Imma Rost

Deep sequencing reveals 50 novel genes for recessive cognitive disorders

Hossein Najmabadi, Hao Hu, Masoud Garshasbi et al. · Nature · 2011 · 987 citations

Life Sciences, Genetics, Molecular Genetics +12

Mapping translocation breakpoints by next-generation sequencing

Wei Chen, Vera M. Kalscheuer, Andreas Tzschach et al. · Genome Research · 2008 · 138 citations · Full text

Life Sciences, Genetics, Molecular Genetics +17

Familial Mental Retardation Syndrome ATR-16 Due to an Inherited Cryptic Subtelomeric Translocation, t(3;16)(q29;p13.3)

Elke Holinski‐Feder, Edwin Reyniers, Sabine Uhrig et al. · The American Journal of Human Genetics · 2000 · 86 citations · Full text

Life Sciences, Genetics, Molecular Genetics +7

Phenotypic features of carbohydrate sulfotransferase 3 (CHST3) deficiency in 24 patients: Congenital dislocations and vertebral changes as principal diagnostic features

Sheila Unger, Ekkehart Lausch, Antonio Rossi et al. · American Journal of Medical Genetics Part A · 2010 · 82 citations

Life Sciences, Genetics, Molecular Genetics +17

Impact on Clinical Decision Making of Next-Generation Sequencing in Pediatric Epilepsy in a Tertiary Epilepsy Referral Center

Hannes Hoelz, Christian Herdl, Lucia Gerstl et al. · Clinical EEG and Neuroscience · 2019 · 44 citations · Full text

Medicine, Genetics, Pediatrics +16