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Medrxiv : the Preprint Server for Health Sciences|April 22, 2024
<i>De novo</i> variants in the non-coding spliceosomal snRNA gene <i>RNU4-2</i> are a frequent cause of syndromic neurodevelopmental disordersYuyang Chen, Ruebena Dawes, Hyung Chul Kim, et al.
Medrxiv : the Preprint Server for Health Sciences|May 19, 2023
Clinical Characteristics, Racial Inequities, and Outcomes in Patients with Breast Cancer and COVID-19: A COVID-19 and Cancer Consortium (CCC19) Cohort StudyGayathri Nagaraj, Shaveta Vinayak, Ali Raza Khaki, et al.
Elife|October 17, 2023
Clinical characteristics, racial inequities, and outcomes in patients with breast cancer and COVID-19: A COVID-19 and cancer consortium (CCC19) cohort studyGayathri Nagaraj, Shaveta Vinayak, Ali Raza Khaki, et al.
Nature|July 11, 2024
De novo variants in the RNU4-2 snRNA cause a frequent neurodevelopmental syndromeYuyang Chen, Ruebena Dawes, Hyung Chul Kim, et al.
Human Molecular Genetics|November 13, 2015
A meta-analysis of 120 246 individuals identifies 18 new loci for fibrinogen concentrationPaul S de Vries, Daniel I Chasman, Maria Sabater-Lleal, et al.
Nature|October 9, 2024
CTLA4 blockade abrogates KEAP1/STK11-related resistance to PD-(L)1 inhibitorsFerdinandos Skoulidis, Haniel A Araujo, Minh Truong Do, et al.
Movement Disorders : Official Journal of the Movement Disorder Society|January 24, 2023
Embracing Monogenic Parkinson's Disease: The MJFF Global Genetic PD CohortEva-Juliane Vollstedt, Susen Schaake, Katja Lohmann, et al.
Plos Genetics|November 3, 2022
Exome-wide association study to identify rare variants influencing COVID-19 outcomes: Results from the Host Genetics InitiativeGuillaume Butler-Laporte, Gundula Povysil, Jack A Kosmicki, et al.
Nature Genetics|July 22, 2024
Next-generation phenotyping integrated in a national framework for patients with ultrarare disorders improves genetic diagnostics and yields new molecular findingsAxel Schmidt, Magdalena Danyel, Kathrin Grundmann, et al.
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