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‘Sifting the significance from the data’ - the impact of high-throughput genomic technologies on human genetics and health care.
- Published in:
- Human Genomics, 2012, v. 6, n. 1, p. 1, doi. 10.1186/1479-7364-6-11
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- Publication type:
- Article
Development of Erf-Mediated Craniosynostosis and Pharmacological Amelioration.
- Published in:
- International Journal of Molecular Sciences, 2023, v. 24, n. 9, p. 7961, doi. 10.3390/ijms24097961
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- Publication type:
- Article
The developing mouse coronal suture at single-cell resolution.
- Published in:
- Nature Communications, 2021, v. 12, n. 1, p. 1, doi. 10.1038/s41467-021-24917-9
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- Publication type:
- Article
ERF‐related craniosynostosis: The phenotypic and developmental profile of a new craniosynostosis syndrome.
- Published in:
- American Journal of Medical Genetics. Part A, 2019, v. 179, n. 4, p. 615, doi. 10.1002/ajmg.a.61073
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- Publication type:
- Article
Gastrointestinal disorders in Curry-Jones syndrome: Clinical and molecular insights from an affected newborn.
- Published in:
- American Journal of Medical Genetics. Part A, 2017, v. 173, n. 6, p. 1586, doi. 10.1002/ajmg.a.38232
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- Publication type:
- Article
TCF12 microdeletion in a 72-year-old woman with intellectual disability.
- Published in:
- American Journal of Medical Genetics. Part A, 2015, v. 167A, n. 8, p. 1897, doi. 10.1002/ajmg.a.37083
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- Publication type:
- Article
Integrating mapping-, assembly- and haplotype-based approaches for calling variants in clinical sequencing applications.
- Published in:
- Nature Genetics, 2014, v. 46, n. 8, p. 912, doi. 10.1038/ng.3036
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- Publication type:
- Article
A genome-wide association study identifies susceptibility loci for nonsyndromic sagittal craniosynostosis near BMP2 and within BBS9.
- Published in:
- Nature Genetics, 2012, v. 44, n. 12, p. 1360, doi. 10.1038/ng.2463
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- Publication type:
- Article
Activating mutations in FGFR3 and HRAS reveal a shared genetic origin for congenital disorders and testicular tumors.
- Published in:
- Nature Genetics, 2009, v. 41, n. 11, p. 1247, doi. 10.1038/ng.470
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- Publication type:
- Article
Duplications of noncoding elements 5′ of SOX9 are associated with brachydactyly-anonychia.
- Published in:
- 2009
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- Publication type:
- Letter
Cancer drugs to treat birth defects.
- Published in:
- Nature Genetics, 2007, v. 39, n. 9, p. 1057, doi. 10.1038/ng0907-1057
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- Publication type:
- Article
Oculofaciocardiodental and Lenz microphthalmia syndromes result from distinct classes of mutations in BCOR.
- Published in:
- Nature Genetics, 2004, v. 36, n. 4, p. 411, doi. 10.1038/ng1321
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- Publication type:
- Article
A variant in IL6ST with a selective IL-11 signaling defect in human and mouse.
- Published in:
- Bone Research, 2020, v. 8, n. 1, p. 1, doi. 10.1038/s41413-020-0098-z
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- Publication type:
- Article
LETTERS TO THE EDITOR.
- Published in:
- 2010
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- Publication type:
- Letter
The genetics of mental retardation.
- Published in:
- British Medical Bulletin, 1996, v. 52, n. 3, p. 453, doi. 10.1093/oxfordjournals.bmb.a011559
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- Publication type:
- Article
Selfish Spermatogonial Selection: Evidence from an Immunohistochemical Screen in Testes of Elderly Men.
- Published in:
- PLoS ONE, 2012, v. 7, n. 8, p. 1, doi. 10.1371/journal.pone.0042382
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- Publication type:
- Article
Mutational Analysis in X-Linked Spondyloepiphyseal Dysplasia Tarda.
- Published in:
- Journal of Clinical Endocrinology & Metabolism, 2001, v. 86, n. 7, p. 3233, doi. 10.1210/jcem.86.7.7688
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- Publication type:
- Article
Wrong bird.
