Citation Impact
Citing Papers
Humanized Foxp2 accelerates learning by enhancing transitions from declarative to procedural performance
2014 StandoutNobel
Rubinstein-Taybi syndrome caused by mutations in the transcriptional co-activator CBP
1995 StandoutNature
Comprehensive molecular portraits of human breast tumours
2012 StandoutNature
FGF signaling in skeletal development
1998
Procollagen II Amino Propeptide Processing by ADAMTS-3
2001
Constitutive receptor activation by Crouzon syndrome mutations in fibroblast growth factor receptor (FGFR)2 and FGFR2/Neu chimeras.
1996
Aicardi‐Goutières syndrome: An update and results of interferon‐α studies
1998
Abdominal obesity and metabolic syndrome
2006 StandoutNature
Mutations of the TWIST gene in the Saethre-Chotzene syndrome
1997
Holt–Oram syndrome is a genetically heterogeneous disease with one locus mapping to human chromosome 12q
1994
A common mutation in the fibroblast growth factor receptor 1 gene in Pfeiffer syndrome
1994
Craniosynostosis: from a clinical description to an understanding of bone formation of the skull
1999
Mutations in human cause limb and cardiac malformation in Holt-Oram syndrome
1997
Fgf8 is required for outgrowth and patterning of the limbs
2000 StandoutNobel
A recurrent mutation in MED12 leading to R961W causes Opitz-Kaveggia syndrome
2007
A recurrent mutation in the tyrosine kinase domain of fibroblast growth factor receptor 3 causes hypochondroplasia
1995
Detecting prion protein gene mutations by denaturing gradient gel electrophoresis
1994 StandoutNobel
Behavioural analysis of an inherited speech and language disorder: comparison with acquired aphasia
2002
Cell Signaling by Receptor Tyrosine Kinases
2010 Standout
Autistic spectrum disorders in Möbius sequence: a comprehensive study of 25 individuals
2001
Genomic Screening of Fibroblast Growth-Factor Receptor 2 Reveals a Wide Spectrum of Mutations in Patients with Syndromic Craniosynostosis
2002
PHARMACOLOGICAL ASPECTS OF HUMAN AND CANINE NARCOLEPSY
1997
Hedgehog signalling in the mouse requires intraflagellar transport proteins
2003 StandoutNature
The Seventh Report of the Joint National Committee on Prevention, Detection, Evaluation, and Treatment of High Blood Pressure<SUBTITLE>The JNC 7 Report</SUBTITLE>
2003 Standout
Fibroblast-growth-factor receptor mutations in human skeletal disorders
1995
Okihiro syndrome is caused by SALL4 mutations
2002
A Novel Transcription Factor, T-bet, Directs Th1 Lineage Commitment
2000 Standout
Missense FGFR3 mutations create cysteine residues in thanatophoric dwarfism type I (TD1)
1996
Broad-Spectrum Möbius Syndrome Associated with a 1;11 Chromosome Translocation
1993
Thanatophoric dysplasia (types I and II) caused by distinct mutations in fibroblast growth factor receptor 3
1995
Triplet repeat mutations in human disease
1992 Science
Mutations in a putative global transcriptional regulator cause X-linked mental retardation with α-thalassemia (ATR-X syndrome)
1995
Mutations in a member of the ADAMTS gene family cause thrombotic thrombocytopenic purpura
2001 StandoutNature
A CGH study of 27 patients with CHARGE association
2002
Crouzon-like craniofacial dysmorphology in the mouse is caused by an insertional mutation at theFgf3/Fgf4 locus
1998 StandoutNobel
FGF signaling pathways in endochondral and intramembranous bone development and human genetic disease
2002 Standout
Ocular and Clinical Manifestations of Möbius' Syndrome
2001
Deletion of Pten in mouse brain causes seizures, ataxia and defects in soma size resembling Lhermitte-Duclos disease
2001 StandoutNobel
Developmental regulation of the growth plate
2003 StandoutNature
A forkhead-domain gene is mutated in a severe speech and language disorder
2001 Nature
Triplet repeat expansion in neuromuscular disease
2000
Exon 1 of the HD Gene with an Expanded CAG Repeat Is Sufficient to Cause a Progressive Neurological Phenotype in Transgenic Mice
1996 Standout
Greig cephalopolysyndactyly syndrome: A possible mouse homologue (Xt‐extra toes)
1988
Mutations at the PAX6 locus are found in heterogeneous anterior segment malformations including Peters' anomaly
1994
Wnt/β-Catenin Signaling and Disease
2012 Standout
Language fMRI abnormalities associated with FOXP2 gene mutation
2003
A gene for Holt–Oram syndrome maps to the distal long arm of chromosome 12
1994
Moebius syndrome: Animal model—human correlations and evidence for a brainstem vascular etiology
1989
Fibroblast Growth Factor Receptor‐2 Mutations in Craniosynostosisa
1996
CHARGE syndrome: an update
2007
Autophagy in the Pathogenesis of Disease
2008 Standout
Möbius and Möbius-Like Syndromes (TTV-OFM, OMLH)
