Published in Am J Med Genet A on November 15, 2003
Mammalian sex determination—insights from humans and mice. Chromosome Res (2012) 1.14
New technologies for the identification of novel genetic markers of disorders of sex development (DSD). Sex Dev (2010) 0.89
XX male with sex reversal and a de novo 11;22 translocation. Am J Med Genet A (2006) 0.78
22q11.2q13 duplication including SOX10 causes sex-reversal and peripheral demyelinating neuropathy, central dysmyelinating leukodystrophy, Waardenburg syndrome, and Hirschsprung disease. Am J Med Genet A (2017) 0.75
Genome-wide association study identifies variants at CLU and CR1 associated with Alzheimer's disease. Nat Genet (2009) 14.86
Genome-wide analysis of genetic loci associated with Alzheimer disease. JAMA (2010) 9.52
Common variants at ABCA7, MS4A6A/MS4A4E, EPHA1, CD33 and CD2AP are associated with Alzheimer's disease. Nat Genet (2011) 9.23
APP locus duplication causes autosomal dominant early-onset Alzheimer disease with cerebral amyloid angiopathy. Nat Genet (2005) 7.66
Genome-wide association analysis identifies 13 new risk loci for schizophrenia. Nat Genet (2013) 7.44
Phenotypically concordant and discordant monozygotic twins display different DNA copy-number-variation profiles. Am J Hum Genet (2008) 5.53
Support for the involvement of large copy number variants in the pathogenesis of schizophrenia. Hum Mol Genet (2009) 4.52
LARGE can functionally bypass alpha-dystroglycan glycosylation defects in distinct congenital muscular dystrophies. Nat Med (2004) 3.00
Recurrent rearrangements in synaptic and neurodevelopmental genes and shared biologic pathways in schizophrenia, autism, and mental retardation. Arch Gen Psychiatry (2009) 2.82
Mutations in the gene encoding PDGF-B cause brain calcifications in humans and mice. Nat Genet (2013) 2.62
Rare deletions at 16p13.11 predispose to a diverse spectrum of sporadic epilepsy syndromes. Am J Hum Genet (2010) 2.61
Mirror extreme BMI phenotypes associated with gene dosage at the chromosome 16p11.2 locus. Nature (2011) 2.59
A polymorphism in CALHM1 influences Ca2+ homeostasis, Abeta levels, and Alzheimer's disease risk. Cell (2008) 2.55
Molecular recognition by LARGE is essential for expression of functional dystroglycan. Cell (2004) 2.33
TARDBP mutations in motoneuron disease with frontotemporal lobar degeneration. Ann Neurol (2009) 2.30
Somatic mosaicism for copy number variation in differentiated human tissues. Hum Mutat (2008) 2.30
Age-related somatic structural changes in the nuclear genome of human blood cells. Am J Hum Genet (2012) 2.15
Mutation of the PDGFRB gene as a cause of idiopathic basal ganglia calcification. Neurology (2012) 2.05
Phenotypic spectrum of probable and genetically-confirmed idiopathic basal ganglia calcification. Brain (2013) 2.02
Phenotype variability in progranulin mutation carriers: a clinical, neuropsychological, imaging and genetic study. Brain (2008) 1.84
Phenotype associated with APP duplication in five families. Brain (2006) 1.83
Exon array CGH: detection of copy-number changes at the resolution of individual exons in the human genome. Am J Hum Genet (2005) 1.78
MicroRNA-184 inhibits neuroblastoma cell survival through targeting the serine/threonine kinase AKT2. Mol Cancer (2010) 1.72
Progranulin null mutations in both sporadic and familial frontotemporal dementia. Hum Mutat (2007) 1.69
A full-coverage, high-resolution human chromosome 22 genomic microarray for clinical and research applications. Hum Mol Genet (2002) 1.69
Implication of the immune system in Alzheimer's disease: evidence from genome-wide pathway analysis. J Alzheimers Dis (2010) 1.65
TREM2 R47H variant as a risk factor for early-onset Alzheimer's disease. J Alzheimers Dis (2013) 1.57
Genomic microarrays in the spotlight. Trends Genet (2004) 1.55
Widespread dysregulation of MiRNAs by MYCN amplification and chromosomal imbalances in neuroblastoma: association of miRNA expression with survival. PLoS One (2009) 1.55
Rett syndrome: North American database. J Child Neurol (2007) 1.54
