Klaus Schmitz‐Abe

Also affiliated with Harvard University, University of Miami, Jackson Health System, University of Miami Hospital

Immunology and MicrobiologyBiochemistry, Genetics and Molecular BiologyMedicine

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 21 papers. Top paper: “De novo EIF2AK1 and EIF2AK2 Variants Are Associated with Developmental Delay, Leukoencephalopathy, and Neurologic Decompensation”.

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

0.639DataRank · unranked

70 citations

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

Notch3 destabilizes regulatory T cells to drive autoimmune neuroinflammation in multiple sclerosis

Immunity(2025)10.1016/j.immuni.2025.09.007

N/A

0.330DataRank · unranked

8 citations

Paola Contini, Klaus Schmitz‐Abe, Olga Lanzetta, Feven Getachew, Corinne Bachelin +18 more

Integrated multi‐omics approach reveals the role of striated muscle preferentially expressed protein kinase in skeletal muscle including its relationship with myospryn complex

Journal of Cachexia Sarcopenia and Muscle(2024)10.1002/jcsm.13470

N/A

0.241DataRank · unranked

4 citations

Jasmine Lin, Shiyu Luo, Klaus Schmitz‐Abe, Rohan Agrawal, Melissa Meng +6 more

Unique variants in CLCN3, encoding an endosomal anion/proton exchanger, underlie a spectrum of neurodevelopmental disorders

The American Journal of Human Genetics(2021)10.1016/j.ajhg.2021.06.003

N/A

0DataRank · unranked

46 citations

Maya M. Polovitskaya, Héctor Gaitán‐Peñas, Sara Bertelli, Grace E. VanNoy, P. Ellen Grant +34 more

A data-driven architecture using natural language processing to improve phenotyping efficiency and accelerate genetic diagnoses of rare disorders

Human Genetics and Genomics Advances(2021)10.1016/j.xhgg.2021.100035

N/A

0DataRank · unranked

10 citations

Casie A. Genetti, Asli Aykanat, Catherine A. Brownstein, Klaus Schmitz‐Abe, Morgan Danowski +17 more

Congenital X‐linked neutropenia with myelodysplasia and somatic tetraploidy due to a germline mutation in SEPT6

American Journal of Hematology(2021)10.1002/ajh.26382

N/A

0DataRank · unranked

8 citations

Katelyn E. Gagne, Ellen M. Beauchamp, Jonathan Fogel, Aleksej Perlov, Mireia Sola +17 more

A homozygous stop-gain variant in ARHGAP42 is associated with childhood interstitial lung disease, systemic hypertension, and immunological findings

PLoS Genetics(2021)10.1371/journal.pgen.1009639

N/A

0DataRank · unranked

7 citations

Michal Dibus, Alicia Casey, Christina Yee, Sara O. Vargas, Shiyu Luo +15 more

The Notch1/CD22 signaling axis disrupts Treg function in SARS-CoV-2–associated multisystem inflammatory syndrome in children

Journal of Clinical Investigation(2022)10.1172/jci163235

N/A

0DataRank · unranked

30 citations

Qian Chen, Janet Chou, Amélie M. Julé, Rafik Boudra, Paola Contini +45 more

Notch1-CD22-Dependent Immune Dysregulation in the SARS-CoV2-Associated Multisystem Inflammatory Syndrome in Children

(2022)10.21203/rs.3.rs-1054453/v1

N/A

0DataRank · unranked

3 citations

Mehdi Benamar, Qian Chen, Janet Chou, Amélie M. Julé, Rafik Boudra +44 more

Severe allergic dysregulation due to a gain of function mutation in the transcription factor STAT6

Journal of Allergy and Clinical Immunology(2023)10.1016/j.jaci.2023.01.023

N/A

0DataRank · unranked

64 citations

Mehdi Benamar, Qian Chen, Mehmet Cihangir Çatak, Mónica Martínez‐Blanco, Muyun Wang +16 more

