Published in Am J Hum Genet on February 10, 2012
De novo mutations in human genetic disease. Nat Rev Genet (2012) 3.81
Large-scale discovery of novel genetic causes of developmental disorders. Nature (2014) 3.33
A genomic view of mosaicism and human disease. Nat Rev Genet (2013) 2.67
Properties and rates of germline mutations in humans. Trends Genet (2013) 1.58
Elevated germline mutation rate in teenage fathers. Proc Biol Sci (2015) 1.51
Visualizing the origins of selfish de novo mutations in individual seminiferous tubules of human testes. Proc Natl Acad Sci U S A (2016) 1.44
Timing, rates and spectra of human germline mutation. Nat Genet (2015) 1.35
Prioritization of neurodevelopmental disease genes by discovery of new mutations. Nat Neurosci (2014) 1.21
ELANE mutations in cyclic and severe congenital neutropenia: genetics and pathophysiology. Hematol Oncol Clin North Am (2012) 1.14
Age-associated sperm DNA methylation alterations: possible implications in offspring disease susceptibility. PLoS Genet (2014) 1.11
Aging-Induced Stem Cell Mutations as Drivers for Disease and Cancer. Cell Stem Cell (2015) 1.11
Interpreting the role of de novo protein-coding mutations in neuropsychiatric disease. Nat Genet (2013) 1.10
Fibroblast growth factor signaling in skeletal development and disease. Genes Dev (2015) 1.04
A Genetic-Pathophysiological Framework for Craniosynostosis. Am J Hum Genet (2015) 1.02
"Selfish spermatogonial selection": a novel mechanism for the association between advanced paternal age and neurodevelopmental disorders. Am J Psychiatry (2013) 1.00
Contributions of intrinsic mutation rate and selfish selection to levels of de novo HRAS mutations in the paternal germline. Proc Natl Acad Sci U S A (2013) 1.00
Non-heritable genetics of human disease: spotlight on post-zygotic genetic variation acquired during lifetime. J Med Genet (2012) 0.99
Ageing of the male germ line. Nat Rev Urol (2013) 0.99
Age-dependent germline mosaicism of the most common noonan syndrome mutation shows the signature of germline selection. Am J Hum Genet (2013) 0.97
The effects of advanced paternal age on fertility. Asian J Androl (2013) 0.93
Age-related sperm DNA methylation changes are transmitted to offspring and associated with abnormal behavior and dysregulated gene expression. Mol Psychiatry (2014) 0.92
Enhanced fitness of adult spermatogonial stem cells bearing a paternal age-associated FGFR2 mutation. Stem Cell Reports (2014) 0.90
New insights into the generation and role of de novo mutations in health and disease. Genome Biol (2016) 0.88
Selfish spermatogonial selection: evidence from an immunohistochemical screen in testes of elderly men. PLoS One (2012) 0.85
Genetics: The rate of human mutation. Nature (2012) 0.85
Fibroblast growth factor receptor 3 is highly expressed in rarely dividing human type A spermatogonia. Histochem Cell Biol (2012) 0.84
Paternal aging and increased risk of congenital disease, psychiatric disorders, and cancer. Asian J Androl (2016) 0.84
Telomere length, family history, and paternal age in schizophrenia. Mol Genet Genomic Med (2014) 0.84
New evidence for positive selection helps explain the paternal age effect observed in achondroplasia. Hum Mol Genet (2013) 0.83
Epidemiology of childhood acute myeloid leukemia. Pediatr Blood Cancer (2013) 0.83
Achondroplasia: Development, Pathogenesis, and Therapy. Dev Dyn (2016) 0.83
Genetics of Gonadal Stem Cell Renewal. Annu Rev Cell Dev Biol (2015) 0.81
Effects of increased paternal age on sperm quality, reproductive outcome and associated epigenetic risks to offspring. Reprod Biol Endocrinol (2015) 0.80