Involvement of hyperprolinemia in cognitive and psychiatric features of the 22q11 deletion syndrome. Hum Mol Genet (2006) 1.50
miR-199a-5p silencing regulates the unfolded protein response in chronic obstructive pulmonary disease and α1-antitrypsin deficiency. Am J Respir Crit Care Med (2014) 1.46
Profiling of copy number variations (CNVs) in healthy individuals from three ethnic groups using a human genome 32 K BAC-clone-based array. Hum Mutat (2008) 1.45
PRODH mutations and hyperprolinemia in a subset of schizophrenic patients. Hum Mol Genet (2002) 1.36
High-resolution DNA copy number profiling of malignant peripheral nerve sheath tumors using targeted microarray-based comparative genomic hybridization. Clin Cancer Res (2008) 1.34
MicroRNA-34a is a potent tumor suppressor molecule in vivo in neuroblastoma. BMC Cancer (2011) 1.25
Mutations other than null mutations producing a pathogenic loss of progranulin in frontotemporal dementia. Hum Mutat (2007) 1.20
The CALHM1 P86L polymorphism is a genetic modifier of age at onset in Alzheimer's disease: a meta-analysis study. J Alzheimers Dis (2010) 1.19
ABCA2 is a strong genetic risk factor for early-onset Alzheimer's disease. Neurobiol Dis (2005) 1.16
Global MYCN transcription factor binding analysis in neuroblastoma reveals association with distinct E-box motifs and regions of DNA hypermethylation. PLoS One (2009) 1.15
Differential DNA methylation patterns define status epilepticus and epileptic tolerance. J Neurosci (2012) 1.12
Cytoskeleton proteins are modulators of mutant tau-induced neurodegeneration in Drosophila. Hum Mol Genet (2007) 1.12
Therapeutic targeting of miRNAs in neuroblastoma. Expert Opin Ther Targets (2010) 1.11
Update and Mutational Analysis of SLC20A2: A Major Cause of Primary Familial Brain Calcification. Hum Mutat (2015) 1.11
Both cytoplasmic and nuclear accumulations of the protein are neurotoxic in Drosophila models of TDP-43 proteinopathies. Neurobiol Dis (2010) 1.10
PDGFB partial deletion: a new, rare mechanism causing brain calcification with leukoencephalopathy. J Mol Neurosci (2014) 1.10
No replication of genetic association between candidate polymorphisms and Alzheimer's disease. Neurobiol Aging (2009) 1.10
Chromosome 22 array-CGH profiling of breast cancer delimited minimal common regions of genomic imbalances and revealed frequent intra-tumoral genetic heterogeneity. Int J Oncol (2006) 1.09
A segmental maximum a posteriori approach to genome-wide copy number profiling. Bioinformatics (2008) 1.09
MicroRNA mediates DNA demethylation events triggered by retinoic acid during neuroblastoma cell differentiation. Cancer Res (2010) 1.09
Unusual cerebrotendinous xanthomatosis with fronto-temporal dementia phenotype. Am J Med Genet A (2005) 1.07
DNA copy-number analysis of the 22q11 deletion-syndrome region using array-CGH with genomic and PCR-based targets. Int J Mol Med (2004) 1.07
The mechanism of cystic fibrosis transmembrane conductance regulator transcriptional repression during the unfolded protein response. J Biol Chem (2008) 1.06
SQSTM1 mutations in French patients with frontotemporal dementia or frontotemporal dementia with amyotrophic lateral sclerosis. JAMA Neurol (2013) 1.05
Development of NF2 gene specific, strictly sequence defined diagnostic microarray for deletion detection. J Mol Med (Berl) (2003) 1.05
Microarray-based survey of CpG islands identifies concurrent hyper- and hypomethylation patterns in tissues derived from patients with breast cancer. Genes Chromosomes Cancer (2006) 1.05
Genome-wide association study of multiplex schizophrenia pedigrees. Am J Psychiatry (2012) 1.05
The French series of autosomal dominant early onset Alzheimer's disease cases: mutation spectrum and cerebrospinal fluid biomarkers. J Alzheimers Dis (2012) 1.03
Systematic analysis of candidate genes for Alzheimer's disease in a French, genome-wide association study. J Alzheimers Dis (2010) 1.03
