Published in Am J Med Genet A on July 01, 2007
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
Clinical and molecular delineation of the 17q21.31 microdeletion syndrome. J Med Genet (2008) 2.09
Genomic imbalances in neonates with birth defects: high detection rates by using chromosomal microarray analysis. Pediatrics (2008) 2.00
Identification of chromosome abnormalities in subtelomeric regions by microarray analysis: a study of 5,380 cases. Am J Med Genet A (2008) 1.51
Phenotypic overlap in the contribution of individual genes to CNV pathogenicity revealed by cross-species computational analysis of single-gene mutations in humans, mice and zebrafish. Dis Model Mech (2012) 1.39
Submicroscopic subtelomeric aberrations in Chinese patients with unexplained developmental delay/mental retardation. BMC Med Genet (2010) 1.29
A novel custom high density-comparative genomic hybridization array detects common rearrangements as well as deep intronic mutations in dystrophinopathies. BMC Genomics (2008) 1.11
Clinical utility of array comparative genomic hybridization: uncovering tumor susceptibility in individuals with developmental delay. J Pediatr (2009) 0.90
Parental imbalances involving chromosomes 15q and 22q may predispose to the formation of de novo pathogenic microdeletions and microduplications in the offspring. PLoS One (2013) 0.78
Chromosomal imbalance letter: Phenotypic consequences of combined deletion 8pter and duplication 15qter. Mol Cytogenet (2013) 0.76
Ruler arrays reveal haploid genomic structural variation. PLoS One (2012) 0.75
Molecular cytogenetic analysis of telomere rearrangements. Curr Protoc Hum Genet (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
CTCF mediates interchromosomal colocalization between Igf2/H19 and Wsb1/Nf1. Science (2006) 7.68
Feeder-free derivation of induced pluripotent stem cells from adult human adipose stem cells. Proc Natl Acad Sci U S A (2009) 3.57
Terminal 22q deletion syndrome: a newly recognized cause of speech and language disability in the autism spectrum. Pediatrics (2004) 3.48
Is it time to sound an alarm about false-positive cell-free DNA testing for fetal aneuploidy? Am J Obstet Gynecol (2013) 2.33
An atypical deletion of the Williams-Beuren syndrome interval implicates genes associated with defective visuospatial processing and autism. J Med Genet (2006) 1.78
TCOF1 mutations excluded from a role in other first and second branchial arch-related disorders. Am J Med Genet (2002) 1.69
Evaluation of Her-2/neu status in carcinomas with amplified chromosome 17 centromere locus. Am J Clin Pathol (2006) 1.62
22q13.3 deletion syndrome: a recognizable malformation syndrome associated with marked speech and language delay. Am J Med Genet C Semin Med Genet (2007) 1.37
Induced chromosome deletions cause hypersociability and other features of Williams-Beuren syndrome in mice. EMBO Mol Med (2009) 1.30
HER2 expression in gastric and gastroesophageal junction adenocarcinoma in a US population: clinicopathologic analysis with proposed approach to HER2 assessment. Appl Immunohistochem Mol Morphol (2012) 1.27
Molecular analysis of chromosomal rearrangements in mammalian cells after phiC31-mediated integration. Hum Gene Ther (2006) 1.25
Still a screening test: more attention needed to noninvasive prenatal test false-positive rates. Am J Obstet Gynecol (2013) 1.18
Utility of interphase FISH to stratify patients into cytogenetic risk categories at diagnosis of AML in an Eastern Cooperative Oncology Group (ECOG) clinical trial (E1900). Leuk Res (2006) 1.12
A report of three patients with an interstitial deletion of chromosome 15q24. Am J Med Genet A (2005) 1.10
Fetal alcohol spectrum disorders: Extending the range of structural defects. Am J Med Genet A (2010) 1.00
Array-based comparative genomic hybridization: clinical contexts for targeted and whole-genome designs. Genet Med (2007) 1.00
A functional SNP in the promoter region of TCOF1 is associated with reduced gene expression and YY1 DNA-protein interaction. Gene (2005) 0.99
Maternal factors predicting cognitive and behavioral characteristics of children with fetal alcohol spectrum disorders. J Dev Behav Pediatr (2013) 0.99
Identification of novel Runx1 (AML1) translocation partner genes SH3D19, YTHDf2, and ZNF687 in acute myeloid leukemia. Genes Chromosomes Cancer (2006) 0.98
Triplication of 8p22-8p23 in a patient with features similar to Kabuki syndrome. Am J Med Genet A (2006) 0.97
Overexpression of the anaphase promoting complex/cyclosome inhibitor Emi1 leads to tetraploidy and genomic instability of p53-deficient cells. Cell Cycle (2006) 0.96
