Concepedia

Traditional and targeted exome sequencing reveals common, rare and novel functional deleterious variants in RET-signaling complex in a cohort of living US patients with urinary tract malformations

Rajshekhar Chatterjee, Enrique Ramos, Mary Hoffman, Jessica VanWinkle, Daniel R. Martin, T. Keefe Davis, Masato Hoshi, S. Paul Hmiel, Anne Marie Beck, Keith A. Hruska,

Human Genetics · 2012 · 90 citations · 33 references

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33

Targeted capture and massively parallel sequencing of 12 human exomes

Sarah Ng, Emily H. Turner, Peggy D. Robertson et al. · Nature · 2009 · 2K citations · Full text

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Exome sequencing identifies the cause of a mendelian disorder

Sarah Ng, Kati J. Buckingham, Choli Lee et al. · Nature Genetics · 2009 · 1.9K citations · Full text

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Defects in the kidney and enteric nervous system of mice lacking the tyrosine kinase receptor Ret

Anita Schuchardt, Vivette D. D’Agati, Lena Larsson-Blomberg et al. · Nature · 1994 · 1.6K citations

, , +14

Renal and neuronal abnormalities in mice lacking GDNF

Mark W. Moore, Robert D. Klein, Isabel Fariñas et al. · Nature · 1996 · 1.3K citations

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Renal agenesis and the absence of enteric neurons in mice lacking GDNF

Marina P. Sánchez, Inmaculada Silos‐Santiago, Jonas Frisén et al. · Nature · 1996 · 1.2K citations

, , +9