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Cell Reports. Medicine|August 4, 2022
Immunogenicity and reactogenicity of heterologous immunization against SARS CoV-2 using Sputnik V, ChAdOx1-S, BBIBP-CorV, Ad5-nCoV, and mRNA-1273Carla A Pascuale, Augusto Varese, Diego S Ojeda, et al.
Cancers|August 7, 2021
TUMOSPEC: A Nation-Wide Study of Hereditary Breast and Ovarian Cancer Families with a Predicted Pathogenic Variant Identified through Multigene Panel TestingFabienne Lesueur, Séverine Eon-Marchais, Sarah Bonnet-Boissinot, et al.
European Journal of Human Genetics : EJHG|December 12, 2024
Further delineation of the SCAF4-associated neurodevelopmental disorderCosima M Schmid, Anne Gregor, Anna Ruiz, et al.
American Journal of Human Genetics|November 19, 2025
Bi-allelic PRMT9 loss-of-function variants cause a syndromic form of intellectual disabilityAriane Kröll-Hermi, Corinne Stoetzel, Christelle Etard, et al.
European Journal of Human Genetics : EJHG|October 23, 2023
Episignatures in practice: independent evaluation of published episignatures for the molecular diagnostics of ten neurodevelopmental disordersThomas Husson, François Lecoquierre, Gaël Nicolas, et al.
Brain : a Journal of Neurology|May 10, 2021
Biallelic variants in HPDL cause pure and complicated hereditary spastic paraplegiaManuela Wiessner, Reza Maroofian, Meng-Yuan Ni, et al.
Frontiers in Medicine|December 27, 2021
Cost-Effective Method to Perform SARS-CoV-2 Variant Surveillance: Detection of Alpha, Gamma, Lambda, Delta, Epsilon, and Zeta in ArgentinaCarolina Torres, Laura Mojsiejczuk, Dolores Acuña, et al.
Pancreatology : Official Journal of the International Association of Pancreatology (IAP) ... [Et Al.]|December 14, 2022
The PRSS3P2 and TRY7 deletion copy number variant modifies risk for chronic pancreatitisEmmanuelle Masson, Maren Ewers, Sumit Paliwal, et al.
Medrxiv : the Preprint Server for Health Sciences|March 23, 2026
Gene-by-Sleep Duration Interaction for Glycemic Traits in over 480,000 IndividualsHeming Wang, Pavithra Nagarajan, Clint L Miller, et al.
Research Square|March 4, 2025
A Large-Scale Genome-wide Association Study of Blood Pressure Accounting for Gene-Depressive Symptomatology Interactions in 564,680 Individuals from Diverse PopulationsSongmi Lee, Clint L Miller, Amy R Bentley, et al.
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