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Deciphering the complexity of simple chromosomal insertions by genome sequencing.
- Published in:
- Human Genetics, 2021, v. 140, n. 2, p. 361, doi. 10.1007/s00439-020-02210-x
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- Publication type:
- Article
4p16.3 microdeletions and microduplications detected by chromosomal microarray analysis: New insights into mechanisms and critical regions.
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- American Journal of Medical Genetics. Part A, 2016, v. 170A, n. 10, p. 2540, doi. 10.1002/ajmg.a.37796
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- Publication type:
- Article
Refinement of the postnatal growth restriction locus of chromosome 5q12-13 deletion syndrome.
- Published in:
- American Journal of Medical Genetics. Part A, 2015, v. 167A, n. 11, p. 2737, doi. 10.1002/ajmg.a.37228
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- Publication type:
- Article
A de novo 1.58 Mb deletion, including MAP2K6 and mapping 1.28 Mb upstream to SOX9, identified in a patient with Pierre Robin sequence and osteopenia with multiple fractures.
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- American Journal of Medical Genetics. Part A, 2015, v. 167A, n. 8, p. 1842, doi. 10.1002/ajmg.a.37057
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- Publication type:
- Article
A child with an inherited 0.31 Mb microdeletion of chromosome 14q32.33: Further delineation of a critical region for the 14q32 deletion syndrome.
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- American Journal of Medical Genetics. Part A, 2012, v. 158A, n. 8, p. 1962, doi. 10.1002/ajmg.a.35289
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- Publication type:
- Article
Increased gene copy number of VAMP7 disrupts human male urogenital development through altered estrogen action.
- Published in:
- Nature Medicine, 2014, v. 20, n. 7, p. 715, doi. 10.1038/nm.3580
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- Publication type:
- Article
Mutations in the chromatin modifier gene KANSL1 cause the 17q21.31 microdeletion syndrome.
- Published in:
- Nature Genetics, 2012, v. 44, n. 6, p. 639, doi. 10.1038/ng.2262
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- Publication type:
- Article
Inverted genomic segments and complex triplication rearrangements are mediated by inverted repeats in the human genome.
- Published in:
- Nature Genetics, 2011, v. 43, n. 11, p. 1074, doi. 10.1038/ng.944
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- Publication type:
- Article
A small recurrent deletion within 15q13.3 is associated with a range of neurodevelopmental phenotypes.
- Published in:
- Nature Genetics, 2009, v. 41, n. 12, p. 1269, doi. 10.1038/ng.481
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- Publication type:
- Article
Prader-Willi phenotype caused by paternal deficiency for the HBII-85 C/D box small nucleolar RNA cluster.
- Published in:
- Nature Genetics, 2008, v. 40, n. 6, p. 719, doi. 10.1038/ng.158
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- Publication type:
- Article
Aberrations in pseudoautosomal regions (PARs) found in infertile men with Y-chromosome microdeletions.
- Published in:
- 2011
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- Publication type:
- journal article
First trimester chorionic villus sampling versus mid-trimester genetic amniocentesis--preliminary results of a controlled prospective trial.
- Published in:
- 1988
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- Publication type:
- journal article
Genotype, Phenotype, and Karyotype Correlation in the XO Mouse Model of Turner Syndrome.
- Published in:
- Journal of Heredity, 2008, v. 99, n. 5, p. 512, doi. 10.1093/jhered/esn027
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- Publication type:
- Article
Identification of Critical Regions and Candidate Genes for Cardiovascular Malformations and Cardiomyopathy Associated with Deletions of Chromosome 1p36.
- Published in:
- PLoS ONE, 2014, v. 9, n. 1, p. 1, doi. 10.1371/journal.pone.0085600
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- Publication type:
- Article
Identification of De Novo Copy Number Variants Associated with Human Disorders of Sexual Development.
- Published in:
- PLoS ONE, 2010, v. 5, n. 10, p. 1, doi. 10.1371/journal.pone.0015392
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- Publication type:
- Article
Targeted gene panel sequencing prenatally detects two novel mutations of DYNC2H1 in a fetus with increased biparietal diameter and polyhydramnios.
- Published in:
- Birth Defects Research, 2018, v. 110, n. 4, p. 364, doi. 10.1002/bdr2.1146
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- Publication type:
- Article
Redefined genomic architecture in 15q24 directed by patient deletion/duplication breakpoint mapping.
