Found: 33
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CffDNA screening for Niemann-pick disease, type C1: a case series.
- Published in:
- Frontiers in Medicine, 2024, p. 01, doi. 10.3389/fmed.2024.1390693
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- Publication type:
- Article
Contribution of uniparental disomy in a clinical trio exome cohort of 2675 patients.
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- Molecular Genetics & Genomic Medicine, 2021, v. 9, n. 11, p. 1, doi. 10.1002/mgg3.1792
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- Publication type:
- Article
PPP3CA truncating variants clustered in the regulatory domain cause early‐onset refractory epilepsy.
- Published in:
- Clinical Genetics, 2021, v. 100, n. 2, p. 227, doi. 10.1111/cge.13979
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- Publication type:
- Article
Heterozygous variants in SPTBN1 cause intellectual disability and autism.
- Published in:
- American Journal of Medical Genetics. Part A, 2021, v. 185, n. 7, p. 2037, doi. 10.1002/ajmg.a.62201
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- Publication type:
- Article
A clinical survey of mosaic single nucleotide variants in disease-causing genes detected by exome sequencing.
- Published in:
- Genome Medicine, 2019, v. 11, n. 1, p. N.PAG, doi. 10.1186/s13073-019-0658-2
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- Publication type:
- Article
Extracutaneous manifestations in phacomatosis cesioflammea and cesiomarmorata: Case series and literature review.
- Published in:
- American Journal of Medical Genetics. Part A, 2019, v. 179, n. 6, p. 966, doi. 10.1002/ajmg.a.61134
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- Publication type:
- Article
Two de novo novel mutations in one <italic>SHANK3</italic> allele in a patient with autism and moderate intellectual disability.
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- American Journal of Medical Genetics. Part A, 2018, v. 176, n. 4, p. 973, doi. 10.1002/ajmg.a.38622
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- Publication type:
- Article
De novo apparent loss-of-function mutations in <italic>PRR12</italic> in three patients with intellectual disability and iris abnormalities.
- Published in:
- Human Genetics, 2018, v. 137, n. 3, p. 257, doi. 10.1007/s00439-018-1877-0
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- Publication type:
- Article
Clinical and molecular characterization of de novo loss of function variants in HNRNPU.
- Published in:
- American Journal of Medical Genetics. Part A, 2017, v. 173, n. 10, p. 2680, doi. 10.1002/ajmg.a.38388
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- Publication type:
- Article
Renal cell carcinoma harboring somatic TSC2 mutations in a child with methylmalonic acidemia.
- Published in:
- 2017
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- Publication type:
- journal article
Whole exome sequencing identifies the first STRADA point mutation in a patient with polyhydramnios, megalencephaly, and symptomatic epilepsy syndrome (PMSE).
- Published in:
- American Journal of Medical Genetics. Part A, 2016, v. 170A, n. 8, p. 2181, doi. 10.1002/ajmg.a.37727
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- Publication type:
- Article
Is Whole-Exome Sequencing an Ethically Disruptive Technology? Perspectives of Pediatric Oncologists and Parents of Pediatric Patients With Solid Tumors.
- Published in:
- 2016
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- Publication type:
- journal article
A visual and curatorial approach to clinical variant prioritization and disease gene discovery in genome-wide diagnostics.
- Published in:
- Genome Medicine, 2016, v. 8, p. 1, doi. 10.1186/s13073-016-0261-8
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- Publication type:
- Article
Mutations in the nuclear bile acid receptor FXR cause progressive familial intrahepatic cholestasis.
- Published in:
- Nature Communications, 2016, v. 7, n. 2, p. 10713, doi. 10.1038/ncomms10713
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- Publication type:
- Article
Reproductive genetic counseling challenges associated with diagnostic exome sequencing in a large academic private reproductive genetic counseling practice.
- Published in:
- 2015
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- Publication type:
- journal article
Obtaining informed consent for clinical tumor and germline exome sequencing of newly diagnosed childhood cancer patients.
