Published in Am J Hum Genet on March 04, 2010
Of mice and men: molecular genetics of congenital heart disease. Cell Mol Life Sci (2013) 1.10
Familial isolated clubfoot is associated with recurrent chromosome 17q23.1q23.2 microduplications containing TBX4. Am J Hum Genet (2010) 1.05
Rare DNA copy number variants in cardiovascular malformations with extracardiac abnormalities. Eur J Hum Genet (2012) 0.91
Studies of TBX4 and chromosome 17q23.1q23.2: an uncommon cause of nonsyndromic clubfoot. Am J Med Genet A (2012) 0.90
Skeletal muscle abnormalities and genetic factors related to vertical talus. Clin Orthop Relat Res (2010) 0.86
Genome-wide Analysis of Body Proportion Classifies Height-Associated Variants by Mechanism of Action and Implicates Genes Important for Skeletal Development. Am J Hum Genet (2015) 0.85
SVM²: an improved paired-end-based tool for the detection of small genomic structural variations using high-throughput single-genome resequencing data. Nucleic Acids Res (2012) 0.82
Genome-wide significant localization for working and spatial memory: Identifying genes for psychosis using models of cognition. Am J Med Genet B Neuropsychiatr Genet (2013) 0.81
A recurrent deletion syndrome at chromosome bands 2p11.2-2p12 flanked by segmental duplications at the breakpoints and including REEP1. Eur J Hum Genet (2014) 0.81
Molecular and clinical delineation of the 17q22 microdeletion phenotype. Eur J Hum Genet (2013) 0.80
TBX4 mutations (small patella syndrome) are associated with childhood-onset pulmonary arterial hypertension. J Med Genet (2013) 0.79
Genetic basis of hindlimb loss in a naturally occurring vertebrate model. Biol Open (2016) 0.77
Tbx2a is required for specification of endodermal pouches during development of the pharyngeal arches. PLoS One (2013) 0.76
Disorders caused by chromosome abnormalities. Appl Clin Genet (2010) 0.76
The role of genetics in pulmonary arterial hypertension. J Pathol (2016) 0.75
Chromosomal Microarrays: Understanding Genetics of Neurodevelopmental Disorders and Congenital Anomalies. J Pediatr Genet (2016) 0.75
Recent segmental duplications in the human genome. Science (2002) 21.30
Genome architecture, rearrangements and genomic disorders. Trends Genet (2002) 12.26
Segmental duplications: organization and impact within the current human genome project assembly. Genome Res (2001) 11.77
Discovery of previously unidentified genomic disorders from the duplication architecture of the human genome. Nat Genet (2006) 10.36
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
Holt-Oram syndrome is caused by mutations in TBX5, a member of the Brachyury (T) gene family. Nat Genet (1997) 4.92
Role of TBX1 in human del22q11.2 syndrome. Lancet (2003) 4.45
Mutations in human TBX3 alter limb, apocrine and genital development in ulnar-mammary syndrome. Nat Genet (1997) 3.91
Duplication hotspots, rare genomic disorders, and common disease. Curr Opin Genet Dev (2009) 2.96
Molecular mechanisms for constitutional chromosomal rearrangements in humans. Annu Rev Genet (2000) 2.82
Discovery of a previously unrecognized microdeletion syndrome of 16p11.2-p12.2. Nat Genet (2007) 2.59
Genome architecture catalyzes nonrecurrent chromosomal rearrangements. Am J Hum Genet (2003) 2.59
Expanding the clinical phenotype of the 3q29 microdeletion syndrome and characterization of the reciprocal microduplication. Mol Cytogenet (2008) 2.59
Enhanced detection of clinically relevant genomic imbalances using a targeted plus whole genome oligonucleotide microarray. Genet Med (2008) 2.23
Tbx1 haploinsufficiency is linked to behavioral disorders in mice and humans: implications for 22q11 deletion syndrome. Proc Natl Acad Sci U S A (2006) 2.03
The T-box genes Tbx4 and Tbx5 regulate limb outgrowth and identity. Nature (1999) 2.01
