Published in Nat Genet on March 07, 2004
Mechanisms of change in gene copy number. Nat Rev Genet (2009) 9.01
Detection of clinically relevant exonic copy-number changes by array CGH. Hum Mutat (2010) 2.93
De novo truncating mutations in ASXL3 are associated with a novel clinical phenotype with similarities to Bohring-Opitz syndrome. Genome Med (2013) 2.03
The molecular machinery of myelin gene transcription in Schwann cells. Glia (2008) 1.91
Mutations in SPATA7 cause Leber congenital amaurosis and juvenile retinitis pigmentosa. Am J Hum Genet (2009) 1.72
Multiple conserved regulatory elements with overlapping functions determine Sox10 expression in mouse embryogenesis. Nucleic Acids Res (2007) 1.68
Molecular mechanisms of inherited demyelinating neuropathies. Glia (2008) 1.68
PAX6 mutations: genotype-phenotype correlations. BMC Genet (2005) 1.65
Identification of neural crest and glial enhancers at the mouse Sox10 locus through transgenesis in zebrafish. PLoS Genet (2008) 1.60
PLP1-related inherited dysmyelinating disorders: Pelizaeus-Merzbacher disease and spastic paraplegia type 2. Neurogenetics (2004) 1.57
Mutations of RAI1, a PHD-containing protein, in nondeletion patients with Smith-Magenis syndrome. Hum Genet (2004) 1.57
Genome-wide association study identifies NRG1 as a susceptibility locus for Hirschsprung's disease. Proc Natl Acad Sci U S A (2009) 1.56
Deletions at the SOX10 gene locus cause Waardenburg syndrome types 2 and 4. Am J Hum Genet (2007) 1.54
Sox10 is required for Schwann cell identity and progression beyond the immature Schwann cell stage. J Cell Biol (2010) 1.48
Nonsense mutations in hERG cause a decrease in mutant mRNA transcripts by nonsense-mediated mRNA decay in human long-QT syndrome. Circulation (2007) 1.43
Sox proteins in melanocyte development and melanoma. Pigment Cell Melanoma Res (2010) 1.38
Functions of the nonsense-mediated mRNA decay pathway in Drosophila development. PLoS Genet (2006) 1.36
Comparison of nonsense-mediated mRNA decay efficiency in various murine tissues. BMC Genet (2008) 1.34
An evolutionarily conserved intronic region controls the spatiotemporal expression of the transcription factor Sox10. BMC Dev Biol (2008) 1.31
Sox10-Venus mice: a new tool for real-time labeling of neural crest lineage cells and oligodendrocytes. Mol Brain (2010) 1.27
The contribution of associated congenital anomalies in understanding Hirschsprung's disease. Pediatr Surg Int (2006) 1.22
The Yin and Yang of Sox proteins: Activation and repression in development and disease. J Neurosci Res (2009) 1.20
Distinct effects of allelic NFIX mutations on nonsense-mediated mRNA decay engender either a Sotos-like or a Marshall-Smith syndrome. Am J Hum Genet (2010) 1.18
Two molecular pathways (NMD and ERAD) contribute to a genetic epilepsy associated with the GABA(A) receptor GABRA1 PTC mutation, 975delC, S326fs328X. J Neurosci (2009) 1.15
Loss-of-function mutations in SOX10 cause Kallmann syndrome with deafness. Am J Hum Genet (2013) 1.14
Making sense of nonsense GABA(A) receptor mutations associated with genetic epilepsies. Trends Mol Med (2009) 1.13
The position of premature termination codons in the hepatocyte nuclear factor -1 beta gene determines susceptibility to nonsense-mediated decay. Hum Genet (2005) 1.13
Curcumin treatment abrogates endoplasmic reticulum retention and aggregation-induced apoptosis associated with neuropathy-causing myelin protein zero-truncating mutants. Am J Hum Genet (2005) 1.11
Neuropathy-associated Egr2 mutants disrupt cooperative activation of myelin protein zero by Egr2 and Sox10. Mol Cell Biol (2007) 1.10
Nonsense-mediated decay in genetic disease: friend or foe? Mutat Res Rev Mutat Res (2014) 1.10
Genetic background impacts developmental potential of enteric neural crest-derived progenitors in the Sox10Dom model of Hirschsprung disease. Hum Mol Genet (2010) 1.06
Interactions of Sox10 and Egr2 in myelin gene regulation. Neuron Glia Biol (2007) 1.04
Selective translational repression of truncated proteins from frameshift mutation-derived mRNAs in tumors. PLoS Biol (2007) 1.04
SOX10 directly modulates ERBB3 transcription via an intronic neural crest enhancer. BMC Dev Biol (2011) 1.03
Perturbation of thymocyte development in nonsense-mediated decay (NMD)-deficient mice. Proc Natl Acad Sci U S A (2011) 1.03
