Concepedia

Truncating Mutations in the Adhesion G Protein-Coupled Receptor G2 Gene ADGRG2 Cause an X-Linked Congenital Bilateral Absence of Vas Deferens

Olivier Patat, A. Pagin, Aurore Siegfried, Valérie Mitchell, Nicolas Chassaing, Stanislas Faguer, Laetitia Monteil, Véronique Gaston, Louis Bujan, Monique Courtade-Saïdi,

The American Journal of Human Genetics · 2016 · 162 citations · 23 references

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23

Analysis of protein-coding genetic variation in 60,706 humans

Monkol Lek, Konrad J. Karczewski, Eric Vallabh Minikel et al. · Nature · 2016 · 10.3K citations · Full text

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A unique view on male infertility around the globe

Ashok Agarwal, Aditi Mulgund, Alaa Hamada et al. · Reproductive Biology and Endocrinology · 2015 · 2.4K citations · Full text

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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 MLL2 mutations as a cause of Kabuki syndrome

Sarah Ng, Abigail W. Bigham, Kati J. Buckingham et al. · Nature Genetics · 2010 · 1.4K citations · Full text

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Mutations in the Cystic Fibrosis Gene in Patients with Congenital Absence of the Vas Deferens

Miguel Chillón, Teresa Casals, Bernard Mercier et al. · New England Journal of Medicine · 1995 · 967 citations · Full text

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