Mutations in GRIN2A and GRIN2B encoding regulatory subunits of NMDA receptors cause variable neurodevelopmental phenotypes.

PubWeight™: 3.82‹?› | Rank: Top 1%

🔗 View Article (PMID 20890276)

Published in Nat Genet on October 03, 2010

Authors

Sabine Endele1, Georg Rosenberger, Kirsten Geider, Bernt Popp, Ceyhun Tamer, Irina Stefanova, Mathieu Milh, Fanny Kortüm, Angela Fritsch, Friederike K Pientka, Yorck Hellenbroich, Vera M Kalscheuer, Jürgen Kohlhase, Ute Moog, Gudrun Rappold, Anita Rauch, Hans-Hilger Ropers, Sarah von Spiczak, Holger Tönnies, Nathalie Villeneuve, Laurent Villard, Bernhard Zabel, Martin Zenker, Bodo Laube, André Reis, Dagmar Wieczorek, Lionel Van Maldergem, Kerstin Kutsche

Author Affiliations

1: Institute of Human Genetics, University of Erlangen-Nuremberg, Erlangen, Germany.

Articles citing this

(truncated to the top 100)

Exome sequencing in sporadic autism spectrum disorders identifies severe de novo mutations. Nat Genet (2011) 11.94

Multiplex targeted sequencing identifies recurrently mutated genes in autism spectrum disorders. Science (2012) 6.21

NMDA receptor subunit diversity: impact on receptor properties, synaptic plasticity and disease. Nat Rev Neurosci (2013) 4.35

Genomics, intellectual disability, and autism. N Engl J Med (2012) 3.74

Targeted resequencing in epileptic encephalopathies identifies de novo mutations in CHD2 and SYNGAP1. Nat Genet (2013) 3.64

Sequencing chromosomal abnormalities reveals neurodevelopmental loci that confer risk across diagnostic boundaries. Cell (2012) 3.21

Refining analyses of copy number variation identifies specific genes associated with developmental delay. Nat Genet (2014) 3.21

Excess of de novo deleterious mutations in genes associated with glutamatergic systems in nonsyndromic intellectual disability. Am J Hum Genet (2011) 2.86

IgA NMDA receptor antibodies are markers of synaptic immunity in slow cognitive impairment. Neurology (2012) 2.78

Genome-wide gene-environment study identifies glutamate receptor gene GRIN2A as a Parkinson's disease modifier gene via interaction with coffee. PLoS Genet (2011) 2.28

A de novo convergence of autism genetics and molecular neuroscience. Trends Neurosci (2013) 2.24

Haploinsufficiency of ARID1B, a member of the SWI/SNF-a chromatin-remodeling complex, is a frequent cause of intellectual disability. Am J Hum Genet (2012) 2.12

GRIN2A mutations in acquired epileptic aphasia and related childhood focal epilepsies and encephalopathies with speech and language dysfunction. Nat Genet (2013) 1.91

GRIN2A mutations cause epilepsy-aphasia spectrum disorders. Nat Genet (2013) 1.85

A roadmap for precision medicine in the epilepsies. Lancet Neurol (2015) 1.75

De novo mutations in moderate or severe intellectual disability. PLoS Genet (2014) 1.64

Mutations in GRIN2A cause idiopathic focal epilepsy with rolandic spikes. Nat Genet (2013) 1.59

Mechanistic Insight into NMDA Receptor Dysregulation by Rare Variants in the GluN2A and GluN2B Agonist Binding Domains. Am J Hum Genet (2016) 1.54

Developmental brain dysfunction: revival and expansion of old concepts based on new genetic evidence. Lancet Neurol (2013) 1.48

MPX-004 and MPX-007: New Pharmacological Tools to Study the Physiology of NMDA Receptors Containing the GluN2A Subunit. PLoS One (2016) 1.45

Rare mutations in N-methyl-D-aspartate glutamate receptors in autism spectrum disorders and schizophrenia. Transl Psychiatry (2011) 1.40

Genetic and biologic classification of infantile spasms. Pediatr Neurol (2011) 1.40

GRIN2B mutations in West syndrome and intellectual disability with focal epilepsy. Ann Neurol (2014) 1.34

Functional analysis of a de novo GRIN2A missense mutation associated with early-onset epileptic encephalopathy. Nat Commun (2014) 1.29

GRIN2A mutation and early-onset epileptic encephalopathy: personalized therapy with memantine. Ann Clin Transl Neurol (2014) 1.29