- Published in:
- Human Genetics, 2009, v. 126, n. 4, p. 589, doi. 10.1007/s00439-009-0706-x
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- Publication type:
- Article
Male-to-female sex reversal associated with an ∼250 kb deletion upstream of NR0B1 ( DAX1).
- Published in:
- Human Genetics, 2007, v. 122, n. 1, p. 63, doi. 10.1007/s00439-007-0373-8
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- Publication type:
- Article
BAFopathies’ DNA methylation epi-signatures demonstrate diagnostic utility and functional continuum of Coffin-Siris and Nicolaides-Baraitser syndromes.
- Published in:
- Nature Communications, 2018, v. 9, n. 1, p. 1, doi. 10.1038/s41467-018-07193-y
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- Publication type:
- Article
Neurodevelopmental and neurobehavioral characteristics in males and females with CDKL5 duplications.
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- European Journal of Human Genetics, 2015, v. 23, n. 7, p. 915, doi. 10.1038/ejhg.2014.217
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- Publication type:
- Article
6q22.1 microdeletion and susceptibility to pediatric epilepsy.
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- European Journal of Human Genetics, 2015, v. 23, n. 2, p. 173, doi. 10.1038/ejhg.2014.75
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- Publication type:
- Article
CHRNA7 triplication associated with cognitive impairment and neuropsychiatric phenotypes in a three-generation pedigree.
- Published in:
- European Journal of Human Genetics, 2014, v. 22, n. 9, p. 1071, doi. 10.1038/ejhg.2013.302
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- Publication type:
- Article
Somatic mosaicism detected by exon-targeted, high-resolution aCGH in 10 362 consecutive cases.
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- European Journal of Human Genetics, 2014, v. 22, n. 8, p. 969, doi. 10.1038/ejhg.2013.285
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- Publication type:
- Article
Combined array CGH plus SNP genome analyses in a single assay for optimized clinical testing.
- Published in:
- European Journal of Human Genetics, 2014, v. 22, n. 1, p. 79, doi. 10.1038/ejhg.2013.77
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- Publication type:
- Article
Intragenic deletions of the IGF1 receptor gene in five individuals with psychiatric phenotypes and developmental delay.
- Published in:
- European Journal of Human Genetics, 2013, v. 21, n. 11, p. 1304, doi. 10.1038/ejhg.2013.42
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- Publication type:
- Article
Detection of copy-number variation in AUTS2 gene by targeted exonic array CGH in patients with developmental delay and autistic spectrum disorders.
- Published in:
- European Journal of Human Genetics, 2013, v. 21, n. 3, p. 343, doi. 10.1038/ejhg.2012.157
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- Publication type:
- Article
Reply to Amor et al.
- Published in:
- European Journal of Human Genetics, 2012, v. 20, n. 6, p. 597, doi. 10.1038/ejhg.2011.270
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- Publication type:
- Article
Delineation of a deletion region critical for corpus callosal abnormalities in chromosome 1q43-q44.
- Published in:
- European Journal of Human Genetics, 2012, v. 20, n. 2, p. 176, doi. 10.1038/ejhg.2011.171
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- Publication type:
- Article
MECP2 duplications in six patients with complex sex chromosome rearrangements.
- Published in:
- 2011
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- Publication type:
- Correction Notice
The phenotype of recurrent 10q22q23 deletions and duplications.
- Published in:
- European Journal of Human Genetics, 2011, v. 19, n. 4, p. 400, doi. 10.1038/ejhg.2010.211
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- Publication type:
- Article
MECP2 duplications in six patients with complex sex chromosome rearrangements.
- Published in:
- European Journal of Human Genetics, 2011, v. 19, n. 4, p. 409, doi. 10.1038/ejhg.2010.195
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- Publication type:
- Article
Phenotypic manifestations of copy number variation in chromosome 16p13.11.
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- European Journal of Human Genetics, 2011, v. 19, n. 3, p. 280, doi. 10.1038/ejhg.2010.184
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- Publication type:
- Article
Duplications of FOXG1 in 14q12 are associated with developmental epilepsy, mental retardation, and severe speech impairment.
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- European Journal of Human Genetics, 2011, v. 19, n. 1, p. 102, doi. 10.1038/ejhg.2010.142
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- Publication type:
- Article
Exon deletions of the EP300 and CREBBP genes in two children with Rubinstein-Taybi syndrome detected by aCGH.
