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Molecular Genetics and Metabolism|February 4, 2018
Cutis laxa, exocrine pancreatic insufficiency and altered cellular metabolomics as additional symptoms in a new patient with ATP6AP1-CDGBianca Dimitrov, Nastassja Himmelreich, Agnes L Hipgrave Ederveen, et al.
Molecular Genetics & Genomic Medicine|April 2, 2014
High mutation detection rates in cerebral cavernous malformation upon stringent inclusion criteria: one-third of probands are minorsStefanie Spiegler, Juliane Najm, Jian Liu, et al.
Journal of Neurochemistry|September 14, 2017
Frequent genes in rare diseases: panel-based next generation sequencing to disclose causal mutations in hereditary neuropathiesMaike F Dohrn, Nicola Glöckle, Lejla Mulahasanovic, et al.
American Journal of Human Genetics|August 1, 2017
Biallelic Mutations in LIPT2 Cause a Mitochondrial Lipoylation Defect Associated with Severe Neonatal EncephalopathyFlorence Habarou, Yamina Hamel, Tobias B Haack, et al.
Brain : a Journal of Neurology|March 2, 2013
'North Sea' progressive myoclonus epilepsy: phenotype of subjects with GOSR2 mutationLysa Boissé Lomax, Marta A Bayly, Helle Hjalgrim, et al.
Molecular Genetics and Metabolism|November 26, 2013
Guanidinoacetate methyltransferase (GAMT) deficiency: outcomes in 48 individuals and recommendations for diagnosis, treatment and monitoringSylvia Stockler-Ipsiroglu, Clara van Karnebeek, Nicola Longo, et al.
Ebiomedicine|July 3, 2022
KCNQ2 R144 variants cause neurodevelopmental disability with language impairment and autistic features without neonatal seizures through a gain-of-function mechanismFrancesco Miceli, Charissa Millevert, Maria Virginia Soldovieri, et al.
Science Translational Medicine|March 2, 2022
Pathogenic variants in MDFIC cause recessive central conducting lymphatic anomaly with lymphedemaAlicia B Byrne, Pascal Brouillard, Drew L Sutton, et al.
Neurology|December 14, 2018
SYNGAP1 encephalopathy: A distinctive generalized developmental and epileptic encephalopathyDanique R M Vlaskamp, Benjamin J Shaw, Rosemary Burgess, et al.
American Journal of Medical Genetics. Part A|December 21, 2024
Novel Digital Anomalies, Hippocampal Atrophy, and Mutations Expand the Genotypic and Phenotypic Spectra of CNKSR2 in the Houge Type of X-Linked Syndromic Intellectual Development Disorder (MRXSHG)Mohammad-Reza Ghasemi, Sahand Tehrani Fateh, Afif Ben-Mahmoud, et al.
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