Association study of the GAB2 gene with the risk of developing Alzheimer's disease. Neurobiol Dis (2008) 1.03
Common pathogenetic mechanism involving human chromosome 18 in familial and sporadic ileal carcinoid tumors. Genes Chromosomes Cancer (2011) 1.03
A previously unrecognized microdeletion syndrome on chromosome 22 band q11.2 encompassing the BCR gene. Am J Med Genet A (2007) 1.02
Characterization of novel and complex genomic aberrations in glioblastoma using a 32K BAC array. Neuro Oncol (2009) 1.02
Polymorphisms of insulin degrading enzyme gene are not associated with Alzheimer's disease. Neurosci Lett (2002) 1.00
Focal amplifications are associated with high grade and recurrences in stage Ta bladder carcinoma. Int J Cancer (2010) 0.99
Analysis of copy number variation in the normal human population within a region containing complex segmental duplications on 22q11 using high-resolution array-CGH. Genomics (2006) 0.98
Deletion of the progranulin gene in patients with frontotemporal lobar degeneration or Parkinson disease. Neurobiol Dis (2008) 0.98
Biological effects of four PSEN1 gene mutations causing Alzheimer disease with spastic paraparesis and cotton wool plaques. Hum Mutat (2006) 0.97
The transcriptional map of the common eliminated region 1 (C3CER1) in 3p21.3. Eur J Hum Genet (2002) 0.96
Somatic mosaicism for chromosome X and Y aneuploidies in monozygotic twins heterozygous for sickle cell disease mutation. Am J Med Genet A (2010) 0.95
Tau is not normally degraded by the proteasome. J Neurosci Res (2005) 0.94
Accumulation of insoluble forms of FUS protein correlates with toxicity in Drosophila. Neurobiol Aging (2011) 0.94
Association between the extended tau haplotype and frontotemporal dementia. Arch Neurol (2002) 0.94
Integrative epigenomic and genomic analysis of malignant pheochromocytoma. Exp Mol Med (2010) 0.93
Drosophila models of human tauopathies indicate that Tau protein toxicity in vivo is mediated by soluble cytosolic phosphorylated forms of the protein. J Neurochem (2010) 0.93
Comprehensive genetic and epigenetic analysis of sporadic meningioma for macro-mutations on 22q and micro-mutations within the NF2 locus. BMC Genomics (2007) 0.93
Identification of a novel recurrent 1q42.2-1qter deletion in high risk MYCN single copy 11q deleted neuroblastomas. Int J Cancer (2011) 0.92
EVA: Exome Variation Analyzer, an efficient and versatile tool for filtering strategies in medical genomics. BMC Bioinformatics (2012) 0.92
A genome-wide study reveals rare CNVs exclusive to extreme phenotypes of Alzheimer disease. Eur J Hum Genet (2011) 0.92
A concordance study of three electrophysiological measures in schizophrenia. Am J Psychiatry (2005) 0.92
Identification of genetic aberrations on chromosome 22 outside the NF2 locus in schwannomatosis and neurofibromatosis type 2. Hum Mutat (2005) 0.92
Frequent genetic differences between matched primary and metastatic breast cancer provide an approach to identification of biomarkers for disease progression. Eur J Hum Genet (2010) 0.92
High-resolution gene copy number and expression profiling of human chromosome 22 in ovarian carcinomas. Genes Chromosomes Cancer (2005) 0.91
Comprehensive DNA copy number profiling of meningioma using a chromosome 1 tiling path microarray identifies novel candidate tumor suppressor loci. Cancer Res (2005) 0.91
Dissection of the oncogenic MYCN transcriptional network reveals a large set of clinically relevant cell cycle genes as drivers of neuroblastoma tumorigenesis. Mol Carcinog (2010) 0.91
Amyloid precursor protein controls cholesterol turnover needed for neuronal activity. EMBO Mol Med (2013) 0.91
Overall mutational spectrum of SLC20A2, PDGFB and PDGFRB in idiopathic basal ganglia calcification. Neurogenetics (2014) 0.91
Apolipoprotein E gene in frontotemporal dementia: an association study and meta-analysis. Eur J Hum Genet (2002) 0.90
Chromosome 22 tiling-path array-CGH analysis identifies germ-line- and tumor-specific aberrations in patients with glioblastoma multiforme. Genes Chromosomes Cancer (2005) 0.89