Genome-wide analysis of EGR2/SOX10 binding in myelinating peripheral nerve. Nucleic Acids Res (2012) 1.03
Dissecting disease inheritance modes in a three-dimensional protein network challenges the "guilt-by-association" principle. Am J Hum Genet (2013) 1.00
Interspecies difference in the regulation of melanocyte development by SOX10 and MITF. Proc Natl Acad Sci U S A (2006) 0.99
Mutations affecting GABAergic signaling in seizures and epilepsy. Pflugers Arch (2010) 0.99
Distribution and effects of nonsense polymorphisms in human genes. PLoS One (2008) 0.99
Mutations in the translated region of the lactase gene (LCT) underlie congenital lactase deficiency. Am J Hum Genet (2005) 0.97
Trafficking-deficient mutant GABRG2 subunit amount may modify epilepsy phenotype. Ann Neurol (2013) 0.95
To charge or not to charge: mechanistic insights into neuropathy-associated tRNA synthetase mutations. Curr Opin Genet Dev (2013) 0.94
Functional, histopathologic and natural history study of neuropathy associated with EGR2 mutations. Neurogenetics (2007) 0.93
Alu-mediated deletion of SOX10 regulatory elements in Waardenburg syndrome type 4. Eur J Hum Genet (2012) 0.93
The MADS box transcription factor MEF2C regulates melanocyte development and is a direct transcriptional target and partner of SOX10. Development (2011) 0.92
Proteasome-mediated degradation of integral inner nuclear membrane protein emerin in fibroblasts lacking A-type lamins. Biochem Biophys Res Commun (2006) 0.91
Differential Sox10 genomic occupancy in myelinating glia. Glia (2015) 0.90
Sarcomere mutation-specific expression patterns in human hypertrophic cardiomyopathy. Circ Cardiovasc Genet (2014) 0.90
Effects of Fam83h overexpression on enamel and dentine formation. Arch Oral Biol (2013) 0.90
Identification of differentially expressed genes in blood cells of narcolepsy patients. Sleep (2007) 0.90
Involvement of SOX10 in the pathogenesis of Hirschsprung disease: report of a truncating mutation in an isolated patient. J Mol Med (Berl) (2010) 0.90
Oligodendroglial and pan-neural crest expression of Cre recombinase directed by Sox10 enhancer. Genesis (2009) 0.89
ARID1B-mediated disorders: Mutations and possible mechanisms. Intractable Rare Dis Res (2015) 0.88
Expression of mutant JAGGED1 alleles in patients with Alagille syndrome. Hum Genet (2005) 0.87
The etiology and molecular genetics of human pigmentation disorders. Wiley Interdiscip Rev Dev Biol (2012) 0.87
Structural features in the Rous sarcoma virus RNA stability element are necessary for sensing the correct termination codon. Retrovirology (2010) 0.87
A zebrafish model for Waardenburg syndrome type IV reveals diverse roles for Sox10 in the otic vesicle. Dis Model Mech (2008) 0.87
SOX10 regulates expression of the SH3-domain kinase binding protein 1 (Sh3kbp1) locus in Schwann cells via an alternative promoter. Mol Cell Neurosci (2011) 0.86
Mutations in PCYT1A cause spondylometaphyseal dysplasia with cone-rod dystrophy. Am J Hum Genet (2014) 0.86
Carpenter syndrome: extended RAB23 mutation spectrum and analysis of nonsense-mediated mRNA decay. Hum Mutat (2011) 0.85
Structure, function, and genetics of lipoprotein (a). J Lipid Res (2016) 0.83
Frame disruptions in human mRNA transcripts, and their relationship with splicing and protein structures. BMC Genomics (2007) 0.83
LQT2 nonsense mutations generate trafficking defective NH2-terminally truncated channels by the reinitiation of translation. Am J Physiol Heart Circ Physiol (2013) 0.82
A rare myelin protein zero (MPZ) variant alters enhancer activity in vitro and in vivo. PLoS One (2010) 0.82
Functional analysis of Waardenburg syndrome-associated PAX3 and SOX10 mutations: report of a dominant-negative SOX10 mutation in Waardenburg syndrome type II. Hum Genet (2011) 0.82
Early LQT2 nonsense mutation generates N-terminally truncated hERG channels with altered gating properties by the reinitiation of translation. J Mol Cell Cardiol (2012) 0.82
Autosomal-dominant microtia linked to five tandem copies of a copy-number-variable region at chromosome 4p16. Am J Hum Genet (2008) 0.81
Molecular Study of Three Lebanese and Syrian Patients with Waardenburg Syndrome and Report of Novel Mutations in the EDNRB and MITF Genes. Mol Syndromol (2011) 0.81
