Published in Am J Hum Genet on May 08, 2003
Control of cell fate and differentiation by Sry-related high-mobility-group box (Sox) transcription factors. Int J Biochem Cell Biol (2007) 2.78
Integrin-alpha9 is required for fibronectin matrix assembly during lymphatic valve morphogenesis. Dev Cell (2009) 2.41
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Transcriptional control of endothelial cell development. Dev Cell (2009) 2.12
Current views on the function of the lymphatic vasculature in health and disease. Genes Dev (2010) 1.84
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Mutations in CCBE1 cause generalized lymph vessel dysplasia in humans. Nat Genet (2009) 1.59
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Biomedicine and diseases: the Klippel-Trenaunay syndrome, vascular anomalies and vascular morphogenesis. Cell Mol Life Sci (2005) 1.37
Connexin37 and Connexin43 deficiencies in mice disrupt lymphatic valve development and result in lymphatic disorders including lymphedema and chylothorax. Dev Biol (2011) 1.35
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Shh maintains dermal papilla identity and hair morphogenesis via a Noggin-Shh regulatory loop. Genes Dev (2012) 1.33
Linkage and sequence analysis indicate that CCBE1 is mutated in recessively inherited generalised lymphatic dysplasia. Hum Genet (2009) 1.28
Mutant GlialCAM causes megalencephalic leukoencephalopathy with subcortical cysts, benign familial macrocephaly, and macrocephaly with retardation and autism. Am J Hum Genet (2011) 1.24
Genetics of lymphatic anomalies. J Clin Invest (2014) 1.23
From germline towards somatic mutations in the pathophysiology of vascular anomalies. Hum Mol Genet (2009) 1.23
The Yin and Yang of Sox proteins: Activation and repression in development and disease. J Neurosci Res (2009) 1.20
GJC2 missense mutations cause human lymphedema. Am J Hum Genet (2010) 1.17
Congenital, low penetrance lymphedema of lower limbs maps to chromosome 6q16.2-q22.1 in an inbred Pakistani family. Hum Genet (2008) 1.16
Emilin1 deficiency causes structural and functional defects of lymphatic vasculature. Mol Cell Biol (2008) 1.14
Sox17 is indispensable for acquisition and maintenance of arterial identity. Nat Commun (2013) 1.12
Milroy disease and the VEGFR-3 mutation phenotype. J Med Genet (2005) 1.10
Developmental and pathological lymphangiogenesis: from models to human disease. Histochem Cell Biol (2008) 1.07
New developments in clinical aspects of lymphatic disease. J Clin Invest (2014) 1.04
Lymphatic and angiogenic candidate genes predict the development of secondary lymphedema following breast cancer surgery. PLoS One (2013) 1.02
Protein tyrosine phosphatase PTPN14 is a regulator of lymphatic function and choanal development in humans. Am J Hum Genet (2010) 0.99
Divergence of zebrafish and mouse lymphatic cell fate specification pathways. Development (2014) 0.98
Gastrointestinal lymphatics in health and disease. Pathophysiology (2010) 0.98
Tumor lymphangiogenesis as a potential therapeutic target. J Oncol (2012) 0.97
The new era of the lymphatic system: no longer secondary to the blood vascular system. Cold Spring Harb Perspect Med (2012) 0.97
Possible genetic predisposition to lymphedema after breast cancer. Lymphat Res Biol (2012) 0.96
Elevated expression of VEGFR-3 in lymphatic endothelial cells from lymphangiomas. BMC Cancer (2007) 0.96
A genotype-first approach for the molecular and clinical characterization of uncommon de novo microdeletion of 20q13.33. PLoS One (2010) 0.95
AKT hyper-phosphorylation associated with PI3K mutations in lymphatic endothelial cells from a patient with lymphatic malformation. Angiogenesis (2014) 0.94
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Vascular anomalies: from genetics toward models for therapeutic trials. Cold Spring Harb Perspect Med (2012) 0.91
Vascular endothelial growth factor receptor-2 promotes the development of the lymphatic vasculature. PLoS One (2013) 0.91
