Published in Am J Hum Genet on April 29, 2004
Growth of the normal skull vault and its alteration in craniosynostosis: insights from human genetics and experimental studies. J Anat (2005) 2.58
Inhibition of gap junction communication at ectopic Eph/ephrin boundaries underlies craniofrontonasal syndrome. PLoS Biol (2006) 2.43
Eph/ephrin signaling: networks. Genes Dev (2008) 2.13
X-linked protocadherin 19 mutations cause female-limited epilepsy and cognitive impairment. Nat Genet (2008) 1.95
Sporadic infantile epileptic encephalopathy caused by mutations in PCDH19 resembles Dravet syndrome but mainly affects females. PLoS Genet (2009) 1.81
Signaling and transcriptional regulation in osteoblast commitment and differentiation. Front Biosci (2007) 1.61
Development of the upper lip: morphogenetic and molecular mechanisms. Dev Dyn (2006) 1.61
Frontorhiny, a distinctive presentation of frontonasal dysplasia caused by recessive mutations in the ALX3 homeobox gene. Am J Hum Genet (2009) 1.57
Disruption of ALX1 causes extreme microphthalmia and severe facial clefting: expanding the spectrum of autosomal-recessive ALX-related frontonasal dysplasia. Am J Hum Genet (2010) 1.49
Clinical, genetic and imaging findings identify new causes for corpus callosum development syndromes. Brain (2014) 1.26
The origin of EFNB1 mutations in craniofrontonasal syndrome: frequent somatic mosaicism and explanation of the paucity of carrier males. Am J Hum Genet (2006) 1.22
Bone cell interactions through Eph/ephrin: bone modeling, remodeling and associated diseases. Cell Adh Migr (2012) 1.18
Ephrin-B1 forward signaling regulates craniofacial morphogenesis by controlling cell proliferation across Eph-ephrin boundaries. Genes Dev (2010) 1.17
Ephrin-B1 regulates axon guidance by reverse signaling through a PDZ-dependent mechanism. Genes Dev (2009) 1.17
Eph receptors and ephrin signaling pathways: a role in bone homeostasis. Int J Med Sci (2008) 1.17
Presenilin-dependent intramembrane cleavage of ephrin-B1. Mol Neurodegener (2006) 1.11
Signaling networks that control the lineage commitment and differentiation of bone cells. Crit Rev Eukaryot Gene Expr (2009) 1.11
EphA4 and EfnB2a maintain rhombomere coherence by independently regulating intercalation of progenitor cells in the zebrafish neural keel. Dev Biol (2008) 1.06
Mechanisms of ephrin-Eph signalling in development, physiology and disease. Nat Rev Mol Cell Biol (2016) 1.05
Cellular interference in craniofrontonasal syndrome: males mosaic for mutations in the X-linked EFNB1 gene are more severely affected than true hemizygotes. Hum Mol Genet (2013) 1.02
A Genetic-Pathophysiological Framework for Craniosynostosis. Am J Hum Genet (2015) 1.02
A Rap GTPase interactor, RADIL, mediates migration of neural crest precursors. Genes Dev (2007) 0.98
The impact of CFNS-causing EFNB1 mutations on ephrin-B1 function. BMC Med Genet (2010) 0.93
Mutations and deletions in PCDH19 account for various familial or isolated epilepsies in females. Hum Mutat (2011) 0.89
Additional EFNB1 mutations in craniofrontonasal syndrome. Am J Med Genet A (2008) 0.89
Craniosynostosis of coronal suture in twist1 mice occurs through endochondral ossification recapitulating the physiological closure of posterior frontal suture. Front Physiol (2011) 0.85
Phenotypes of craniofrontonasal syndrome in patients with a pathogenic mutation in EFNB1. Eur J Hum Genet (2013) 0.84
CNV analysis in 169 patients with bladder exstrophy-epispadias complex. BMC Med Genet (2016) 0.82
Learning about the X from our parents. Front Genet (2015) 0.81
Unidirectional Eph/ephrin signaling creates a cortical actomyosin differential to drive cell segregation. J Cell Biol (2016) 0.81
Understanding craniosynostosis as a growth disorder. Wiley Interdiscip Rev Dev Biol (2016) 0.79
Craniosynostosis: molecular pathways and future pharmacologic therapy. Organogenesis (2012) 0.79
