Edward M. Behrens

MedicineImmunology and MicrobiologyHealth Professions

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 61 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

Hematologic abnormalities in Aicardi Goutières Syndrome

Molecular Genetics and Metabolism(2022)10.1016/j.ymgme.2022.06.003

N/A

0.701DataRank · unranked

18 citations

Francesco Gavazzi, Russell D’Aiello, David Isaacs, Nowa Bronner, Zehra Serap Arıcı +14 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

Convalescent plasma for pediatric patients with SARS‐CoV‐2‐associated acute respiratory distress syndrome

Pediatric Blood & Cancer(2020)10.1002/pbc.28693

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0DataRank · unranked

39 citations

Elizabeth M. Anderson, Kevin O. McNerney, Eileen C. Goodwin, Julie C. Chase, Marcus J. Bolton +24 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

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0DataRank · unranked

49 citations

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

Colonoids From Patients With Pediatric Inflammatory Bowel Disease Exhibit Decreased Growth Associated With Inflammation Severity and Durable Upregulation of Antigen Presentation Genes

Inflammatory Bowel Diseases(2020)10.1093/ibd/izaa145

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0DataRank · unranked

21 citations

Noor Dawany, Máire Conrad, Tatiana A. Karakasheva, Kelly Maurer, Jane Wei +21 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

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0DataRank · unranked

42 citations

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

Deep Immune Profiling of MIS-C demonstrates marked but transient immune activation compared to adult and pediatric COVID-19

medRxiv(2020)10.1101/2020.09.25.20201863

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0DataRank · unranked

57 citations

Josephine R. Giles, Amy E. Baxter, Derek A. Oldridge, Caroline Diorio, Leticia Kuri-Cervantes +33 more

SARS-CoV-2 antibody responses in children with MIS-C and mild and severe COVID-19

medRxiv(2020)10.1101/2020.08.17.20176552

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0DataRank · unranked

37 citations

Caroline Diorio, Eileen C. Goodwin, Kevin O. McNerney, Madison E. Weirick, Sigrid Gouma +19 more

Convalescent plasma for pediatric patients with COVID-19 associated acute respiratory distress syndrome

(2020)10.22541/au.159493393.30759606

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0DataRank · unranked

3 citations

Elizabeth M. Anderson, Kevin O. McNerney, Eileen C. Goodwin, Julie Chase, Marcus J. Bolton +24 more

A Spontaneous RAG1 Nonsense Mutation Unveils Naturally Occurring N-Terminal Truncated RAG1 Isoforms

ImmunoHorizons(2020)10.4049/immunohorizons.2000001

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0DataRank · unranked

0 citations

Kyutae D. Lee, Noor Dawany, Tanner F. Robertson, Megan R. Fisher, Craig H. Bassing +2 more

Deep immune profiling of MIS-C demonstrates marked but transient immune activation compared with adult and pediatric COVID-19

Science Immunology(2021)10.1126/sciimmunol.abf7570

N/A

0DataRank · unranked

206 citations

Josephine R. Giles, Amy E. Baxter, Derek A. Oldridge, Caroline Diorio, Leticia Kuri-Cervantes +59 more

Thymic stromal lymphopoietin induces adipose loss through sebum hypersecretion

Science(2021)10.1126/science.abd2893

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0DataRank · unranked

82 citations

Junichiro Tohyama, Shogo Wada, Hu Meng, Jian Hu, Mariko Okumura +18 more

Proteomic profiling of MIS-C patients indicates heterogeneity relating to interferon gamma dysregulation and vascular endothelial dysfunction

Nature Communications(2021)10.1038/s41467-021-27544-6

N/A

0DataRank · unranked

80 citations

Rawan Shraim, Laura A. Vella, Josephine R. Giles, Amy E. Baxter, Derek A. Oldridge +15 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

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

Variants in STXBP3 are Associated with Very Early Onset Inflammatory Bowel Disease, Bilateral Sensorineural Hearing Loss and Immune Dysregulation