1989
Apert syndrome results from localized mutations of FGFR2 and is allelic with Crouzon syndrome
1995 Standout
Generation and characterization of irradiation hybrids of human chromosome 4
1991
Holt-Oram syndrome is caused by mutations in TBX5, a member of the Brachyury (T) gene family
1997 Standout
Mutation associated with Crouzon syndrome causes ligand-independent dimerization and activation of FGF receptor-2
1997
Human Ehlers-Danlos Syndrome Type VII C and Bovine Dermatosparaxis Are Caused by Mutations in the Procollagen I N-Proteinase Gene
1999
Patterning of the Caenorhabditis elegans head region by the Pax-6 family member vab-3
1995 StandoutNatureNobel
Target-independent pattern specification in the olfactory epithelium
1995 StandoutNobel
Localisation of a gene implicated in a severe speech and language disorder
1998
Cockayne syndrome: Review of 140 cases
1992
Narcolepsy in orexin Knockout Mice
1999 Standout
The neurobiology of narcolepsy-cataplexy
1993
Hypoxia Rescues Frataxin Loss by Restoring Iron Sulfur Cluster Biogenesis
2019 StandoutNobel
Fibroblast growth factor receptor 3 (FGFR3) transmembrane mutation in Crouzon syndrome with acanthosis nigricans
1995
Mutations in a new member of the chromodomain gene family cause CHARGE syndrome
2004 Standout
Identical mutations in three different fibroblast growth factor receptor genes in autosomal dominant craniosynostosis syndromes
1996
Distal spinal and bulbar muscular atrophy caused by dynactin mutation
2005
The Sleep Disorder Canine Narcolepsy Is Caused by a Mutation in the Hypocretin (Orexin) Receptor 2 Gene
1999 Standout
Toward a genetic etiology of CHARGE syndrome: I. A systematic scan for submicroscopic deletions
2003
A Novel Multiple PDZ Domain-containing Molecule Interacting withN-Methyl-d-aspartateReceptors and Neuronal Cell Adhesion Proteins
1998 StandoutNobel
Apert syndrome mutations in fibroblast growth factor receptor 2 exhibit increased affinity for FGF ligand
1998
Fraser syndrome and cryptophthalmos: review of the diagnostic criteria and evidence for phenotypic modules in complex malformation syndromes
2002
Drug export activity of the human canalicular multispecific organic anion transporter in polarized kidney MDCK cells expressing cMOAT (MRP2) cDNA.
1998
p63 is a p53 homologue required for limb and epidermal morphogenesis
1999 StandoutNature
GATA4 mutations cause human congenital heart defects and reveal an interaction with TBX5
2003 StandoutNature
p63 is essential for regenerative proliferation in limb, craniofacial and epithelial development
1999 StandoutNature
Repertoires of Autophagy in the Pathogenesis of Ocular Diseases
2015 Standout
FOXP2 and the neuroanatomy of speech and language
2005
Localization of a gene for Mobius syndrome to chromosome 3q by linkage analysis in a Dutch family
1996
Insulin resistance in human partial lipodystrophy
2000
Chromosomal localisation of a developmental gene in man: Direct DNA analysis demonstrates that Greig cephalopolysyndactyly maps to 7p13
1988
Insoluble wild–type and protease–resistant mutant prion protein in brains of patients with inherited prion disease
1996 StandoutNobel
Environmental and Heritable Factors in the Causation of Cancer — Analyses of Cohorts of Twins from Sweden, Denmark, and Finland
2000 Standout
Familial aggregation of a developmental language disorder
1991
NARCOLEPSY
1996
Androgen receptor gene mutations in X-linked spinal and bulbar muscular atrophy
1991 StandoutNature
Molecular evolution of FOXP2, a gene involved in speech and language
2002 StandoutNatureNobel
The Human Condition—A Molecular Approach
2014 StandoutNobel
Constitutive Activation of Fibroblast Growth Factor Receptor-2 by a Point Mutation Associated with Crouzon Syndrome
1995
Proteus syndrome: Diagnostic criteria, differential diagnosis, and patient evaluation
1999
Greig syndrome associated with an interstitial deletion of 7p: confirmation of the localization of Greig syndrome to 7p13
1991
Rubinstein-Taybi syndrome in the Netherlands
2005
Hypermutability and mismatch repair deficiency in RER+ tumor cells
1993 StandoutNobel
Cell Signaling by Receptor Tyrosine Kinases
2000 Standout
A mouse model of Greig cephalo–polysyndactyly syndrome: the extra–toesJ mutation contains an intragenic deletion of the Gli3 gene
1993 Standout
CHD7 cooperates with PBAF to control multipotent neural crest formation
2010 StandoutNature
Möbius Syndrome: Classification and Grading System
1998
Trex1 Exonuclease Degrades ssDNA to Prevent Chronic Checkpoint Activation and Autoimmune Disease
2007 StandoutNobel
Inherited prion disease (PrP lysine 200) in Britain: two case reports.