Advanced paternal age effects in neurodevelopmental disorders-review of potential underlying mechanisms. Transl Psychiatry (2017) 0.80
Myhre and LAPS syndromes: clinical and molecular review of 32 patients. Eur J Hum Genet (2014) 0.80
Paternal age and offspring congenital heart defects: a national cohort study. PLoS One (2015) 0.79
The fibroblast growth factor receptor 2 p.Ala172Phe mutation in Pfeiffer syndrome--history repeating itself. Am J Med Genet A (2013) 0.79
Paternal age effects on sperm FOXK1 and KCNA7 methylation and transmission into the next generation. Hum Mol Genet (2016) 0.78
Propagation of adult SSCs: from mouse to human. Biomed Res Int (2013) 0.78
Evidence for paternal age-related alterations in meiotic chromosome dynamics in the mouse. Genetics (2013) 0.78
Republished: Non-heritable genetics of human disease: spotlight on post-zygotic genetic variation acquired during lifetime. Postgrad Med J (2013) 0.77
Effect of parental age on treatment response in adolescents with schizophrenia. Schizophr Res (2013) 0.76
Germline Stem Cell Competition, Mutation Hot Spots, Genetic Disorders, and Older Fathers. Annu Rev Genomics Hum Genet (2016) 0.76
Effects of aging on the male reproductive system. J Assist Reprod Genet (2016) 0.76
Paternal age and mental health of offspring. Fertil Steril (2015) 0.76
The 3rd Schizophrenia International Research Society Conference, 14-18 April 2012, Florence, Italy: summaries of oral sessions. Schizophr Res (2012) 0.76
Parental age affects somatic mutation rates in the progeny of flowering plants. Plant Physiol (2015) 0.76
Cellular correlates of selfish spermatogonial selection. Andrology (2016) 0.75
Treatment timing and multidisciplinary approach in Apert syndrome. Ann Stomatol (Roma) (2015) 0.75
The effect of parental age on the presence of de novo mutations - Lessons from neurofibromatosis type I. Mol Genet Genomic Med (2016) 0.75
The sperm's tale. Investig Genet (2014) 0.75
Spermatogonial Stem Cells: Implications for Genetic Disorders and Prevention. Stem Cells Dev (2016) 0.75
Clinical genetics of craniosynostosis. Curr Opin Pediatr (2017) 0.75
Whole-genome sequencing of spermatocytic tumors provides insights into the mutational processes operating in the male germline. PLoS One (2017) 0.75
The Age of the Father. Mol Syndromol (2017) 0.75
A pilgrim's progress: Seeking meaning in primordial germ cell migration. Stem Cell Res (2017) 0.75
Ultra-sensitive Sequencing Identifies High Prevalence of Clonal Hematopoiesis-Associated Mutations throughout Adult Life. Am J Hum Genet (2017) 0.75
A map of human genome variation from population-scale sequencing. Nature (2010) 121.13
Finding the missing heritability of complex diseases. Nature (2009) 67.95
Real-time DNA sequencing from single polymerase molecules. Science (2008) 29.53
Genome-wide association study identifies novel breast cancer susceptibility loci. Nature (2007) 29.23
Cancer genes and the pathways they control. Nat Med (2004) 24.22
A genome-wide association study identifies alleles in FGFR2 associated with risk of sporadic postmenopausal breast cancer. Nat Genet (2007) 22.96
Analysis of genetic inheritance in a family quartet by whole-genome sequencing. Science (2010) 18.45
Estimate of the mutation rate per nucleotide in humans. Genetics (2000) 15.08
Functional impact of global rare copy number variation in autism spectrum disorders. Nature (2010) 14.66
Exome sequencing in sporadic autism spectrum disorders identifies severe de novo mutations. Nat Genet (2011) 11.94
Strong association of de novo copy number mutations with sporadic schizophrenia. Nat Genet (2008) 10.19
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
Variation in genome-wide mutation rates within and between human families. Nat Genet (2011) 8.84
