosa, Dmitriy Niyazov, Hane Lee, Richard Person, Michelle M. Morrow +14 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

Emotional detachment, gait ataxia, and cerebellar dysconnectivity associated with compound heterozygous mutations in the SPG7 gene

Neurocase(2020)10.1080/13554794.2020.1817493

N/A

0DataRank · unranked

4 citations

Yuchuan Qiao, Alexander Garbin, Beth E. Fisher, Brent L. Fogel, Kecia Watari Knoell +4 more

α-Synuclein in blood exosomes immunoprecipitated using neuronal and oligodendroglial markers distinguishes Parkinson’s disease from multiple system atrophy

Acta Neuropathologica(2021)10.1007/s00401-021-02324-0

N/A

0DataRank · unranked

162 citations

Simon Hornung, Adira Kruayatidee, Katherine N. Maina, Irish Del Rosario, Kimberly C. Paul +18 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

De novo pathogenic variant in SETX causes a rapidly progressive neurodegenerative disorder of early childhood-onset with severe axonal polyneuropathy

Acta Neuropathologica Communications(2021)10.1186/s40478-021-01277-5

N/A

0DataRank · unranked

15 citations

Kathie J. Ngo, Daniel Y. Conway, John Provias, Steven K. Baker, Lauren Brady +5 more

Acute pharmacogenetic dystonic reactions in a family with the CYP2D6 *41 allele: a case report

Journal of Medical Case Reports(2021)10.1186/s13256-021-03022-x

N/A

0DataRank · unranked

7 citations

Brent L. Fogel, Darice Y. Wong

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