Recurrent mutations in the CDKL5 gene: genotype-phenotype relationships.

Clinical features and gene mutational spectrum of CDKL5-related diseases in a cohort of Chinese patients. BMC Med Genet (2014) 0.85

Prevalence and onset of comorbidities in the CDKL5 disorder differ from Rett syndrome. Orphanet J Rare Dis (2016) 0.83

There is variability in the attainment of developmental milestones in the CDKL5 disorder. J Neurodev Disord (2015) 0.82

Loss of CDKL5 impairs survival and dendritic growth of newborn neurons by altering AKT/GSK-3β signaling. Neurobiol Dis (2014) 0.81

Molecular and genetic insights into an infantile epileptic encephalopathy - CDKL5 disorder. Front Biol (Beijing) (2017) 0.75

A systematic, large-scale resequencing screen of X-chromosome coding exons in mental retardation. Nat Genet (2009) 8.30

Duplication of the MECP2 region is a frequent cause of severe mental retardation and progressive neurological symptoms in males. Am J Hum Genet (2005) 3.87

Mutations in GRIN2A and GRIN2B encoding regulatory subunits of NMDA receptors cause variable neurodevelopmental phenotypes. Nat Genet (2010) 3.82

Impaired glycosylation and cutis laxa caused by mutations in the vesicular H+-ATPase subunit ATP6V0A2. Nat Genet (2007) 3.02

Mutations in the JARID1C gene, which is involved in transcriptional regulation and chromatin remodeling, cause X-linked mental retardation. Am J Hum Genet (2004) 2.99

Expansion of the fragile X CGG repeat in females with premutation or intermediate alleles. Am J Hum Genet (2003) 2.71

Multiple phenotypes in phosphoglucomutase 1 deficiency. N Engl J Med (2014) 2.62

Mirror extreme BMI phenotypes associated with gene dosage at the chromosome 16p11.2 locus. Nature (2011) 2.59

Genetics and pathophysiology of mental retardation. Eur J Hum Genet (2006) 2.52

Large spectrum of lissencephaly and pachygyria phenotypes resulting from de novo missense mutations in tubulin alpha 1A (TUBA1A). Hum Mutat (2007) 2.24

Mecp2 deficiency disrupts norepinephrine and respiratory systems in mice. J Neurosci (2005) 2.20

Congenital disorders of glycosylation: a rapidly expanding disease family. Annu Rev Genomics Hum Genet (2007) 2.12

Mutations in the transcription factor gene SOX18 underlie recessive and dominant forms of hypotrichosis-lymphedema-telangiectasia. Am J Hum Genet (2003) 2.10

Legal uncertainty in the area of genetic diagnostic testing. Nat Biotechnol (2009) 2.00

Models for facilitating access to patents on genetic inventions. Nat Rev Genet (2006) 1.89

Mutations in the small GTPase gene RAB39B are responsible for X-linked mental retardation associated with autism, epilepsy, and macrocephaly. Am J Hum Genet (2010) 1.87

Diagnostic guidelines for high-resolution melting curve (HRM) analysis: an interlaboratory validation of BRCA1 mutation scanning using the 96-well LightScanner. Hum Mutat (2009) 1.84

Oligosaccharyltransferase-subunit mutations in nonsyndromic mental retardation. Am J Hum Genet (2008) 1.82

Nonrecurrent MECP2 duplications mediated by genomic architecture-driven DNA breaks and break-induced replication repair. Genome Res (2008) 1.81

Submicroscopic duplications of the hydroxysteroid dehydrogenase HSD17B10 and the E3 ubiquitin ligase HUWE1 are associated with mental retardation. Am J Hum Genet (2008) 1.80

Detection of genomic copy number changes in patients with idiopathic mental retardation by high-resolution X-array-CGH: important role for increased gene dosage of XLMR genes. Hum Mutat (2007) 1.79

Detection of exonic copy-number changes using a highly efficient oligonucleotide-based comparative genomic hybridization-array method. Hum Mutat (2008) 1.78

Mutations in the X-linked cyclin-dependent kinase-like 5 (CDKL5/STK9) gene are associated with severe neurodevelopmental retardation. Am J Hum Genet (2004) 1.78

Global distribution of the most prevalent deletions causing hypotonia-cystinuria syndrome. Eur J Hum Genet (2007) 1.78

Pancreas divisum is not a cause of pancreatitis by itself but acts as a partner of genetic mutations. Am J Gastroenterol (2011) 1.71

A standardized framework for the validation and verification of clinical molecular genetic tests. Eur J Hum Genet (2010) 1.70

Mutation frequencies of X-linked mental retardation genes in families from the EuroMRX consortium. Hum Mutat (2007) 1.68

