Published in Nat Genet on July 01, 2007
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Characterising and predicting haploinsufficiency in the human genome. PLoS Genet (2010) 4.85
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Comprehensive assessment of array-based platforms and calling algorithms for detection of copy number variants. Nat Biotechnol (2011) 3.25
The functional impact of structural variation in humans. Trends Genet (2008) 2.03
Genomic imbalances in neonates with birth defects: high detection rates by using chromosomal microarray analysis. Pediatrics (2008) 2.00
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Accurate distinction of pathogenic from benign CNVs in mental retardation. PLoS Comput Biol (2010) 1.75
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A profile of the genetic counsellor and genetic nurse profession in European countries. J Community Genet (2011) 1.46
High-resolution SNP arrays in mental retardation diagnostics: how much do we gain? Eur J Hum Genet (2009) 1.46
Combined array CGH plus SNP genome analyses in a single assay for optimized clinical testing. Eur J Hum Genet (2013) 1.30
Copy number variant analysis of human embryonic stem cells. Stem Cells (2008) 1.29
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Forging links between human mental retardation-associated CNVs and mouse gene knockout models. PLoS Genet (2009) 1.23
Copy number polymorphism in plant genomes. Theor Appl Genet (2013) 1.20
Genome-wide analysis shows increased frequency of copy number variation deletions in Dutch schizophrenia patients. Biol Psychiatry (2011) 1.18
Microdeletion and microduplication syndromes. J Histochem Cytochem (2012) 1.14
Genomic analysis using high-resolution single-nucleotide polymorphism arrays reveals novel microdeletions associated with premature ovarian failure. Fertil Steril (2011) 1.11
Genome-wide oligonucleotide array comparative genomic hybridization for etiological diagnosis of mental retardation: a multicenter experience of 1499 clinical cases. J Mol Diagn (2010) 1.11
The causality of de novo copy number variants is overestimated. Eur J Hum Genet (2011) 1.10
Molecular karyotyping by array CGH in a Russian cohort of children with intellectual disability, autism, epilepsy and congenital anomalies. Mol Cytogenet (2012) 1.09
Clinical applications of schizophrenia genetics: genetic diagnosis, risk, and counseling in the molecular era. Appl Clin Genet (2012) 1.07
A new diagnostic workflow for patients with mental retardation and/or multiple congenital abnormalities: test arrays first. Eur J Hum Genet (2009) 1.05
Considerations regarding the genetics of obesity. Obesity (Silver Spring) (2008) 1.00
Clinical application of whole-genome array CGH during prenatal diagnosis: Study of 25 selected pregnancies with abnormal ultrasound findings or apparently balanced structural aberrations. Mol Cytogenet (2010) 0.97
Whole-genome copy number variation analysis in anophthalmia and microphthalmia. Clin Genet (2013) 0.97
Outcome of array CGH analysis for 255 subjects with intellectual disability and search for candidate genes using bioinformatics. Hum Genet (2010) 0.97
Improved detection of global copy number variation using high density, non-polymorphic oligonucleotide probes. BMC Genet (2008) 0.96
Practical guidelines for interpreting copy number gains detected by high-resolution array in routine diagnostics. Eur J Hum Genet (2011) 0.96
Human genetics and genomics a decade after the release of the draft sequence of the human genome. Hum Genomics (2011) 0.95
Detection of pathogenic copy number variants in children with idiopathic intellectual disability using 500 K SNP array genomic hybridization. BMC Genomics (2009) 0.94
The use of array-CGH in a cohort of Greek children with developmental delay. Mol Cytogenet (2010) 0.94
Haploinsufficiency of DNA Damage Response Genes and their Potential Influence in Human Genomic Disorders. Curr Genomics (2008) 0.91
Copy number variants (CNVs) in primate species using array-based comparative genomic hybridization. Methods (2009) 0.91
Benign copy number changes in clinical cytogenetic diagnostics by array CGH. Cytogenet Genome Res (2009) 0.90
