Published in J Med Genet on November 12, 2009
Genetic architectures of psychiatric disorders: the emerging picture and its implications. Nat Rev Genet (2012) 5.99
CNVs: harbingers of a rare variant revolution in psychiatric genetics. Cell (2012) 4.81
Clan genomics and the complex architecture of human disease. Cell (2011) 4.53
Copy number variants in schizophrenia: confirmation of five previous findings and new evidence for 3q29 microdeletions and VIPR2 duplications. Am J Psychiatry (2011) 4.29
Genomics, intellectual disability, and autism. N Engl J Med (2012) 3.74
Using whole-exome sequencing to identify inherited causes of autism. Neuron (2013) 2.74
Genetics of autism spectrum disorders. Trends Cogn Sci (2011) 2.61
Mirror extreme BMI phenotypes associated with gene dosage at the chromosome 16p11.2 locus. Nature (2011) 2.59
Phenotypic variability and genetic susceptibility to genomic disorders. Hum Mol Genet (2010) 2.57
KCTD13 is a major driver of mirrored neuroanatomical phenotypes of the 16p11.2 copy number variant. Nature (2012) 2.47
A nondegenerate code of deleterious variants in Mendelian loci contributes to complex disease risk. Cell (2013) 2.28
Genome-wide association study in a Swedish population yields support for greater CNV and MHC involvement in schizophrenia compared with bipolar disorder. Mol Psychiatry (2012) 2.09
Rare copy number variants are an important cause of epileptic encephalopathies. Ann Neurol (2011) 1.88
Dosage-dependent phenotypes in models of 16p11.2 lesions found in autism. Proc Natl Acad Sci U S A (2011) 1.82
Copy number variation plays an important role in clinical epilepsy. Ann Neurol (2014) 1.73
Copy number variants are frequent in genetic generalized epilepsy with intellectual disability. Neurology (2013) 1.72
A 600 kb deletion syndrome at 16p11.2 leads to energy imbalance and neuropsychiatric disorders. J Med Genet (2012) 1.63
Replicative mechanisms for CNV formation are error prone. Nat Genet (2013) 1.54
Genome-wide transcriptome profiling reveals the functional impact of rare de novo and recurrent CNVs in autism spectrum disorders. Am J Hum Genet (2012) 1.52
Developmental brain dysfunction: revival and expansion of old concepts based on new genetic evidence. Lancet Neurol (2013) 1.48
Genomic copy number variation in disorders of cognitive development. J Am Acad Child Adolesc Psychiatry (2010) 1.47
The genetics of attention deficit/hyperactivity disorder in adults, a review. Mol Psychiatry (2011) 1.46
Risk factors for autism: translating genomic discoveries into diagnostics. Hum Genet (2011) 1.46
Phenotypic consequences of copy number variation: insights from Smith-Magenis and Potocki-Lupski syndrome mouse models. PLoS Biol (2010) 1.36
Doc2 supports spontaneous synaptic transmission by a Ca(2+)-independent mechanism. Neuron (2011) 1.33
Duplication 16p11.2 in a child with infantile seizure disorder. Am J Med Genet A (2010) 1.30
Evaluation of copy number variations reveals novel candidate genes in autism spectrum disorder-associated pathways. Hum Mol Genet (2012) 1.29
Copy number gain at Xp22.31 includes complex duplication rearrangements and recurrent triplications. Hum Mol Genet (2011) 1.25
Copy number variants for schizophrenia and related psychotic disorders in Oceanic Palau: risk and transmission in extended pedigrees. Biol Psychiatry (2011) 1.25
Replication stress and mechanisms of CNV formation. Curr Opin Genet Dev (2012) 1.23
NAHR-mediated copy-number variants in a clinical population: mechanistic insights into both genomic disorders and Mendelizing traits. Genome Res (2013) 1.21
Genomic insights into the overlap between psychiatric disorders: implications for research and clinical practice. Genome Med (2014) 1.17