Allosteric modulators for the treatment of schizophrenia: targeting glutamatergic networks. Curr Top Med Chem (2013) 1.28

Exome sequencing improves genetic diagnosis of structural fetal abnormalities revealed by ultrasound. Hum Mol Genet (2014) 1.28

Glycine transporters as novel therapeutic targets in schizophrenia, alcohol dependence and pain. Nat Rev Drug Discov (2013) 1.27

Clustered coding variants in the glutamate receptor complexes of individuals with schizophrenia and bipolar disorder. PLoS One (2011) 1.27

Evolution of GluN2A/B cytoplasmic domains diversified vertebrate synaptic plasticity and behavior. Nat Neurosci (2012) 1.25

GABAB-mediated rescue of altered excitatory-inhibitory balance, gamma synchrony and behavioral deficits following constitutive NMDAR-hypofunction. Transl Psychiatry (2012) 1.21

Ionotropic GABA and Glutamate Receptor Mutations and Human Neurologic Diseases. Mol Pharmacol (2015) 1.16

Excess of rare novel loss-of-function variants in synaptic genes in schizophrenia and autism spectrum disorders. Mol Psychiatry (2013) 1.15

Molecular pathways: dysregulated glutamatergic signaling pathways in cancer. Clin Cancer Res (2012) 1.10

The expanding role of MBD genes in autism: identification of a MECP2 duplication and novel alterations in MBD5, MBD6, and SETDB1. Autism Res (2012) 1.10

Increased NR2A:NR2B ratio compresses long-term depression range and constrains long-term memory. Sci Rep (2013) 1.08

Copy number variants and infantile spasms: evidence for abnormalities in ventral forebrain development and pathways of synaptic function. Eur J Hum Genet (2011) 1.08

Delineating the GRIN1 phenotypic spectrum: A distinct genetic NMDA receptor encephalopathy. Neurology (2016) 1.02

Distinct pharmacological and functional properties of NMDA receptors in mouse cortical astrocytes. Br J Pharmacol (2011) 1.01

De novo missense mutations in the NAA10 gene cause severe non-syndromic developmental delay in males and females. Eur J Hum Genet (2014) 0.99

Synaptic neurotransmitter-gated receptors. Cold Spring Harb Perspect Biol (2012) 0.98

Three rare diseases in one Sib pair: RAI1, PCK1, GRIN2B mutations associated with Smith-Magenis Syndrome, cytosolic PEPCK deficiency and NMDA receptor glutamate insensitivity. Mol Genet Metab (2014) 0.97

Glutamate signaling in benign and malignant disorders: current status, future perspectives, and therapeutic implications. Int J Biol Sci (2013) 0.96

Behavioral phenotype in five individuals with de novo mutations within the GRIN2B gene. Behav Brain Funct (2013) 0.96

Human GRIN2B variants in neurodevelopmental disorders. J Pharmacol Sci (2016) 0.95

RBFOX1 and RBFOX3 mutations in rolandic epilepsy. PLoS One (2013) 0.95

MIR137 variants identified in psychiatric patients affect synaptogenesis and neuronal transmission gene sets. Mol Psychiatry (2014) 0.94

Linking early-life NMDAR hypofunction and oxidative stress in schizophrenia pathogenesis. Nat Rev Neurosci (2016) 0.94

Exome sequencing unravels unexpected differential diagnoses in individuals with the tentative diagnosis of Coffin-Siris and Nicolaides-Baraitser syndromes. Hum Genet (2015) 0.94

A candidate gene association study further corroborates involvement of contactin genes in autism. Mol Syndromol (2014) 0.92

Population history and genomic signatures for high-altitude adaptation in Tibetan pigs. BMC Genomics (2014) 0.90

Mechanism of NMDA Receptor Inhibition and Activation. Cell (2016) 0.90

Structural determinants and mechanism of action of a GluN2C-selective NMDA receptor positive allosteric modulator. Mol Pharmacol (2014) 0.89

Caffeine interaction with glutamate receptor gene GRIN2A: Parkinson's disease in Swedish population. PLoS One (2014) 0.89

Two patients walk into a clinic...a genomics perspective on the future of schizophrenia. BMC Biol (2011) 0.88

Conserved higher-order chromatin regulates NMDA receptor gene expression and cognition. Neuron (2014) 0.88