Duplication of the EFNB1 gene in familial hypertelorism: imbalance in ephrin-B1 expression and abnormal phenotypes in humans and mice. Hum Mutat (2011) 0.79
Embryonic expression of EphA receptor genes in mice supports their candidacy for involvement in cleft lip and palate. Dev Dyn (2014) 0.79
Cortical abnormalities and non-spatial learning deficits in a mouse model of CranioFrontoNasal syndrome. PLoS One (2014) 0.77
Somatic mosaicism of PCDH19 mutation in a family with low-penetrance EFMR. Neurogenetics (2012) 0.76
Ephrin Ligands and Eph Receptors Show Regionally Restricted Expression in the Developing Palate and Tongue. Front Physiol (2016) 0.76
X-linked heterozygous mutations in ARR3 cause female-limited early onset high myopia. Mol Vis (2016) 0.76
Signaling pathways in osteogenesis and osteoclastogenesis: Lessons from cranial sutures and applications to regenerative medicine. Genes Dis (2015) 0.75
A Novel De Novo EFNB1 Gene Mutation in a Mexican Patient with Craniofrontonasal Syndrome. Case Rep Genet (2013) 0.75
The Role of Ephs and Ephrins in Memory Formation. Int J Neuropsychopharmacol (2016) 0.75
EPHRIN-B1 Mosaicism Drives Cell Segregation in Craniofrontonasal Syndrome hiPSC-Derived Neuroepithelial Cells. Stem Cell Reports (2017) 0.75
A Family with Craniofrontonasal Syndrome and a Mutation (p.G151S) in the EFNB1 Gene: Expanding the Phenotype. Mol Syndromol (2016) 0.75
Isolated Sagittal Synostosis in a Boy with Craniofrontonasal Dysplasia and a Novel EFNB1 Mutation. Plast Reconstr Surg Glob Open (2015) 0.75
Identification and expression analysis of a novel intragenic EFNB1 mutation causing craniofrontonasal syndrome. Meta Gene (2013) 0.75
Regulation of neural circuit formation by protocadherins. Cell Mol Life Sci (2017) 0.75
Closing the Gap: Mouse Models to Study Adhesion in Secondary Palatogenesis. J Dent Res (2017) 0.75
Asymmetry at cell-cell interfaces direct cell sorting, boundary formation, and tissue morphogenesis. Exp Cell Res (2017) 0.75
A new approach to chromosome-wide analysis of X-linked markers identifies new associations in Asian and European case-parent triads of orofacial clefts. PLoS One (2017) 0.75
Methylation of HpaII and HhaI sites near the polymorphic CAG repeat in the human androgen-receptor gene correlates with X chromosome inactivation. Am J Hum Genet (1992) 11.38
Mechanisms and functions of Eph and ephrin signalling. Nat Rev Mol Cell Biol (2002) 6.92
A first-generation X-inactivation profile of the human X chromosome. Proc Natl Acad Sci U S A (1999) 6.59
Nuk controls pathfinding of commissural axons in the mammalian central nervous system. Cell (1996) 3.19
Crystal structure of an Eph receptor-ephrin complex. Nature (2002) 2.80
Multiple roles of EPH receptors and ephrins in neural development. Nat Rev Neurosci (2001) 2.61
Sek4 and Nuk receptors cooperate in guidance of commissural axons and in palate formation. EMBO J (1996) 2.26
'Eph'ective signaling: forward, reverse and crosstalk. J Cell Sci (2003) 2.17
Control of skeletal patterning by ephrinB1-EphB interactions. Dev Cell (2003) 2.11
Metabolic interference and the + - heterozygote. a hypothetical form of simple inheritance which is neither dominant nor recessive. Am J Hum Genet (1980) 2.09
An ephrin mimetic peptide that selectively targets the EphA2 receptor. J Biol Chem (2002) 1.74
Crystal structure of an ephrin ectodomain. Dev Cell (2001) 1.37
Craniofrontonasal syndrome: study of 41 patients. Am J Med Genet (1996) 1.10
A novel phenotypic pattern in X-linked inheritance: craniofrontonasal syndrome maps to Xp22. Hum Mol Genet (1997) 0.98
Mapping of a further locus for X-linked craniofrontonasal syndrome. Cytogenet Genome Res (2002) 0.94
Craniofrontonasal dysplasia: more severe expression in the mother than in her son. Genet Couns (1995) 0.90