Compared to what? Early brain overgrowth in autism and the perils of population norms. Biol Psychiatry (2013) 1.16
The cognitive and behavioral phenotype of the 16p11.2 deletion in a clinically ascertained population. Biol Psychiatry (2014) 1.11
Behavioral abnormalities and circuit defects in the basal ganglia of a mouse model of 16p11.2 deletion syndrome. Cell Rep (2014) 1.10
Copy number variations and cognitive phenotypes in unselected populations. JAMA (2015) 1.09
New mutations and intellectual function. Nat Genet (2010) 1.08
Common variant at 16p11.2 conferring risk of psychosis. Mol Psychiatry (2012) 1.08
Clinical applications of schizophrenia genetics: genetic diagnosis, risk, and counseling in the molecular era. Appl Clin Genet (2012) 1.07
Phenotypic manifestations of copy number variation in chromosome 16p13.11. Eur J Hum Genet (2010) 1.06
High rate of disease-related copy number variations in childhood onset schizophrenia. Mol Psychiatry (2013) 1.06
Genomic Copy Number Analysis in Alzheimer's Disease and Mild Cognitive Impairment: An ADNI Study. Int J Alzheimers Dis (2011) 1.05
Opposing brain differences in 16p11.2 deletion and duplication carriers. J Neurosci (2014) 1.05
Genomic alterations that contribute to the development of isolated and non-isolated congenital diaphragmatic hernia. J Med Genet (2011) 1.05
Global transcriptional disturbances underlie Cornelia de Lange syndrome and related phenotypes. J Clin Invest (2015) 1.05
Infantile convulsions with paroxysmal dyskinesia (ICCA syndrome) and copy number variation at human chromosome 16p11. PLoS One (2010) 1.04
The 16p11.2 locus modulates brain structures common to autism, schizophrenia and obesity. Mol Psychiatry (2014) 1.03
Identification of rare recurrent copy number variants in high-risk autism families and their prevalence in a large ASD population. PLoS One (2013) 1.03
A duplication CNV that conveys traits reciprocal to metabolic syndrome and protects against diet-induced obesity in mice and men. PLoS Genet (2012) 1.03
Detection of copy-number variation in AUTS2 gene by targeted exonic array CGH in patients with developmental delay and autistic spectrum disorders. Eur J Hum Genet (2012) 1.03
MLPA for confirmation of array CGH results and determination of inheritance. Mol Cytogenet (2010) 1.02
NIPBL rearrangements in Cornelia de Lange syndrome: evidence for replicative mechanism and genotype-phenotype correlation. Genet Med (2012) 1.01
The phenotype of recurrent 10q22q23 deletions and duplications. Eur J Hum Genet (2011) 1.01
Expanding the clinical spectrum of the 16p11.2 chromosomal rearrangements: three patients with syringomyelia. Eur J Hum Genet (2010) 1.00
Structural variation mutagenesis of the human genome: Impact on disease and evolution. Environ Mol Mutagen (2015) 1.00
The genomics of schizophrenia: update and implications. J Clin Invest (2013) 0.98
High incidence of recurrent copy number variants in patients with isolated and syndromic Müllerian aplasia. J Med Genet (2011) 0.98
Are copy number variants associated with adolescent idiopathic scoliosis? Clin Orthop Relat Res (2014) 0.97
Recurrent distal 7q11.23 deletion including HIP1 and YWHAG identified in patients with intellectual disabilities, epilepsy, and neurobehavioral problems. Am J Hum Genet (2010) 0.97
GABAB Receptor Agonist R-Baclofen Reverses Social Deficits and Reduces Repetitive Behavior in Two Mouse Models of Autism. Neuropsychopharmacology (2015) 0.97
Diagnostic yield of chromosomal microarray analysis in an autism primary care practice: which guidelines to implement? J Autism Dev Disord (2012) 0.97
Association testing of copy number variants in schizophrenia and autism spectrum disorders. J Neurodev Disord (2012) 0.96