Trps1 activates a network of secreted Wnt inhibitors and transcription factors crucial to vibrissa follicle morphogenesis. Development (2011) 0.90
SoxF factors and Notch regulate nr2f2 gene expression during venous differentiation in zebrafish. Dev Biol (2014) 0.89
Albumin-binding domain conjugate for near-infrared fluorescence lymphatic imaging. Mol Imaging Biol (2012) 0.89
Connexin 47 mutations increase risk for secondary lymphedema following breast cancer treatment. Clin Cancer Res (2012) 0.89
Mutations in the VEGFR3 signaling pathway explain 36% of familial lymphedema. Mol Syndromol (2013) 0.86
To grow or not to grow: hair morphogenesis and human genetic hair disorders. Semin Cell Dev Biol (2013) 0.86
Bone morphogenetic protein 2 signaling negatively modulates lymphatic development in vertebrate embryos. Circ Res (2013) 0.86
Personalized Therapy for Generalized Lymphatic Anomaly/Gorham-Stout Disease With a Combination of Sunitinib and Taxol. J Pediatr Hematol Oncol (2015) 0.84
Evidence for SH2 domain-containing 5'-inositol phosphatase-2 (SHIP2) contributing to a lymphatic dysfunction. PLoS One (2014) 0.84
Sox7, Sox17, and Sox18 Cooperatively Regulate Vascular Development in the Mouse Retina. PLoS One (2015) 0.83
Update on the molecular genetics of vascular anomalies. Lymphat Res Biol (2005) 0.82
Early growth response protein 1 acts as an activator of SOX18 promoter. Exp Mol Med (2010) 0.82
The transcription factor SOX18 regulates the expression of matrix metalloproteinase 7 and guidance molecules in human endothelial cells. PLoS One (2012) 0.81
mafba is a downstream transcriptional effector of Vegfc signaling essential for embryonic lymphangiogenesis in zebrafish. Genes Dev (2015) 0.80
Lymphatic endothelial differentiation: start out with Sox--carry on with Prox. Genome Biol (2008) 0.80
Cytoplasmic plaque formation in hemidesmosome development is dependent on SoxF transcription factor function. PLoS One (2012) 0.79
When it comes to blocking lymphatics, it is all a question of time. Am J Pathol (2006) 0.79
No evidence of locus heterogeneity in familial microcephaly with or without chorioretinopathy, lymphedema, or mental retardation syndrome. Orphanet J Rare Dis (2015) 0.78
Lymphatic fate specification: an ERK-controlled transcriptional program. Microvasc Res (2014) 0.78
Sox17 is required for normal pulmonary vascular morphogenesis. Dev Biol (2014) 0.78
Understanding lymphangiogenesis in knockout models, the cornea, and ocular diseases for the development of therapeutic interventions. Surv Ophthalmol (2015) 0.77
Studies on Axenfeld-Rieger syndrome patients and mice reveal Foxc1's role in corneal neovascularization. Proc Natl Acad Sci U S A (2012) 0.76
Blood and lymphatic vessel formation. Cold Spring Harb Perspect Biol (2015) 0.75
SOX7-enforced expression promotes the expansion of adult blood progenitors and blocks B-cell development. Open Biol (2016) 0.75
Methylome analysis for spina bifida shows SOX18 hypomethylation as a risk factor with evidence for a complex (epi)genetic interplay to affect neural tube development. Clin Epigenetics (2016) 0.75
Taking aim at Sox18. Elife (2017) 0.75
From blue jeans to blue genes. J Craniofac Surg (2009) 0.75
Sox18 preserves the pulmonary endothelial barrier under conditions of increased shear stress. J Cell Physiol (2014) 0.75
A Novel Mutation in the FOXC2 Gene: A Heterozygous Insertion of Adenosine (c.867insA) in a Family with Lymphoedema of Lower Limbs without Distichiasis. Radiol Oncol (2017) 0.75
beta-Catenin controls hair follicle morphogenesis and stem cell differentiation in the skin. Cell (2001) 8.41
De Novo hair follicle morphogenesis and hair tumors in mice expressing a truncated beta-catenin in skin. Cell (1998) 7.95
Induction of tumor lymphangiogenesis by VEGF-C promotes breast cancer metastasis. Nat Med (2001) 7.78
Prox1 function is required for the development of the murine lymphatic system. Cell (1999) 7.57
