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American Journal of Medical Genetics. Part A|July 6, 2010
The face of Noonan syndrome: Does phenotype predict genotypeJudith E Allanson, Axel Bohring, Helmuth-Guenther Dörr, et al.Neuropediatrics|May 23, 2022
Recognizable Pattern of Arthrogryposis and Congenital Myopathy Caused by the Recurrent TTN Metatranscript-only c.39974-11T > G Splice VariantLuisa Averdunk, Sandra Donkervoort, Denise Horn, et al.Journal of Medical Genetics|June 26, 2026
Identification of biallelic loss-of-function <i>PREP</i> variants in three individuals with syndromic intellectual disabilityErik Hertstein, Miriam Bertrand, Johannes Kopp, et al.Journal of Human Genetics|April 25, 2019
SOPH syndrome in three affected individuals showing similarities with progeroid cutis laxa conditions in early infancyBjörn Fischer-Zirnsak, Rainer Koenig, Franz Alisch, et al.Journal of Medical Genetics|August 11, 2021
Biallelic truncating variants in <i>ATP9A</i> cause a novel neurodevelopmental disorder involving postnatal microcephaly and failure to thriveGuido Vogt, Sarah Verheyen, Sarina Schwartzmann, et al.American Journal of Human Genetics|June 9, 2005
Genotype-phenotype associations in Sotos syndrome: an analysis of 266 individuals with NSD1 aberrationsKatrina Tatton-Brown, Jenny Douglas, Kim Coleman, et al.Journal of Medical Genetics|June 3, 2015
Microdeletions on 6p22.3 are associated with mesomelic dysplasia Savarirayan typeRicarda Flöttmann, Johannes Wagner, Karolina Kobus, et al.Journal of Medical Genetics|October 5, 2013
A new face of Borjeson-Forssman-Lehmann syndrome? De novo mutations in PHF6 in seven females with a distinct phenotypeChristiane Zweier, Cornelia Kraus, Louise Brueton, et al.American Journal of Human Genetics|June 12, 2012
Mutations in PIGO, a member of the GPI-anchor-synthesis pathway, cause hyperphosphatasia with mental retardationPeter M Krawitz, Yoshiko Murakami, Jochen Hecht, et al.NPJ Genomic Medicine|April 3, 2026
A biallelic MRPL42 variant causes a combined oxidative phosphorylation deficiency syndrome revealed by multi-omicsFelix Boschann, Johannes Kopp, Susanne Römer, et al.Pageof 17