Autism multiplex family with 16p11.2p12.2 microduplication syndrome in monozygotic twins and distal 16p11.2 deletion in their brother. Eur J Hum Genet (2012) 0.94
Retinoic Acid Induced 1, RAI1: A Dosage Sensitive Gene Related to Neurobehavioral Alterations Including Autistic Behavior. Curr Genomics (2010) 0.93
Dual copy number variants involving 16p11 and 6q22 in a case of childhood apraxia of speech and pervasive developmental disorder. Eur J Hum Genet (2012) 0.93
The contribution of CLIP2 haploinsufficiency to the clinical manifestations of the Williams-Beuren syndrome. Am J Hum Genet (2012) 0.91
Searching for a minimal set of behaviors for autism detection through feature selection-based machine learning. Transl Psychiatry (2015) 0.91
Further Evidence of Contrasting Phenotypes Caused by Reciprocal Deletions and Duplications: Duplication of NSD1 Causes Growth Retardation and Microcephaly. Mol Syndromol (2013) 0.91
Dosage changes of a segment at 17p13.1 lead to intellectual disability and microcephaly as a result of complex genetic interaction of multiple genes. Am J Hum Genet (2014) 0.90
Genome-wide copy number analysis uncovers a new HSCR gene: NRG3. PLoS Genet (2012) 0.90
Childhood Apraxia of Speech (CAS) in two patients with 16p11.2 microdeletion syndrome. Eur J Hum Genet (2012) 0.89
CHRNA7 triplication associated with cognitive impairment and neuropsychiatric phenotypes in a three-generation pedigree. Eur J Hum Genet (2014) 0.89
Genotype-first analysis of the 16p11.2 deletion defines a new type of "autism". Biol Psychiatry (2015) 0.89
Copy number variants: a new molecular frontier in clinical psychiatry. Curr Psychiatry Rep (2011) 0.89
Genetics: Fish heads and human disease. Nature (2012) 0.88
Genetic architecture of reciprocal CNVs. Curr Opin Genet Dev (2013) 0.88
Synaptic plasticity, neural circuits, and the emerging role of altered short-term information processing in schizophrenia. Front Synaptic Neurosci (2014) 0.87
Genomic analysis identifies candidate pathogenic variants in 9 of 18 patients with unexplained West syndrome. Hum Genet (2015) 0.87
Compound heterozygous CORO1A mutations in siblings with a mucocutaneous-immunodeficiency syndrome of epidermodysplasia verruciformis-HPV, molluscum contagiosum and granulomatous tuberculoid leprosy. J Clin Immunol (2014) 0.86
Reciprocal Effects on Neurocognitive and Metabolic Phenotypes in Mouse Models of 16p11.2 Deletion and Duplication Syndromes. PLoS Genet (2016) 0.86
Zebrafish homologs of genes within 16p11.2, a genomic region associated with brain disorders, are active during brain development, and include two deletion dosage sensor genes. Dis Model Mech (2012) 0.86
Genome-wide analysis of rare copy number variations reveals PARK2 as a candidate gene for attention-deficit/hyperactivity disorder. Mol Psychiatry (2012) 0.85
Small rare recurrent deletions and reciprocal duplications in 2q21.1, including brain-specific ARHGEF4 and GPR148. Hum Mol Genet (2012) 0.85
Discovery of Rare Mutations in Autism: Elucidating Neurodevelopmental Mechanisms. Neurotherapeutics (2015) 0.85
Paroxysmal kinesigenic dyskinesia caused by 16p11.2 microdeletion. Tremor Other Hyperkinet Mov (N Y) (2014) 0.84
16p11.2 Deletion Syndrome Mice Display Sensory and Ultrasonic Vocalization Deficits During Social Interactions. Autism Res (2015) 0.84
Neurodevelopmental and neurobehavioral characteristics in males and females with CDKL5 duplications. Eur J Hum Genet (2014) 0.83
Deletions of 16p11.2 and 19p13.2 in a family with intellectual disability and generalized epilepsy. Am J Med Genet A (2013) 0.83
Does epilepsy in multiplex autism pedigrees define a different subgroup in terms of clinical characteristics and genetic risk? Mol Autism (2013) 0.83