Investigation of a patient with a partial trisomy 16q including the fat mass and obesity associated gene (FTO): fine mapping and FTO gene expression study. Am J Med Genet A (2010) 0.90
Clinical impact of copy number variation analysis using high-resolution microarray technologies: advantages, limitations and concerns. Genome Med (2012) 0.90
Best diagnostic approach for the genetic evaluation of fetuses after intrauterine death in first, second or third trimester: QF-PCR, karyotyping and/or genome wide SNP array analysis. Mol Cytogenet (2014) 0.90
Frequent detection of parental consanguinity in children with developmental disorders by a combined CGH and SNP microarray. Mol Cytogenet (2013) 0.89
Genomic imbalances detected by array-CGH in patients with syndromal ocular developmental anomalies. Eur J Hum Genet (2012) 0.88
Comparison of genome-wide array genomic hybridization platforms for the detection of copy number variants in idiopathic mental retardation. BMC Med Genomics (2011) 0.88
Translating genomics into the clinic: moving to the post-Mendelian world. Genome Med (2009) 0.87
Detection of 1p36 deletion by clinical exome-first diagnostic approach. Hum Genome Var (2016) 0.86
Copy number variation analysis in the context of electronic medical records and large-scale genomics consortium efforts. Front Genet (2014) 0.86
Detection of recurrent copy number alterations in the genome: taking among-subject heterogeneity seriously. BMC Bioinformatics (2009) 0.85
A genome-wide screen for copy number alterations in Aicardi syndrome. Am J Med Genet A (2009) 0.85
Germline copy number variations associated with breast cancer susceptibility in a Japanese population. Tumour Biol (2012) 0.85
Genome-wide patterns of copy number variation in the diversified chicken genomes using next-generation sequencing. BMC Genomics (2014) 0.85
Deletion of REXO1L1 locus in a patient with malabsorption syndrome, growth retardation, and dysmorphic features: a novel recognizable microdeletion syndrome? BMC Med Genet (2015) 0.83
Genomic basis of aromatase excess syndrome: recombination- and replication-mediated rearrangements leading to CYP19A1 overexpression. J Clin Endocrinol Metab (2013) 0.83
A dynamic database of microarray-characterized cell lines with various cytogenetic and genomic backgrounds. G3 (Bethesda) (2013) 0.82
Performance of chromosomal microarray for patients with intellectual disabilities/developmental delay, autism, and multiple congenital anomalies in a Chinese cohort. Mol Cytogenet (2014) 0.82
Investigation of genetic factors underlying typical orofacial clefts: mutational screening and copy number variation. J Hum Genet (2014) 0.81
Integrated analysis of clinical signs and literature data for the diagnosis and therapy of a previously undescribed 6p21.3 deletion syndrome. Eur J Hum Genet (2010) 0.81
PECONPI: a novel software for uncovering pathogenic copy number variations in non-syndromic sensorineural hearing loss and other genetically heterogeneous disorders. Am J Med Genet A (2013) 0.81
Copy number variations burden on miRNA genes reveals layers of complexities involved in the regulation of pathways and phenotypic expression. PLoS One (2014) 0.81
Different Facets of Copy Number Changes: Permanent, Transient, and Adaptive. Mol Cell Biol (2016) 0.80
Germline copy number variation of genes involved in chromatin remodelling in families suggestive of Li-Fraumeni syndrome with brain tumours. Eur J Hum Genet (2013) 0.80
Array comparative genomic hybridization in prenatal diagnosis of first trimester pregnancies at high risk for chromosomal anomalies. Mol Cytogenet (2012) 0.80
High-resolution microarray analysis unravels complex Xq28 aberrations in patients and carriers affected by X-linked blue cone monochromacy. Clin Genet (2015) 0.79
Submicroscopic copy-number variations associated with 46,XY disorders of sex development. Mol Cell Pediatr (2015) 0.78
Cryptic genomic rearrangements in three patients with 46,XY disorders of sex development. PLoS One (2013) 0.78
SNP array screening of cryptic genomic imbalances in 450 Japanese subjects with intellectual disability and multiple congenital anomalies previously negative for large rearrangements. J Hum Genet (2016) 0.77
The clustering of functionally related genes contributes to CNV-mediated disease. Genome Res (2015) 0.77