- Published in:
- 2011
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- Publication type:
- Case Study
Clinical spectrum associated with recurrent genomic rearrangements in chromosome 17q12.
- Published in:
- European Journal of Human Genetics, 2010, v. 18, n. 3, p. 278, doi. 10.1038/ejhg.2009.174
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- Publication type:
- Article
A syndrome of short stature, microcephaly and speech delay is associated with duplications reciprocal to the common Sotos syndrome deletion.
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- European Journal of Human Genetics, 2010, v. 18, n. 2, p. 258, doi. 10.1038/ejhg.2009.164
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- Publication type:
- Article
Interstitial deletion of 6q25.2–q25.3: a novel microdeletion syndrome associated with microcephaly, developmental delay, dysmorphic features and hearing loss.
- Published in:
- European Journal of Human Genetics, 2009, v. 17, n. 5, p. 573, doi. 10.1038/ejhg.2008.220
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- Publication type:
- Article
PTCH1 duplication in a family with microcephaly and mild developmental delay.
- Published in:
- European Journal of Human Genetics, 2009, v. 17, n. 2, p. 267, doi. 10.1038/ejhg.2008.176
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- Publication type:
- Article
Prenatal diagnosis of Wolf-Hirschhorn syndrome: from ultrasound findings, diagnostic technology to genetic counseling.
- Published in:
- 2018
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- Publication type:
- journal article
Y-chromosome microdeletions are not associated with SHOX haploinsufficiency.
- Published in:
- Human Reproduction, 2014, v. 29, n. 5, p. 1113, doi. 10.1093/humrep/deu038
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- Publication type:
- Article
Alu-mediated diverse and complex pathogenic copy-number variants within human chromosome 17 at p13.3.
- Published in:
- Human Molecular Genetics, 2015, v. 24, n. 14, p. 4061, doi. 10.1093/hmg/ddv146
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- Publication type:
- Article
Small rare recurrent deletions and reciprocal duplications in 2q21.1, including brain-specific ARHGEF4 and GPR148.
- Published in:
- Human Molecular Genetics, 2012, v. 21, n. 15, p. 3345, doi. 10.1093/hmg/dds166
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- Publication type:
- Article
Loss of δ-catenin function in severe autism.
- Published in:
- Nature, 2015, v. 520, n. 7545, p. 51, doi. 10.1038/nature14186
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- Publication type:
- Article
SHANK3 overexpression causes manic-like behaviour with unique pharmacogenetic properties.
- Published in:
- Nature, 2013, v. 503, n. 7474, p. 72, doi. 10.1038/nature12630
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- Publication type:
- Article
Complex genomic rearrangement of chromosome 16p13.3 detected by array comparative genomic hybridization in a patient with multiple congenital anomalies, dysmorphic craniofacial features, and developmental delay.
- Published in:
- American Journal of Medical Genetics. Part A, 2011, v. 155A, n. 10, p. 2589, doi. 10.1002/ajmg.a.34185
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- Publication type:
- Article
Whole-exome sequencing identifies compound heterozygous mutations in WDR62 in siblings with recurrent polymicrogyria.
- Published in:
- American Journal of Medical Genetics. Part A, 2011, v. 155A, n. 9, p. 2071, doi. 10.1002/ajmg.a.34165
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- Publication type:
- Article
Identification of complex chromosome 18 rearrangements by FISH and array CGH in two patients with apparent isochromosome 18q.
- Published in:
- American Journal of Medical Genetics. Part A, 2011, v. 155A, n. 6, p. 1465, doi. 10.1002/ajmg.a.33935
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- Publication type:
- Article
TGFBR2 deletion in a 20-month-old female with developmental delay and microcephaly.
- Published in:
- American Journal of Medical Genetics. Part A, 2011, v. 155A, n. 6, p. 1442, doi. 10.1002/ajmg.a.34015
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- Publication type:
- Article
Suspected trisomy 22: Modification, clarification, or confirmation of the diagnosis by aCGH.
- Published in:
- American Journal of Medical Genetics. Part A, 2011, v. 155A, n. 2, p. 434, doi. 10.1002/ajmg.a.33792
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- Publication type:
- Article
Fusion of Large-Scale Genomic Knowledge and Frequency Data Computationally Prioritizes Variants in Epilepsy.
- Published in:
- PLoS Genetics, 2013, v. 9, n. 9, p. 1, doi. 10.1371/journal.pgen.1003797
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- Publication type:
- Article