Biallelic RFX6 mutations can cause childhood as well as neonatal onset diabetes mellitus. Eur J Hum Genet (2015) 0.81
Adult-onset degeneration of adipose tissue in mice deficient for the Sox8 transcription factor. J Lipid Res (2009) 0.80
Haplotype-specific modulation of a SOX10/CREB response element at the Charcot-Marie-Tooth disease type 4C locus SH3TC2. Hum Mol Genet (2014) 0.80
Molecular mechanism of rigid spine with muscular dystrophy type 1 caused by novel mutations of selenoprotein N gene. Neurogenetics (2006) 0.80
Knockout of TLR4 and TLR2 impair the nerve regeneration by delayed demyelination but not remyelination. J Biomed Sci (2013) 0.80
MicroRNA and transcriptional crosstalk in myelinating glia. Neurochem Int (2014) 0.80
U1 snRNA mis-binding: a new cause of CMT1B. Neurogenetics (2009) 0.80
Differential molecular and behavioural alterations in mouse models of GABRG2 haploinsufficiency versus dominant negative mutations associated with human epilepsy. Hum Mol Genet (2016) 0.79
A novel mutation in the endothelin B receptor gene in a moroccan family with shah-waardenburg syndrome. Mol Syndromol (2015) 0.78
Homozygous SALL1 mutation causes a novel multiple congenital anomaly-mental retardation syndrome. J Pediatr (2012) 0.78
The role of combined SNV and CNV burden in patients with distal symmetric polyneuropathy. Genet Med (2015) 0.78
Phenotypic similarities and differences in patients with a p.Met112Ile mutation in SOX10. Am J Med Genet A (2014) 0.78
Biallelic Loss of Proprioception-Related PIEZO2 Causes Muscular Atrophy with Perinatal Respiratory Distress, Arthrogryposis, and Scoliosis. Am J Hum Genet (2016) 0.78
Waardenburg syndrome type I: Dental phenotypes and genetic analysis of an extended family. Med Oral Patol Oral Cir Bucal (2016) 0.77
A splice mutation and mRNA decay of EXT2 provoke hereditary multiple exostoses. PLoS One (2014) 0.77
Absence of Dystrophin Related Protein-2 disrupts Cajal bands in a patient with Charcot-Marie-Tooth disease. Neuromuscul Disord (2015) 0.77
Inherited KIF21A and PAX6 gene mutations in a boy with congenital fibrosis of extraocular muscles and aniridia. BMC Med Genet (2013) 0.76
Screening of MITF and SOX10 regulatory regions in Waardenburg syndrome type 2. PLoS One (2012) 0.76
SOX10 regulates an alternative promoter at the Charcot-Marie-Tooth disease locus MTMR2. Hum Mol Genet (2016) 0.76
GPR143 Gene Mutations in Five Chinese Families with X-linked Congenital Nystagmus. Sci Rep (2015) 0.76
Differential Transcriptome Networks between IDO1-Knockout and Wild-Type Mice in Brain Microglia and Macrophages. PLoS One (2016) 0.75
Lessons learned from additional research analyses of unsolved clinical exome cases. Genome Med (2017) 0.75
HSP and deafness: Neurocristopathy caused by a novel mosaic SOX10 mutation. Neurol Genet (2017) 0.75
Truncating de novo mutations in the Krüppel-type zinc-finger gene ZNF148 in patients with corpus callosum defects, developmental delay, short stature, and dysmorphisms. Genome Med (2016) 0.75
Stringent comparative sequence analysis reveals SOX10 as a putative inhibitor of glial cell differentiation. BMC Genomics (2016) 0.75
Functional analysis of a nonstop mutation in MITF gene identified in a patient with Waardenburg syndrome type 2. J Hum Genet (2017) 0.75
A novel NF1 gene mutation in an Italian family with neurofibromatosis type 1. Childs Nerv Syst (2010) 0.75
Advances in understanding functional variations in the Hirschsprung disease spectrum (variant Hirschsprung disease). Pediatr Surg Int (2016) 0.75
A novel SOX10 mutation in a patient with PCWH who developed hypoxic-ischemic encephalopathy after E. coli sepsis. Eur J Pediatr (2011) 0.75
ARID1B alterations identify aggressive tumors in neuroblastoma. Oncotarget (2017) 0.75
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
The complete genome of an individual by massively parallel DNA sequencing. Nature (2008) 52.81
Clinical whole-exome sequencing for the diagnosis of mendelian disorders. N Engl J Med (2013) 15.85
Genome architecture, rearrangements and genomic disorders. Trends Genet (2002) 12.26
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
The nonsense-mediated decay RNA surveillance pathway. Annu Rev Biochem (2007) 8.94
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