Sixteen New Cases Contributing to the Characterization of Patients with Distal 22q11.2 Microduplications. Mol Syndromol (2011) 0.87

Synthesis and structure activity relationship of tetrahydroisoquinoline-based potentiators of GluN2C and GluN2D containing N-methyl-D-aspartate receptors. J Med Chem (2013) 0.86

GRIN2D Recurrent De Novo Dominant Mutation Causes a Severe Epileptic Encephalopathy Treatable with NMDA Receptor Channel Blockers. Am J Hum Genet (2016) 0.85

Massive expansion of SCA2 with autonomic dysfunction, retinitis pigmentosa, and infantile spasms. Neurology (2011) 0.85

Genetic forms of epilepsies and other paroxysmal disorders. Semin Neurol (2014) 0.84

Glutamate receptors and learning and memory. Nat Genet (2010) 0.84

Targeted sequencing identifies 91 neurodevelopmental-disorder risk genes with autism and developmental-disability biases. Nat Genet (2017) 0.84

Access of inhibitory neurosteroids to the NMDA receptor. Br J Pharmacol (2012) 0.83

Potential involvement of GRIN2B encoding the NMDA receptor subunit NR2B in the spectrum of Alzheimer's disease. J Neural Transm (Vienna) (2013) 0.83

GRIN2B predicts attention problems among disadvantaged children. Eur Child Adolesc Psychiatry (2014) 0.82

Beta-adrenergic receptor activation rescues theta frequency stimulation-induced LTP deficits in mice expressing C-terminally truncated NMDA receptor GluN2A subunits. Learn Mem (2011) 0.82

Novel genetic causes for cerebral visual impairment. Eur J Hum Genet (2015) 0.81

Imaging and genetics of language and cognition in pediatric epilepsy. Epilepsy Behav (2012) 0.81

Opposite roles of NMDA receptors in relapsing and primary progressive multiple sclerosis. PLoS One (2013) 0.81

Neonatal seizures alter NMDA glutamate receptor GluN2A and 3A subunit expression and function in hippocampal CA1 neurons. Front Cell Neurosci (2015) 0.80

Specific Roles of NMDA Receptor Subunits in Mental Disorders. Curr Mol Med (2015) 0.80

Genetic polymorphisms affecting susceptibility to mercury neurotoxicity in children: summary findings from the Casa Pia Children's Amalgam clinical trial. Neurotoxicology (2014) 0.80

Genetic insights into the functional elements of language. Hum Genet (2013) 0.80

Partial deletion of GLRB and GRIA2 in a patient with intellectual disability. Eur J Hum Genet (2012) 0.80

The nucleosome assembly protein TSPYL2 regulates the expression of NMDA receptor subunits GluN2A and GluN2B. Sci Rep (2014) 0.80

Somatic mutation of GRIN2A in malignant melanoma results in loss of tumor suppressor activity via aberrant NMDAR complex formation. J Invest Dermatol (2014) 0.80

A de novo loss-of-function GRIN2A mutation associated with childhood focal epilepsy and acquired epileptic aphasia. PLoS One (2017) 0.79

Dysfunction of NMDA receptors in Alzheimer's disease. Neurol Sci (2016) 0.78

Regional changes in gene expression after limbic kindling. Cell Mol Neurobiol (2011) 0.78

Glutamatergic candidate genes in autism spectrum disorder: an overview. J Neural Transm (Vienna) (2014) 0.78

Presynaptic NMDA receptors - dynamics and distribution in developing axons in vitro and in vivo. J Cell Sci (2014) 0.78

NR2B subunit in the prefrontal cortex: A double-edged sword for working memory function and psychiatric disorders. Neurosci Biobehav Rev (2015) 0.78

Association Study of N-Methyl-D-Aspartate Receptor Subunit 2B (GRIN2B) Polymorphisms and Schizophrenia Symptoms in the Han Chinese Population. PLoS One (2015) 0.77

A novel approach identifies the first transcriptome networks in bats: a new genetic model for vocal communication. BMC Genomics (2015) 0.77

Over-expression of either MECP2_e1 or MECP2_e2 in neuronally differentiated cells results in different patterns of gene expression. PLoS One (2014) 0.77

A targeted resequencing gene panel for focal epilepsy. Neurology (2016) 0.77

Seizures and Epilepsies due to Channelopathies and Neurotransmitter Receptor Dysfunction: A Parallel between Genetic and Immune Aspects. Mol Syndromol (2016) 0.76

