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American Journal of Medical Genetics. Part C, Seminars in Medical Genetics|May 18, 2018
Holoprosencephaly in the genomics eraErich Roessler, Ping Hu, Maximilian MuenkeHuman Molecular Genetics|April 2, 2003
How a Hedgehog might see holoprosencephalyErich Roessler, Maximilian MuenkeAmerican Journal of Medical Genetics. Part C, Seminars in Medical Genetics|January 28, 2010
The molecular genetics of holoprosencephalyErich Roessler, Maximilian MuenkeHuman Molecular Genetics|March 28, 2018
Loss-of-function mutations in FGF8 can be independent risk factors for holoprosencephalySungkook Hong, Ping Hu, Erich Roessler, et al.Genetics in Medicine : Official Journal of the American College of Medical Genetics|September 11, 2018
Low-level parental mosaicism affects the recurrence risk of holoprosencephalyPing Hu, Ariel F Martinez, Paul Kruszka, et al.Molecular Genetics and Metabolism|April 17, 2012
Molecular analysis of the Noggin (NOG) gene in holoprosencephaly patientsKshitij Srivastava, Ping Hu, Benjamin D Solomon, et al.Human Mutation|September 9, 2020
Rare hypomorphic human variation in the heptahelical domain of SMO contributes to holoprosencephaly phenotypesMomoko Nagai-Tanima, Sungkook Hong, Ping Hu, et al.Molecular Genetics and Metabolism|February 8, 2012
Utilizing prospective sequence analysis of SHH, ZIC2, SIX3 and TGIF in holoprosencephaly probands to describe the parameters limiting the observed frequency of mutant gene×gene interactionsErich Roessler, Jorge I Vélez, Nan Zhou, et al.Human Mutation|September 17, 2020
Functional analysis of Sonic Hedgehog variants associated with holoprosencephaly in humans using a CRISPR/Cas9 zebrafish modelSungkook Hong, Ping Hu, Jae Hee Jang, et al.Development (Cambridge, England)|January 13, 2006
A functional screen for sonic hedgehog regulatory elements across a 1 Mb interval identifies long-range ventral forebrain enhancersYongsu Jeong, Kenia El-Jaick, Erich Roessler, et al.Pageof 300