A microhomology-mediated break-induced replication model for the origin of human copy number variation. PLoS Genet (2009) 6.39
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
Competing waves of oligodendrocytes in the forebrain and postnatal elimination of an embryonic lineage. Nat Neurosci (2005) 4.57
Mechanisms for human genomic rearrangements. Pathogenetics (2008) 4.54
Whole-genome sequencing for optimized patient management. Sci Transl Med (2011) 4.51
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De novo germline and postzygotic mutations in AKT3, PIK3R2 and PIK3CA cause a spectrum of related megalencephaly syndromes. Nat Genet (2012) 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
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
Clinical implementation of chromosomal microarray analysis: summary of 2513 postnatal cases. PLoS One (2007) 3.53
The Sox9 transcription factor determines glial fate choice in the developing spinal cord. Genes Dev (2003) 3.46
Microbial DNA typing by automated repetitive-sequence-based PCR. J Clin Microbiol (2005) 3.44
Development and validation of a CGH microarray for clinical cytogenetic diagnosis. Genet Med (2005) 3.39
Messenger RNA regulation: to translate or to degrade. EMBO J (2008) 3.38
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
Functional analysis of Sox8 and Sox9 during sex determination in the mouse. Development (2004) 3.25
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
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
Terminal differentiation of myelin-forming oligodendrocytes depends on the transcription factor Sox10. Genes Dev (2002) 2.98
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
Targeted DNA demethylation and activation of endogenous genes using programmable TALE-TET1 fusion proteins. Nat Biotechnol (2013) 2.89
Free radical scavenging properties of wheat extracts. J Agric Food Chem (2002) 2.84
Loss of BBS proteins causes anosmia in humans and defects in olfactory cilia structure and function in the mouse. Nat Genet (2004) 2.84
Increased MECP2 gene copy number as the result of genomic duplication in neurodevelopmentally delayed males. Genet Med (2006) 2.78
A necrotic uterus after a B-Lynch Suture: fertility sparing surgery. Aust N Z J Obstet Gynaecol (2013) 2.77
MFN2 mutation distribution and genotype/phenotype correlation in Charcot-Marie-Tooth type 2. Brain (2006) 2.77
Robust fluorescent detection of protein fatty-acylation with chemical reporters. J Am Chem Soc (2009) 2.75
Identification of a microRNA that activates gene expression by repressing nonsense-mediated RNA decay. Mol Cell (2011) 2.73
22q11.2 distal deletion: a recurrent genomic disorder distinct from DiGeorge syndrome and velocardiofacial syndrome. Am J Hum Genet (2008) 2.71
Mechanisms for recurrent and complex human genomic rearrangements. Curr Opin Genet Dev (2012) 2.67
Complex human chromosomal and genomic rearrangements. Trends Genet (2009) 2.66
Mutant chromatin remodeling protein SMARCAL1 causes Schimke immuno-osseous dysplasia. Nat Genet (2002) 2.64
Rhox: a new homeobox gene cluster. Cell (2005) 2.62
Genome architecture catalyzes nonrecurrent chromosomal rearrangements. Am J Hum Genet (2003) 2.59
Complex rearrangements in patients with duplications of MECP2 can occur by fork stalling and template switching. Hum Mol Genet (2009) 2.50
Increased LIS1 expression affects human and mouse brain development. Nat Genet (2009) 2.45
Identification of a novel Bardet-Biedl syndrome protein, BBS7, that shares structural features with BBS1 and BBS2. Am J Hum Genet (2003) 2.37
Combretastatin A4 phosphate has tumor antivascular activity in rat and man as demonstrated by dynamic magnetic resonance imaging. J Clin Oncol (2003) 2.35
A multi-institutional analysis of the socioeconomic determinants of breast reconstruction: a study of the National Comprehensive Cancer Network. Ann Surg (2006) 2.29
Volunteering and depression: the role of psychological and social resources in different age groups. Soc Sci Med (2003) 2.26
Spastic paraplegia type 2 associated with axonal neuropathy and apparent PLP1 position effect. Ann Neurol (2006) 2.25
Genome structural variation and sporadic disease traits. Nat Genet (2006) 2.23
Gene targeting reveals a widespread role for the high-mobility-group transcription factor Sox11 in tissue remodeling. Mol Cell Biol (2004) 2.23
