Concepedia

Gain-of-Function MN1 Truncation Variants Cause a Recognizable Syndrome with Craniofacial and Brain Abnormalities

Noriko Miyake, Hidehisa Takahashi, Kazuyuki Nakamura, Bertrand Isidor, Yoko Hiraki, Eriko Koshimizu, Masaaki Shiina, Kazunori Sasaki, Hidefumi Suzuki, Ryota Abe,

The American Journal of Human Genetics · 2019 · 40 citations · 46 references

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46

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

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Accurate transcription initiation by RNA polymerase II in a soluble extract from isolated mammalian nuclei

John David Dignam, Russell M. Lebovitz, R G Roeder · Nucleic Acids Research · 1983 · 11.6K citations · Full text

, , +17

Protocol for micro-purification, enrichment, pre-fractionation and storage of peptides for proteomics using StageTips

Juri Rappsilber, Matthias Mann, Yasushi Ishihama · Nature Protocols · 2007 · 4.9K citations

, , +10

Master Transcription Factors and Mediator Establish Super-Enhancers at Key Cell Identity Genes

Warren A. Whyte, David A. Orlando, Denes Hnisz et al. · Cell · 2013 · 4.3K citations · Full text

, , +16

Super-Enhancers in the Control of Cell Identity and Disease

Denes Hnisz, Brian J. Abraham, Tong Ihn Lee et al. · Cell · 2013 · 3.9K citations · Full text

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