Citation Impact
Citing Papers
Chromosome Abnormalities and Genetic Counseling
2011
Distinct fibroblast lineages determine dermal architecture in skin development and repair
2013 StandoutNature
Identification of risk loci with shared effects on five major psychiatric disorders: a genome-wide analysis
2013 Standout
Sox2-positive dermal papilla cells specify hair follicle type in mammalian epidermis
2009
Biomolecular condensates: organizers of cellular biochemistry
2017 Standout
Hoxb2 and Hoxb4 Act Together to Specify Ventral Body Wall Formation
2001 StandoutNobel
Mutations of PVRL1, encoding a cell-cell adhesion molecule/herpesvirus receptor, in cleft lip/palate-ectodermal dysplasia
2000 Standout
Sox9 Modulates Proliferation and Expression of Osteogenic Markers of Adipose-Derived Stem Cells (ASC)
2013 Standout
Perinatal Lethality and Multiple Craniofacial Malformations in MSX2 Transgenic Mice
1997 StandoutNobel
A locus for an auditory processing deficit and language impairment in an extended pedigree maps to 12p13.31‐q14.3
2010 StandoutNobel
Histone methylation: a dynamic mark in health, disease and inheritance
2012 Standout
Neural tube, skeletal and body wall defects in mice lacking transcription factor AP-2
1996 Nature
ANE syndrome caused by mutated RBM28 gene: a novel etiology of combined pituitary hormone deficiency
2010
Inherited PAX6, NF1 and OTX2 mutations in a child with microphthalmia and aniridia
2007 StandoutNobel
H3K9 methyltransferase G9a and the related molecule GLP
2011
Exon skipping and dystrophin restoration in patients with Duchenne muscular dystrophy after systemic phosphorodiamidate morpholino oligomer treatment: an open-label, phase 2, dose-escalation study
2011 Standout
Developmental malformations of the eye: the role of PAX6, SOX2 and OTX2
2006
Prevalence of Muscular Dystrophies: A Systematic Literature Review
2014 Standout
Cleft lip and palate: understanding genetic and environmental influences
2011 Standout
Revisiting the recurrence risk of nonsyndromic cleft lip with or without cleft palate
2010
A systematic review of population based epidemiological studies in Myasthenia Gravis
2010 Standout
Cleft lip and palate
2009 Standout
Control of cell fate and differentiation by Sry-related high-mobility-group box (Sox) transcription factors
2007
Epidemiology of myotonic dystrophy in Italy: re‐apprisal after genetic diagnosis
2001
Comparison of Human Chromosome 6p25 with Mouse Chromosome 13 Reveals a Greatly Expanded Ov-Serpin Gene Repertoire in the Mouse
2002
Dedicator of cytokinesis 8 is disrupted in two patients with mental retardation and developmental disabilities
2007
Prescribing Personalized Nutrition for Cardiovascular Health: Are We Ready?
2014 Standout
Phase Transition in Postsynaptic Densities Underlies Formation of Synaptic Complexes and Synaptic Plasticity
2016
MicroRNAs and developmental timing
2011 StandoutNobel
Reduced exploration, increased anxiety, and altered social behavior: Autistic-like features of euchromatin histone methyltransferase 1 heterozygous knockout mice
2009
Health Supervision for Children With Down Syndrome
2011 Standout
Histone methyltransferases in cancer
2009
Chromosome 1p21.3 microdeletions comprising DPYD and MIR137 are associated with intellectual disability
2011
Identification of susceptibility loci for nonsyndromic cleft lip with or without cleft palate in a two stage genome scan of affected sib-pairs
2000
Control of Cognition and Adaptive Behavior by the GLP/G9a Epigenetic Suppressor Complex
2009
QuantiSNP: an Objective Bayes Hidden-Markov Model to detect and accurately map copy number variation using SNP genotyping data
2007
Multiple dose-dependent roles for Sox2 in the patterning and differentiation of anterior foregut endoderm
2007
The Fibroblast Growth Factor signaling pathway
2015 Standout
Serpin Structure, Mechanism, and Function
2002 Standout
Mice with mutations of Dock7 have generalized hypopigmentation and white-spotting but show normal neurological function
2009 StandoutNobel
An update on the aetiology of orofacial clefts.
2004
PHF8 Targets Histone Methylation and RNA Polymerase II To Activate Transcription
2010
Mice mutant for both Hoxa1 and Hoxb1 show extensive remodeling of the hindbrain and defects in craniofacial development
1999 StandoutNobel
AnFgf8mouse mutant phenocopies human 22q11 deletion syndrome
2002 StandoutNobel
Histone H3 lysine 9 di-methylation as an epigenetic signature of the interferon response
2012 StandoutNobel
Nonsyndromic cleft lip with or without cleft palate: evidence of linkage to BCL3 in 17 multigenerational families.
1995
Inactivation of the β-catenin gene by Wnt1-Cre-mediated deletion results in dramatic brain malformation and failure of craniofacial development
2001 Standout
Methylation of hypoxia-inducible factor (HIF)-1α by G9a/GLP inhibits HIF-1 transcriptional activity and cell migration
2018 StandoutNobel
Liquid phase condensation in cell physiology and disease
2017 StandoutScience
Works of Alex Magee being referenced
Mutations in SOX2 cause anophthalmia-esophageal-genital (AEG) syndrome
2006
Loss-of-Function Mutations in Euchromatin Histone Methyl Transferase 1 (EHMT1) Cause the 9q34 Subtelomeric Deletion Syndrome
2006
De novo direct duplication 2 (p12 p21) with paternally inherited pericentric inversion 2p11.2 2q12.2
1998
De novo, heterozygous, loss‐of‐function mutations in SYNGAP1 cause a syndromic form of intellectual disability
2015
Ullrich-Turner syndrome: Seven pregnancies in an apparent 45,X woman
1998
Mutations in SOX2 cause anophthalmia–esophageal–genital (AEG) syndrome
2006
The Epidemiology of Myotonic Dystrophy in Northern Ireland
1999
Segregation distortion in myotonic dystrophy.
1998
Evidence of a locus for orofacial clefting on human chromosome 6p24 and STS content map of the region
1995