A de novo paradigm for mental retardation. Nat Genet (2010) 8.57
Direct estimates of human per nucleotide mutation rates at 20 loci causing Mendelian diseases. Hum Mutat (2003) 8.35
A scan for positively selected genes in the genomes of humans and chimpanzees. PLoS Biol (2005) 8.32
Copy number variation in human health, disease, and evolution. Annu Rev Genomics Hum Genet (2009) 7.64
Genomic disorders: molecular mechanisms for rearrangements and conveyed phenotypes. PLoS Genet (2005) 7.60
Spermatogenesis following male germ-cell transplantation. Proc Natl Acad Sci U S A (1994) 7.11
Rate, molecular spectrum, and consequences of human mutation. Proc Natl Acad Sci U S A (2010) 7.07
Whole-genome molecular haplotyping of single cells. Nat Biotechnol (2010) 6.77
A recurrent 16p12.1 microdeletion supports a two-hit model for severe developmental delay. Nat Genet (2010) 6.62
The origins, patterns and implications of human spontaneous mutation. Nat Rev Genet (2000) 6.44
Germ-line mutations of the RET proto-oncogene in multiple endocrine neoplasia type 2A. Nature (1993) 5.81
Rare de novo and transmitted copy-number variation in autistic spectrum disorders. Neuron (2011) 5.78
Regulation of cell fate decision of undifferentiated spermatogonia by GDNF. Science (2000) 5.44
A common sex-dependent mutation in a RET enhancer underlies Hirschsprung disease risk. Nature (2005) 4.92
Growth factors essential for self-renewal and expansion of mouse spermatogonial stem cells. Proc Natl Acad Sci U S A (2004) 4.77
Exome sequencing supports a de novo mutational paradigm for schizophrenia. Nat Genet (2011) 4.67
Rare de novo variants associated with autism implicate a large functional network of genes involved in formation and function of synapses. Neuron (2011) 4.66
Germline rates of de novo meiotic deletions and duplications causing several genomic disorders. Nat Genet (2007) 4.59
Parental age and mutation. Lancet (1955) 4.58
Germline mutations in HRAS proto-oncogene cause Costello syndrome. Nat Genet (2005) 4.47
Accelerated evolution of nervous system genes in the origin of Homo sapiens. Cell (2004) 4.24
Mutations in the gene encoding fibroblast growth factor receptor-3 in achondroplasia. Nature (1994) 4.04
Ribosomal mutations cause p53-mediated dark skin and pleiotropic effects. Nat Genet (2008) 4.02
Increased exonic de novo mutation rate in individuals with schizophrenia. Nat Genet (2011) 4.01
Apert syndrome results from localized mutations of FGFR2 and is allelic with Crouzon syndrome. Nat Genet (1995) 4.01
Direct measure of the de novo mutation rate in autism and schizophrenia cohorts. Am J Hum Genet (2010) 3.69
dMyc transforms cells into super-competitors. Cell (2004) 3.66
Analysis of the transforming potential of the human H-ras gene by random mutagenesis. Proc Natl Acad Sci U S A (1984) 3.64
Evidence for selective advantage of pathogenic FGFR2 mutations in the male germ line. Science (2003) 3.39
Advanced parental age and the risk of autism spectrum disorder. Am J Epidemiol (2008) 3.30
De novo rates and selection of large copy number variation. Genome Res (2010) 3.08
Exclusive paternal origin of new mutations in Apert syndrome. Nat Genet (1996) 3.05
Evolution of primate gene expression. Nat Rev Genet (2006) 3.04
Spontaneous mutation in man. Adv Hum Genet (1975) 2.96
Functional identification of the actual and potential stem cell compartments in mouse spermatogenesis. Dev Cell (2007) 2.95
Thanatophoric dysplasia (types I and II) caused by distinct mutations in fibroblast growth factor receptor 3. Nat Genet (1995) 2.93
DISC1 regulates new neuron development in the adult brain via modulation of AKT-mTOR signaling through KIAA1212. Neuron (2009) 2.72