Mutations in cardiac T-box factor gene TBX20 are associated with diverse cardiac pathologies, including defects of septation and valvulogenesis and cardiomyopathy. Am J Hum Genet (2007) 1.97
Cooperative action of Tbx2 and Nkx2.5 inhibits ANF expression in the atrioventricular canal: implications for cardiac chamber formation. Genes Dev (2002) 1.95
Identification of a previously unrecognized microdeletion syndrome of 16q11.2q12.2. Clin Genet (2008) 1.77
Tbx5 and Tbx4 genes determine the wing/leg identity of limb buds. Nature (1999) 1.68
Smith-Magenis syndrome. Eur J Hum Genet (2008) 1.67
Molecular characterization of de novo secondary trisomy 13. Am J Hum Genet (1994) 1.66
Evidence of a role for T-box genes in the evolution of limb morphogenesis and the specification of forelimb/hindlimb identity. Mech Dev (1996) 1.56
Human TBX1 missense mutations cause gain of function resulting in the same phenotype as 22q11.2 deletions. Am J Hum Genet (2007) 1.51
Redefined genomic architecture in 15q24 directed by patient deletion/duplication breakpoint mapping. Hum Genet (2009) 1.46
Segmental duplications mediate novel, clinically relevant chromosome rearrangements. Hum Mol Genet (2009) 1.44
Isolation and characterization of a gene from the DiGeorge chromosomal region homologous to the mouse Tbx1 gene. Genomics (1997) 1.33
Mutations in the human TBX4 gene cause small patella syndrome. Am J Hum Genet (2004) 1.31
Small patella syndrome: a bone dysplasia to recognize and differentiate from the nail-patella syndrome. Pediatr Radiol (1997) 1.31
Tbx Genes Specify Posterior Digit Identity through Shh and BMP Signaling. Dev Cell (2004) 1.26
Genetic and developmental bases of serial homology in vertebrate limb evolution. Development (2000) 1.24
Tbx5 and Tbx4 are not sufficient to determine limb-specific morphologies but have common roles in initiating limb outgrowth. Dev Cell (2005) 1.23
Tbx4 is not required for hindlimb identity or post-bud hindlimb outgrowth. Development (2007) 1.21
Involvement of T-box genes Tbx2-Tbx5 in vertebrate limb specification and development. Development (1998) 1.19
Expression of T-box genes Tbx2-Tbx5 during chick organogenesis. Mech Dev (1998) 1.15
Tbx genes and limb identity in chick embryo development. Development (1998) 1.12
Hominoid chromosomal rearrangements on 17q map to complex regions of segmental duplication. Genome Biol (2008) 1.04
Fine mapping of a multiple sclerosis locus to 2.5 Mb on chromosome 17q22-q24. Hum Mol Genet (2002) 1.01
Conservation of linkage and evolution of developmental function within the Tbx2/3/4/5 subfamily of T-box genes: implications for the origin of vertebrate limbs. Dev Genes Evol (2008) 0.97
Segmental duplications flank the multiple sclerosis locus on chromosome 17q. Genome Res (2004) 0.88
The small patella syndrome: description of five cases from three families and examination of possible allelism with familial patella aplasia-hypoplasia and nail-patella syndrome. J Med Genet (2001) 0.87
Small patella syndrome. Am J Med Genet (1995) 0.86
Ischio-pubic-patellar hypoplasia: is it a new syndrome? Pediatr Radiol (1997) 0.86
Genomic and epigenomic landscapes of adult de novo acute myeloid leukemia. N Engl J Med (2013) 19.87
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
Whole-genome sequencing in a patient with Charcot-Marie-Tooth neuropathy. N Engl J Med (2010) 13.57
A copy number variation morbidity map of developmental delay. Nat Genet (2011) 9.58
Telomerase mutations in families with idiopathic pulmonary fibrosis. N Engl J Med (2007) 8.23
Genomic disorders: molecular mechanisms for rearrangements and conveyed phenotypes. PLoS Genet (2005) 7.60
A recurrent 16p12.1 microdeletion supports a two-hit model for severe developmental delay. Nat Genet (2010) 6.62
Comprehensive, Integrative Genomic Analysis of Diffuse Lower-Grade Gliomas. N Engl J Med (2015) 5.71
