Devon Bonner

Also affiliated with Stanford Medicine, Stanford University

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 55 papers. Top paper: “Beyond the exome: What’s next in diagnostic testing for Mendelian conditions”.

Beyond the exome: What’s next in diagnostic testing for Mendelian conditions

The American Journal of Human Genetics(2023)10.1016/j.ajhg.2023.06.009

N/A

2.2DataRank · unranked

123 citations

Chloe Reuter, Shruti Marwaha, Medhat Mahmoud, Michael Duyzend, Hayk Barseghyan +91 more

Integration of transcriptomics and long-read genomics prioritizes structural variants in rare disease

Genome Research(2025)10.1101/gr.279323.124

N/A

0.425DataRank · unranked

11 citations

Bohan Ni, Chloe Reuter, John E. Gorzynski, Sarah Fazal, Devon Bonner +13 more

Joint, multifaceted genomic analysis enables diagnosis of diverse, ultra-rare monogenic presentations

Nature Communications(2025)10.1038/s41467-025-61712-2

N/A

0.269DataRank · unranked

5 citations

Mikhail A. Moldovan, Rebecca Reimers, Daniel Traviglia, Xinyun Li, Danielle Barnum +95 more

Identification of rare and common regulatory variants in pluripotent cells using population-scale transcriptomics

Nature Genetics(2021)10.1038/s41588-021-00800-7

N/A

0DataRank · unranked

75 citations

Craig Smail, Michael J. Gloudemans, Laure Frésard, David Jakubosky, Matteo D’Antonio +22 more

Characterization of HNRNPA1 mutations defines diversity in pathogenic mechanisms and clinical presentation

JCI Insight(2021)10.1172/jci.insight.148363

N/A

0DataRank · unranked

74 citations

Hong Joo Kim, Lin Guo, Kevin J. O’Donovan, Inès Mademan, Tine Deconinck +21 more

Commonalities across computational workflows for uncovering explanatory variants in undiagnosed cases

Genetics in Medicine(2021)10.1038/s41436-020-01084-8

N/A

0DataRank · unranked

34 citations

Dustin Baldridge, Matt Velinder, Joel B. Krier, Kimberly LeBlanc, Cecilia Esteves +90 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

Biallelic UBE4A loss-of-function variants cause intellectual disability and global developmental delay

Genetics in Medicine(2021)10.1038/s41436-020-01047-z

N/A

0DataRank · unranked

6 citations

Devon Bonner, K. C. Kent Lloyd, Ala Moshiri, Brandon Willis, Louise Lanoue +23 more

DEFINING THE DIVERSITY OF HNRNPA1 MUTATIONS IN CLINICAL PHENOTYPE AND PATHOMECHANISM

medRxiv(2021)10.1101/2021.02.02.21250330

N/A

0DataRank · unranked

1 citations

Hyung Jun Kim, Lin Guo, Kevin J. O’Donovan, Inès Mademan, Tine Deconinck +21 more

Gain-of-function mutations in ALPK1 cause an NF-κB-mediated autoinflammatory disease: functional assessment, clinical phenotyping and disease course of patients with ROSAH syndrome

Annals of the Rheumatic Diseases(2022)10.1136/annrheumdis-2022-222629

N/A

0DataRank · unranked

70 citations

Shilpa Kodati, Laryssa A. Huryn, Hongying Wang, Blake M. Warner, Priyam Jani +95 more

DPP9 deficiency: An inflammasomopathy that can be rescued by lowering NLRP1/IL-1 signaling

Science Immunology(2022)10.1126/sciimmunol.abi4611

N/A

0DataRank · unranked

51 citations

Kim S. Robinson, Kenneth Lay, Jasmine C. Wong, Ricardo Moreno Traspas, Nasrin Nabavizadeh +24 more

TCEAL1 loss-of-function results in an X-linked dominant neurodevelopmental syndrome and drives the neurological disease trait in Xq22.2 deletions

The American Journal of Human Genetics(2022)10.1016/j.ajhg.2022.10.007

N/A

0DataRank · unranked

26 citations

Linda M. Reis, Davut Pehli̇van, Jonathan A. Bernstein, Michael Muriello, Erin Syverson +33 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

Endocannabinoid dysfunction in neurological disease: neuro-ocular DAGLA-related syndrome

Brain(2022)10.1093/brain/awac223

N/A

0DataRank · unranked

16 citations

Aloran Mazumder, Daisuke Ogasawara, Rami Abou Jamra, Geneviève Bernard, Enrico Bertini +94 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

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

0DataRank · unranked

1 citations

Queenie K.‐G. Tan, Chloe Reuter, Kelly Schoch, Jennefer N. Kohler, Devon Bonner +94 more

Bi-allelic variants in INTS11 are associated with a complex neurological disorder

The American Journal of Human Genetics(2023)10.1016/j.ajhg.2023.03.012

N/A

0DataRank · unranked

38 citations

Erica L. Macke, Marcello Niceta, Monika Weisz Hubshman, Oguz Kanca, Laura Schultz‐Rogers +95 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

0DataRank · unranked

18 citations

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

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

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

0DataRank · unranked

6 citations

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

P643: Transcriptome sequencing increases yield of Mendelian disease diagnosis

Genetics in Medicine Open(2023)10.1016/j.gimo.2023.100708

N/A

0DataRank · unranked

0 citations

Rachel Ungar, Pagé C. Goddard, Jennefer N. Kohler, Chloe Reuter, Shruti Marwaha +4 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

Considerations for reporting variants in novel candidate genes identified during clinical genomic testing

Genetics in Medicine(2024)10.1016/j.gim.2024.101199

N/A

0DataRank · unranked

14 citations

Seth Berger, Samantha Baxter, Erica D. Smith, Changrui Xiao, Daniel G. Calame +89 more

