J. Wood

Determinants of penetrance and variable expressivity in monogenic metabolic conditions across 77,184 exomes

Y. J. Kim, Kristin A. Maloney, C. Gieger, 2020, Nature Communications.

Distinguishing features of long COVID identified through immune profiling

C. D. Dela Cruz, D. van Dijk, R. Medzhitov, 2022, Nature.

Heterozygous variants in KMT2E cause a spectrum of neurodevelopmental disorders and epilepsy

Carol J. Saunders, C. Saunders, I. Thiffault, 2019, bioRxiv.

Centers for Mendelian Genomics: A decade of facilitating gene discovery

Jeffrey M. Weiss, Ryan L. Collins, Jack M. Fu, 2021, medRxiv.

COVID-19 vaccine hesitancy among individuals with cancer, autoimmune diseases, and other serious comorbid conditions

S. Goldberg, J. Hervey, B. Loew, 2021, medRxiv.

Recommendations for clinical interpretation of variants found in non-coding regions of the genome

K. Downes, H. Rehm, D. Baralle, 2021, Genome Medicine.

Genomic autopsy to identify underlying causes of pregnancy loss and perinatal death

Ryan L. Collins, Jack M. Fu, Beryl B. Cummings, 2023, Nature Medicine.

Advanced variant classification framework reduces the false positive rate of predicted loss of function (pLoF) variants in population sequencing data

D. MacArthur, K. Karczewski, H. Rehm, 2023, medRxiv.

Natural History of TANGO2 Deficiency Disorder: Baseline Assessment of 73 Patients.

Mahshid S. Azamian, S. Lalani, S. Morris, 2022, Genetics in medicine : official journal of the American College of Medical Genetics.

Advanced variant classification framework reduces the false positive rate of predicted loss-of-function variants in population sequencing data.

D. MacArthur, K. Karczewski, H. Rehm, 2023, American journal of human genetics.