1993
Praxic and nonverbal cognitive deficits in a large family with a genetically transmitted speech and language disorder.
1995
The Greig cephalopolysyndactyly syndrome: Report of a family and review of the literature
1985
Phenotypic consequences of lung-specific inducible expression of FGF-3
2001 StandoutNobel
Variants of Möbius' Syndrome and Central Neurologic Impairment
1987
Activating mutations in the extracellular domain of the fibroblast growth factor receptor 2 function by disruption of the disulfide bond in the third immunoglobulin-like domain
1998
Involvement of FGF-8 in initiation, outgrowth and patterning of the vertebrate limb
1996
Evidence for protein X binding to a discontinuous epitope on the cellular prion protein during scrapie prion propagation
1997 StandoutNobel
Autistic spectrum disorders in Möbius sequence: a comprehensive study of 25 individuals
2001
Increased bone formation and osteoblastic cell phenotype in premature cranial suture ossification (craniosynostosis)
1996
Premature suture closure and ectopic cranial bone in mice expressing Msx2 transgenes in the developing skull.
1995
Canine model of narcolepsy: Genetic and developmental determinants
1982
Functions of fibroblast growth factors and their receptors
1995
Visual Involvement in Friedreich's Ataxia and Hereditary Spastic Ataxia
1981
Transforming Growth Factor βs and Fibroblast Growth Factors and Their Receptors: Role in Sutural Biology and Craniosynostosis
1997
Constitutive activation of fibroblast growth factor receptor 3 by the transmembrane domain point mutation found in achondroplasia.
1996
The extracellular matrix geneFrem1is essential for the normal adhesion of the embryonic epidermis
2004 StandoutNobel
Craniosynostosis: genes and mechanisms
1997
Obesity Evaluation and Treatment: Expert Committee Recommendations
1998
Different TBX5 interactions in heart and limb defined by Holt–Oram syndrome mutations
1999
A novel gene containing a trinucleotide repeat that is expanded and unstable on Huntington's disease chromosomes
1993 Standout
Mobius syndrome redefined
2003 Standout
Mutation of the Angelman Ubiquitin Ligase in Mice Causes Increased Cytoplasmic p53 and Deficits of Contextual Learning and Long-Term Potentiation
1998
Features of DiGeorge syndrome and CHARGE association in five patients.
1997
FGFR2 exon IIIa and IIIc mutations in Crouzon, Jackson-Weiss, and Pfeiffer syndromes: evidence for missense changes, insertions, and a deletion due to alternative RNA splicing.
1996
Neural basis of an inherited speech and language disorder
1998
Evoked Potentials in Clinical Medicine
1982 Standout
CHARGE association in newborns: A registry-based study
1999
Lethal mitochondrial cardiomyopathy in a hypomorphic Med30 mouse mutant is ameliorated by ketogenic diet
2011 StandoutNobel
The Molecular and Genetic Basis of Fibroblast Growth Factor Receptor 3 Disorders: The Achondroplasia Family of Skeletal Dysplasias, Muenke Craniosynostosis, and Crouzon Syndrome with Acanthosis Nigricans
2000
The Molecular and Genetic Basis of Fibroblast Growth Factor Receptor 3 Disorders: The Achondroplasia Family of Skeletal Dysplasias, Muenke Craniosynostosis, and Crouzon Syndrome with Acanthosis Nigricans*
2000
The Ubiquitin-Proteasome Proteolytic Pathway: Destruction for the Sake of Construction
2002 StandoutNobel
Clinical features of Friedreich's ataxia: classical and atypical phenotypes
2013
Testing structural equation models for twin data using LISREL
1989
Triplet Repeat Mutations in Human Disease
1992 Science
A translocation at 12q2 refines the interval containing the Holt-Oram syndrome 1 gene.
