Whole-genome sequencing expands diagnostic utility and improves clinical management in paediatric medicineDimitri J. Stavropoulos, Cheryl Shuman, Daniele Merico et al.|npj Genomic Medicine|2016Cited by 377
ARIH2 is essential for embryogenesis, and its hematopoietic deficiency causes lethal activation of the immune systemAmy E. Lin, Marc Pellegrini, Gregor Ebert et al.|Nature Immunology|2012Cited by 39
Standard operating procedure for curation and clinical interpretation of variants in cancerArpad Danos, Obi L. Griffith, Shruti Rao et al.|Genome Medicine|2019Cited by 26
Early-onset renal cell carcinoma in PTEN harmatoma tumour syndromeRaymond H. Kim, Charis Eng|npj Genomic Medicine|2020Cited by 21
A community approach to the cancer-variant-interpretation bottleneckKilannin Krysiak, Alex H. Wagner, Arpad Danos et al.|Nature Cancer|2022Cited by 15