Concepedia

Loss-of-Function Variants in PPP1R12A: From Isolated Sex Reversal to Holoprosencephaly Spectrum and Urogenital Malformations

Joel Hughes, Ebba Alkhunaizi, Paul Kruszka, Louise C. Pyle, Dorothy K. Grange, Seth Berger, Katelyn Payne, Diane Masser‐Frye, Tommy Hu, Michelle R. Christie,

The American Journal of Human Genetics · 2019 · 51 citations · 25 references

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25

Cyclopia and defective axial patterning in mice lacking Sonic hedgehog gene function

Chin Chiang, Ying Litingtung, Eric Lee et al. · Nature · 1996 · 3.1K citations

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GeneMatcher: A Matching Tool for Connecting Investigators with an Interest in the Same Gene

Nara Sobreira, François Schiettecatte, David Valle et al. · Human Mutation · 2015 · 1.6K citations · Full text

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Evidence for the widespread coupling of alternative splicing and nonsense-mediated mRNA decay in humans

Benjamin P. Lewis, Richard E. Green, Steven E. Brenner · Proceedings of the National Academy of Sciences · 2002 · 1.1K citations · Full text

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Zebrafish organizer development and germ-layer formation require nodal-related signals

Benjamin Feldman, Michael A. Gates, Elizabeth S. Egan et al. · Nature · 1998 · 670 citations

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Statistically based splicing detection reveals neural enrichment and tissue-specific induction of circular RNA during human fetal development

Linda Szabo, Robert Morey, Nathan J. Palpant et al. · Genome biology · 2015 · 644 citations · Full text

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