Ion Channel Genes and Epilepsy: Functional Alteration, Pathogenic Potential, and Mechanism of Epilepsy. Neurosci Bull (2017) 0.76

Diversification of behavior and postsynaptic properties by netrin-G presynaptic adhesion family proteins. Mol Brain (2016) 0.76

On the Role of Glutamate in Presynaptic Development: Possible Contributions of Presynaptic NMDA Receptors. Biomolecules (2015) 0.76

Gene Panel Testing in Epileptic Encephalopathies and Familial Epilepsies. Mol Syndromol (2016) 0.76

Prioritizing the development of mouse models for childhood brain disorders. Neuropharmacology (2015) 0.76

Mutations in NMDA receptors influence neurodevelopmental disorders causing epilepsy and intellectual disability. Clin Genet (2011) 0.76

Whole exome sequencing of Rett syndrome-like patients reveals the mutational diversity of the clinical phenotype. Hum Genet (2016) 0.75

12p deletion spectrum syndrome: a new case report reinforces the evidence regarding the potential relationship to autism spectrum disorder and related developmental impairments. Mol Cytogenet (2016) 0.75

Functional Evaluation of a De Novo GRIN2A Mutation Identified in a Patient with Profound Global Developmental Delay and Refractory Epilepsy. Mol Pharmacol (2017) 0.75

A Recurrent De Novo Variant in NACC1 Causes a Syndrome Characterized by Infantile Epilepsy, Cataracts, and Profound Developmental Delay. Am J Hum Genet (2017) 0.75

Deletion of protein tyrosine phosphatase, non-receptor type 4 (PTPN4) in twins with a Rett syndrome-like phenotype. Eur J Hum Genet (2014) 0.75

A 12p13 GRIN2B deletion is associated with developmental delay and macrocephaly. Hum Genome Var (2016) 0.75

Articles cited by this

Human non-synonymous SNPs: server and survey. Nucleic Acids Res (2002) 50.45

Predicting the effects of coding non-synonymous variants on protein function using the SIFT algorithm. Nat Protoc (2009) 38.62

PANTHER: a library of protein families and subfamilies indexed by function. Genome Res (2003) 21.64

Improved splice site detection in Genie. J Comput Biol (1997) 11.57

Human Splicing Finder: an online bioinformatics tool to predict splicing signals. Nucleic Acids Res (2009) 10.08

SNAP: predict effect of non-synonymous polymorphisms on function. Nucleic Acids Res (2007) 8.46

Genetic enhancement of learning and memory in mice. Nature (1999) 8.06

Use of non-crystallographic symmetry in protein structure refinement. Acta Crystallogr D Biol Crystallogr (1996) 8.03

Splicing in disease: disruption of the splicing code and the decoding machinery. Nat Rev Genet (2007) 7.42

Modeller: generation and refinement of homology-based protein structure models. Methods Enzymol (2003) 7.15

NMDA receptor subunits: diversity, development and disease. Curr Opin Neurobiol (2001) 6.96

X-ray structure, symmetry and mechanism of an AMPA-subtype glutamate receptor. Nature (2009) 6.81

NMDA receptor trafficking in synaptic plasticity and neuropsychiatric disorders. Nat Rev Neurosci (2007) 6.26

Splice site prediction in Arabidopsis thaliana pre-mRNA by combining local and global sequence information. Nucleic Acids Res (1996) 6.13

Subunit arrangement and function in NMDA receptors. Nature (2005) 5.21

Role of distinct NMDA receptor subtypes at central synapses. Sci STKE (2004) 4.99

NIPBL, encoding a homolog of fungal Scc2-type sister chromatid cohesion proteins and fly Nipped-B, is mutated in Cornelia de Lange syndrome. Nat Genet (2004) 4.90

Comparative genomic hybridization using oligonucleotide microarrays and total genomic DNA. Proc Natl Acad Sci U S A (2004) 3.82

Cloning of the breakpoint of an X;21 translocation associated with Duchenne muscular dystrophy. Nature (1986) 3.62

Regulation of NMDA receptor subunit expression and its implications for LTD, LTP, and metaplasticity. Neuropharmacology (2008) 3.30

Glutamate receptors at atomic resolution. Nature (2006) 3.26

Haploinsufficiency of NSD1 causes Sotos syndrome. Nat Genet (2002) 2.96

Reduced hippocampal LTP and spatial learning in mice lacking NMDA receptor epsilon 1 subunit. Nature (1995) 2.91