Range of genetic mutations associated with severe non-syndromic sporadic intellectual disability: an exome sequencing study. Lancet (2012) 8.42
The notch ligands Dll4 and Jagged1 have opposing effects on angiogenesis. Cell (2009) 5.33
Deep sequencing reveals 50 novel genes for recessive cognitive disorders. Nature (2011) 4.85
Ephrin-B2 controls VEGF-induced angiogenesis and lymphangiogenesis. Nature (2010) 4.85
Ephrin-B2 controls cell motility and adhesion during blood-vessel-wall assembly. Cell (2006) 3.51
Targeting of αv integrin identifies a core molecular pathway that regulates fibrosis in several organs. Nat Med (2013) 3.35
PDZ interaction site in ephrinB2 is required for the remodeling of lymphatic vasculature. Genes Dev (2005) 3.29
Regulation of vascular morphogenesis by Notch signaling. Genes Dev (2007) 3.10
Mutant chromatin remodeling protein SMARCAL1 causes Schimke immuno-osseous dysplasia. Nat Genet (2002) 2.64
EphB signaling directs peripheral nerve regeneration through Sox2-dependent Schwann cell sorting. Cell (2010) 2.54
Mechanotransduction, PROX1, and FOXC2 cooperate to control connexin37 and calcineurin during lymphatic-valve formation. Dev Cell (2012) 2.45
Hippocampal plasticity requires postsynaptic ephrinBs. Nat Neurosci (2003) 2.37
Dynamics of endothelial cell behavior in sprouting angiogenesis. Curr Opin Cell Biol (2010) 2.22
Haploinsufficiency of TCF4 causes syndromal mental retardation with intermittent hyperventilation (Pitt-Hopkins syndrome). Am J Hum Genet (2007) 2.22
Regulation of angiogenesis by Eph-ephrin interactions. Trends Cardiovasc Med (2007) 2.15
Notch-dependent VEGFR3 upregulation allows angiogenesis without VEGF-VEGFR2 signalling. Nature (2012) 2.13
Inducible gene targeting in the neonatal vasculature and analysis of retinal angiogenesis in mice. Nat Protoc (2010) 2.12
Control of skeletal patterning by ephrinB1-EphB interactions. Dev Cell (2003) 2.11
DLL1-mediated Notch activation regulates endothelial identity in mouse fetal arteries. Blood (2009) 2.07
The Wnt/beta-catenin pathway modulates vascular remodeling and specification by upregulating Dll4/Notch signaling. Dev Cell (2010) 2.01
Shprintzen-Goldberg syndrome: fourteen new patients and a clinical analysis. Am J Med Genet A (2005) 1.91
Spatial regulation of VEGF receptor endocytosis in angiogenesis. Nat Cell Biol (2013) 1.89
Spermatid differentiation requires the assembly of a cell polarity complex downstream of junctional adhesion molecule-C. Nature (2004) 1.88
Escobar syndrome is a prenatal myasthenia caused by disruption of the acetylcholine receptor fetal gamma subunit. Am J Hum Genet (2006) 1.84
Novel associations in disorders of sex development: findings from the I-DSD Registry. J Clin Endocrinol Metab (2013) 1.76
Copy number variants in patients with severe oligozoospermia and Sertoli-cell-only syndrome. PLoS One (2011) 1.75
Pathogenesis of arteriovenous malformations in the absence of endoglin. Circ Res (2010) 1.70
Eph/ephrin molecules--a hub for signaling and endocytosis. Genes Dev (2010) 1.64
A novel multistep mechanism for initial lymphangiogenesis in mouse embryos based on ultramicroscopy. EMBO J (2013) 1.58
Integration of a Notch-dependent mesenchymal gene program and Bmp2-driven cell invasiveness regulates murine cardiac valve formation. J Clin Invest (2010) 1.54
Identification of novel roles of the cytochrome p450 system in early embryogenesis: effects on vasculogenesis and retinoic Acid homeostasis. Mol Cell Biol (2003) 1.54
Recurrent aberrations identified by array-CGH in patients with Mayer-Rokitansky-Küster-Hauser syndrome. Fertil Steril (2010) 1.44
Integrin beta1 subunit controls mural cell adhesion, spreading, and blood vessel wall stability. Circ Res (2008) 1.43
Gerodermia osteodysplastica is caused by mutations in SCYL1BP1, a Rab-6 interacting golgin. Nat Genet (2008) 1.40
