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Journal of Medical Genetics|August 6, 2010
Epigenotype-phenotype correlations in Silver-Russell syndromeE L Wakeling, S Abu Amero, M Alders, et al.Nature Communications|September 2, 2015
Mutations in NLRP5 are associated with reproductive wastage and multilocus imprinting disorders in humansLouise E Docherty, Faisal I Rezwan, Rebecca L Poole, et al.American Journal of Medical Genetics. Part A|June 23, 2015
Inside the 8p23.1 duplication syndrome; eight microduplications of likely or uncertain clinical significanceJohn C K Barber, Jill A Rosenfeld, John M Graham, et al.Nature Medicine|March 17, 2023
Genetic association analysis of 77,539 genomes reveals rare disease etiologiesDaniel Greene, , Daniela Pirri, et al.Journal of Medical Genetics|March 26, 2018
Maternal variants in <i>NLRP</i> and other maternal effect proteins are associated with multilocus imprinting disturbance in offspringMatthias Begemann, Faisal I Rezwan, Jasmin Beygo, et al.Nature Genetics|May 22, 2012
Dominant missense mutations in ABCC9 cause Cantú syndromeMagdalena Harakalova, Jeske J T van Harssel, Paulien A Terhal, et al.American Journal of Human Genetics|July 8, 2017
WDR26 Haploinsufficiency Causes a Recognizable Syndrome of Intellectual Disability, Seizures, Abnormal Gait, and Distinctive Facial FeaturesCara M Skraban, Constance F Wells, Preetha Markose, et al.NPJ Genomic Medicine|March 27, 2024
Expanding the clinical spectrum of biglycan-related Meester-Loeys syndromeJosephina A N Meester, Anne Hebert, Maaike Bastiaansen, et al.Genetics in Medicine : Official Journal of the American College of Medical Genetics|August 17, 2021
PPA2-associated sudden cardiac death: extending the clinical and allelic spectrum in 20 new familiesAnne Guimier, Melanie T Achleitner, Anne Moreau de Bellaing, et al.Science (New York, N.Y.)|May 18, 2019
Initial results from the New Horizons exploration of 2014 MU<sub>69</sub>, a small Kuiper Belt objectS A Stern, H A Weaver, J R Spencer, et al.Pageof 2