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Nature Genetics|July 18, 2006
Mutations in genes encoding ribonuclease H2 subunits cause Aicardi-Goutières syndrome and mimic congenital viral brain infectionYanick J Crow, Andrea Leitch, Bruce E Hayward, et al.Nature Genetics|May 12, 2015
PDE3A mutations cause autosomal dominant hypertension with brachydactylyPhilipp G Maass, Atakan Aydin, Friedrich C Luft, et al.American Journal of Medical Genetics. Part A|February 5, 2016
Clinical delineation of the PACS1-related syndrome--Report on 19 patientsJanneke H M Schuurs-Hoeijmakers, Megan L Landsverk, Nicola Foulds, et al.Brain : a Journal of Neurology|December 8, 2022
Variants in CLDN5 cause a syndrome characterized by seizures, microcephaly and brain calcificationsAshish R Deshwar, Cheryl Cytrynbaum, Harsha Murthy, et al.Neuron|October 22, 2013
Deficiency of asparagine synthetase causes congenital microcephaly and a progressive form of encephalopathyElizabeth K Ruzzo, José-Mario Capo-Chichi, Bruria Ben-Zeev, et al.Journal of Medical Genetics|August 14, 2023
Further delineation of the rare GDACCF (global developmental delay, absent or hypoplastic corpus callosum, dysmorphic facies syndrome): genotype and phenotype of 22 patients with ZNF148 mutationsKatalin Szakszon, Charles Marques Lourenco, Bert Louis Callewaert, et al.Human Mutation|November 19, 2011
Spectrum of mutations in the renin-angiotensin system genes in autosomal recessive renal tubular dysgenesisOlivier Gribouval, Vincent Morinière, Audrey Pawtowski, et al.Genetics in Medicine Open|June 5, 2025
Autosomal dominant HK1-related neurodevelopmental disorder with visual defects and brain anomalies (NEDVIBA): An emerging mitochondrial disorderBobby G Ng, Erik A Eklund, Jill A Rosenfeld, et al.JCI Insight|September 16, 2016
PIK3CA-associated developmental disorders exhibit distinct classes of mutations with variable expression and tissue distributionGhayda Mirzaa, Andrew E Timms, Valerio Conti, et al.American Journal of Human Genetics|May 21, 2024
Etiological involvement of KCND1 variants in an X-linked neurodevelopmental disorder with variable expressivityTassja Kalm, Claudia Schob, Hanna Völler, et al.Pageof 45