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European Journal of Human Genetics : EJHG|November 6, 2008
Structural variation in Xq28: MECP2 duplications in 1% of patients with unexplained XLMR and in 2% of male patients with severe encephalopathyDorien Lugtenberg, Tjitske Kleefstra, Astrid R Oudakker, et al.American Journal of Human Genetics|July 13, 2010
Heterozygous germline mutations in the CBL tumor-suppressor gene cause a Noonan syndrome-like phenotypeSimone Martinelli, Alessandro De Luca, Emilia Stellacci, et al.American Journal of Human Genetics|February 12, 2013
Mutations in MED12 cause X-linked Ohdo syndromeAnneke T Vulto-van Silfhout, Bert B A de Vries, Bregje W M van Bon, et al.European Journal of Human Genetics : EJHG|September 15, 2017
Identification of causative variants in TXNL4A in Burn-McKeown syndrome and isolated choanal atresiaJacqueline A C Goos, Sigrid M A Swagemakers, Stephen R F Twigg, et al.American Journal of Human Genetics|January 28, 2014
NR2F1 mutations cause optic atrophy with intellectual disabilityDaniëlle G M Bosch, F Nienke Boonstra, Claudia Gonzaga-Jauregui, et al.Journal of Medical Genetics|May 7, 2013
GATAD2B loss-of-function mutations cause a recognisable syndrome with intellectual disability and are associated with learning deficits and synaptic undergrowth in DrosophilaMarjolein H Willemsen, Bonnie Nijhof, Michaela Fenckova, et al.Frontiers in Genetics|January 23, 2024
Lessons learned from rapid exome sequencing for 575 critically ill patients across the broad spectrum of rare diseaseAbderrahim Marouane, Kornelia Neveling, A Chantal Deden, et al.Nature Neuroscience|August 2, 2016
Meta-analysis of 2,104 trios provides support for 10 new genes for intellectual disabilityStefan H Lelieveld, Margot R F Reijnders, Rolph Pfundt, et al.Prenatal Diagnosis|April 26, 2020
Rapid whole exome sequencing in pregnancies to identify the underlying genetic cause in fetuses with congenital anomalies detected by ultrasound imagingChantal Deden, Kornelia Neveling, Dimitra Zafeiropopoulou, et al.Nature Genetics|November 25, 2003
Mutations in the polyglutamine binding protein 1 gene cause X-linked mental retardationVera M Kalscheuer, Kristine Freude, Luciana Musante, et al.Pageof 12