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. Endocr Rev (2000) 2.59
A regulatory SNP causes a human genetic disease by creating a new transcriptional promoter. Science (2006) 2.58
Advancing paternal age and bipolar disorder. Arch Gen Psychiatry (2008) 2.56
A sequence variant at 4p16.3 confers susceptibility to urinary bladder cancer. Nat Genet (2010) 2.56
Strong male-driven evolution of DNA sequences in humans and apes. Nature (2002) 2.53
FGFs, their receptors, and human limb malformations: clinical and molecular correlations. Am J Med Genet (2002) 2.51
Achondroplasia is defined by recurrent G380R mutations of FGFR3. Am J Hum Genet (1995) 2.43
The birth prevalence rates for the skeletal dysplasias. J Med Genet (1986) 2.40
Spontaneous mutation and parental age in humans. Am J Hum Genet (1987) 2.37
Glial cell-line derived neurotrophic factor-mediated RET signaling regulates spermatogonial stem cell fate. Biol Reprod (2005) 2.35
The RAS/MAPK syndromes: novel roles of the RAS pathway in human genetic disorders. Hum Mutat (2008) 2.31
Single-cell genomics. Nat Methods (2011) 2.24
Parental age and risk of childhood cancers: a population-based cohort study from Sweden. Int J Epidemiol (2006) 2.22
RNA interference and inhibition of MEK-ERK signaling prevent abnormal skeletal phenotypes in a mouse model of craniosynostosis. Nat Genet (2007) 2.22
Specific mutations of the RET proto-oncogene are related to disease phenotype in MEN 2A and FMTC. Nat Genet (1994) 2.14
Bad bones, absent smell, selfish testes: the pleiotropic consequences of human FGF receptor mutations. Cytokine Growth Factor Rev (2005) 2.10
Birth prevalence study of the Apert syndrome. Am J Med Genet (1992) 2.10
A clinical study of Noonan syndrome. Arch Dis Child (1992) 2.07
Replication stress induces genome-wide copy number changes in human cells that resemble polymorphic and pathogenic variants. Am J Hum Genet (2009) 2.07
Glial cell line-derived neurotrophic factor regulation of genes essential for self-renewal of mouse spermatogonial stem cells is dependent on Src family kinase signaling. J Biol Chem (2007) 1.98
Clinical screening as compared with DNA analysis in families with multiple endocrine neoplasia type 2A. N Engl J Med (1994) 1.97
Mouse germ line stem cells undergo rapid and stochastic turnover. Cell Stem Cell (2010) 1.97
Biochemical analysis of pathogenic ligand-dependent FGFR2 mutations suggests distinct pathophysiological mechanisms for craniofacial and limb abnormalities. Hum Mol Genet (2004) 1.92
Strong and weak male mutation bias at different sites in the primate genomes: insights from the human-chimpanzee comparison. Mol Biol Evol (2005) 1.90
Advanced paternal age is associated with impaired neurocognitive outcomes during infancy and childhood. PLoS Med (2009) 1.89
Genomic screening of fibroblast growth-factor receptor 2 reveals a wide spectrum of mutations in patients with syndromic craniosynostosis. Am J Hum Genet (2002) 1.88
Common variants on 8p12 and 1q24.2 confer risk of schizophrenia. Nat Genet (2011) 1.88
Paternal origin of FGFR2 mutations in sporadic cases of Crouzon syndrome and Pfeiffer syndrome. Am J Hum Genet (2000) 1.85
Genotype-phenotype correlation in Costello syndrome: HRAS mutation analysis in 43 cases. J Med Genet (2006) 1.80
Parental age and risk of schizophrenia: a case-control study. Arch Gen Psychiatry (2003) 1.79
Akt mediates self-renewal division of mouse spermatogonial stem cells. Development (2007) 1.79
A functional switch from lung cancer resistance to susceptibility at the Pas1 locus in Kras2LA2 mice. Nat Genet (2006) 1.79