16p11.2 Deletion mice display cognitive deficits in touchscreen learning and novelty recognition tasks. Learn Mem (2015) 0.82
Mosaic structural variation in children with developmental disorders. Hum Mol Genet (2015) 0.81
Germline PRKACA amplification causes variable phenotypes that may depend on the extent of the genomic defect: molecular mechanisms and clinical presentations. Eur J Endocrinol (2015) 0.81
Animal models of psychiatric disorders that reflect human copy number variation. Neural Plast (2012) 0.81
Sequencing of the TBX6 Gene in Families with Familial Idiopathic Scoliosis. Spine Deform (2015) 0.80
Genetic insights into the functional elements of language. Hum Genet (2013) 0.80
Characterizing autism spectrum disorders by key biochemical pathways. Front Neurosci (2015) 0.80
ZNF764 haploinsufficiency may explain partial glucocorticoid, androgen, and thyroid hormone resistance associated with 16p11.2 microdeletion. J Clin Endocrinol Metab (2012) 0.80
The continuum of causality in human genetic disorders. Genome Biol (2016) 0.80
Maternal Modifiers and Parent-of-Origin Bias of the Autism-Associated 16p11.2 CNV. Am J Hum Genet (2015) 0.80
Copy number variants in obesity-related syndromes: review and perspectives on novel molecular approaches. J Obes (2012) 0.79
Strong association of de novo copy number mutations with autism. Science (2007) 27.84
Rare chromosomal deletions and duplications increase risk of schizophrenia. Nature (2008) 20.31
Large recurrent microdeletions associated with schizophrenia. Nature (2008) 20.25
Association between microdeletion and microduplication at 16p11.2 and autism. N Engl J Med (2008) 19.71
Structural variation of chromosomes in autism spectrum disorder. Am J Hum Genet (2008) 15.51
Genome architecture, rearrangements and genomic disorders. Trends Genet (2002) 12.26
Recurrent rearrangements of chromosome 1q21.1 and variable pediatric phenotypes. N Engl J Med (2008) 10.88
Discovery of previously unidentified genomic disorders from the duplication architecture of the human genome. Nat Genet (2006) 10.36
A recurrent 15q13.3 microdeletion syndrome associated with mental retardation and seizures. Nat Genet (2008) 8.44
Genomic disorders: structural features of the genome can lead to DNA rearrangements and human disease traits. Trends Genet (1998) 7.93
Genomic disorders: molecular mechanisms for rearrangements and conveyed phenotypes. PLoS Genet (2005) 7.60
Recurrent 16p11.2 microdeletions in autism. Hum Mol Genet (2007) 6.75
15q13.3 microdeletions increase risk of idiopathic generalized epilepsy. Nat Genet (2009) 6.21
A new chromosome 17q21.31 microdeletion syndrome associated with a common inversion polymorphism. Nat Genet (2006) 5.92
Microdeletion encompassing MAPT at chromosome 17q21.3 is associated with developmental delay and learning disability. Nat Genet (2006) 5.59
Recurrent reciprocal 1q21.1 deletions and duplications associated with microcephaly or macrocephaly and developmental and behavioral abnormalities. Nat Genet (2008) 4.87
Array-based comparative genomic hybridisation identifies high frequency of cryptic chromosomal rearrangements in patients with syndromic autism spectrum disorders. J Med Genet (2006) 4.64
Germline rates of de novo meiotic deletions and duplications causing several genomic disorders. Nat Genet (2007) 4.59
Further delineation of the 15q13 microdeletion and duplication syndromes: a clinical spectrum varying from non-pathogenic to a severe outcome. J Med Genet (2009) 3.87
Emerging patterns of cryptic chromosomal imbalance in patients with idiopathic mental retardation and multiple congenital anomalies: a new series of 140 patients and review of published reports. J Med Genet (2006) 3.70
Characterization of a recurrent 15q24 microdeletion syndrome. Hum Mol Genet (2007) 3.54
