Published in J Med Genet on May 01, 2010
Phenotypic heterogeneity of genomic disorders and rare copy-number variants. N Engl J Med (2012) 4.36
An evidence-based approach to establish the functional and clinical significance of copy number variants in intellectual and developmental disabilities. Genet Med (2011) 3.51
Phenotypic variability and genetic susceptibility to genomic disorders. Hum Mol Genet (2010) 2.57
A discovery resource of rare copy number variations in individuals with autism spectrum disorder. G3 (Bethesda) (2012) 1.30
Clinical, genetic and imaging findings identify new causes for corpus callosum development syndromes. Brain (2014) 1.26
The contribution of de novo and rare inherited copy number changes to congenital heart disease in an unselected sample of children with conotruncal defects or hypoplastic left heart disease. Hum Genet (2013) 1.15
Role of cytoskeletal abnormalities in the neuropathology and pathophysiology of type I lissencephaly. Acta Neuropathol (2010) 1.11
Chromosomal microarray analysis of consecutive individuals with autism spectrum disorders or learning disability presenting for genetic services. Gene (2013) 1.09
Diverse mutational mechanisms cause pathogenic subtelomeric rearrangements. Hum Mol Genet (2011) 1.05
14-3-3 proteins in neurological disorders. Int J Biochem Mol Biol (2012) 1.05
17p13.3 microduplications are associated with split-hand/foot malformation and long-bone deficiency (SHFLD). Eur J Hum Genet (2011) 0.99
Exome sequencing in multiplex autism families suggests a major role for heterozygous truncating mutations. Mol Psychiatry (2013) 0.98
The duplication 17p13.3 phenotype: analysis of 21 families delineates developmental, behavioral and brain abnormalities, and rare variant phenotypes. Am J Med Genet A (2013) 0.97
Alu-mediated diverse and complex pathogenic copy-number variants within human chromosome 17 at p13.3. Hum Mol Genet (2015) 0.95
Increased RPA1 gene dosage affects genomic stability potentially contributing to 17p13.3 duplication syndrome. PLoS Genet (2011) 0.89
Identification of a rare 17p13.3 duplication including the BHLHA9 and YWHAE genes in a family with developmental delay and behavioural problems. BMC Med Genet (2012) 0.88
LIS1 and DCX: Implications for Brain Development and Human Disease in Relation to Microtubules. Scientifica (Cairo) (2013) 0.85
Copy number variation in Han Chinese individuals with autism spectrum disorder. J Neurodev Disord (2014) 0.82
14-3-3s are potential biomarkers for HIV-related neurodegeneration. J Neurovirol (2012) 0.78
Gene networks underlying convergent and pleiotropic phenotypes in a large and systematically-phenotyped cohort with heterogeneous developmental disorders. PLoS Genet (2015) 0.78
Duplication of the Miller-Dieker Critical Region in a Patient with a Subtelomeric Unbalanced Translocation t(10;17)(p15.3;p13.3). Mol Syndromol (2012) 0.77
Familial 6p22.2 duplication associates with mild developmental delay and increased SSADH activity. Am J Med Genet B Neuropsychiatr Genet (2011) 0.76
17p13.3 Microdeletion: Insights on Genotype-Phenotype Correlation. Mol Syndromol (2016) 0.75
17p13.3 microduplication including CRK leads to overgrowth and elevated growth factors: A case report. Eur J Med Genet (2016) 0.75
Proteome dynamics during postnatal mouse corpus callosum development. Sci Rep (2017) 0.75
A cryptic balanced translocation (5;17), a puzzle revealed through a critical evaluation of the pedigree and a FISH focused on candidate loci suggested by the phenotype. Mol Cytogenet (2015) 0.75
Primary Cilia as a Possible Link between Left-Right Asymmetry and Neurodevelopmental Diseases. Genes (Basel) (2017) 0.75
Prenatal diagnosis of 17p13.1p13.3 duplication. Case Rep Med (2012) 0.75
A Case of Concurrent Miller-Dieker Syndrome (17p13.3 Deletion) and 22q11.2 Deletion Syndrome. J Pediatr Genet (2015) 0.75
Bergmann Glia, Long-Term Depression, and Autism Spectrum Disorder. Mol Neurobiol (2016) 0.75
Consensus statement: chromosomal microarray is a first-tier clinical diagnostic test for individuals with developmental disabilities or congenital anomalies. Am J Hum Genet (2010) 13.70
Recurrent rearrangements of chromosome 1q21.1 and variable pediatric phenotypes. N Engl J Med (2008) 10.88
Diagnostic exome sequencing in persons with severe intellectual disability. N Engl J Med (2012) 10.80
Multiple recurrent de novo CNVs, including duplications of the 7q11.23 Williams syndrome region, are strongly associated with autism. Neuron (2011) 10.61
The Collaborative Cross, a community resource for the genetic analysis of complex traits. Nat Genet (2004) 9.37