Epstein-Barr virus-associated peripheral T-cell lymphoma and hemophagocytic syndrome arising after liver transplantation: case report and review of the literature. Pediatr Blood Cancer (2005) 0.93
Characterization of D-cyclin proteins in hematolymphoid neoplasms: lack of specificity of cyclin-D2 and D3 expression in lymphoma subtypes. Mod Pathol (2010) 0.92
Complete remission of primary plasma cell leukemia with bortezomib, doxorubicin, and dexamethasone: a case report. Cases J (2009) 0.92
Terminal deletion of 6p results in a recognizable phenotype. Am J Med Genet A (2005) 0.89
Hidden mastocytosis in acute myeloid leukemia with t(8;21)(q22;q22). Am J Clin Pathol (2013) 0.88
Impact of complex NOTCH1 mutations on survival in paediatric T-cell leukaemia. BMC Cancer (2012) 0.87
Preferential expression of a mutant allele of the amplified MDR1 (ABCB1) gene in drug-resistant variants of a human sarcoma. Genes Chromosomes Cancer (2002) 0.87
Loss of SMARCB1/INI1 expression in poorly differentiated chordomas. Acta Neuropathol (2010) 0.86
Complex or monosomal karyotype and not blast percentage is associated with poor survival in acute myeloid leukemia and myelodysplastic syndrome patients with inv(3)(q21q26.2)/t(3;3)(q21;q26.2): a Bone Marrow Pathology Group study. Haematologica (2014) 0.86
GATA1 mutations in acute leukemia in children with Down syndrome. Cancer Genet Cytogenet (2006) 0.85
Perinatal features of the RASopathies: Noonan syndrome, cardiofaciocutaneous syndrome and Costello syndrome. Am J Med Genet A (2014) 0.83
Comprehensive whole-genome sequencing of an early-stage primary myelofibrosis patient defines low mutational burden and non-recurrent candidate genes. Haematologica (2013) 0.82
Fluorescence in situ hybridization investigation of cutaneous lesions in acute promyelocytic leukemia. Mod Pathol (2005) 0.81
Methotrexate/misoprostol embryopathy: report of four cases resulting from failed medical abortion. Am J Med Genet A (2003) 0.81
Auriculo-condylar syndrome: mapping of a first locus and evidence for genetic heterogeneity. Eur J Hum Genet (2007) 0.81
Low-grade B-Cell lymphomas with plasmacytic differentiation lack PAX5 gene rearrangements. J Mol Diagn (2005) 0.81
Mild developmental delay in terminal chromosome 6p deletion. Am J Med Genet A (2004) 0.80
Nablus mask-like facial syndrome is caused by a microdeletion of 8q detected by array-based comparative genomic hybridization. Am J Med Genet A (2006) 0.80
Cytologic diagnosis of Burkitt lymphoma. Cancer (2005) 0.79
T-cell lymphoblastic leukemia in early childhood presents NOTCH1 mutations and MLL rearrangements. Leuk Res (2009) 0.79
ACMG Policy Statement. Risk categorization for oversight of laboratory-developed tests for inherited conditions. Genet Med (2013) 0.79
Transient neonatal myeloproliferative disorder without Down syndrome and detection of GATA1 mutation. J Pediatr Hematol Oncol (2005) 0.79
Short tandem repeat and human leukocyte antigen mutations or losses confound engraftment and typing analysis in hematopoietic stem cell transplants. Hum Immunol (2011) 0.78
Ectopia lentis as the presenting and primary feature in Marfan syndrome. Am J Med Genet A (2011) 0.78
Gliosarcoma with melanocytic differentiation. Acta Neuropathol (2007) 0.78
Neonatal pulmonary arterial hypertension and Noonan syndrome: two fatal cases with a specific RAF1 mutation. Am J Med Genet A (2015) 0.77
Immunophenotypic features of acute myeloid leukemia with inv(3)(q21q26.2)/t(3;3)(q21;q26.2). Leuk Res (2009) 0.77
Developmental pathogenesis of short palpebral fissure length in children with fetal alcohol syndrome. Birth Defects Res A Clin Mol Teratol (2009) 0.77
Report of two patients and further characterization of interstitial 9p13 deletion--a rare but recurrent microdeletion syndrome? Am J Med Genet A (2012) 0.76
GATA1 mutations in myeloproliferative disorders: nomenclature standardization and review of the literature. Hum Mutat (2005) 0.75
Detection of mutations in GATA1 gene using automated denaturing high-performance liquid chromatography and direct sequencing in children with Down syndrome. Leuk Lymphoma (2009) 0.75
Chromosomal aberrations in a case of synchronous extranodal marginal zone B-cell lymphoma of mucosa-associated lymphoid tissue type and bronchogenic adenocarcinoma. Appl Immunohistochem Mol Morphol (2008) 0.75
A pediatric B lineage leukemia with coincident MYC and MLL translocations. J Pediatr Hematol Oncol (2011) 0.75
B-cell transcription factor expression and immunoglobulin gene rearrangement frequency in acute myeloid leukemia with t(8;21)(q22;q22). Am J Clin Pathol (2013) 0.75
FISHing for answers: the use of molecular cytogenetic techniques in adolescent medicine practice. Adolesc Med (2002) 0.75