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Nature Genetics|December 7, 2010
Mutations in genes encoding subunits of RNA polymerases I and III cause Treacher Collins syndromeJohannes G Dauwerse, Jill Dixon, Saskia Seland, et al.American Journal of Human Genetics|February 3, 2016
Small 6q16.1 Deletions Encompassing POU3F2 Cause Susceptibility to Obesity and Variable Developmental Delay with Intellectual DisabilityPaul R Kasher, Katherine E Schertz, Megan Thomas, et al.American Journal of Medical Genetics. Part A|April 23, 2015
The third international meeting on genetic disorders in the RAS/MAPK pathway: towards a therapeutic approachBruce Korf, Reza Ahmadian, Judith Allanson, et al.American Journal of Medical Genetics. Part A|February 24, 2011
Clinical, pathological, and molecular analyses of cardiovascular abnormalities in Costello syndrome: a Ras/MAPK pathway syndromeAngela E Lin, Mark E Alexander, Steven D Colan, et al.Gut|December 3, 2009
The variable phenotype of the p.A16V mutation of cationic trypsinogen (PRSS1) in pancreatitis familiesChristopher J Grocock, Vinciane Rebours, Myriam N Delhaye, et al.American Journal of Medical Genetics. Part A|May 8, 2016
The Fourth International Symposium on Genetic Disorders of the Ras/MAPK pathwayDavid A Stevenson, Lisa Schill, Lisa Schoyer, et al.Genome Research|December 28, 2018
Pathogenicity and selective constraint on variation near splice sitesJenny Lord, Giuseppe Gallone, Patrick J Short, et al.Journal of Medical Genetics|April 21, 2021
Personalised virtual gene panels reduce interpretation workload and maintain diagnostic rates of proband-only clinical exome sequencing for rare disordersLeslie Patricia Molina-Ramírez, Claire Kyle, Jamie M Ellingford, et al.American Journal of Medical Genetics. Part A|March 26, 2019
First International Conference on RASopathies and Neurofibromatoses in Asia: Identification and advances of new therapeuticsKatherine A Rauen, Abeer Alsaegh, Shay Ben-Shachar, et al.American Journal of Human Genetics|May 22, 2021
Non-coding region variants upstream of MEF2C cause severe developmental disorder through three distinct loss-of-function mechanismsCaroline F Wright, Nicholas M Quaife, Laura Ramos-Hernández, et al.Pageof 7