- Published in:
- Nature, 1988, v. 332, n. 6161, p. 200, doi. 10.1038/332200c0
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- Publication type:
- Article
Missing heritability: paternal age effect mutations and selfish spermatogonia.
- Published in:
- 2010
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- Publication type:
- commentary
GENETICS OF CRANIOFACIAL DEVELOPMENT AND MALFORMATION.
- Published in:
- Nature Reviews Genetics, 2001, v. 2, n. 6, p. 458, doi. 10.1038/35076601
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- Publication type:
- Article
Paternal origin of FGFR3 mutations in Muenke-type craniosynostosis.
- Published in:
- Human Genetics, 2004, v. 115, n. 3, p. 200, doi. 10.1007/s00439-004-1151-5
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- Publication type:
- Article
Next-generation sequencing (NGS) as a diagnostic tool for retinal degeneration reveals a much higher detection rate in early-onset disease.
- Published in:
- European Journal of Human Genetics, 2013, v. 21, n. 9, p. 1031, doi. 10.1038/ejhg.2013.91
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- Publication type:
- Article
Craniosynostosis.
- Published in:
- European Journal of Human Genetics, 2011, v. 19, n. 4, p. 369, doi. 10.1038/ejhg.2010.235
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- Publication type:
- Article
Expanding the phenotype of craniofrontonasal syndrome: two unrelated boys with EFNB1 mutations and congenital diaphragmatic hernia.
- Published in:
- European Journal of Human Genetics, 2006, v. 14, n. 7, p. 884, doi. 10.1038/sj.ejhg.5201633
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- Publication type:
- Article
Postzygotic mutation and germline mosaicism in the otopalatodigital syndrome spectrum disorders.
- Published in:
- European Journal of Human Genetics, 2006, v. 14, n. 5, p. 549, doi. 10.1038/sj.ejhg.5201586
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- Publication type:
- Article
Enlarged parietal foramina caused by mutations in the homeobox genes ALX4 and MSX2: from genotype to phenotype.
- Published in:
- European Journal of Human Genetics, 2006, v. 14, n. 2, p. 151, doi. 10.1038/sj.ejhg.5201526
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- Publication type:
- Article
A further mutation of the FGFR2 tyrosine kinase domain in mild Crouzon syndrome.
- Published in:
- European Journal of Human Genetics, 2005, v. 13, n. 4, p. 503, doi. 10.1038/sj.ejhg.5201325
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- Publication type:
- Article
The impact of chemo- and radiotherapy treatments on selfish de novo FGFR2 mutations in sperm of cancer survivors.
- Published in:
- 2019
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- Publication type:
- journal article
Skeletal analysis of the Fgfr3.
- Published in:
- Developmental Dynamics, 2009, v. 238, n. 2, p. 331, doi. 10.1002/dvdy.21790
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- Publication type:
- Article
Localized TWIST1 and TWIST2 basic domain substitutions cause four distinct human diseases that can be modeled in Caenorhabditis elegans.
- Published in:
- Human Molecular Genetics, 2017, v. 26, n. 11, p. 2118, doi. 10.1093/hmg/ddx107
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- Publication type:
- Article
New insights into craniofacial malformations.
- Published in:
- Human Molecular Genetics, 2015, v. 24, n. 20, p. R50, doi. 10.1093/hmg/ddv228
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- Publication type:
- Article
Gonadal mosaicism and non-invasive prenatal diagnosis for 'reassurance' in sporadic paternal age effect (PAE) disorders.
- Published in:
- 2017
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- Publication type:
- journal article
Dissection of contiguous gene effects for deletions around ERF on chromosome 19.
- Published in:
- Human Mutation, 2021, v. 42, n. 7, p. 811, doi. 10.1002/humu.24213
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- Publication type:
- Article
Disruption of TWIST1 translation by 5′ UTR variants in Saethre‐Chotzen syndrome.
- Published in:
- Human Mutation, 2018, v. 39, n. 10, p. 1360, doi. 10.1002/humu.23598
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- Publication type:
- Article
New germline syndrome with brainstem abnormalities and neuroblastoma, caused by ALK mutation.