Journal of Crohn s and Colitis(2021)10.1093/ecco-jcc/jjab077

N/A

0DataRank · unranked

19 citations

Judith R. Kelsen, Waldo Spessott, Kameron Kooshesh, Maria L. Sanmillan, Noor Dawany +45 more

Ruxolitinib: Targeted Approach for Treatment of Autoinflammatory Very Early Onset Inflammatory Bowel Disease

Clinical Gastroenterology and Hepatology(2021)10.1016/j.cgh.2021.07.040

N/A

0DataRank · unranked

16 citations

Eliana Shaul, Máire Conrad, Trusha Patel, Astrela Moore, Noor Dawany +5 more

Cutaneous Findings in SARS-CoV-2-Associated Multisystem Inflammatory Disease in Children

Open Forum Infectious Diseases(2021)10.1093/ofid/ofab074

N/A

0DataRank · unranked

12 citations

Michelle Oboite, Kathleen Chiotos, Leslie Castelo‐Soccio, Audrey R. Odom John, Hamid Bassiri +10 more

The RAG1 Ubiquitin Ligase Domain Enhances the Assembly and Selection of T Cell Receptor Genes to Restrain the Autoimmune Hazard of Generating T Cell Receptor Diversity

bioRxiv (Cold Spring Harbor Laboratory)(2021)10.1101/2021.01.04.425211

N/A

0DataRank · unranked

0 citations

Charline Miot, Scott M. Gordon, Erica Culberson, Tamir Diamond, Portia A. Kreiger +6 more

Comprehensive Serum Proteome Profiling of Cytokine Release Syndrome and Immune Effector Cell–Associated Neurotoxicity Syndrome Patients with B-Cell ALL Receiving CAR T19

Clinical Cancer Research(2022)10.1158/1078-0432.ccr-22-0822

N/A

0DataRank · unranked

67 citations

Rawan Shraim, Regina M. Myers, Edward M. Behrens, Scott Canna, Hamid Bassiri +21 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

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0DataRank · unranked

16 citations

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

Familial hemophagocytic lymphohistiocytosis hepatitis is mediated by IFN-γ in a predominantly hepatic-intrinsic manner

PLoS ONE(2022)10.1371/journal.pone.0269553

N/A

0DataRank · unranked

9 citations

Thomas N. Burn, Mailyn A. Nishiguchi, Danielle Minichino, Julie Chase, Niansheng Chu +3 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

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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

The 2022 EULAR/ACR points to consider at the early stages of diagnosis and management of suspected haemophagocytic lymphohistiocytosis/macrophage activation syndrome (HLH/MAS)

Annals of the Rheumatic Diseases(2023)10.1136/ard-2023-224123

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0DataRank · unranked

142 citations

Ashley V. Geerlinks, Marta Wilejto, Kate F. Kernan, Melissa Hines, Micol Romano +45 more

The 2022 EULAR/ACR Points to Consider at the Early Stages of Diagnosis and Management of Suspected Haemophagocytic Lymphohistiocytosis/Macrophage Activation Syndrome (HLH/MAS)

Arthritis & Rheumatology(2023)10.1002/art.42636

N/A

0DataRank · unranked

48 citations

Ashley V. Geerlinks, Marta Wilejto, Kate F. Kernan, Melissa Hines, Micol Romano +26 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

Disease Course, Treatments, and Outcomes of Children With Systemic Juvenile Idiopathic Arthritis–Associated Lung Disease

Arthritis Care & Research(2023)10.1002/acr.25234

N/A

0DataRank · unranked

26 citations

Laura Sompii‐Montgomery, Jessica Patti, Alex Pickering, Shima Yasin, Thuy Do +32 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

The Liver in Hemophagocytic Lymphohistiocytosis

Journal of Pediatric Gastroenterology and Nutrition(2023)10.1097/mpg.0000000000003807

N/A

0DataRank · unranked

12 citations

Aaron D. Bennett, Edward M. Behrens, Tamir Diamond

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

c-Myc uses Cul4b to preserve genome integrity and promote antiviral CD8+ T cell immunity

Nature Communications(2023)10.1038/s41467-023-42765-7

N/A

0DataRank · unranked

9 citations

Dale Kim, Scott M. Gordon, Kathleen Klinzing, Siera Rosen, Ipsita Guha +10 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