Parent-of-origin effects in multiple endocrine neoplasia type 2B. Am J Hum Genet (1994) 1.79
Paternal factors and schizophrenia risk: de novo mutations and imprinting. Schizophr Bull (2001) 1.75
Activating mutations in FGFR3 and HRAS reveal a shared genetic origin for congenital disorders and testicular tumors. Nat Genet (2009) 1.72
Mutations in fibroblast growth-factor receptor 3 in sporadic cases of achondroplasia occur exclusively on the paternally derived chromosome. Am J Hum Genet (1998) 1.72
Is cell competition relevant to cancer? Nat Rev Cancer (2008) 1.71
De novo copy number variants associated with intellectual disability have a paternal origin and age bias. J Med Genet (2011) 1.69
Paternal age at birth of first child and risk of schizophrenia. Am J Psychiatry (2010) 1.65
Mechanisms for nonrecurrent genomic rearrangements associated with CMT1A or HNPP: rare CNVs as a cause for missing heritability. Am J Hum Genet (2010) 1.65
Maternal age and chromosomally abnormal pregnancies: what we know and what we wish we knew. Curr Opin Pediatr (2009) 1.65
Isolation, characterization, and culture of human spermatogonia. Biol Reprod (2009) 1.64
Noonan syndrome: clinical aspects and molecular pathogenesis. Mol Syndromol (2010) 1.60
Birth prevalence, mutation rate, sex ratio, parents' age, and ethnicity in Apert syndrome. Am J Med Genet (1997) 1.59
OCT2, SSX and SAGE1 reveal the phenotypic heterogeneity of spermatocytic seminoma reflecting distinct subpopulations of spermatogonia. J Pathol (2011) 1.59
Distinct missense mutations of the FGFR3 lys650 codon modulate receptor kinase activation and the severity of the skeletal dysplasia phenotype. Am J Hum Genet (2000) 1.58
Paternal age at birth is an important determinant of offspring telomere length. Hum Mol Genet (2007) 1.58
Adaptive evolution of genes underlying schizophrenia. Proc Biol Sci (2007) 1.58
Diversity, parental germline origin, and phenotypic spectrum of de novo HRAS missense changes in Costello syndrome. Hum Mutat (2007) 1.56
The Human Phenotype Ontology project: linking molecular biology and disease through phenotype data. Nucleic Acids Res (2013) 5.66
Evidence for selective advantage of pathogenic FGFR2 mutations in the male germ line. Science (2003) 3.39
Localized mutations in the gene encoding the cytoskeletal protein filamin A cause diverse malformations in humans. Nat Genet (2003) 3.23
Oculofaciocardiodental and Lenz microphthalmia syndromes result from distinct classes of mutations in BCOR. Nat Genet (2004) 2.72
Growth of the normal skull vault and its alteration in craniosynostosis: insights from human genetics and experimental studies. J Anat (2005) 2.58
A genome-wide association study identifies susceptibility loci for nonsyndromic sagittal craniosynostosis near BMP2 and within BBS9. Nat Genet (2012) 2.12
Mutations of ephrin-B1 (EFNB1), a marker of tissue boundary formation, cause craniofrontonasal syndrome. Proc Natl Acad Sci U S A (2004) 2.01
Genomic screening of fibroblast growth-factor receptor 2 reveals a wide spectrum of mutations in patients with syndromic craniosynostosis. Am J Hum Genet (2002) 1.88
Reduced dosage of ERF causes complex craniosynostosis in humans and mice and links ERK1/2 signaling to regulation of osteogenesis. Nat Genet (2013) 1.87
Craniosynostosis. Eur J Hum Genet (2011) 1.84
Mutations in TCF12, encoding a basic helix-loop-helix partner of TWIST1, are a frequent cause of coronal craniosynostosis. Nat Genet (2013) 1.82
Duplications of noncoding elements 5' of SOX9 are associated with brachydactyly-anonychia. Nat Genet (2009) 1.75
Cell mixing at a neural crest-mesoderm boundary and deficient ephrin-Eph signaling in the pathogenesis of craniosynostosis. Hum Mol Genet (2006) 1.74
