Exploring by whole exome sequencing patients with initial diagnosis of Rubinstein–Taybi syndrome: the interconnections of epigenetic machinery disorders

Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology

Sue Richards, Nazneen Aziz, Sherri J. Bale et al. · Genetics in Medicine · 2015 · 32.2K citations · Full text

Life Sciences, Genetics, Molecular Genetics +17

From FastQ Data to High‐Confidence Variant Calls: The Genome Analysis Toolkit Best Practices Pipeline

Géraldine Van der Auwera, Mauricio O. Carneiro, Christopher Hartl et al. · Current Protocols in Bioinformatics · 2013 · 7.2K citations

Life Sciences, Bioinformatics, Genetics +14

VarScan 2: Somatic mutation and copy number alteration discovery in cancer by exome sequencing

Daniel C. Koboldt, Qunyuan Zhang, David E. Larson et al. · Genome Research · 2012 · 5.3K citations · Full text

Medicine, Genetics, Oncology +17

Kabuki make-up syndrome: A syndrome of mentalretardation, unusual facies, large and protruding ears, and postnatal growth deficiency

Norio Niikawa, Nobuo Matsuura, Yoshimitsu Fukushima et al. · The Journal of Pediatrics · 1981 · 544 citations

Medicine, Human Development, Pediatrics +15

Broad Thumbs and Toes and Facial Abnormalities

Jack H. Rubinstein · American journal of diseases of children · 1963 · 512 citations

Medicine, Pediatrics, Psychiatry +6