The enlarging clinical, genetic, and population spectrum of tumor necrosis factor receptor-associated periodic syndrome. Arthritis Rheum (2002) 1.67

KIF1A, an axonal transporter of synaptic vesicles, is mutated in hereditary sensory and autonomic neuropathy type 2. Am J Hum Genet (2011) 1.66

Key clinical features to identify girls with CDKL5 mutations. Brain (2008) 1.59

Absence epilepsy with onset before age three years: a heterogeneous and often severe condition. Epilepsia (2003) 1.57

Conserved oligomeric Golgi complex subunit 1 deficiency reveals a previously uncharacterized congenital disorder of glycosylation type II. Proc Natl Acad Sci U S A (2006) 1.56

A conserved switch in sensory processing prepares developing neocortex for vision. Neuron (2010) 1.55

Psychiatric and cognitive phenotype of childhood myotonic dystrophy type 1. Dev Med Child Neurol (2012) 1.53

Diagnosis of cystic fibrosis in adults with diffuse bronchiectasis. J Cyst Fibros (2004) 1.50

CDG nomenclature: time for a change! Biochim Biophys Acta (2009) 1.49

Screening for FMR-1 premutations in 122 older Flemish males presenting with ataxia. Eur J Hum Genet (2005) 1.49

X chromosome array-CGH for the identification of novel X-linked mental retardation genes. Eur J Med Genet (2005) 1.47

Patenting and licensing in genetic testing: ethical, legal, and social issues. Eur J Hum Genet (2008) 1.45

Another patient with cryptic unbalanced translocation between chromosomes 4q and 18q: evidence by microarray CGH. Am J Med Genet A (2004) 1.45

Missense mutations in SLC26A8, encoding a sperm-specific activator of CFTR, are associated with human asthenozoospermia. Am J Hum Genet (2013) 1.45

Acute-onset chorea, dystonia, and cardiac fibroelastoma in a child: a paraneoplastic association? Mov Disord (2012) 1.44

Paroxysmal exercise-induced dyskinesia and epilepsy is due to mutations in SLC2A1, encoding the glucose transporter GLUT1. Brain (2008) 1.41

A new inborn error of glycosylation due to a Cog8 deficiency reveals a critical role for the Cog1-Cog8 interaction in COG complex formation. Hum Mol Genet (2007) 1.40

Evidence for increased SOX3 dosage as a risk factor for X-linked hypopituitarism and neural tube defects. Am J Med Genet A (2014) 1.39

Large deletions of the APC gene in 15% of mutation-negative patients with classical polyposis (FAP): a Belgian study. Hum Mutat (2005) 1.39

Functional characterization of GATA3 mutations causing the hypoparathyroidism-deafness-renal (HDR) dysplasia syndrome: insight into mechanisms of DNA binding by the GATA3 transcription factor. Hum Mol Genet (2007) 1.36

Patent pools and diagnostic testing. Trends Biotechnol (2006) 1.36

Structural variation in Xq28: MECP2 duplications in 1% of patients with unexplained XLMR and in 2% of male patients with severe encephalopathy. Eur J Hum Genet (2008) 1.34

Deficiencies in subunits of the Conserved Oligomeric Golgi (COG) complex define a novel group of Congenital Disorders of Glycosylation. Mol Genet Metab (2007) 1.33

Gross genomic rearrangements involving deletions in the CFTR gene: characterization of six new events from a large cohort of hitherto unidentified cystic fibrosis chromosomes and meta-analysis of the underlying mechanisms. Eur J Hum Genet (2006) 1.33

Detailed glycan analysis of serum glycoproteins of patients with congenital disorders of glycosylation indicates the specific defective glycan processing step and provides an insight into pathogenesis. Glycobiology (2003) 1.32

Golgi function and dysfunction in the first COG4-deficient CDG type II patient. Hum Mol Genet (2009) 1.32

PML nuclear bodies are highly organised DNA-protein structures with a function in heterochromatin remodelling at the G2 phase. J Cell Sci (2006) 1.30

DPM2-CDG: a muscular dystrophy-dystroglycanopathy syndrome with severe epilepsy. Ann Neurol (2012) 1.29

Clinical evaluation of a reverse hybridization assay for the molecular detection of twelve MEFV gene mutations. Clin Chem (2003) 1.27

Mutations in NOTCH2 in families with Hajdu-Cheney syndrome. Hum Mutat (2011) 1.25

Identification of TRAF6-dependent NEMO polyubiquitination sites through analysis of a new NEMO mutation causing incontinentia pigmenti. Hum Mol Genet (2007) 1.25

Mutation spectrum in the large GTPase dynamin 2, and genotype-phenotype correlation in autosomal dominant centronuclear myopathy. Hum Mutat (2012) 1.25