Array-based comparative genomic hybridization in 190 Korean patients with developmental delay and/or intellectual disability: a single tertiary care university center study. Yonsei Med J (2013) 0.76
Copy number variation in CCND1 gene is implicated in the pathogenesis of sporadic parathyroid carcinoma. World J Surg (2014) 0.76
BIRC5 Genomic Copy Number Variation in Early-Onset Breast Cancer. Iran Biomed J (2016) 0.75
Copy-number variations observed in a Japanese population by BAC array CGH: summary of relatively rare CNVs. J Biomed Biotechnol (2012) 0.75
Evidence of Recent Intricate Adaptation in Human Populations. PLoS One (2016) 0.75
Influence of aflatoxin B1 on copy number variants in human leukocytes in vitro. Mol Cytogenet (2015) 0.75
New insights in the interpretation of array-CGH: autism spectrum disorder and positive family history for intellectual disability predict the detection of pathogenic variants. Ital J Pediatr (2016) 0.75
Prenatal sonographic diagnosis of urorectal septum malformation sequence and chromosomal microarray analysis: A case report and review of the literature. Medicine (Baltimore) (2016) 0.75
Deletion Extents Are Not the Cause of Clinical Variability in 22q11.2 Deletion Syndrome: Does the Interaction between DGCR8 and miRNA-CNVs Play a Major Role? Front Genet (2017) 0.75
Endocrinopathies in a boy with cryptic copy-number variations on 4q, 7q and Xp. Hum Genome Var (2015) 0.75
Copy number variation contributes to cryptic genetic variation in outbreak lineages of Cryptococcus gattii from the North American Pacific Northwest. BMC Genomics (2016) 0.75
Genomic Microarray in Intellectual Disability: The Usefulness of Existing Systems in the Interpretation of Copy Number Variation. J Pediatr Genet (2016) 0.75
A Case of 22q11 Deletion Syndrome (22q11DS) with a Panayiotopoulos Epileptic Pattern: Are Additional Copy-Number Variations a Possible Second Hit in Modulating the 22q11DS Phenotype? Front Pediatr (2017) 0.75
On the spot: very local chromosomal rearrangements. F1000 Biol Rep (2012) 0.75
The future of prenatal cytogenetic diagnostics: a personal perspective. Prenat Diagn (2010) 0.75
Copy number variation burden on asthma subgenome in normal cohorts identifies susceptibility markers. Allergy Asthma Immunol Res (2014) 0.75
MEF2C-Related 5q14.3 Microdeletion Syndrome Detected by Array CGH: A Case Report. Ann Rehabil Med (2015) 0.75
Identical deletion at 14q13.3 including PAX9 and NKX2-1 in siblings from mosaicism of unaffected parent. J Hum Genet (2015) 0.75
Analysis of chromosomal abnormalities by CGH-array in patients with dysmorphic and intellectual disability with normal karyotype. Einstein (Sao Paulo) (2016) 0.75
Copy number variations in 119 Chinese children with idiopathic short stature identified by the custom genome-wide microarray. Mol Cytogenet (2016) 0.75
Discovery of a potentially deleterious variant in TMEM87B in a patient with a hemizygous 2q13 microdeletion suggests a recessive condition characterized by congenital heart disease and restrictive cardiomyopathy. Cold Spring Harb Mol Case Stud (2016) 0.75
De novo 393 kb microdeletion of 7p11.2 characterized by aCGH in a boy with psychomotor retardation and dysmorphic features. Meta Gene (2014) 0.75
Benign, Pathogenic and Copy Number Variations of Unknown Clinical Significance in Patients with Congenital Malformations and Developmental Delay. Balkan J Med Genet (2017) 0.75
Detection of structural mosaicism from targeted and whole-genome sequencing data. Genome Res (2017) 0.75
Anaplastic lymphoma kinase inhibition in non-small-cell lung cancer. N Engl J Med (2010) 36.78
Genotypic and histological evolution of lung cancers acquiring resistance to EGFR inhibitors. Sci Transl Med (2011) 16.94
Clinical features and outcome of patients with non-small-cell lung cancer who harbor EML4-ALK. J Clin Oncol (2009) 15.23
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
Detection of mutations in EGFR in circulating lung-cancer cells. N Engl J Med (2008) 13.54
Rapid "open-source" engineering of customized zinc-finger nucleases for highly efficient gene modification. Mol Cell (2008) 11.24
ROS1 rearrangements define a unique molecular class of lung cancers. J Clin Oncol (2012) 9.76