- Published in:
- Human Mutation, 2011, v. 32, n. 3, p. v, doi. 10.1002/humu.21487
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- Publication type:
- Article
Carpenter syndrome: extended RAB23 mutation spectrum and analysis of nonsense-mediated mRNA decay.
- Published in:
- Human Mutation, 2011, v. 32, n. 4, p. E2069, doi. 10.1002/humu.21457
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- Publication type:
- Article
A Comparison of Structural Variant Calling from Short-Read and Nanopore-Based Whole-Genome Sequencing Using Optical Genome Mapping as a Benchmark.
- Published in:
- Genes, 2024, v. 15, n. 7, p. 925, doi. 10.3390/genes15070925
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- Publication type:
- Article
Review of Recurrently Mutated Genes in Craniosynostosis Supports Expansion of Diagnostic Gene Panels.
- Published in:
- Genes, 2023, v. 14, n. 3, p. 615, doi. 10.3390/genes14030615
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- Publication type:
- Article
Targeted Sequencing of Candidate Regions Associated with Sagittal and Metopic Nonsyndromic Craniosynostosis.
- Published in:
- Genes, 2022, v. 13, n. 5, p. 816, doi. 10.3390/genes13050816
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- Publication type:
- Article
Growth of the normal skull vault and its alteration in craniosynostosis: insights from human genetics and experimental studies.
- Published in:
- Journal of Anatomy, 2005, v. 207, n. 5, p. 637, doi. 10.1111/j.1469-7580.2005.00475.x
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- Publication type:
- Article
amplimap: a versatile tool to process and analyze targeted NGS data.
- Published in:
- Bioinformatics, 2020, v. 36, n. 8, p. 2643, doi. 10.1093/bioinformatics/btz905
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- Publication type:
- Article
amplimap: a versatile tool to process and analyze targeted NGS data.
- Published in:
- Bioinformatics, 2019, v. 35, n. 24, p. 5349, doi. 10.1093/bioinformatics/btz582
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- Publication type:
- Article
Apert syndrome mutations in fibroblast growth factor receptor 2 exhibit increased affinity for FGF ligand.
- Published in:
- Human Molecular Genetics, 1998, v. 7, n. 9, p. 1475, doi. 10.1093/hmg/7.9.1475
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- Publication type:
- Article
Conserved use of a non-canonical 5′ splice site (/GA) in alternative splicing by fibroblast growth factor receptors 1, 2 and 3.
- Published in:
- Human Molecular Genetics, 1998, v. 7, n. 4, p. 685, doi. 10.1093/hmg/7.4.685
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- Publication type:
- Article
A Novel Phenotypic Pattern in X-Linked Inheritance: Craniofrontonasal Syndrome Maps to Xp22.
- Published in:
- Human Molecular Genetics, 1997, v. 6, n. 11, p. 1937, doi. 10.1093/hmg/6.11.1937
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- Publication type:
- Article
Craniosynostosis: Genes and Mechanisms.
- Published in:
- Human Molecular Genetics, 1997, v. 6, n. 10, p. 1647, doi. 10.1093/hmg/6.10.1647
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- Publication type:
- Article
Genotype-Phenotype Correlation for Nucleotide Substitutions in the IgII-IgIII Linker of FGFR2.
- Published in:
- Human Molecular Genetics, 1997, v. 6, n. 1, p. 137, doi. 10.1093/hmg/6.1.137
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- Publication type:
- Article
Implementation of a genomic medicine multi-disciplinary team approach for rare disease in the clinical setting: a prospective exome sequencing case series.
- Published in:
- Genome Medicine, 2019, v. 11, n. 1, p. N.PAG, doi. 10.1186/s13073-019-0651-9
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- Publication type:
- Article
Whole-genome sequencing of spermatocytic tumors provides insights into the mutational processes operating in the male germline.
- Published in:
- PLoS ONE, 2017, v. 12, n. 5, p. 1, doi. 10.1371/journal.pone.0178169
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- Publication type:
- Article
Apparently synonymous substitutions in FGFR2 affect splicing and result in mild Crouzon syndrome.
- Published in:
- 2014
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- Publication type:
- Case Study