Impairment of suckling response, trigeminal neuronal pattern formation, and hippocampal LTD in NMDA receptor epsilon 2 subunit mutant mice. Neuron (1996) 2.62

Molecular determinants of agonist discrimination by NMDA receptor subunits: analysis of the glutamate binding site on the NR2B subunit. Neuron (1997) 2.54

Mutations of CASK cause an X-linked brain malformation phenotype with microcephaly and hypoplasia of the brainstem and cerebellum. Nat Genet (2008) 2.16

CGHPRO -- a comprehensive data analysis tool for array CGH. BMC Bioinformatics (2005) 1.71

Adjacent asparagines in the NR2-subunit of the NMDA receptor channel control the voltage-dependent block by extracellular Mg2+. J Physiol (1998) 1.59

Increased thresholds for long-term potentiation and contextual learning in mice lacking the NMDA-type glutamate receptor epsilon1 subunit. J Neurosci (1998) 1.45

Oligonucleotide array-based comparative genomic hybridization (aCGH) of 90 neuroblastomas reveals aberration patterns closely associated with relapse pattern and outcome. Genes Chromosomes Cancer (2006) 1.38

Deletions in 16p13 including GRIN2A in patients with intellectual disability, various dysmorphic features, and seizure disorders of the rolandic region. Epilepsia (2010) 1.29

Genetic enhancement of memory and long-term potentiation but not CA1 long-term depression in NR2B transgenic rats. PLoS One (2009) 1.27

An intramembrane aromatic network determines pentameric assembly of Cys-loop receptors. Nat Struct Mol Biol (2009) 1.26

Formation of NR1/NR2 and NR1/NR3 heterodimers constitutes the initial step in N-methyl-D-aspartate receptor assembly. J Biol Chem (2007) 1.23

NMDA receptor GluN2B (GluR epsilon 2/NR2B) subunit is crucial for channel function, postsynaptic macromolecular organization, and actin cytoskeleton at hippocampal CA3 synapses. J Neurosci (2009) 1.20

Molecular determinants of ligand discrimination in the glutamate-binding pocket of the NMDA receptor. Neuropharmacology (2004) 1.03

Potentiation of Glycine-Gated NR1/NR3A NMDA Receptors Relieves Ca-Dependent Outward Rectification. Front Mol Neurosci (2010) 0.97

A possible association of responsiveness to adrenocorticotropic hormone with specific GRIN1 haplotypes in infantile spasms. Dev Med Child Neurol (2010) 0.89

Articles by these authors

A genome-wide association study identifies new psoriasis susceptibility loci and an interaction between HLA-C and ERAP1. Nat Genet (2010) 8.48

Range of genetic mutations associated with severe non-syndromic sporadic intellectual disability: an exome sequencing study. Lancet (2012) 8.42

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

Psoriasis is associated with increased beta-defensin genomic copy number. Nat Genet (2007) 8.07

15q13.3 microdeletions increase risk of idiopathic generalized epilepsy. Nat Genet (2009) 6.21

Comparative genome hybridization suggests a role for NRXN1 and APBA2 in schizophrenia. Hum Mol Genet (2007) 5.28

X-linked mental retardation and autism are associated with a mutation in the NLGN4 gene, a member of the neuroligin family. Am J Hum Genet (2004) 5.15

Disruption of neurexin 1 associated with autism spectrum disorder. Am J Hum Genet (2008) 5.04

Deep sequencing reveals 50 novel genes for recessive cognitive disorders. Nature (2011) 4.85

Germline KRAS mutations cause Noonan syndrome. Nat Genet (2006) 4.48

Human TUBB3 mutations perturb microtubule dynamics, kinesin interactions, and axon guidance. Cell (2010) 4.37

Nosology and classification of genetic skeletal disorders: 2010 revision. Am J Med Genet A (2011) 4.27

Mutations in the pericentrin (PCNT) gene cause primordial dwarfism. Science (2008) 4.04

Recurrent microdeletions at 15q11.2 and 16p13.11 predispose to idiopathic generalized epilepsies. Brain (2009) 3.96

Mutations in the SHANK2 synaptic scaffolding gene in autism spectrum disorder and mental retardation. Nat Genet (2010) 3.73

Germline KRAS and BRAF mutations in cardio-facio-cutaneous syndrome. Nat Genet (2006) 3.69

