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Myhre syndrome is caused by dominant-negative dysregulation of SMAD4 and other co-factors

Dimuthu Alankarage, Annabelle Enriquez, Robert D. Steiner, Cathy Raggio, Megan Higgins, Di Milnes, David T. Humphreys, Emma L. Duncan, Duncan B. Sparrow, Philip F. Giampietro,

Differentiation · 2022 · 18 citations · 51 references

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51

The mutational constraint spectrum quantified from variation in 141,456 humans

Konrad J. Karczewski, Laurent C. Francioli, Grace Tiao et al. · Nature · 2020 · 10.1K citations · Full text

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Epigenetic Regulations of GABAergic Neurotransmission: Relevance for Neurological Disorders and Epigenetic Therapy

Shikshya Shrestha, Steven M. Offer · Medical Epigenetics · 2016 · 9K citations · Full text

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ClinVar: public archive of interpretations of clinically relevant variants

Melissa Landrum, Jennifer M. Lee, Mark J. Benson et al. · Nucleic Acids Research · 2015 · 2.9K citations · Full text

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Congenital Heart Disease Caused by Mutations in the Transcription Factor <i>NKX2-5</i>

Jean‐Jacques Schott, D. Woodrow Benson, Craig T. Basson et al. · Science · 1998 · 1.3K citations

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Smad6 inhibits signalling by the TGF-β superfamily

Takeshi Imamura, Masao Takase, Ayako Nishihara et al. · Nature · 1997 · 1K citations

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