Peter J. van der Spek

Also affiliated with Erasmus University Rotterdam

MedicineBiochemistry, 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 7 papers. Top paper: “Protein instability associated with AARS1 and MARS1 mutations causes trichothiodystrophy”.

Protein instability associated with AARS1 and MARS1 mutations causes trichothiodystrophy

Human Molecular Genetics(2021)10.1093/hmg/ddab123

N/A

0DataRank · unranked

49 citations

Arjan F. Theil, Anja Raams, Giuseppina Caligiuri, Sarah Giachetti, Silvia Bione +15 more

Identification of ultra-rare genetic variants in Pediatric Acute Onset Neuropsychiatric Syndrome (PANS) by exome and whole genome sequencing

medRxiv(2021)10.1101/2021.05.25.21257256

N/A

0DataRank · unranked

3 citations

Herbert M. Lachman, Olivia R. Manusama, Deyou Zheng, Alberto Spalice, Pietro Chiurazzi +6 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

Identification of ultra-rare genetic variants in pediatric acute onset neuropsychiatric syndrome (PANS) by exome and whole genome sequencing

Scientific Reports(2022)10.1038/s41598-022-15279-3

N/A

0DataRank · unranked

37 citations

Herbert M. Lachman, Olivia R. Manusama, Deyou Zheng, Alberto Spalice, Pietro Chiurazzi +7 more

Ultrarare Variants in DNA Damage Repair Genes in Pediatric Acute-Onset Neuropsychiatric Syndrome or Acute Behavioral Regression in Neurodevelopmental Disorders

Developmental Neuroscience(2024)10.1159/000541908

N/A

0DataRank · unranked

9 citations

Jennifer Frankovich, Robert Dubin, Erika Pedrosa, Refıa Nur Baykara, Noelle Schlenk +13 more

Ultrarare Variants in DNA Damage Repair Genes in Pediatric Acute-Onset Neuropsychiatric Syndrome or Acute Behavioral Regression in Neurodevelopmental Disorders

medRxiv(2024)10.1101/2024.02.20.24302984

N/A

0DataRank · unranked

3 citations

Jennifer Frankovich, Robert Dubin, Erika Pedrosa, Refıa Nur Baykara, Noelle Schlenk +11 more

Ultrarare Variants in DNA Damage Repair and Mitochondrial Genes in Pediatric Acute-Onset Neuropsychiatric Syndrome and Acute Behavioral Regression in Neurodevelopmental Disorders

medRxiv(2025)10.1101/2025.08.27.25333852

N/A

0DataRank · unranked

0 citations

Anjana Soorajkumar, Robert A Dubine, Erika Pedrosa, Allan Schornagel, John S. Lambert +8 more