Cell domain-dependent changes in the glutamatergic and GABAergic drives during epileptogenesis in the rat CA1 region. J Physiol (2006) 1.24

Kallmann syndrome: 14 novel mutations in KAL1 and FGFR1 (KAL2). Hum Mutat (2005) 1.23

Treatment with desipramine improves breathing and survival in a mouse model for Rett syndrome. Eur J Neurosci (2007) 1.23

A novel mutation (T65P) in the PAS domain of the human potassium channel HERG results in the long QT syndrome by trafficking deficiency. J Biol Chem (2002) 1.22

Clinical and molecular characterization of 17q21.31 microdeletion syndrome in 14 French patients with mental retardation. Eur J Med Genet (2010) 1.21

Mechanisms for variable expressivity of inherited SCN1A mutations causing Dravet syndrome. J Med Genet (2010) 1.21

Genetic screening of LCA in Belgium: predominance of CEP290 and identification of potential modifier alleles in AHI1 of CEP290-related phenotypes. Hum Mutat (2010) 1.21

TMEM165 deficiency causes a congenital disorder of glycosylation. Am J Hum Genet (2012) 1.20

Neuroanatomical distribution of ARX in brain and its localisation in GABAergic neurons. Brain Res Mol Brain Res (2004) 1.19

Epileptic and nonepileptic features in patients with early onset epileptic encephalopathy and STXBP1 mutations. Epilepsia (2011) 1.18

Deleterious mutations in exon 1 of MECP2 in Rett syndrome. Eur J Med Genet (2005) 1.17

Targeted disruption of the mouse phosphomannomutase 2 gene causes early embryonic lethality. Mol Cell Biol (2006) 1.15

Congenital disorders of glycosylation: a review. Pediatr Res (2002) 1.15

Subtelomeric deletion of chromosome 10p15.3: clinical findings and molecular cytogenetic characterization. Am J Med Genet A (2012) 1.15

A common mutation in the COG7 gene with a consistent phenotype including microcephaly, adducted thumbs, growth retardation, VSD and episodes of hyperthermia. Eur J Hum Genet (2007) 1.14

Network analysis of differential expression for the identification of disease-causing genes. PLoS One (2009) 1.14

Novel compound heterozygous mutations in TBC1D24 cause familial malignant migrating partial seizures of infancy. Hum Mutat (2013) 1.13

Revisiting the phenotype associated with FOXG1 mutations: two novel cases of congenital Rett variant. Neurogenetics (2009) 1.13

The E148Q MEFV allele is not implicated in the development of familial Mediterranean fever. Hum Mutat (2003) 1.11

Dosage-dependent severity of the phenotype in patients with mental retardation due to a recurrent copy-number gain at Xq28 mediated by an unusual recombination. Am J Hum Genet (2009) 1.11

Deletion of PREPL, a gene encoding a putative serine oligopeptidase, in patients with hypotonia-cystinuria syndrome. Am J Hum Genet (2005) 1.11

The three stages of epilepsy in patients with CDKL5 mutations. Epilepsia (2008) 1.11

Phenotypic spectrum associated with CASK loss-of-function mutations. J Med Genet (2011) 1.11

Unusual presentation of congenital disorder of glycosylation type 1a: congenital persistent thrombocytopenia, hypertrophic cardiomyopathy and hydrops-like aspect due to marked peripheral oedema. Eur J Pediatr (2005) 1.10

Recurrent rearrangements in the proximal 15q11-q14 region: a new breakpoint cluster specific to unbalanced translocations. Eur J Hum Genet (2007) 1.09

STXBP1-related encephalopathy presenting as infantile spasms and generalized tremor in three patients. Epilepsia (2011) 1.09

The incidence of Rett syndrome in France. Pediatr Neurol (2006) 1.09

Disruption of the ATP8A2 gene in a patient with a t(10;13) de novo balanced translocation and a severe neurological phenotype. Eur J Hum Genet (2010) 1.08

Patenting genes. BMJ (2004) 1.08

Epilepsy related to hypothalamic hamartomas: surgical management with special reference to gamma knife surgery. Childs Nerv Syst (2006) 1.07

Deficiency of the first mannosylation step in the N-glycosylation pathway causes congenital disorder of glycosylation type Ik. Hum Mol Genet (2004) 1.07

Gene and genetic diagnostic method patent claims: a comparison under current European and US patent law. Eur J Hum Genet (2011) 1.07

How Golgi glycosylation meets and needs trafficking: the case of the COG complex. Glycobiology (2010) 1.07

Mutations in the intellectual disability gene Ube2a cause neuronal dysfunction and impair parkin-dependent mitophagy. Mol Cell (2013) 1.06

CDKL5 influences RNA splicing activity by its association to the nuclear speckle molecular machinery. Hum Mol Genet (2009) 1.05