Deregulated expression of cytokine receptor gene, CRLF2, is involved in lymphoid transformation in B-cell precursor acute lymphoblastic leukemia. Blood (2009) 3.50

Nephrotic syndrome in the first year of life: two thirds of cases are caused by mutations in 4 genes (NPHS1, NPHS2, WT1, and LAMB2). Pediatrics (2007) 3.39

Genome-wide copy number variation in epilepsy: novel susceptibility loci in idiopathic generalized and focal epilepsies. PLoS Genet (2010) 3.39

Complex inheritance pattern resembling autosomal recessive inheritance involving a microdeletion in thrombocytopenia-absent radius syndrome. Am J Hum Genet (2006) 3.26

CEP152 is a genome maintenance protein disrupted in Seckel syndrome. Nat Genet (2010) 3.25

A comprehensive linkage analysis for myocardial infarction and its related risk factors. Nat Genet (2002) 3.19

Identification of genetic loci associated with Helicobacter pylori serologic status. JAMA (2013) 3.15

Transcription factor E2-2 is an essential and specific regulator of plasmacytoid dendritic cell development. Cell (2008) 3.12

Heterozygous submicroscopic inversions involving olfactory receptor-gene clusters mediate the recurrent t(4;8)(p16;p23) translocation. Am J Hum Genet (2002) 3.09

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

Mutations in STRA6 cause a broad spectrum of malformations including anophthalmia, congenital heart defects, diaphragmatic hernia, alveolar capillary dysplasia, lung hypoplasia, and mental retardation. Am J Hum Genet (2007) 2.74

Human laminin beta2 deficiency causes congenital nephrosis with mesangial sclerosis and distinct eye abnormalities. Hum Mol Genet (2004) 2.67

GJB2 mutations and degree of hearing loss: a multicenter study. Am J Hum Genet (2005) 2.63

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

Mutation of SHOC2 promotes aberrant protein N-myristoylation and causes Noonan-like syndrome with loose anagen hair. Nat Genet (2009) 2.57

Common variants at TRAF3IP2 are associated with susceptibility to psoriatic arthritis and psoriasis. Nat Genet (2010) 2.56

Mutations in genes encoding subunits of RNA polymerases I and III cause Treacher Collins syndrome. Nat Genet (2010) 2.52

Heterozygous missense mutations in BSCL2 are associated with distal hereditary motor neuropathy and Silver syndrome. Nat Genet (2004) 2.50

Expanding the phenotypic spectrum of lupus erythematosus in Aicardi-Goutières syndrome. Arthritis Rheum (2010) 2.50

Mutations in U4atac snRNA, a component of the minor spliceosome, in the developmental disorder MOPD I. Science (2011) 2.47

The beta subunit determines the ligand binding properties of synaptic glycine receptors. Neuron (2005) 2.42

CNTNAP2 and NRXN1 are mutated in autosomal-recessive Pitt-Hopkins-like mental retardation and determine the level of a common synaptic protein in Drosophila. Am J Hum Genet (2009) 2.41

Mutations in CHD7, encoding a chromatin-remodeling protein, cause idiopathic hypogonadotropic hypogonadism and Kallmann syndrome. Am J Hum Genet (2008) 2.33

Diagnostic yield of various genetic approaches in patients with unexplained developmental delay or mental retardation. Am J Med Genet A (2006) 2.31

GABRA1 and STXBP1: novel genetic causes of Dravet syndrome. Neurology (2014) 2.30

Mutations in autism susceptibility candidate 2 (AUTS2) in patients with mental retardation. Hum Genet (2007) 2.22

Haploinsufficiency of TCF4 causes syndromal mental retardation with intermittent hyperventilation (Pitt-Hopkins syndrome). Am J Hum Genet (2007) 2.22

COQ6 mutations in human patients produce nephrotic syndrome with sensorineural deafness. J Clin Invest (2011) 2.21

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

Mutations of CASK cause an X-linked brain malformation phenotype with microcephaly and hypoplasia of the brainstem and cerebellum. Nat Genet (2008) 2.16

Genetic deficiency of tartrate-resistant acid phosphatase associated with skeletal dysplasia, cerebral calcifications and autoimmunity. Nat Genet (2011) 2.16

Haploinsufficiency of ARID1B, a member of the SWI/SNF-a chromatin-remodeling complex, is a frequent cause of intellectual disability. Am J Hum Genet (2012) 2.12