Development and validation of a CGH microarray for clinical cytogenetic diagnosis. Genet Med (2005) 3.39
Head circumference and height in autism: a study by the Collaborative Program of Excellence in Autism. Am J Med Genet A (2006) 3.01
Knockout of ERK1 MAP kinase enhances synaptic plasticity in the striatum and facilitates striatal-mediated learning and memory. Neuron (2002) 2.93
Extending the phenotype of recurrent rearrangements of 16p11.2: deletions in mentally retarded patients without autism and in normal individuals. Eur J Med Genet (2009) 2.65
Discovery of a previously unrecognized microdeletion syndrome of 16p11.2-p12.2. Nat Genet (2007) 2.59
Increased LIS1 expression affects human and mouse brain development. Nat Genet (2009) 2.45
Bacterial artificial chromosome-emulation oligonucleotide arrays for targeted clinical array-comparative genomic hybridization analyses. Genet Med (2008) 2.36
Psychosis and autism as diametrical disorders of the social brain. Behav Brain Sci (2008) 2.33
Microdeletion 15q13.3: a locus with incomplete penetrance for autism, mental retardation, and psychiatric disorders. J Med Genet (2009) 2.13
Haplotype sorting using human fosmid clone end-sequence pairs. Genome Res (2008) 2.10
Clinical and molecular delineation of the 17q21.31 microdeletion syndrome. J Med Genet (2008) 2.09
Evolution in health and medicine Sackler colloquium: Comparative genomics of autism and schizophrenia. Proc Natl Acad Sci U S A (2009) 1.95
Histone deacetylase 3 (HDAC3) activity is regulated by interaction with protein serine/threonine phosphatase 4. Genes Dev (2005) 1.94
Genomic disorders ten years on. Genome Med (2009) 1.81
Variability in clinical phenotype despite common chromosomal deletion in Smith-Magenis syndrome [del(17)(p11.2p11.2)]. Genet Med (2003) 1.59
The array CGH and its clinical applications. Drug Discov Today (2008) 1.55
Redefined genomic architecture in 15q24 directed by patient deletion/duplication breakpoint mapping. Hum Genet (2009) 1.46
Severe combined immunodeficiency (SCID) and attention deficit hyperactivity disorder (ADHD) associated with a Coronin-1A mutation and a chromosome 16p11.2 deletion. Clin Immunol (2008) 1.46
Association and mutation analyses of 16p11.2 autism candidate genes. PLoS One (2009) 1.27
Phenotypic consequences of genetic variation at hemizygous alleles: Sotos syndrome is a contiguous gene syndrome incorporating coagulation factor twelve (FXII) deficiency. Genet Med (2005) 1.25
Doc2: a novel brain protein having two repeated C2-like domains. Biochem Biophys Res Commun (1995) 1.20
Effect of the ubiquitous transcription factors, SP1 and MAZ, on NMDA receptor subunit type 1 (NR1) expression during neuronal differentiation. Brain Res Mol Brain Res (2002) 1.10
Protein phosphatase 4 interacts with the Survival of Motor Neurons complex and enhances the temporal localisation of snRNPs. J Cell Sci (2003) 1.09
Genomic sister-disorders of neurodevelopment: an evolutionary approach. Evol Appl (2009) 1.09
ABase-a tool for the rapid assessment of anthropometric measurements on handheld computers. Am J Med Genet A (2003) 1.06
Quinolinic-phosphoribosyl transferase activity is decreased in epileptic human brain tissue. Epilepsia (1988) 1.01
Overexpression of serum amyloid A-activating factor 1 inhibits cell proliferation by the induction of cyclin-dependent protein kinase inhibitor p21WAF-1/Cip-1/Sdi-1 expression. J Immunol (2004) 0.87
A second generation human haplotype map of over 3.1 million SNPs. Nature (2007) 85.39
The complete genome of an individual by massively parallel DNA sequencing. Nature (2008) 52.81
Erlotinib in previously treated non-small-cell lung cancer. N Engl J Med (2005) 31.48