A syndromic neurodevelopmental disorder caused by rare variants in PPFIA3

The American Journal of Human Genetics(2024)10.1016/j.ajhg.2023.12.004

N/A

0DataRank · unranked

14 citations

Sydney L. Michener, Hongling Pan, Hiuling Chan, Jessica M. Pfliger, Jill A. Rosenfeld +95 more

Impact of genome build on RNA-seq interpretation and diagnostics

The American Journal of Human Genetics(2024)10.1016/j.ajhg.2024.05.005

N/A

0DataRank · unranked

13 citations

Pagé C. Goddard, Tanner Jensen, Fabien Degalez, Kevin S. Smith, Christopher Jin +5 more

Loss of function of FAM177A1, a Golgi complex localized protein, causes a novel neurodevelopmental disorder

Genetics in Medicine(2024)10.1016/j.gim.2024.101166

N/A

0DataRank · unranked

11 citations

Nicole Legro, Dustin Baldridge, Jimann Shin, Angela Bowman, Berrak Uğur +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

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

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

Recurring homozygous ACTN2 variant (p.Arg506Gly) causes a recessive myopathy

Annals of Clinical and Translational Neurology(2024)10.1002/acn3.51983

N/A

0DataRank · unranked

3 citations

Payam Mohassel, Melanie O’Leary, Devon Bonner, Taila Hartley, Nicole Acquaye +19 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

Integration of transcriptomics and long-read genomics prioritizes structural variants in rare disease

medRxiv(2024)10.1101/2024.03.22.24304565

N/A

0DataRank · unranked

5 citations

Bohan Ni, Chloe Reuter, John E. Gorzynski, Sarah Fazal, Devon Bonner +13 more

Impact of genome build on RNA-seq interpretation and diagnostics

medRxiv(2024)10.1101/2024.01.11.24301165

N/A

0DataRank · unranked

0 citations

Pagé C. Goddard, Tanner Jensen, Fabien Degalez, Kevin S. Smith, Christopher Jin +6 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

Telehealth Is Effective in the Evaluation of Individuals With Undiagnosed Rare Disorders: An Undiagnosed Diseases Network Study

American Journal of Medical Genetics Part A(2024)10.1002/ajmg.a.63956

N/A

0DataRank · unranked

0 citations

Allyn McConkie‐Rosell, Rachel Mahoney, Rebecca C. Spillmann, Kelly Schoch, Sirisak Chanprasert +21 more

Transcriptome-wide outlier approach identifies individuals with minor spliceopathies

The American Journal of Human Genetics(2025)10.1016/j.ajhg.2025.08.018

N/A

0DataRank · unranked

17 citations

Rodrigo Mendez, Rachel A. Ungar, Devon Bonner, Dena R. Matalon, Gabrielle Lemire +19 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

“Nobody listened to us for years”: Parents' experiences of provider communication in the diagnostic odyssey

Molecular Genetics and Metabolism(2025)10.1016/j.ymgme.2025.109283

N/A

0DataRank · unranked

4 citations

Sevil Mahfoozi, Devon Bonner, Daphne Oluwaseun Martschenko, Alisha Giri, Charis Tang +4 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 KDM2A cause a syndromic neurodevelopmental disorder

The American Journal of Human Genetics(2025)10.1016/j.ajhg.2025.12.004

N/A

0DataRank · unranked

1 citations

Stephan Drukewitz, Sukhleen Kour, Anuradha Venkatakrishnan Chimata, Deepa S. Rajan, Senta Schönnagel +53 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

Transcriptome-wide outlier approach identifies individuals with minor spliceopathies

medRxiv(2025)10.1101/2025.01.02.24318941

N/A

0DataRank · unranked

10 citations

Rodrigo Mendez, Rachel A. Ungar, Devon Bonner, Dena R. Matalon, Gabrielle Lemire +20 more

Biallelic variants in RNU2-2 cause the most prevalent known recessive neurodevelopmental disorder

medRxiv(2025)10.1101/2025.08.26.25334179

N/A

0DataRank · unranked

10 citations

Rodrigo Mendez, Jonathan Lees, Mafalda Barbosa, Alessandro Bruselles, Luigi Chiriatti +17 more

De novo variants in KDM2A cause a syndromic neurodevelopmental disorder

medRxiv(2025)10.1101/2025.03.31.25324695

N/A

0DataRank · unranked

2 citations

Stephan Drukewitz, Sukhleen Kour, Anuradha Venkatakrishnan Chimata, Deepa Rajan, Senta Schönnagel +54 more

De novo EIF2AK1 and EIF2AK2 Variants Are Associated with Developmental Delay, Leukoencephalopathy, and Neurologic Decompensation

The American Journal of Human Genetics(2020)10.1016/j.ajhg.2020.02.016

N/A

0DataRank · unranked

70 citations

Chloe Reuter, Maura Ruzhnikov, Anita E. Beck, Emily Farrow, Lisa Emrick +91 more

Domain specific phenotypic expansion associated with variants in MACF1

medRxiv(2025)10.1101/2025.06.26.25330137

N/A

0DataRank · unranked

1 citations

Angad Jolly, Jill A. Rosenfeld, Paulina Bahena-Carbajal, Jonathan A. Bernstein, Devon Bonner +27 more

Biallelic MADD variants cause a phenotypic spectrum ranging from developmental delay to a multisystem disorder

Brain(2020)10.1093/brain/awaa204

N/A

0DataRank · unranked

59 citations

Fanny Kortüm, Georg Christoph Korenke, Malik Alawi, René Santer, Mathias Woidy +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