Activating mutations in FGFR3 and HRAS reveal a shared genetic origin for congenital disorders and testicular tumors. Nat Genet (2009) 1.72
RAB23 mutations in Carpenter syndrome imply an unexpected role for hedgehog signaling in cranial-suture development and obesity. Am J Hum Genet (2007) 1.72
Reoperation for intracranial hypertension in TWIST1-confirmed Saethre-Chotzen syndrome: a 15-year review. Plast Reconstr Surg (2009) 1.68
Frontorhiny, a distinctive presentation of frontonasal dysplasia caused by recessive mutations in the ALX3 homeobox gene. Am J Hum Genet (2009) 1.57
A variant in the sonic hedgehog regulatory sequence (ZRS) is associated with triphalangeal thumb and deregulates expression in the developing limb. Hum Mol Genet (2008) 1.37
Gain-of-function amino acid substitutions drive positive selection of FGFR2 mutations in human spermatogonia. Proc Natl Acad Sci U S A (2005) 1.35
Missense mutations in the homeodomain of HOXD13 are associated with brachydactyly types D and E. Am J Hum Genet (2003) 1.29
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
Frontometaphyseal dysplasia: mutations in FLNA and phenotypic diversity. Am J Med Genet A (2006) 1.20
Inactivation of IL11 signaling causes craniosynostosis, delayed tooth eruption, and supernumerary teeth. Am J Hum Genet (2011) 1.17
Enlarged parietal foramina caused by mutations in the homeobox genes ALX4 and MSX2: from genotype to phenotype. Eur J Hum Genet (2006) 1.14
Skeletal analysis of the Fgfr3(P244R) mouse, a genetic model for the Muenke craniosynostosis syndrome. Dev Dyn (2009) 1.11
Efficient use of a 'dead-end' GA 5' splice site in the human fibroblast growth factor receptor genes. EMBO J (2003) 1.11
Hearing loss in a mouse model of Muenke syndrome. Hum Mol Genet (2008) 1.07
Nonsense-mediated decay and the molecular pathogenesis of mutations in SALL1 and GLI3. Am J Med Genet A (2007) 1.04
Etiological heterogeneity and clinical characteristics of metopic synostosis: Evidence from a tertiary craniofacial unit. Am J Med Genet A (2010) 1.03
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
Alx4 and Msx2 play phenotypically similar and additive roles in skull vault differentiation. J Anat (2004) 1.02
Atypical Crouzon syndrome with a novel Cys62Arg mutation in FGFR2 presenting with sagittal synostosis. Cleft Palate Craniofac J (2011) 1.00
"Selfish spermatogonial selection": a novel mechanism for the association between advanced paternal age and neurodevelopmental disorders. Am J Psychiatry (2013) 1.00
Contributions of intrinsic mutation rate and selfish selection to levels of de novo HRAS mutations in the paternal germline. Proc Natl Acad Sci U S A (2013) 1.00
Polydactyly in the mouse mutant Doublefoot involves altered Gli3 processing and is caused by a large deletion in cis to Indian hedgehog. Mech Dev (2008) 0.99
An acceptor splice site mutation in HOXD13 results in variable hand, but consistent foot malformations. Am J Med Genet A (2003) 0.98
Rare mutations of FGFR2 causing apert syndrome: identification of the first partial gene deletion, and an Alu element insertion from a new subfamily. Hum Mutat (2009) 0.98
Missing heritability: paternal age effect mutations and selfish spermatogonia. Nat Rev Genet (2010) 0.97
Expanding the phenotype of craniofrontonasal syndrome: two unrelated boys with EFNB1 mutations and congenital diaphragmatic hernia. Eur J Hum Genet (2006) 0.96
Skeletal development is regulated by fibroblast growth factor receptor 1 signalling dynamics. Development (2003) 0.96
Metopic and sagittal synostosis in Greig cephalopolysyndactyly syndrome: five cases with intragenic mutations or complete deletions of GLI3. Eur J Hum Genet (2011) 0.96