High number of candidate gene variants are identified as disease‐causing in a period of 4 years

American Journal of Medical Genetics Part A(2023)10.1002/ajmg.a.63509

N/A

0DataRank · unranked

5 citations

Qifei Li, Jill A. Madden, Casie A. Genetti, Catherine A. Brownstein, Klaus Schmitz‐Abe +3 more

Integrated multi-omics approach reveals the role of SPEG in skeletal muscle biology including its relationship with myospryn complex

bioRxiv (Cold Spring Harbor Laboratory)(2023)10.1101/2023.04.24.538136

N/A

0DataRank · unranked

0 citations

Jasmine Lin, Shiyu Luo, Klaus Schmitz‐Abe, Rohan Agrawal, Melissa Meng +6 more

The solute carrier family 26 member 9 modifies rapidly progressing cystic fibrosis associated with homozygous F508del CFTR mutation

Clinica Chimica Acta(2024)10.1016/j.cca.2024.119765

N/A

0DataRank · unranked

3 citations

S.D. Rollins, Klaus Schmitz‐Abe, Amy Tam, Qifei Li, Jiahai Shi +4 more

The Solute Carrier Family 26 Member 9 Is a Modifier of the Rapidly Progressing Cystic Fibrosis Associated with F508del CFTR Mutations

medRxiv(2024)10.1101/2024.01.04.23300546

N/A

0DataRank · unranked

0 citations

S.D. Rollins, Klaus Schmitz‐Abe, Amy Tam, Qifei Li, Jiahai Shi +4 more

Immunological biomarkers associated with survival in a cohort of Argentinian patients with common variable immunodeficiency

Journal of Allergy and Clinical Immunology Global(2024)10.1016/j.jacig.2024.100311

N/A

0DataRank · unranked

0 citations

Gabriela Luque, Eduardo Cuestas, Ana Lisa Basquiera, Brenda Ricchi, Klaus Schmitz‐Abe +6 more

DOCK8 deficiency due to a deep intronic variant in two kindreds with hyper-IgE syndrome

Clinical Immunology(2024)10.1016/j.clim.2024.110384

N/A

0DataRank · unranked

0 citations

Muyun Wang, Sevgi Keleş, Hatice Güngör, Murat Cansever, Salim Can +6 more

RELMβ sets the threshold for microbiome-dependent oral tolerance

Nature(2025)10.1038/s41586-024-08440-7

N/A

0DataRank · unranked

36 citations

Gavin A. Kuziel, Mónica Martínez‐Blanco, Bat‐Erdene Jugder, Mehdi Benamar, Ziwei Wang +20 more

Dominant-negative mutations in human IL6ST underlie hyper-IgE syndrome

The Journal of Experimental Medicine(2020)10.1084/jem.20191804

N/A

0DataRank · unranked

113 citations

Simon J. Tavernier, Yin‐Huai Chen, S. Cindy, Marie Materna, Arian Laurence +55 more

Unique signatures of highly constrained genes across publicly available genomic databases

Genetics in Medicine(2025)10.1016/j.gim.2025.101413

N/A

0DataRank · unranked

0 citations

Qifei Li, S. Greene, Michela Borrelli, Shiyu Luo, Madesh C. Ramesh +2 more

Homozygous deletions implicate non-coding epigenetic marks in Autism spectrum disorder

Scientific Reports(2020)10.1038/s41598-020-70656-0

N/A

0DataRank · unranked

21 citations

Guzman Sánchez‐Schmitz, Ryan N. Doan, R. Sean Hill, Maria H. Chahrour, Bhaven K. Mehta +9 more

Evolution and long‐term outcomes of combined immunodeficiency due to CARMIL2 deficiency

Allergy(2021)10.1111/all.15010

N/A

0DataRank · unranked

49 citations

Dilek Başer, Bengü Akçam, Jeffrey J. Danielson, Sevgi Bilgiç Eltan, Yeşim Haliloğlu +31 more