CXCL9 inhibition does not ameliorate disease in murine models of both primary and secondary hemophagocytic lymphohistiocytosis

Scientific Reports(2023)10.1038/s41598-023-39601-9

N/A

0DataRank · unranked

7 citations

Michelle Lau, Jeremy Morrissette, Niansheng Chu, Edward M. Behrens, Tamir Diamond

Improving Outcomes of Pediatric Lupus Care Delivery With Provider Goal‐Setting Activities and Multidisciplinary Care Models

Arthritis Care & Research(2023)10.1002/acr.25134

N/A

0DataRank · unranked

7 citations

Shreya A. Varghese, Edward M. Behrens, Sabrina Gmuca, Jane Subak Kennedy, Emily J. Liebling +9 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

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

IFN-signaling gene expression as a diagnostic biomarker for monogenic interferonopathies

JCI Insight(2024)10.1172/jci.insight.178456

N/A

0DataRank · unranked

14 citations

Russell D’Aiello, Asako Takanohashi, Sarah Woidill, Francesco Gavazzi, Edward M. Behrens +6 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

Serum cytokine panels in pediatric clinical practice

Journal of Allergy and Clinical Immunology(2024)10.1016/j.jaci.2024.08.030

N/A

0DataRank · unranked

14 citations

J. H. Kim, Kevin O. McNerney, Caroline Diorio, Caelin Foley, Laura A.T. Kagami +16 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

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

Role of DOCK8 in cytokine storm syndromes

Journal of Allergy and Clinical Immunology(2024)10.1016/j.jaci.2024.10.004

N/A

0DataRank · unranked

6 citations

Remy R Cron, Remy R. Cron, Niansheng Chu, Jane Nguyen, Scott M. Gordon +9 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

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

Implementation study of the CARRA Uveitis Consensus Treatment Plans: feasibility for clinical practice and applicability for research

Pediatric Rheumatology(2024)10.1186/s12969-024-01022-x

N/A

0DataRank · unranked

0 citations

Fatima Barbar‐Smiley, Shoghik Akoghlanian, Joanne Drew, Sheila T. Angeles‐Han, Megan Quinlan‐Waters +92 more

Role of DOCK8 in Hyper-inflammatory Syndromes

medRxiv(2024)10.1101/2024.02.20.24303049

N/A

0DataRank · unranked

0 citations

Remy R. Cron, Niansheng Chu, Jane Nguyen, Scott M. Gordon, Esraa M. Eloseily +8 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

Expert-Based, Institutional Approaches for Reducing the Diagnostic Odyssey of Patients With Inborn Errors of Immunity

The Journal of Allergy and Clinical Immunology In Practice(2025)10.1016/j.jaip.2025.03.040

N/A

0DataRank · unranked

3 citations

Lisa Bastarache, John Anderson, Edward M. Behrens, Natalia S. Chaimowitz, Shanmuganathan Chandrakasan +5 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

Evidence of thrombotic microangiopathy in children with SARS-CoV-2 across the spectrum of clinical presentations

Blood Advances(2020)10.1182/bloodadvances.2020003471

N/A

0DataRank · unranked

146 citations

Kevin O. McNerney, Michele P. Lambert, Michele Paessler, Elizabeth M. Anderson, Sarah E. Henrickson +23 more

Complement factor I deficiency–associated neuroinflammatory disease among Old Order Amish

Journal of Allergy and Clinical Immunology(2025)10.1016/j.jaci.2025.06.021

N/A

0DataRank · unranked

1 citations

Laura M. Baas, Amy L. Stiegler, Titus J. Boggon, Portia A. Kreiger, Kathleen E. Sullivan +7 more

Cellular context of IL-33 expression dictates impact on anti-helminth immunity

Science Immunology(2020)10.1126/sciimmunol.abc6259

N/A

0DataRank · unranked

136 citations

Yukinori Tanaka, Karl Herbine, Christopher Pastore, Brenal Singh, Annabel A. Ferguson +14 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