Autosomal sex reversal and campomelic dysplasia are caused by mutations in and around the SRY-related gene SOX9. Cell (1994) 7.39
Campomelic dysplasia and autosomal sex reversal caused by mutations in an SRY-related gene. Nature (1994) 7.30
VEGF-D promotes the metastatic spread of tumor cells via the lymphatics. Nat Med (2001) 5.52
Mutations in SOX2 cause anophthalmia. Nat Genet (2003) 5.03
From head to toes: the multiple facets of Sox proteins. Nucleic Acids Res (1999) 4.64
SOX10 mutations in patients with Waardenburg-Hirschsprung disease. Nat Genet (1998) 3.82
Missense mutations interfere with VEGFR-3 signalling in primary lymphoedema. Nat Genet (2000) 3.66
Suppression of tumor lymphangiogenesis and lymph node metastasis by blocking vascular endothelial growth factor receptor 3 signaling. J Natl Cancer Inst (2002) 3.44
Twenty pairs of sox: extent, homology, and nomenclature of the mouse and human sox transcription factor gene families. Dev Cell (2002) 3.39
Molecular basis of human 46X,Y sex reversal revealed from the three-dimensional solution structure of the human SRY-DNA complex. Cell (1995) 3.35
Genetic evidence equating SRY and the testis-determining factor. Nature (1990) 3.22
Mutations in FOXC2 (MFH-1), a forkhead family transcription factor, are responsible for the hereditary lymphedema-distichiasis syndrome. Am J Hum Genet (2000) 3.16
Regulation of Wnt signaling by Sox proteins: XSox17 alpha/beta and XSox3 physically interact with beta-catenin. Mol Cell (1999) 3.15
A model for gene therapy of human hereditary lymphedema. Proc Natl Acad Sci U S A (2001) 2.88
Matching SOX: partner proteins and co-factors of the SOX family of transcriptional regulators. Curr Opin Genet Dev (2002) 2.24
A human XY female with a frame shift mutation in the candidate testis-determining gene SRY. Nature (1990) 2.20
Congenital hereditary lymphedema caused by a mutation that inactivates VEGFR3 tyrosine kinase. Am J Hum Genet (2000) 1.86
SOX7 transcription factor: sequence, chromosomal localisation, expression, transactivation and interference with Wnt signalling. Nucleic Acids Res (2001) 1.71
Truncating mutations in FOXC2 cause multiple lymphedema syndromes. Hum Mol Genet (2001) 1.53
Mutations in Sox18 underlie cardiovascular and hair follicle defects in ragged mice. Nat Genet (2000) 1.50
A gene for inherited cutaneous venous anomalies ("glomangiomas") localizes to chromosome 1p21-22. Am J Hum Genet (1999) 1.37
Juvenile myelomonocytic leukemia and Noonan syndrome. J Pediatr Hematol Oncol (2000) 1.30
Mice null for sox18 are viable and display a mild coat defect. Mol Cell Biol (2000) 1.24
From angiogenesis to lymphangiogenesis. Nat Med (2001) 1.13
VEGFR3 gene structure, regulatory region, and sequence polymorphisms. FASEB J (2001) 1.09
Mapping of the locus for cholestasis-lymphedema syndrome (Aagenaes syndrome) to a 6.6-cM interval on chromosome 15q. Am J Hum Genet (2000) 1.09
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Breakpoint analysis of Turner patients with partial Xp deletions: implications for the lymphoedema gene location. J Med Genet (2001) 0.97
Cloning and functional analysis of the Sry-related HMG box gene, Sox18. Gene (2001) 0.88
Structure, mapping, and expression of human SOX18. Mamm Genome (2000) 0.81
Hypotrichosis, lymphedema of the legs and acral telangiectasias--new syndrome? Eur J Dermatol (2001) 0.80
Lymphatic abnormalities in fetuses with posterior cervical cystic hygroma. Am J Med Genet (1989) 0.80
Analysis of genetic control of chylous ascites in ragged mice. Heredity (Edinb) (1979) 0.79
Structural variation of chromosomes in autism spectrum disorder. Am J Hum Genet (2008) 15.51
Mutations in genes encoding ribonuclease H2 subunits cause Aicardi-Goutières syndrome and mimic congenital viral brain infection. Nat Genet (2006) 5.26
X-linked mental retardation and autism are associated with a mutation in the NLGN4 gene, a member of the neuroligin family. Am J Hum Genet (2004) 5.15