Erlotinib plus gemcitabine compared with gemcitabine alone in patients with advanced pancreatic cancer: a phase III trial of the National Cancer Institute of Canada Clinical Trials Group. J Clin Oncol (2007) 25.52
Genome-wide detection and characterization of positive selection in human populations. Nature (2007) 17.27
Clinical whole-exome sequencing for the diagnosis of mendelian disorders. N Engl J Med (2013) 15.85
The consensus coding sequence (CCDS) project: Identifying a common protein-coding gene set for the human and mouse genomes. Genome Res (2009) 14.90
The NIH Roadmap Epigenomics Mapping Consortium. Nat Biotechnol (2010) 13.99
Whole-genome sequencing in a patient with Charcot-Marie-Tooth neuropathy. N Engl J Med (2010) 13.57
Genome architecture, rearrangements and genomic disorders. Trends Genet (2002) 12.26
Multiple recurrent de novo CNVs, including duplications of the 7q11.23 Williams syndrome region, are strongly associated with autism. Neuron (2011) 10.61
High-resolution genomic profiling of chromosomal aberrations using Infinium whole-genome genotyping. Genome Res (2006) 10.45
A DNA replication mechanism for generating nonrecurrent rearrangements associated with genomic disorders. Cell (2007) 9.81
Mechanisms of change in gene copy number. Nat Rev Genet (2009) 9.01
Structural variation in the human genome and its role in disease. Annu Rev Med (2010) 7.85
Copy number variation in human health, disease, and evolution. Annu Rev Genomics Hum Genet (2009) 7.64
Genomic disorders: molecular mechanisms for rearrangements and conveyed phenotypes. PLoS Genet (2005) 7.60
Revision of the American Joint Committee on Cancer staging system for breast cancer. J Clin Oncol (2002) 6.51
A microhomology-mediated break-induced replication model for the origin of human copy number variation. PLoS Genet (2009) 6.39
Voltage-dependent anion channels are dispensable for mitochondrial-dependent cell death. Nat Cell Biol (2007) 5.60
European population substructure: clustering of northern and southern populations. PLoS Genet (2006) 5.27
Chromosomal microarray versus karyotyping for prenatal diagnosis. N Engl J Med (2012) 4.97
VDAC2 inhibits BAK activation and mitochondrial apoptosis. Science (2003) 4.92
Implementing genomic medicine in the clinic: the future is here. Genet Med (2013) 4.89
Recurrent reciprocal 1q21.1 deletions and duplications associated with microcephaly or macrocephaly and developmental and behavioral abnormalities. Nat Genet (2008) 4.87
Disruption of Bardet-Biedl syndrome ciliary proteins perturbs planar cell polarity in vertebrates. Nat Genet (2005) 4.76
Ancestry informative marker sets for determining continental origin and admixture proportions in common populations in America. Hum Mutat (2009) 4.65
Mechanisms for human genomic rearrangements. Pathogenetics (2008) 4.54
Clan genomics and the complex architecture of human disease. Cell (2011) 4.53
Whole-genome sequencing for optimized patient management. Sci Transl Med (2011) 4.51
Molecular mechanisms for genomic disorders. Annu Rev Genomics Hum Genet (2002) 4.51
Implications of human genome architecture for rearrangement-based disorders: the genomic basis of disease. Hum Mol Genet (2004) 4.47
Completing the map of human genetic variation. Nature (2007) 4.38
Prader-Willi phenotype caused by paternal deficiency for the HBII-85 C/D box small nucleolar RNA cluster. Nat Genet (2008) 4.10
Mutations in the D-2-hydroxyglutarate dehydrogenase gene cause D-2-hydroxyglutaric aciduria. Am J Hum Genet (2004) 4.08
Gigantism and acromegaly due to Xq26 microduplications and GPR101 mutation. N Engl J Med (2014) 4.00
Mutation of FIG4 causes neurodegeneration in the pale tremor mouse and patients with CMT4J. Nature (2007) 3.91