First-line gefitinib in patients with advanced non-small-cell lung cancer harboring somatic EGFR mutations. J Clin Oncol (2008) 9.43
Activity and safety of crizotinib in patients with ALK-positive non-small-cell lung cancer: updated results from a phase 1 study. Lancet Oncol (2012) 8.64
Mechanisms of acquired crizotinib resistance in ALK-rearranged lung Cancers. Sci Transl Med (2012) 8.41
Identification of genotype-correlated sensitivity to selective kinase inhibitors by using high-throughput tumor cell line profiling. Proc Natl Acad Sci U S A (2007) 8.23
Preexistence and clonal selection of MET amplification in EGFR mutant NSCLC. Cancer Cell (2010) 7.78
Analysis of chromosome breakpoints in neuroblastoma at sub-kilobase resolution using fine-tiling oligonucleotide array CGH. Genes Chromosomes Cancer (2005) 7.53
Unique clinicopathologic features characterize ALK-rearranged lung adenocarcinoma in the western population. Clin Cancer Res (2009) 7.35
Crizotinib in ROS1-rearranged non-small-cell lung cancer. N Engl J Med (2014) 6.95
Genomic alterations of anaplastic lymphoma kinase may sensitize tumors to anaplastic lymphoma kinase inhibitors. Cancer Res (2008) 6.71
Effect of crizotinib on overall survival in patients with advanced non-small-cell lung cancer harbouring ALK gene rearrangement: a retrospective analysis. Lancet Oncol (2011) 6.69
Mosaic amplification of multiple receptor tyrosine kinase genes in glioblastoma. Cancer Cell (2011) 6.43
Rapid targeted mutational analysis of human tumours: a clinical platform to guide personalized cancer medicine. EMBO Mol Med (2010) 6.38
Loss of the mismatch repair protein MSH6 in human glioblastomas is associated with tumor progression during temozolomide treatment. Clin Cancer Res (2007) 4.99
A novel, highly sensitive antibody allows for the routine detection of ALK-rearranged lung adenocarcinomas by standard immunohistochemistry. Clin Cancer Res (2010) 4.51
Prognostic value of an RNA expression signature derived from cell cycle proliferation genes in patients with prostate cancer: a retrospective study. Lancet Oncol (2011) 4.50
An X chromosome gene, WTX, is commonly inactivated in Wilms tumor. Science (2007) 4.00
Therapeutic strategies to overcome crizotinib resistance in non-small cell lung cancers harboring the fusion oncogene EML4-ALK. Proc Natl Acad Sci U S A (2011) 3.97
Isolation and characterization of circulating tumor cells from patients with localized and metastatic prostate cancer. Sci Transl Med (2010) 3.90
Aberrant overexpression of satellite repeats in pancreatic and other epithelial cancers. Science (2011) 3.77
Hotspots for copy number variation in chimpanzees and humans. Proc Natl Acad Sci U S A (2006) 3.68
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
Acquired resistance to crizotinib from a mutation in CD74-ROS1. N Engl J Med (2013) 3.42
MET amplification identifies a small and aggressive subgroup of esophagogastric adenocarcinoma with evidence of responsiveness to crizotinib. J Clin Oncol (2011) 3.27
BRAF gene amplification can promote acquired resistance to MEK inhibitors in cancer cells harboring the BRAF V600E mutation. Sci Signal (2010) 3.25
Activity of IPI-504, a novel heat-shock protein 90 inhibitor, in patients with molecularly defined non-small-cell lung cancer. J Clin Oncol (2010) 3.15
Frequent mutation of isocitrate dehydrogenase (IDH)1 and IDH2 in cholangiocarcinoma identified through broad-based tumor genotyping. Oncologist (2011) 3.05
Case records of the Massachusetts General Hospital. Case 15-2006. A 46-year-old woman with sudden onset of abdominal distention. N Engl J Med (2006) 2.92
A platform for rapid detection of multiple oncogenic mutations with relevance to targeted therapy in non-small-cell lung cancer. J Mol Diagn (2010) 2.86
Deletion 17q12 is a recurrent copy number variant that confers high risk of autism and schizophrenia. Am J Hum Genet (2010) 2.70
ALK rearrangements are mutually exclusive with mutations in EGFR or KRAS: an analysis of 1,683 patients with non-small cell lung cancer. Clin Cancer Res (2013) 2.65
NCCN Task Force report: Evaluating the clinical utility of tumor markers in oncology. J Natl Compr Canc Netw (2011) 2.24
Routine multiplex mutational profiling of melanomas enables enrollment in genotype-driven therapeutic trials. PLoS One (2012) 2.21