Photodynamic therapy versus topical imiquimod versus topical fluorouracil for treatment of superficial basal-cell carcinoma: a single blind, non-inferiority, randomised controlled trial. Lancet Oncol (2013) 4.75
Surgical excision versus Mohs' micrographic surgery for primary and recurrent basal-cell carcinoma of the face: a prospective randomised controlled trial with 5-years' follow-up. Lancet Oncol (2008) 4.60
DMP1 mutations in autosomal recessive hypophosphatemia implicate a bone matrix protein in the regulation of phosphate homeostasis. Nat Genet (2006) 4.49
Mutations in the pericentrin (PCNT) gene cause primordial dwarfism. Science (2008) 4.04
Suppressed NFAT-dependent VEGFR1 expression and constitutive VEGFR2 signaling in infantile hemangioma. Nat Med (2008) 3.98
Comprehensive analysis of the gene encoding filaggrin uncovers prevalent and rare mutations in ichthyosis vulgaris and atopic eczema. Nat Genet (2007) 3.94
Duplication of the MECP2 region is a frequent cause of severe mental retardation and progressive neurological symptoms in males. Am J Hum Genet (2005) 3.87
Chromosome instability is common in human cleavage-stage embryos. Nat Med (2009) 3.85
Pharmacogenetics of morphine poisoning in a breastfed neonate of a codeine-prescribed mother. Lancet (2006) 3.72
Mutations in the O-mannosyltransferase gene POMT1 give rise to the severe neuronal migration disorder Walker-Warburg syndrome. Am J Hum Genet (2002) 3.09
Impaired glycosylation and cutis laxa caused by mutations in the vesicular H+-ATPase subunit ATP6V0A2. Nat Genet (2007) 3.02
Human chromosome 7: DNA sequence and biology. Science (2003) 3.02
Mutations in the JARID1C gene, which is involved in transcriptional regulation and chromatin remodeling, cause X-linked mental retardation. Am J Hum Genet (2004) 2.99
Mutations in the human ortholog of Aristaless cause X-linked mental retardation and epilepsy. Nat Genet (2002) 2.86
Somatic mosaic IDH1 and IDH2 mutations are associated with enchondroma and spindle cell hemangioma in Ollier disease and Maffucci syndrome. Nat Genet (2011) 2.74
Mutations in STRA6 cause a broad spectrum of malformations including anophthalmia, congenital heart defects, diaphragmatic hernia, alveolar capillary dysplasia, lung hypoplasia, and mental retardation. Am J Hum Genet (2007) 2.74
Expansion of the fragile X CGG repeat in females with premutation or intermediate alleles. Am J Hum Genet (2003) 2.71
Multiple phenotypes in phosphoglucomutase 1 deficiency. N Engl J Med (2014) 2.62
Capillary malformation-arteriovenous malformation, a new clinical and genetic disorder caused by RASA1 mutations. Am J Hum Genet (2003) 2.56
Germline loss-of-function mutations in SPRED1 cause a neurofibromatosis 1-like phenotype. Nat Genet (2007) 2.55
Lipoid proteinosis maps to 1q21 and is caused by mutations in the extracellular matrix protein 1 gene (ECM1). Hum Mol Genet (2002) 2.41
Submicroscopic chromosomal imbalances detected by array-CGH are a frequent cause of congenital heart defects in selected patients. Eur Heart J (2007) 2.39
Zinc metalloproteinase, ZMPSTE24, is mutated in mandibuloacral dysplasia. Hum Mol Genet (2003) 2.36
Discordant KCNQ1OT1 imprinting in sets of monozygotic twins discordant for Beckwith-Wiedemann syndrome. Hum Mol Genet (2002) 2.33
Association of localized intravascular coagulopathy with venous malformations. Arch Dermatol (2008) 2.31
Loss-of-function mutations in euchromatin histone methyl transferase 1 (EHMT1) cause the 9q34 subtelomeric deletion syndrome. Am J Hum Genet (2006) 2.31
ARX, a novel Prd-class-homeobox gene highly expressed in the telencephalon, is mutated in X-linked mental retardation. Hum Mol Genet (2002) 2.30
Large spectrum of lissencephaly and pachygyria phenotypes resulting from de novo missense mutations in tubulin alpha 1A (TUBA1A). Hum Mutat (2007) 2.24
A gene encoding a putative FAD-dependent L-2-hydroxyglutarate dehydrogenase is mutated in L-2-hydroxyglutaric aciduria. Proc Natl Acad Sci U S A (2004) 2.19
