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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.Human Genetics|April 24, 2003
SONIC HEDGEHOG mutations causing human holoprosencephaly impair neural patterning activityCan Schell-Apacik, Mariel Rivero, Jessica L Knepper, et al.Anatomical Record (Hoboken, N.J. : 2007)|April 18, 2018
Clinical and Demographic Evaluation of a Holoprosencephaly Cohort From the Kyoto Collection of Human EmbryosYu Abe, Paul Kruszka, Ariel F Martinez, et al.American Journal of Human Genetics|August 2, 2011
Mutations in CDON, encoding a hedgehog receptor, result in holoprosencephaly and defective interactions with other hedgehog receptorsGyu-Un Bae, Sabina Domené, Erich Roessler, et al.Human Molecular Genetics|July 5, 2005
A previously unidentified amino-terminal domain regulates transcriptional activity of wild-type and disease-associated human GLI2Erich Roessler, Alexandre N Ermilov, Dorothy Katherine Grange, 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.Human Genetics|February 3, 2009
Truncating loss-of-function mutations of DISP1 contribute to holoprosencephaly-like microform features in humansErich Roessler, Yong Ma, Maia V Ouspenskaia, et al.American Journal of Medical Genetics. Part A|April 9, 2009
A novel SIX3 mutation segregates with holoprosencephaly in a large familyBenjamin D Solomon, Felicitas Lacbawan, Mahim Jain, et al.American Journal of Medical Genetics. Part A|December 28, 2002
Novel mutation in sonic hedgehog in non-syndromic colobomatous microphthalmiaLisa A Schimmenti, June de la Cruz, Richard Alan Lewis, et al.American Journal of Medical Genetics. Part B, Neuropsychiatric Genetics : the Official Publication of the International Society of Psychiatric Genetics|December 25, 2010
Screening of human LPHN3 for variants with a potential impact on ADHD susceptibilitySabina Domené, Horia Stanescu, Deeann Wallis, et al.Pageof 5