Concepedia

NRXN1 deletion syndrome; phenotypic and penetrance data from 34 families

Maryam Al Shehhi, Eva Forman, Jacqueline Fitzgerald, Veronica McInerney, Janusz Krawczyk, Sanbing Shen, David R. Betts, Linda Mc Ardle, Kathleen M. Gorman, Mary D. King,

European Journal of Medical Genetics · 2018 · 73 citations · 15 references

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15

Mutations of the X-linked genes encoding neuroligins NLGN3 and NLGN4 are associated with autism

Stéphane Jamain, Hélène Quach, Catalina Betancur et al. · Nature Genetics · 2003 · 1.8K citations · Full text

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A recurrent 16p12.1 microdeletion supports a two-hit model for severe developmental delay

Santhosh Girirajan, Jill A. Rosenfeld, Gregory M. Cooper et al. · Nature Genetics · 2010 · 674 citations · Full text

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Cartography of neurexins: More than 1000 isoforms generated by alternative splicing and expressed in distinct subsets of neurons

B. Ullrich, Yuri A. Ushkaryov, Thomas C. Südhof · Neuron · 1995 · 469 citations · Full text

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Estimates of penetrance for recurrent pathogenic copy-number variations

Jill A. Rosenfeld, Bradley P. Coe, Evan E. Eichler et al. · Genetics in Medicine · 2012 · 433 citations · Full text

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Cartography of neurexin alternative splicing mapped by single-molecule long-read mRNA sequencing

Barbara Treutlein, Özgün Gökçe, Stephen R. Quake et al. · Proceedings of the National Academy of Sciences · 2014 · 385 citations · Full text

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