Congenital disorders of glycosylation: a rapidly expanding disease family. Annu Rev Genomics Hum Genet (2007) 2.12
RASA1: variable phenotype with capillary and arteriovenous malformations. Curr Opin Genet Dev (2005) 2.10
Molecular karyotyping: array CGH quality criteria for constitutional genetic diagnosis. J Histochem Cytochem (2005) 2.05
PhenoTips: patient phenotyping software for clinical and research use. Hum Mutat (2013) 2.04
Parkes Weber syndrome, vein of Galen aneurysmal malformation, and other fast-flow vascular anomalies are caused by RASA1 mutations. Hum Mutat (2008) 2.00
Legal uncertainty in the area of genetic diagnostic testing. Nat Biotechnol (2009) 2.00
Elements of morphology: standard terminology for the lips, mouth, and oral region. Am J Med Genet A (2009) 1.96
Somatic mutations in angiopoietin receptor gene TEK cause solitary and multiple sporadic venous malformations. Nat Genet (2008) 1.95
Contribution of global rare copy-number variants to the risk of sporadic congenital heart disease. Am J Hum Genet (2012) 1.92
Mutations in ISPD cause Walker-Warburg syndrome and defective glycosylation of α-dystroglycan. Nat Genet (2012) 1.90
Models for facilitating access to patents on genetic inventions. Nat Rev Genet (2006) 1.89
Protein-truncating mutations in ASPM cause variable reduction in brain size. Am J Hum Genet (2003) 1.89
Diagnostic guidelines for high-resolution melting curve (HRM) analysis: an interlaboratory validation of BRCA1 mutation scanning using the 96-well LightScanner. Hum Mutat (2009) 1.84
Cohen syndrome is caused by mutations in a novel gene, COH1, encoding a transmembrane protein with a presumed role in vesicle-mediated sorting and intracellular protein transport. Am J Hum Genet (2003) 1.83
Safety of codeine during breastfeeding: fatal morphine poisoning in the breastfed neonate of a mother prescribed codeine. Can Fam Physician (2007) 1.83
Oligosaccharyltransferase-subunit mutations in nonsyndromic mental retardation. Am J Hum Genet (2008) 1.82
To tell or not to tell? A systematic review of ethical reflections on incidental findings arising in genetics contexts. Eur J Hum Genet (2012) 1.82
Mutations in CTC1, encoding conserved telomere maintenance component 1, cause Coats plus. Nat Genet (2012) 1.82
Nonrecurrent MECP2 duplications mediated by genomic architecture-driven DNA breaks and break-induced replication repair. Genome Res (2008) 1.81
Submicroscopic duplications of the hydroxysteroid dehydrogenase HSD17B10 and the E3 ubiquitin ligase HUWE1 are associated with mental retardation. Am J Hum Genet (2008) 1.80
Detection of genomic copy number changes in patients with idiopathic mental retardation by high-resolution X-array-CGH: important role for increased gene dosage of XLMR genes. Hum Mutat (2007) 1.79
Mutations in the X-linked cyclin-dependent kinase-like 5 (CDKL5/STK9) gene are associated with severe neurodevelopmental retardation. Am J Hum Genet (2004) 1.78
Global distribution of the most prevalent deletions causing hypotonia-cystinuria syndrome. Eur J Hum Genet (2007) 1.78
Single-cell chromosomal imbalances detection by array CGH. Nucleic Acids Res (2006) 1.78
Glomuvenous malformation (glomangioma) and venous malformation: distinct clinicopathologic and genetic entities. Arch Dermatol (2004) 1.73
Heterozygous missense mutations in SMARCA2 cause Nicolaides-Baraitser syndrome. Nat Genet (2012) 1.70
FOXL2 and BPES: mutational hotspots, phenotypic variability, and revision of the genotype-phenotype correlation. Am J Hum Genet (2003) 1.70
De novo mutations in the actin genes ACTB and ACTG1 cause Baraitser-Winter syndrome. Nat Genet (2012) 1.70
A standardized framework for the validation and verification of clinical molecular genetic tests. Eur J Hum Genet (2010) 1.70
Genetic causes of vascular malformations. Hum Mol Genet (2007) 1.69
Prader-Willi syndrome: causes of death in an international series of 27 cases. Am J Med Genet A (2004) 1.69