Paternal origin of FGFR3 mutations in Muenke-type craniosynostosis. Hum Genet (2004) 0.95
FGFR3 P250R mutation increases the risk of reoperation in apparent 'nonsyndromic' coronal craniosynostosis. J Craniofac Surg (2005) 0.95
Postzygotic mutation and germline mosaicism in the otopalatodigital syndrome spectrum disorders. Eur J Hum Genet (2006) 0.94
Parietal foramina with cleidocranial dysplasia is caused by mutation in MSX2. Eur J Hum Genet (2003) 0.93
A new locus for split hand/foot malformation with long bone deficiency (SHFLD) at 2q14.2 identified from a chromosome translocation. Hum Genet (2007) 0.91
Germline and somatic mosaicism for FGFR2 mutation in the mother of a child with Crouzon syndrome: Implications for genetic testing in "paternal age-effect" syndromes. Am J Med Genet A (2010) 0.91
Functional analysis of natural mutations in two TWIST protein motifs. Hum Mutat (2005) 0.90
Frank-ter Haar syndrome associated with sagittal craniosynostosis and raised intracranial pressure. BMC Med Genet (2012) 0.89
Mutations in multidomain protein MEGF8 identify a Carpenter syndrome subtype associated with defective lateralization. Am J Hum Genet (2012) 0.89
Fibroblast growth factor receptor 2, gain-of-function mutations, and tumourigenesis: investigating a potential link. J Pathol (2005) 0.85
Carpenter syndrome: extended RAB23 mutation spectrum and analysis of nonsense-mediated mRNA decay. Hum Mutat (2011) 0.85
Implications of a vertex bulge following modified strip craniectomy for sagittal synostosis. Plast Reconstr Surg (2008) 0.85
Selfish spermatogonial selection: evidence from an immunohistochemical screen in testes of elderly men. PLoS One (2012) 0.85
A further mutation of the FGFR2 tyrosine kinase domain in mild Crouzon syndrome. Eur J Hum Genet (2005) 0.85
A deletion of FGFR2 creating a chimeric IIIb/IIIc exon in a child with Apert syndrome. BMC Med Genet (2011) 0.82
Scalp fibroblasts have a shared expression profile in monogenic craniosynostosis. J Med Genet (2009) 0.81
Mutational screening of FGFR1, CER1, and CDON in a large cohort of trigonocephalic patients. Cleft Palate Craniofac J (2006) 0.81
Cancer drugs to treat birth defects. Nat Genet (2007) 0.81
Recessive omodysplasia: five new cases and review of the literature. Pediatr Radiol (2003) 0.80
The fibroblast growth factor receptor 2 p.Ala172Phe mutation in Pfeiffer syndrome--history repeating itself. Am J Med Genet A (2013) 0.79
Pure de novo partial trisomy 6p in a girl with craniosynostosis. Am J Med Genet A (2013) 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
Raised intracranial pressure is frequent in untreated nonsyndromic unicoronal synostosis and does not correlate with severity of phenotypic features. Plast Reconstr Surg (2012) 0.79
Monozygotic twins discordant for frontonasal malformation. Am J Med Genet A (2004) 0.79
Homozygous SALL1 mutation causes a novel multiple congenital anomaly-mental retardation syndrome. J Pediatr (2012) 0.78
Clinical hypochondroplasia in a family caused by a heterozygous double mutation in FGFR3 encoding GLY380LYS. Am J Med Genet A (2007) 0.77
Genetic aspects of birth defects: new understandings of old problems. Arch Dis Child Fetal Neonatal Ed (2007) 0.75
Median facial cleft dysmorphism in three siblings: case report and review of the literature. Letter. Cleft Palate Craniofac J (2010) 0.75
'Sifting the significance from the data' - the impact of high-throughput genomic technologies on human genetics and health care. Hum Genomics (2012) 0.75
Abnormal spliceform expression associated with splice acceptor mutations in exon IIIc of FGFR2. Am J Med Genet (2002) 0.75