Diagnostic genome profiling in mental retardation. Am J Hum Genet (2005) 8.60
A de novo paradigm for mental retardation. Nat Genet (2010) 8.57
CSF biomarkers and incipient Alzheimer disease in patients with mild cognitive impairment. JAMA (2009) 7.29
National Institute of Neurological Disorders and Stroke-Canadian Stroke Network vascular cognitive impairment harmonization standards. Stroke (2006) 6.94
Mutations in a new member of the chromodomain gene family cause CHARGE syndrome. Nat Genet (2004) 6.90
A new chromosome 17q21.31 microdeletion syndrome associated with a common inversion polymorphism. Nat Genet (2006) 5.92
Physician and pharmacist collaboration to improve blood pressure control. Arch Intern Med (2009) 5.75
De novo mutations of SETBP1 cause Schinzel-Giedion syndrome. Nat Genet (2010) 5.72
The Human Phenotype Ontology project: linking molecular biology and disease through phenotype data. Nucleic Acids Res (2013) 5.66
Array-based comparative genomic hybridization for the genomewide detection of submicroscopic chromosomal abnormalities. Am J Hum Genet (2003) 5.43
Chromosomal microarray versus karyotyping for prenatal diagnosis. N Engl J Med (2012) 4.97
Breast-cancer risk in families with mutations in PALB2. N Engl J Med (2014) 4.97
ClinGen--the Clinical Genome Resource. N Engl J Med (2015) 4.45
Simultaneous measurement of beta-amyloid(1-42), total tau, and phosphorylated tau (Thr181) in cerebrospinal fluid by the xMAP technology. Clin Chem (2004) 4.23
The potency of team-based care interventions for hypertension: a meta-analysis. Arch Intern Med (2009) 4.10
Characterization of a recurrent 15q24 microdeletion syndrome. Hum Mol Genet (2007) 3.54
Subcortical ischaemic vascular dementia. Lancet Neurol (2002) 3.32
Mutations in PTF1A cause pancreatic and cerebellar agenesis. Nat Genet (2004) 3.09
Mutations in the beta-tubulin gene TUBB2B result in asymmetrical polymicrogyria. Nat Genet (2009) 3.01
Assessment of 2q23.1 microdeletion syndrome implicates MBD5 as a single causal locus of intellectual disability, epilepsy, and autism spectrum disorder. Am J Hum Genet (2011) 2.85
Clinical and molecular phenotype of Aicardi-Goutieres syndrome. Am J Hum Genet (2007) 2.81
Amyloid beta protein dimer-containing human CSF disrupts synaptic plasticity: prevention by systemic passive immunization. J Neurosci (2008) 2.77
Deletion 17q12 is a recurrent copy number variant that confers high risk of autism and schizophrenia. Am J Hum Genet (2010) 2.70
Common genetic variants, acting additively, are a major source of risk for autism. Mol Autism (2012) 2.67
Mirror extreme BMI phenotypes associated with gene dosage at the chromosome 16p11.2 locus. Nature (2011) 2.59
Evaluation of plasma Abeta(40) and Abeta(42) as predictors of conversion to Alzheimer's disease in patients with mild cognitive impairment. Neurobiol Aging (2008) 2.51
Loss-of-function mutations in TGFB2 cause a syndromic presentation of thoracic aortic aneurysm. Nat Genet (2012) 2.44
Genome-wide association study in BRCA1 mutation carriers identifies novel loci associated with breast and ovarian cancer risk. PLoS Genet (2013) 2.39
3q29 microdeletion syndrome: clinical and molecular characterization of a new syndrome. Am J Hum Genet (2005) 2.38
Loss-of-function mutations in euchromatin histone methyl transferase 1 (EHMT1) cause the 9q34 subtelomeric deletion syndrome. Am J Hum Genet (2006) 2.31
14-3-3epsilon is important for neuronal migration by binding to NUDEL: a molecular explanation for Miller-Dieker syndrome. Nat Genet (2003) 2.27
Clinical significance of de novo and inherited copy-number variation. Hum Mutat (2013) 2.08
Do white matter hyperintensities on MRI matter clinically? BMJ (2010) 2.07
Mutations of the catalytic subunit of RAB3GAP cause Warburg Micro syndrome. Nat Genet (2005) 1.98
Ciliopathies with skeletal anomalies and renal insufficiency due to mutations in the IFT-A gene WDR19. Am J Hum Genet (2011) 1.98
An international effort towards developing standards for best practices in analysis, interpretation and reporting of clinical genome sequencing results in the CLARITY Challenge. Genome Biol (2014) 1.95
Impact of age-related cerebral white matter changes on the transition to disability -- the LADIS study: rationale, design and methodology. Neuroepidemiology (2005) 1.92
Mutations in ISPD cause Walker-Warburg syndrome and defective glycosylation of α-dystroglycan. Nat Genet (2012) 1.90
Confounding factors influencing amyloid Beta concentration in cerebrospinal fluid. Int J Alzheimers Dis (2010) 1.86
Targeted next-generation sequencing appoints c16orf57 as clericuzio-type poikiloderma with neutropenia gene. Am J Hum Genet (2009) 1.85