Activity of crizotinib (PF02341066), a dual mesenchymal-epithelial transition (MET) and anaplastic lymphoma kinase (ALK) inhibitor, in a non-small cell lung cancer patient with de novo MET amplification. J Thorac Oncol (2011) 2.19
Spectrum of oncogenic driver mutations in lung adenocarcinomas from East Asian never smokers. PLoS One (2011) 2.17
Improved tumor oxygenation and survival in glioblastoma patients who show increased blood perfusion after cediranib and chemoradiation. Proc Natl Acad Sci U S A (2013) 2.14
MSH6 mutations arise in glioblastomas during temozolomide therapy and mediate temozolomide resistance. Clin Cancer Res (2009) 2.11
Integration of molecular profiling into the lung cancer clinic. Clin Cancer Res (2009) 2.06
BRAF V600E mutations are common in pleomorphic xanthoastrocytoma: diagnostic and therapeutic implications. PLoS One (2011) 2.04
Crizotinib for the treatment of ALK-rearranged non-small cell lung cancer: a success story to usher in the second decade of molecular targeted therapy in oncology. Oncologist (2012) 1.88
Clinical significance of TTF-1 protein expression and TTF-1 gene amplification in lung adenocarcinoma. J Cell Mol Med (2009) 1.79
Mucinous differentiation correlates with absence of EGFR mutation and presence of KRAS mutation in lung adenocarcinomas with bronchioloalveolar features. J Mol Diagn (2007) 1.77
Unique Genetic and Survival Characteristics of Invasive Mucinous Adenocarcinoma of the Lung. J Thorac Oncol (2015) 1.66
4p terminal deletion and 11p subtelomeric duplication detected by genomic microarray in a patient with Wolf-Hirschhorn syndrome and an atypical phenotype. J Pediatr (2004) 1.63
Phase 1/2 study of everolimus in advanced hepatocellular carcinoma. Cancer (2011) 1.59
Angiogenin loss-of-function mutations in amyotrophic lateral sclerosis. Ann Neurol (2007) 1.59
Genetically informed lung cancer medicine. J Pathol (2010) 1.56
Canadian anaplastic lymphoma kinase study: a model for multicenter standardization and optimization of ALK testing in lung cancer. J Thorac Oncol (2014) 1.55
Ligand-dependent platelet-derived growth factor receptor (PDGFR)-alpha activation sensitizes rare lung cancer and sarcoma cells to PDGFR kinase inhibitors. Cancer Res (2009) 1.54
EZH2 codon 641 mutations are common in BCL2-rearranged germinal center B cell lymphomas. PLoS One (2011) 1.49
FGFR1 amplification in squamous cell carcinoma of the lung. J Thorac Oncol (2012) 1.43
Histologic and cytomorphologic features of ALK-rearranged lung adenocarcinomas. Mod Pathol (2012) 1.41
Problems with ISCN FISH Nomenclature make it not practical for use in clinical test reports or cytogenetic databases [corrected]. Genet Med (2003) 1.38
Variability in interpreting and reporting copy number changes detected by array-based technology in clinical laboratories. Genet Med (2009) 1.36
Circulating oncometabolite 2-hydroxyglutarate is a potential surrogate biomarker in patients with isocitrate dehydrogenase-mutant intrahepatic cholangiocarcinoma. Clin Cancer Res (2014) 1.33
Rapid and dramatic radiographic and clinical response to an ALK inhibitor (crizotinib, PF02341066) in an ALK translocation-positive patient with non-small cell lung cancer. J Thorac Oncol (2010) 1.31
Microarray analysis for constitutional cytogenetic abnormalities. Genet Med (2007) 1.30
Epithelial to mesenchymal transition is impaired in colon cancer cells with microsatellite instability. Gastroenterology (2009) 1.30
Recurrent chromosomal copy number alterations in sporadic chordomas. PLoS One (2011) 1.24
Global genomic analysis of intraductal papillary mucinous neoplasms of the pancreas reveals significant molecular differences compared to ductal adenocarcinoma. Ann Surg (2009) 1.17
Rapid radiographic and clinical improvement after treatment of a MET-amplified recurrent glioblastoma with a mesenchymal-epithelial transition inhibitor. J Clin Oncol (2011) 1.14
Lung adenocarcinoma with EGFR amplification has distinct clinicopathologic and molecular features in never-smokers. Cancer Res (2009) 1.13
Uterine tumors resembling ovarian sex cord tumors (UTROSCT) lack the JAZF1-JJAZ1 translocation frequently seen in endometrial stromal tumors. Am J Surg Pathol (2009) 1.12