Mutation frequencies of X-linked mental retardation genes in families from the EuroMRX consortium. Hum Mutat (2007) 1.68
Mutations in a novel factor, glomulin, are responsible for glomuvenous malformations ("glomangiomas"). Am J Hum Genet (2002) 1.66
Interferon regulatory factor-6: a gene predisposing to isolated cleft lip with or without cleft palate in the Belgian population. Eur J Hum Genet (2005) 1.62
Mutations in the polyglutamine binding protein 1 gene cause X-linked mental retardation. Nat Genet (2003) 1.61
Current consequences of prenatal diagnosis of congenital diaphragmatic hernia. J Pediatr Surg (2006) 1.60
KITLG mutations cause familial progressive hyper- and hypopigmentation. J Invest Dermatol (2011) 1.59
Deficiency of tenascin-X causes abnormalities in dermal elastic fiber morphology. J Invest Dermatol (2004) 1.58
Nail-patella syndrome, infantile nephrotic syndrome: complete remission with antiproteinuric treatment. Nephrol Dial Transplant (2009) 1.57
Conserved oligomeric Golgi complex subunit 1 deficiency reveals a previously uncharacterized congenital disorder of glycosylation type II. Proc Natl Acad Sci U S A (2006) 1.56
High prevalence of SLC6A8 deficiency in X-linked mental retardation. Am J Hum Genet (2004) 1.55
Connection between elastin haploinsufficiency and increased cell proliferation in patients with supravalvular aortic stenosis and Williams-Beuren syndrome. Am J Hum Genet (2002) 1.54
Secondary variants--in defense of a more fitting term in the incidental findings debate. Eur J Hum Genet (2013) 1.53
Mutations in the RNA exosome component gene EXOSC3 cause pontocerebellar hypoplasia and spinal motor neuron degeneration. Nat Genet (2012) 1.52
Requirement of VPS33B, a member of the Sec1/Munc18 protein family, in megakaryocyte and platelet alpha-granule biogenesis. Blood (2005) 1.52
Definition of a critical region on chromosome 18 for congenital aural atresia by arrayCGH. Am J Hum Genet (2003) 1.52
Mutations in the ZNF41 gene are associated with cognitive deficits: identification of a new candidate for X-linked mental retardation. Am J Hum Genet (2003) 1.52
Prenatal diagnosis of trisomy 17 mosaicism. Prenat Diagn (2007) 1.51
Use of atypical antipsychotics during pregnancy and the risk of neural tube defects in infants. Am J Psychiatry (2002) 1.51
Altered gene expression and methylation of the human chromosome 11 imprinted region in small for gestational age (SGA) placentae. Dev Biol (2008) 1.51
Disruption of an EHMT1-associated chromatin-modification module causes intellectual disability. Am J Hum Genet (2012) 1.51
CDG nomenclature: time for a change! Biochim Biophys Acta (2009) 1.49
Williams syndrome in a preterm infant with phenotype of Alagille syndrome. Am J Med Genet A (2008) 1.49
Screening for FMR-1 premutations in 122 older Flemish males presenting with ataxia. Eur J Hum Genet (2005) 1.49
Expanded CTG repeat demarcates a boundary for abnormal CpG methylation in myotonic dystrophy patient tissues. Hum Mol Genet (2010) 1.46
Whole-genome analysis reveals that mutations in inositol polyphosphate phosphatase-like 1 cause opsismodysplasia. Am J Hum Genet (2012) 1.46
Mutations in EZH2 cause Weaver syndrome. Am J Hum Genet (2011) 1.46
Mutations in CEP57 cause mosaic variegated aneuploidy syndrome. Nat Genet (2011) 1.46
Transcription factor SOX3 is involved in X-linked mental retardation with growth hormone deficiency. Am J Hum Genet (2002) 1.45
Patenting and licensing in genetic testing: ethical, legal, and social issues. Eur J Hum Genet (2008) 1.45
Mutations in the transmembrane natriuretic peptide receptor NPR-B impair skeletal growth and cause acromesomelic dysplasia, type Maroteaux. Am J Hum Genet (2004) 1.45
CALL interrupted in a patient with non-specific mental retardation: gene dosage-dependent alteration of murine brain development and behavior. Hum Mol Genet (2003) 1.43
Novel MYH11 and ACTA2 mutations reveal a role for enhanced TGFβ signaling in FTAAD. Int J Cardiol (2011) 1.41