Discovery of brainwide neural-behavioral maps via multiscale unsupervised structure learning. Science (2014) 2.17
Autism and other neuropsychiatric symptoms are prevalent in individuals with MeCP2 duplication syndrome. Ann Neurol (2009) 2.07
Genetic interaction of BBS1 mutations with alleles at other BBS loci can result in non-Mendelian Bardet-Biedl syndrome. Am J Hum Genet (2003) 2.04
An alternative branch of the nonsense-mediated decay pathway. EMBO J (2007) 2.01
Genomic imbalances in neonates with birth defects: high detection rates by using chromosomal microarray analysis. Pediatrics (2008) 2.00
A synaptic vesicle-associated Ca2+ channel promotes endocytosis and couples exocytosis to endocytosis. Cell (2009) 1.98
Speech delay and autism spectrum behaviors are frequently associated with duplication of the 7q11.23 Williams-Beuren syndrome region. Genet Med (2007) 1.98
Compound heterozygosity for loss-of-function lysyl-tRNA synthetase mutations in a patient with peripheral neuropathy. Am J Hum Genet (2010) 1.96
SOX9 is expressed in human fetal prostate epithelium and enhances prostate cancer invasion. Cancer Res (2008) 1.96
Inverted genomic segments and complex triplication rearrangements are mediated by inverted repeats in the human genome. Nat Genet (2011) 1.93
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
A combinatorial semaphorin code instructs the initial steps of sensory circuit assembly in the Drosophila CNS. Neuron (2011) 1.90
Molecular-evolutionary mechanisms for genomic disorders. Curr Opin Genet Dev (2002) 1.90
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
A chromosomal rearrangement hotspot can be identified from population genetic variation and is coincident with a hotspot for allelic recombination. Am J Hum Genet (2006) 1.86
Genetic proof of unequal meiotic crossovers in reciprocal deletion and duplication of 17p11.2. Am J Hum Genet (2002) 1.86
Disruption of ROBO2 is associated with urinary tract anomalies and confers risk of vesicoureteral reflux. Am J Hum Genet (2007) 1.85
Microarray-based CGH detects chromosomal mosaicism not revealed by conventional cytogenetics. Am J Med Genet A (2007) 1.85
The Runx1/AML1 transcription factor selectively regulates development and survival of TrkA nociceptive sensory neurons. Nat Neurosci (2006) 1.83
DNA sequence of human chromosome 17 and analysis of rearrangement in the human lineage. Nature (2006) 1.81
Reciprocal crossovers and a positional preference for strand exchange in recombination events resulting in deletion or duplication of chromosome 17p11.2. Am J Hum Genet (2003) 1.81
Accelerated production of antigen-specific T cells for preclinical and clinical applications using gas-permeable rapid expansion cultureware (G-Rex). J Immunother (2010) 1.81
SoxD proteins influence multiple stages of oligodendrocyte development and modulate SoxE protein function. Dev Cell (2006) 1.79
Microduplications of 22q11.2 are frequently inherited and are associated with variable phenotypes. Genet Med (2008) 1.78
Clinical use of array comparative genomic hybridization (aCGH) for prenatal diagnosis in 300 cases. Prenat Diagn (2009) 1.78
Inhibition of neural crest migration underlies craniofacial dysmorphology and Hirschsprung's disease in Bardet-Biedl syndrome. Proc Natl Acad Sci U S A (2008) 1.78
Serial segmental duplications during primate evolution result in complex human genome architecture. Genome Res (2004) 1.78
Near-roadway pollution and childhood asthma: implications for developing "win-win" compact urban development and clean vehicle strategies. Environ Health Perspect (2012) 1.73
Mutations in SPATA7 cause Leber congenital amaurosis and juvenile retinitis pigmentosa. Am J Hum Genet (2009) 1.72
Structure and evolution of the Smith-Magenis syndrome repeat gene clusters, SMS-REPs. Genome Res (2002) 1.70
The breakpoint region of the most common isochromosome, i(17q), in human neoplasia is characterized by a complex genomic architecture with large, palindromic, low-copy repeats. Am J Hum Genet (2003) 1.70
Organogenesis relies on SoxC transcription factors for the survival of neural and mesenchymal progenitors. Nat Commun (2010) 1.69
Multiple conserved regulatory elements with overlapping functions determine Sox10 expression in mouse embryogenesis. Nucleic Acids Res (2007) 1.68