Chromosomal microarray versus karyotyping for prenatal diagnosis. N Engl J Med (2012) 4.97
Recurrent reciprocal 1q21.1 deletions and duplications associated with microcephaly or macrocephaly and developmental and behavioral abnormalities. Nat Genet (2008) 4.87
Phenotypic heterogeneity of genomic disorders and rare copy-number variants. N Engl J Med (2012) 4.36
Clinical and pathologic features of familial interstitial pneumonia. Am J Respir Crit Care Med (2005) 4.25
Short telomeres are a risk factor for idiopathic pulmonary fibrosis. Proc Natl Acad Sci U S A (2008) 3.86
Clinical implementation of chromosomal microarray analysis: summary of 2513 postnatal cases. PLoS One (2007) 3.53
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
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
Recurrent reciprocal 16p11.2 rearrangements associated with global developmental delay, behavioural problems, dysmorphism, epilepsy, and abnormal head size. J Med Genet (2009) 3.33
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
Sequencing chromosomal abnormalities reveals neurodevelopmental loci that confer risk across diagnostic boundaries. Cell (2012) 3.21
Human chromosome 7: DNA sequence and biology. Science (2003) 3.02
Microduplication 22q11.2, an emerging syndrome: clinical, cytogenetic, and molecular analysis of thirteen patients. Am J Hum Genet (2003) 3.01
Detection of clinically relevant exonic copy-number changes by array CGH. Hum Mutat (2010) 2.93
Integrating 5-hydroxymethylcytosine into the epigenomic landscape of human embryonic stem cells. PLoS Genet (2011) 2.87
Estimates of penetrance for recurrent pathogenic copy-number variations. Genet Med (2012) 2.86
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
Evidence-based path to newborn screening for Duchenne muscular dystrophy. Ann Neurol (2012) 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
Mutant chromatin remodeling protein SMARCAL1 causes Schimke immuno-osseous dysplasia. Nat Genet (2002) 2.64
Rare deletions at 16p13.11 predispose to a diverse spectrum of sporadic epilepsy syndromes. Am J Hum Genet (2010) 2.61
Discovery of a previously unrecognized microdeletion syndrome of 16p11.2-p12.2. Nat Genet (2007) 2.59
Genome architecture catalyzes nonrecurrent chromosomal rearrangements. Am J Hum Genet (2003) 2.59
Expanding the clinical phenotype of the 3q29 microdeletion syndrome and characterization of the reciprocal microduplication. Mol Cytogenet (2008) 2.59
A large and complex structural polymorphism at 16p12.1 underlies microdeletion disease risk. Nat Genet (2010) 2.57
Paternally inherited microdeletion at 15q11.2 confirms a significant role for the SNORD116 C/D box snoRNA cluster in Prader-Willi syndrome. Eur J Hum Genet (2010) 2.52
Complex rearrangements in patients with duplications of MECP2 can occur by fork stalling and template switching. Hum Mol Genet (2009) 2.50
Use of targeted array-based CGH for the clinical diagnosis of chromosomal imbalance: is less more? Am J Med Genet A (2005) 2.44
Evolution of human-specific neural SRGAP2 genes by incomplete segmental duplication. Cell (2012) 2.43
Targeted genomic microarray analysis for identification of chromosome abnormalities in 1500 consecutive clinical cases. J Pediatr (2006) 2.41
Molecular and clinical analyses of Greig cephalopolysyndactyly and Pallister-Hall syndromes: robust phenotype prediction from the type and position of GLI3 mutations. Am J Hum Genet (2005) 2.40
Newborn and carrier screening for spinal muscular atrophy. Am J Med Genet A (2010) 2.38
Microdeletions of 3q29 confer high risk for schizophrenia. Am J Hum Genet (2010) 2.38
The genetic architecture of Down syndrome phenotypes revealed by high-resolution analysis of human segmental trisomies. Proc Natl Acad Sci U S A (2009) 2.36
Ammonia control and neurocognitive outcome among urea cycle disorder patients treated with glycerol phenylbutyrate. Hepatology (2013) 2.32