De novo nonsense mutations in ASXL1 cause Bohring-Opitz syndrome. Nat Genet (2011) 2.09

Choreoathetosis, hypothyroidism, and pulmonary alterations due to human NKX2-1 haploinsufficiency. J Clin Invest (2002) 2.09

Homozygosity for a missense mutation in fibulin-5 (FBLN5) results in a severe form of cutis laxa. Hum Mol Genet (2002) 2.07

Deficiency of UBR1, a ubiquitin ligase of the N-end rule pathway, causes pancreatic dysfunction, malformations and mental retardation (Johanson-Blizzard syndrome). Nat Genet (2005) 2.04

Disruption of the serine/threonine kinase 9 gene causes severe X-linked infantile spasms and mental retardation. Am J Hum Genet (2003) 2.03

TRPM5 is a transient Ca2+-activated cation channel responding to rapid changes in [Ca2+]i. Proc Natl Acad Sci U S A (2003) 2.01

Mutations in the gene encoding the lamin B receptor produce an altered nuclear morphology in granulocytes (Pelger-Huët anomaly). Nat Genet (2002) 1.99

First evidence for an association of a functional variant in the microRNA-510 target site of the serotonin receptor-type 3E gene with diarrhea predominant irritable bowel syndrome. Hum Mol Genet (2008) 1.98

Deletion of the mouse glycine transporter 2 results in a hyperekplexia phenotype and postnatal lethality. Neuron (2003) 1.97

Diagnostic approach to microcephaly in childhood: a two-center study and review of the literature. Dev Med Child Neurol (2014) 1.95

Epilepsy and mental retardation limited to females: an under-recognized disorder. Brain (2008) 1.94

Contribution of global rare copy-number variants to the risk of sporadic congenital heart disease. Am J Hum Genet (2012) 1.92

"Mowat-Wilson" syndrome with and without Hirschsprung disease is a distinct, recognizable multiple congenital anomalies-mental retardation syndrome caused by mutations in the zinc finger homeo box 1B gene. Am J Med Genet (2002) 1.91

Hyperekplexia phenotype of glycine receptor alpha1 subunit mutant mice identifies Zn(2+) as an essential endogenous modulator of glycinergic neurotransmission. Neuron (2006) 1.91

Mutations in PYCR1 cause cutis laxa with progeroid features. Nat Genet (2009) 1.89

Molecular analysis expands the spectrum of phenotypes associated with GLI3 mutations. Hum Mutat (2010) 1.88

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

Cranioectodermal Dysplasia, Sensenbrenner syndrome, is a ciliopathy caused by mutations in the IFT122 gene. Am J Hum Genet (2010) 1.86

Alu-Alu recombination underlies the vast majority of large VHL germline deletions: Molecular characterization and genotype-phenotype correlations in VHL patients. Hum Mutat (2009) 1.85

Meta-analysis confirms the LCE3C_LCE3B deletion as a risk factor for psoriasis in several ethnic groups and finds interaction with HLA-Cw6. J Invest Dermatol (2010) 1.82

Noonan syndrome and clinically related disorders. Best Pract Res Clin Endocrinol Metab (2011) 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

Characterization of a 5.3 Mb deletion in 15q14 by comparative genomic hybridization using a whole genome "tiling path" BAC array in a girl with heart defect, cleft palate, and developmental delay. Am J Med Genet A (2007) 1.80

Expansion of the genotypic and phenotypic spectrum in patients with KRAS germline mutations. J Med Genet (2006) 1.79

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

RAD21 mutations cause a human cohesinopathy. Am J Hum Genet (2012) 1.72

Targeted mutation reveals essential functions of the homeodomain transcription factor Shox2 in sinoatrial and pacemaking development. Circulation (2007) 1.72

Heterozygous NTF4 mutations impairing neurotrophin-4 signaling in patients with primary open-angle glaucoma. Am J Hum Genet (2009) 1.71

A restricted spectrum of NRAS mutations causes Noonan syndrome. Nat Genet (2009) 1.71

Association of LOXL1 common sequence variants in German and Italian patients with pseudoexfoliation syndrome and pseudoexfoliation glaucoma. Invest Ophthalmol Vis Sci (2008) 1.71

Heterozygous missense mutations in SMARCA2 cause Nicolaides-Baraitser syndrome. Nat Genet (2012) 1.70

Truncation of the Down syndrome candidate gene DYRK1A in two unrelated patients with microcephaly. Am J Hum Genet (2008) 1.70