The DNA replication FoSTeS/MMBIR mechanism can generate genomic, genic and exonic complex rearrangements in humans. Nat Genet (2009) 3.81
Nonsense-mediated mRNA decay modulates clinical outcome of genetic disease. Eur J Hum Genet (2006) 3.80
Human genome sequencing in health and disease. Annu Rev Med (2012) 3.76
Genomic rearrangements and gene copy-number alterations as a cause of nervous system disorders. Neuron (2006) 3.65
Inhibition of SIRT1 reactivates silenced cancer genes without loss of promoter DNA hypermethylation. PLoS Genet (2006) 3.54
Clinical characterization of left ventricular noncompaction in children: a relatively common form of cardiomyopathy. Circulation (2003) 3.54
Clinical implementation of chromosomal microarray analysis: summary of 2513 postnatal cases. PLoS One (2007) 3.53
Symptom improvement in lung cancer patients treated with erlotinib: quality of life analysis of the National Cancer Institute of Canada Clinical Trials Group Study BR.21. J Clin Oncol (2006) 3.52
Microbial DNA typing by automated repetitive-sequence-based PCR. J Clin Microbiol (2005) 3.44
Small molecule blockade of transcriptional coactivation of the hypoxia-inducible factor pathway. Cancer Cell (2004) 3.43
Genomic and genic deletions of the FOX gene cluster on 16q24.1 and inactivating mutations of FOXF1 cause alveolar capillary dysplasia and other malformations. Am J Hum Genet (2009) 3.42
Development and validation of a CGH microarray for clinical cytogenetic diagnosis. Genet Med (2005) 3.39
A genomewide single-nucleotide-polymorphism panel for Mexican American admixture mapping. Am J Hum Genet (2007) 3.39
Texas lifestyle limits transmission of dengue virus. Emerg Infect Dis (2003) 3.34
Characterization of Potocki-Lupski syndrome (dup(17)(p11.2p11.2)) and delineation of a dosage-sensitive critical interval that can convey an autism phenotype. Am J Hum Genet (2007) 3.26
Correlation between development of rash and efficacy in patients treated with the epidermal growth factor receptor tyrosine kinase inhibitor erlotinib in two large phase III studies. Clin Cancer Res (2007) 3.18
The Centers for Mendelian Genomics: a new large-scale initiative to identify the genes underlying rare Mendelian conditions. Am J Med Genet A (2012) 3.12
Use of array CGH in the evaluation of dysmorphology, malformations, developmental delay, and idiopathic mental retardation. Curr Opin Genet Dev (2007) 3.08
Crowding delays treatment and lengthens emergency department length of stay, even among high-acuity patients. Ann Emerg Med (2009) 3.07
Chromosome catastrophes involve replication mechanisms generating complex genomic rearrangements. Cell (2011) 3.03
Defective DNA single-strand break repair in spinocerebellar ataxia with axonal neuropathy-1. Nature (2005) 2.98
Mutations in X-linked PORCN, a putative regulator of Wnt signaling, cause focal dermal hypoplasia. Nat Genet (2007) 2.94
Detection of clinically relevant exonic copy-number changes by array CGH. Hum Mutat (2010) 2.93
Mutation of TDP1, encoding a topoisomerase I-dependent DNA damage repair enzyme, in spinocerebellar ataxia with axonal neuropathy. Nat Genet (2002) 2.91
Angelman syndrome 2005: updated consensus for diagnostic criteria. Am J Med Genet A (2006) 2.86
Loss of BBS proteins causes anosmia in humans and defects in olfactory cilia structure and function in the mouse. Nat Genet (2004) 2.84
Propensity to high-fat diet-induced obesity in rats is associated with changes in the gut microbiota and gut inflammation. Am J Physiol Gastrointest Liver Physiol (2010) 2.84
Molecular mechanism for distinct neurological phenotypes conveyed by allelic truncating mutations. Nat Genet (2004) 2.82
Increased MECP2 gene copy number as the result of genomic duplication in neurodevelopmentally delayed males. Genet Med (2006) 2.78