1996
Deletion of mouse Porcn blocks Wnt ligand secretion and reveals an ectodermal etiology of human focal dermal hypoplasia/Goltz syndrome
2011
Targeted Investigation of the Neandertal Genome by Array-Based Sequence Capture
2010 StandoutScienceNobel
Moebius syndrome.
1990
Loss of fibroblast growth factor receptor 2 ligand-binding specificity in Apert syndrome
2000
Involvement of FGF8 in initiation, outgrowth and patterning of the vertebrate limb
1996
Cockayne syndrome group B protein enhances elongation by RNA polymerase II
1997 StandoutNobel
Mutation of the E6-AP Ubiquitin Ligase Reduces Nuclear Inclusion Frequency While Accelerating Polyglutamine-Induced Pathology in SCA1 Mice
1999 StandoutNobel
Works of M Baraitser being referenced
Autosomal recessive congenital intrauterine infection‐like syndrome of microcephaly, intracranial calcification, and CNS disease
1994
Male pseudohermaphroditism in sibs with the α‐thalassemia/mental retardation (ATR‐X) syndrome
1995
The Holt-Oram syndrome.
1991
Identical mutations in the FGFR2 gene cause both Pfeiffer and Crouzon syndrome phenotypes
1995
An extended Family with a Dominantly Inherited Speech Disorder
1990
Blepharophimosis, ptosis, epicanthus inversus syndrome (BPES syndrome)
1988
Focal dermal hypoplasia (Goltz syndrome).
1990
Early Onset Leukodystrophy with Distinct Facial Features in 2 Siblings
1989
NATURAL HISTORY, SYMPTOMS AND TREATMENT OF THE NARCOLEPTIC SYNDROME
1975
Oculofacialbulbar palsy in mother and son: review of 26 reports of familial transmission within the 'Möbius spectrum of defects'.
1991
FG syndrome.
1987
Proteus syndrome: An expanded phenotype
1987
The natural history of human dermatosparaxis (Ehlers-Danlos syndrome type VIIC)
1995
Okihiro syndrome: thenar hypoplasia and Duane anomaly in three generations.
1993
Balanced t(6;8)(6p8p;6q8q) and the CHARGE association.
1991
Pitfalls of genetic counselling in Pfeiffer's syndrome.
1980
A syndrome with intracranial calcification and microcephaly in two sibs, resembling intrauterine infection
1986
Greig cephalopolysyndactyly: report of 13 affected individuals in three families
1983
The 'happy puppet' syndrome of Angelman: review of the clinical features.
1989
Proteus syndrome: report of a case with severe brain impairment and fatal course.
1990
The clinical features of the Cohen syndrome: further case reports.
1985
Distal spinal muscular atrophy with vocal cord paralysis.
1992
Heterogeneity in dominant anterior segment malformations.
1991
Presymptomatic detection or exclusion of prion protein gene defects in families with inherited prion diseases.
1991
The clinical spectrum of the Fraser syndrome: report of three new cases and review.
1987
Moebius' syndrome with unilateral cerebellar hypoplasia.
1989
Genetics of Möbius syndrome.
1977
X-linked recessive bulbospinal neuronopathy: a report of ten cases.
1982
Genetic Basis of the Epilepsies
1982
Early onset Cockayne's syndrome: case reports with neuropathological and fibroblast studies.
1989
A reappraisal of the CHARGE association.
1988
THE INCIDENCE AND NATURE OF VISUAL PATHWAY INVOLVEMENT IN FRIEDREICH'S ATAXIA
1980
Genetic study of narcoleptic syndrome.
1978
Huntington's chorea arising as a fresh mutation.
1983
Partial lipoatrophy with insulin resistant diabetes and hyperlipidaemia (Dunnigan syndrome).
1986
A gene for FG syndrome maps in the Xq12-q21.31 region
1997