A direct functional link between the multi-PDZ domain protein GRIP1 and the Fraser syndrome protein Fras1. Nat Genet (2004) 1.39
SIL1 mutations and clinical spectrum in patients with Marinesco-Sjogren syndrome. Brain (2013) 1.29
Developmental timing of CCM2 loss influences cerebral cavernous malformations in mice. J Exp Med (2011) 1.25
Lipid phosphate phosphatase 3 enables efficient thymic egress. J Exp Med (2011) 1.23
Endothelial PI3K-C2α, a class II PI3K, has an essential role in angiogenesis and vascular barrier function. Nat Med (2012) 1.23
WNT10A mutations are a frequent cause of a broad spectrum of ectodermal dysplasias with sex-biased manifestation pattern in heterozygotes. Am J Hum Genet (2009) 1.23
Notch controls retinal blood vessel maturation and quiescence. Development (2013) 1.20
Identification of a clonally expanding haematopoietic compartment in bone marrow. EMBO J (2012) 1.19
Five novel mutations in steroidogenic factor 1 (SF1, NR5A1) in 46,XY patients with severe underandrogenization but without adrenal insufficiency. Hum Mutat (2008) 1.18
A noncoding, regulatory mutation implicates HCFC1 in nonsyndromic intellectual disability. Am J Hum Genet (2012) 1.17
Twenty-six novel EFNB1 mutations in familial and sporadic craniofrontonasal syndrome (CFNS). Hum Mutat (2005) 1.17
Molecular differentiation and specialization of vascular beds. Angiogenesis (2009) 1.16
Expression and function of junctional adhesion molecule-C in myelinated peripheral nerves. Science (2007) 1.14
Sox17 is indispensable for acquisition and maintenance of arterial identity. Nat Commun (2013) 1.12
Ephrin-B2 regulates endothelial cell morphology and motility independently of Eph-receptor binding. J Cell Sci (2010) 1.11
ERK activation causes epilepsy by stimulating NMDA receptor activity. EMBO J (2007) 1.10
Additional chromosomal abnormalities in patients with a previously detected abnormal karyotype, mental retardation, and dysmorphic features. Am J Med Genet A (2006) 1.09
Gastrointestinal stromal tumors of the vermiform appendix: clinicopathologic, immunohistochemical, and molecular study of 2 cases with literature review. Hum Pathol (2008) 1.03
NG2 proteoglycan promotes tumor vascularization via integrin-dependent effects on pericyte function. Angiogenesis (2013) 1.03
Novel distribution of junctional adhesion molecule-C in the neural retina and retinal pigment epithelium. J Comp Neurol (2007) 1.03
Epithelioid gastric stromal tumours of the antrum in young females with the Carney triad: a report of three new cases with mutational analysis and comparative genomic hybridization. Oncol Rep (2007) 1.01
Increased frequency of cystic fibrosis transmembrane conductance regulator gene mutations in infertile males. Fertil Steril (2006) 1.01
Integrin-linked kinase controls vascular wall formation by negatively regulating Rho/ROCK-mediated vascular smooth muscle cell contraction. Genes Dev (2009) 1.01
Atypical phenotypes in patients with facioscapulohumeral muscular dystrophy 4q35 deletion. Arch Neurol (2003) 1.00
Peripheral mural cell recruitment requires cell-autonomous heparan sulfate. Blood (2009) 1.00
Dissecting the molecular mechanisms in craniofrontonasal syndrome: differential mRNA expression of mutant EFNB1 and the cellular mosaic. Eur J Hum Genet (2007) 1.00
Mice lacking the nuclear pore complex protein ALADIN show female infertility but fail to develop a phenotype resembling human triple A syndrome. Mol Cell Biol (2006) 0.99
Formation of the collateral circulation is regulated by vascular endothelial growth factor-A and a disintegrin and metalloprotease family members 10 and 17. Circ Res (2012) 0.99
Sonography of the median nerve in CMT1A, CMT2A, CMTX, and HNPP. Muscle Nerve (2013) 0.97
Endothelial cell-derived non-canonical Wnt ligands control vascular pruning in angiogenesis. Development (2014) 0.97