Genetics and genomics of pulmonary arterial hypertension. J Am Coll Cardiol (2009) 2.31
Whole exome sequencing to identify a novel gene (caveolin-1) associated with human pulmonary arterial hypertension. Circ Cardiovasc Genet (2012) 2.16
Physical map of 1p36, placement of breakpoints in monosomy 1p36, and clinical characterization of the syndrome. Am J Hum Genet (2003) 2.15
Outcome modeling with CRLF2, IKZF1, JAK, and minimal residual disease in pediatric acute lymphoblastic leukemia: a Children's Oncology Group study. Blood (2012) 2.09
Microduplication and triplication of 22q11.2: a highly variable syndrome. Am J Hum Genet (2005) 2.05
Sustained alpha-sarcoglycan gene expression after gene transfer in limb-girdle muscular dystrophy, type 2D. Ann Neurol (2010) 2.02
Generalized arterial calcification of infancy and pseudoxanthoma elasticum can be caused by mutations in either ENPP1 or ABCC6. Am J Hum Genet (2011) 2.02
Genomic imbalances in neonates with birth defects: high detection rates by using chromosomal microarray analysis. Pediatrics (2008) 2.00
A small recurrent deletion within 15q13.3 is associated with a range of neurodevelopmental phenotypes. Nat Genet (2009) 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
Alveolar capillary dysplasia. Am J Respir Crit Care Med (2011) 1.92
Genes in a refined Smith-Magenis syndrome critical deletion interval on chromosome 17p11.2 and the syntenic region of the mouse. Genome Res (2002) 1.91
The identification of microdeletion syndromes and other chromosome abnormalities: cytogenetic methods of the past, new technologies for the future. Am J Med Genet C Semin Med Genet (2007) 1.91
A 360-kb interchromosomal duplication of the human HYDIN locus. Genomics (2006) 1.91
Genomic rearrangements resulting in PLP1 deletion occur by nonhomologous end joining and cause different dysmyelinating phenotypes in males and females. Am J Hum Genet (2002) 1.88
Position effects due to chromosome breakpoints that map approximately 900 Kb upstream and approximately 1.3 Mb downstream of SOX9 in two patients with campomelic dysplasia. Am J Hum Genet (2005) 1.87
Microarray-based CGH detects chromosomal mosaicism not revealed by conventional cytogenetics. Am J Med Genet A (2007) 1.85
Rare pathogenic microdeletions and tandem duplications are microhomology-mediated and stimulated by local genomic architecture. Hum Mol Genet (2009) 1.84
The discovery of microdeletion syndromes in the post-genomic era: review of the methodology and characterization of a new 1q41q42 microdeletion syndrome. Genet Med (2007) 1.84
Heterogeneous pulmonary phenotypes associated with mutations in the thyroid transcription factor gene NKX2-1. Chest (2013) 1.83
Detection of low-level mosaicism by array CGH in routine diagnostic specimens. Am J Med Genet A (2006) 1.83
Multilocus analysis of hypertension: a hierarchical approach. Hum Hered (2004) 1.82
DNA sequence of human chromosome 17 and analysis of rearrangement in the human lineage. Nature (2006) 1.81
High frequency of BMPR2 exonic deletions/duplications in familial pulmonary arterial hypertension. Am J Respir Crit Care Med (2006) 1.81
Application of array-based comparative genomic hybridization to clinical diagnostics. J Mol Diagn (2006) 1.79
A mixed epigenetic/genetic model for oligogenic inheritance of autism with a limited role for UBE3A. Am J Med Genet A (2004) 1.79
Human centromeric chromatin is a dynamic chromosomal domain that can spread over noncentromeric DNA. Proc Natl Acad Sci U S A (2006) 1.72
Exome sequencing followed by large-scale genotyping fails to identify single rare variants of large effect in idiopathic generalized epilepsy. Am J Hum Genet (2012) 1.72
De novo mutations in the actin genes ACTB and ACTG1 cause Baraitser-Winter syndrome. Nat Genet (2012) 1.70