Polysomy for chromosomes 1 and 19 predicts earlier recurrence in anaplastic oligodendrogliomas with concurrent 1p/19q loss. Clin Cancer Res (2009) 1.11
Expression of oligodendroglial and astrocytic lineage markers in diffuse gliomas: use of YKL-40, ApoE, ASCL1, and NKX2-2. J Neuropathol Exp Neurol (2006) 1.10
How physicians use array comparative genomic hybridization results to guide patient management in children with developmental delay. Genet Med (2008) 1.08
BRAF V600E mutation identifies a subset of low-grade diffusely infiltrating gliomas in adults. J Clin Oncol (2013) 1.06
Prostate cancer risk and IRS1, IRS2, IGF1, and INS polymorphisms: strong association of IRS1 G972R variant and cancer risk. Prostate (2005) 1.06
The challenges posed by cancer heterogeneity. Nat Biotechnol (2012) 1.05
Immortalization of normal human mammary epithelial cells in two steps by direct targeting of senescence barriers does not require gross genomic alterations. Cell Cycle (2014) 1.05
Pathology of an islet transplant 2 years after transplantation: evidence for a nonimmunological loss. Transplantation (2008) 1.03
Prospective, high-throughput molecular profiling of human gliomas. J Neurooncol (2012) 1.02
Her-2/neu expression in osteosarcoma increases risk of lung metastasis and can be associated with gene amplification. J Pediatr Hematol Oncol (2003) 1.02
Apocrine-eccrine carcinomas: molecular and immunohistochemical analyses. PLoS One (2012) 1.01
Molecular diagnostic testing in malignant gliomas: a practical update on predictive markers. J Neuropathol Exp Neurol (2008) 1.00
A sensitive and specific diagnostic panel to distinguish diffuse astrocytoma from astrocytosis: chromosome 7 gain with mutant isocitrate dehydrogenase 1 and p53. J Neuropathol Exp Neurol (2011) 1.00
Comprehensive analysis of Wolf-Hirschhorn syndrome using array CGH indicates a high prevalence of translocations. Eur J Hum Genet (2007) 0.97
Homozygous deletions of a copy number change detected by array CGH: a new cause for mental retardation? Am J Med Genet A (2008) 0.97
ALK molecular phenotype in non-small cell lung cancer: CT radiogenomic characterization. Radiology (2014) 0.97
Pediatric-type nodal follicular lymphoma: an indolent clonal proliferation in children and adults with high proliferation index and no BCL2 rearrangement. Blood (2012) 0.97
Interstitial deletion 8q11.2-q13 with congenital anomalies of CHARGE association. Am J Med Genet A (2005) 0.96
Clinicopathologic features and outcomes of patients with lung adenocarcinomas harboring BRAF mutations in the Lung Cancer Mutation Consortium. Cancer (2014) 0.95
Decreased survival in EGFR gene amplified vulvar carcinoma. Gynecol Oncol (2008) 0.95
β-Catenin mutation status and outcomes in sporadic desmoid tumors. Oncologist (2013) 0.94
The dichotomy in carcinogenesis of the distal esophagus and esophagogastric junction: intestinal-type vs cardiac-type mucosa-associated adenocarcinoma. Mod Pathol (2011) 0.93
Oligodendroglioma and juvenile pilocytic astrocytoma presenting as synchronous primary brain tumors. Case report with histological and molecular differentiation of the tumors and review of the literature. J Neurosurg (2004) 0.92
Array comparative genomic hybridization for genetic evaluation of fetal loss between 10 and 20 weeks of gestation. Obstet Gynecol (2009) 0.92
Co-occurrence of 4p16.3 deletions with both paternal and maternal duplications of 11p15: modification of the Wolf-Hirschhorn syndrome phenotype by genetic alterations predicted to result in either a Beckwith-Wiedemann or Russell-Silver phenotype. Am J Med Genet A (2008) 0.92
A new genomic mechanism leading to cri-du-chat syndrome. Am J Med Genet A (2006) 0.91
Proficiency testing for laboratories performing fluorescence in situ hybridization with chromosome-specific DNA probes. Arch Pathol Lab Med (2002) 0.91
Case records of the Massachusetts General Hospital. Case 21-2011. A 31-year-old man with ALK-positive adenocarcinoma of the lung. N Engl J Med (2011) 0.90
In situ genetic analysis of cellular chimerism. Nat Med (2009) 0.90
Detection of a de novo interstitial 2q microdeletion by CGH microarray analysis in a patient with limb malformations, microcephaly and mental retardation. Am J Med Genet A (2007) 0.90