Fbxw7 controls angiogenesis by regulating endothelial Notch activity. PLoS One (2012) 0.97
Evaluation of TRAP-sequencing technology with a versatile conditional mouse model. Nucleic Acids Res (2013) 0.97
G13 controls angiogenesis through regulation of VEGFR-2 expression. Dev Cell (2013) 0.97
Sox17 promotes tumor angiogenesis and destabilizes tumor vessels in mice. J Clin Invest (2012) 0.96
p.S143F mutation in lamin A/C: a new phenotype combining myopathy and progeria. Ann Neurol (2005) 0.96
Novel POMGnT1 mutations define broader phenotypic spectrum of muscle-eye-brain disease. Neurogenetics (2007) 0.96
Endothelial SRF/MRTF ablation causes vascular disease phenotypes in murine retinae. J Clin Invest (2013) 0.94
BMP15 mutations in XX gonadal dysgenesis and premature ovarian failure. Am J Obstet Gynecol (2007) 0.94
The impact of CFNS-causing EFNB1 mutations on ephrin-B1 function. BMC Med Genet (2010) 0.93
14q12 Microdeletion syndrome and congenital variant of Rett syndrome. Eur J Med Genet (2009) 0.93
Duplication of Xq26.2-q27.1, including SOX3, in a mother and daughter with short stature and dyslalia. Am J Med Genet A (2005) 0.93
Haplotypes in the UGT1A1 gene and their role as genetic determinants of bilirubin concentration in healthy German volunteers. Clin Biochem (2009) 0.92
Cardiac ischemia activates vascular endothelial cadherin promoter in both preexisting vascular cells and bone marrow cells involved in neovascularization. Circ Res (2006) 0.90
Tandem duplication of DMD exon 18 associated with epilepsy, macroglossia, and endocrinologic abnormalities. Muscle Nerve (2007) 0.90
The Junctional Adhesion Molecule-B regulates JAM-C-dependent melanoma cell metastasis. FEBS Lett (2012) 0.90
Expression, alternative splicing and haplotype analysis of transcribed testis specific protein (TSPY) genes. Gene (2003) 0.90
Tetraspanin CD9 links junctional adhesion molecule-A to αvβ3 integrin to mediate basic fibroblast growth factor-specific angiogenic signaling. Mol Biol Cell (2013) 0.90
Homozygous microdeletion of chromosome 4q11-q12 causes severe limb-girdle muscular dystrophy type 2E with joint hyperlaxity and contractures. Hum Mutat (2005) 0.90
Tie1 deletion inhibits tumor growth and improves angiopoietin antagonist therapy. J Clin Invest (2014) 0.90
Comprehensive sequence analysis of the NR5A1 gene encoding steroidogenic factor 1 in a large group of infertile males. Eur J Hum Genet (2013) 0.89
Partial deletion of DMRT1 causes 46,XY ovotesticular disorder of sexual development. Eur J Endocrinol (2012) 0.89
Brain 1H magnetic resonance spectroscopic differences in myotonic dystrophy type 2 and type 1. Muscle Nerve (2006) 0.88
Vascular endothelial adrenomedullin-RAMP2 system is essential for vascular integrity and organ homeostasis. Circulation (2013) 0.88
Establishment and characterization of the permanent human cell line C3842 derived from a secondary chondrosarcoma in Ollier's disease. Virchows Arch (2005) 0.87
Intrachromosomal triplication 12p11.22-p12.3 and gonadal mosaicism of partial tetrasomy 12p. Am J Med Genet A (2006) 0.87
Translocation and deletion around SOX9 in a patient with acampomelic campomelic dysplasia and sex reversal. Sex Dev (2010) 0.87
Constitutive promoter methylation of BRCA1 and RAD51C in patients with familial ovarian cancer and early-onset sporadic breast cancer. Hum Mol Genet (2012) 0.86
EphB-ephrin-B2 interactions are required for thymus migration during organogenesis. Proc Natl Acad Sci U S A (2010) 0.86
JAM-B regulates maintenance of hematopoietic stem cells in the bone marrow. Blood (2011) 0.86
ZC4H2 mutations are associated with arthrogryposis multiplex congenita and intellectual disability through impairment of central and peripheral synaptic plasticity. Am J Hum Genet (2013) 0.85
Improvement of the diagnostic procedure in proximal myotonic myopathy/myotonic dystrophy type 2. Neurogenetics (2003) 0.85