Rare pathogenic microdeletions and tandem duplications are microhomology-mediated and stimulated by local genomic architecture. Hum Mol Genet (2009) 1.84
Exome sequencing identifies rare deleterious mutations in DNA repair genes FANCC and BLM as potential breast cancer susceptibility alleles. PLoS Genet (2012) 1.84
Chromosome 1p21.3 microdeletions comprising DPYD and MIR137 are associated with intellectual disability. J Med Genet (2011) 1.81
A role for common genomic variants in the assessment of familial breast cancer. J Clin Oncol (2012) 1.80
High expression levels of keratinocyte antimicrobial proteins in psoriasis compared with atopic dermatitis. J Invest Dermatol (2005) 1.78
Accurate distinction of pathogenic from benign CNVs in mental retardation. PLoS Comput Biol (2010) 1.75
Chemokine induction by all-trans retinoic acid and arsenic trioxide in acute promyelocytic leukemia: triggering the differentiation syndrome. Blood (2009) 1.74
Genomic microarrays in mental retardation: a practical workflow for diagnostic applications. Hum Mutat (2009) 1.71
Heterozygous missense mutations in SMARCA2 cause Nicolaides-Baraitser syndrome. Nat Genet (2012) 1.70
De novo mutations in the actin genes ACTB and ACTG1 cause Baraitser-Winter syndrome. Nat Genet (2012) 1.70
Measuring adherence to practice guidelines for the management of hypertension: an evaluation of the literature. Hypertension (2004) 1.70
Decreased expression of the GABAA receptor in fragile X syndrome. Brain Res (2006) 1.70
Rhombencephalosynapsis: a hindbrain malformation associated with incomplete separation of midbrain and forebrain, hydrocephalus and a broad spectrum of severity. Brain (2012) 1.69
Mutations in TITF-1 are associated with benign hereditary chorea. Hum Mol Genet (2002) 1.69
De novo copy number variants associated with intellectual disability have a paternal origin and age bias. J Med Genet (2011) 1.69
Mutation frequencies of X-linked mental retardation genes in families from the EuroMRX consortium. Hum Mutat (2007) 1.68
Human and mouse mutations in WDR35 cause short-rib polydactyly syndromes due to abnormal ciliogenesis. Am J Hum Genet (2011) 1.66
Gain of glycosylation in integrin α3 causes lung disease and nephrotic syndrome. J Clin Invest (2012) 1.66
A 600 kb deletion syndrome at 16p11.2 leads to energy imbalance and neuropsychiatric disorders. J Med Genet (2012) 1.63
Genomic microarrays in mental retardation: from copy number variation to gene, from research to diagnosis. J Med Genet (2009) 1.62
Germline mutations in DIS3L2 cause the Perlman syndrome of overgrowth and Wilms tumor susceptibility. Nat Genet (2012) 1.61
Prediction and longitudinal study of CSF biomarkers in mild cognitive impairment. Neurobiol Aging (2007) 1.61
Nine patients with a microdeletion 15q11.2 between breakpoints 1 and 2 of the Prader-Willi critical region, possibly associated with behavioural disturbances. Eur J Med Genet (2009) 1.60
Cerebrospinal fluid alpha-synuclein in neurodegenerative disorders-a marker of synapse loss? Neurosci Lett (2008) 1.60
Molecular mechanisms generating and stabilizing terminal 22q13 deletions in 44 subjects with Phelan/McDermid syndrome. PLoS Genet (2011) 1.60
Fourteen new cases contribute to the characterization of the 7q11.23 microduplication syndrome. Eur J Med Genet (2009) 1.58
Relationship between progression of brain white matter changes and late-life depression: 3-year results from the LADIS study. Br J Psychiatry (2012) 1.57
Mutations in PHF6 are associated with Börjeson-Forssman-Lehmann syndrome. Nat Genet (2002) 1.57
Guidelines for molecular karyotyping in constitutional genetic diagnosis. Eur J Hum Genet (2007) 1.56
Cryptic subtelomeric 6p deletion in a girl with congenital malformations and severe language impairment. Eur J Hum Genet (2003) 1.56
Increased intrathecal levels of the angiogenic factors VEGF and TGF-beta in Alzheimer's disease and vascular dementia. Neurobiol Aging (2002) 1.56
Cancer risks for MLH1 and MSH2 mutation carriers. Hum Mutat (2013) 1.55
Mutations in the TGFβ binding-protein-like domain 5 of FBN1 are responsible for acromicric and geleophysic dysplasias. Am J Hum Genet (2011) 1.55
Diffusion changes predict cognitive and functional outcome: the LADIS study. Ann Neurol (2013) 1.54
Intra-individual stability of CSF biomarkers for Alzheimer's disease over two years. J Alzheimers Dis (2007) 1.54
The GABAA receptor: a novel target for treatment of fragile X? Trends Neurosci (2007) 1.54
Reduced purifying selection prevails over positive selection in human copy number variant evolution. Genome Res (2008) 1.54