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Physical Review Letters|January 30, 2016
Spectroscopic Quadrupole Moments in {96,98}Sr: Evidence for Shape Coexistence in Neutron-Rich Strontium Isotopes at N=60E Clément, M Zielińska, A Görgen, et al.
European Journal of Human Genetics : EJHG|May 22, 2024
Comparison of the ABC and ACMG systems for variant classificationGunnar Houge, Eirik Bratland, Ingvild Aukrust, et al.
European Journal of Human Genetics : EJHG|January 26, 2019
De novo variants in FBXO11 cause a syndromic form of intellectual disability with behavioral problems and dysmorphismsSandra Jansen, Ilse M van der Werf, A Micheil Innes, et al.
American Journal of Human Genetics|May 7, 2021
Variants in the degron of AFF3 are associated with intellectual disability, mesomelic dysplasia, horseshoe kidney, and epileptic encephalopathyNorine Voisin, Rhonda E Schnur, Sofia Douzgou, et al.
Genome Medicine|May 22, 2021
Genotype-phenotype correlations and novel molecular insights into the DHX30-associated neurodevelopmental disordersIlaria Mannucci, Nghi D P Dang, Hannes Huber, et al.
Physical Review Letters|May 13, 2014
Shape coexistence in the neutron-deficient even-even (182-188)Hg isotopes studied via coulomb excitationN Bree, K Wrzosek-Lipska, A Petts, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|August 17, 2025
Pathogenic XPO1 variants cause a dominant neurodevelopmental disorderAmber S E van Oirsouw, Pavla Nedbalova, Miroslava Hancarova, et al.
American Journal of Human Genetics|November 19, 2025
Bi-allelic PRMT9 loss-of-function variants cause a syndromic form of intellectual disabilityAriane Kröll-Hermi, Corinne Stoetzel, Christelle Etard, et al.
American Journal of Human Genetics|April 28, 2021
Truncating SRCAP variants outside the Floating-Harbor syndrome locus cause a distinct neurodevelopmental disorder with a specific DNA methylation signatureDmitrijs Rots, Eric Chater-Diehl, Alexander J M Dingemans, et al.
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