- Published in:
- Genome Medicine, 2014, v. 6, n. 9, p. 1, doi. 10.1186/s13073-014-0069-3
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- Publication type:
- Article
ASSESSING THE UTILITY OF CLINICAL TUMOR SEQUENCING IN THE PEDIATRIC NEURO-ONCOLOGY CLINIC.
- Published in:
- Neuro-Oncology, 2014, v. 16, n. suppl_3, p. iii24, doi. 10.1093/neuonc/nou208.5
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- Publication type:
- Article
Evidence for replicative mechanism in a CHD7 rearrangement in a patient with CHARGE syndrome.
- Published in:
- American Journal of Medical Genetics. Part A, 2013, v. 161A, n. 12, p. 3182, doi. 10.1002/ajmg.a.36178
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- Publication type:
- Article
Clinical Application of Whole-Exome Sequencing.
- Published in:
- JAMA Neurology, 2013, v. 70, n. 6, p. 788, doi. 10.1001/jamaneurol.2013.247
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- Publication type:
- Article
Mutations in SYNGAP1 Cause Intellectual Disability, Autism, and a Specific Form of Epilepsy by Inducing Haploinsufficiency.
- Published in:
- Human Mutation, 2013, v. 34, n. 2, p. 385, doi. 10.1002/humu.22248
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- Publication type:
- Article
A Novel STXBP1 Mutation Causes Focal Seizures With Neonatal Onset.
- Published in:
- Journal of Child Neurology, 2012, v. 27, n. 6, p. 811, doi. 10.1177/0883073811435246
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- Publication type:
- Article
Multiplex ligation-dependent probe amplification (MLPA) and prenatal diagnosis.
- Published in:
- Prenatal Diagnosis, 2012, v. 32, n. 4, p. 315, doi. 10.1002/pd.3860
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- Publication type:
- Article
LCR-initiated rearrangements at the IDS locus, completed with Alu-mediated recombination or non-homologous end joining.
- Published in:
- Journal of Human Genetics, 2011, v. 56, n. 7, p. 516, doi. 10.1038/jhg.2011.51
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- Publication type:
- Article
Regional genomic instability predisposes to complex dystrophin gene rearrangements.
- Published in:
- Human Genetics, 2009, v. 126, n. 3, p. 411, doi. 10.1007/s00439-009-0679-9
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- Publication type:
- Article
Clinical use of array comparative genomic hybridization (aCGH) for prenatal diagnosis in 300 cases.
- Published in:
- Prenatal Diagnosis, 2009, v. 29, n. 1, p. 29, doi. 10.1002/pd.2127
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- Publication type:
- Article
Molecular diagnosis of Duchenne/Becker muscular dystrophy: enhanced detection of dystrophin gene rearrangements by oligonucleotide array-comparative genomic hybridization.
- Published in:
- Human Mutation, 2008, v. 29, n. 9, p. 1100, doi. 10.1002/humu.20841
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- Publication type:
- Article
Fabry disease: Detection of undiagnosed hemodialysis patients and identification of a “renal variant” phenotype<sup>1</sup>.
- Published in:
- Kidney International, 2003, v. 64, n. 3, p. 801, doi. 10.1046/j.1523-1755.2003.00160.x
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- Publication type:
- Article
Molecular exclusion of haemoglobin SD disease by prenatal diagnosis.
- Published in:
- Prenatal Diagnosis, 1999, v. 19, n. 1, p. 58, doi. 10.1002/(SICI)1097-0223(199901)19:1<58::AID-PD453>3.0.CO;2-1
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- Publication type:
- Article
Prenatal genetic carrier testing using triple disease screening.
- Published in:
- JAMA: Journal of the American Medical Association, 1997, v. 278, n. 15, p. 1268, doi. 10.1001/jama.1997.03550150072038
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- Publication type:
- Article
MOLECULAR PRENATAL DIAGNOSIS OF GLYCOGEN STORAGE DISEASE TYPE Ia.
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- Prenatal Diagnosis, 1996, v. 16, n. 4, p. 333, doi. 10.1002/(SICI)1097-0223(199604)16:4<333::AID-PD861>3.0.CO;2-G
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- Publication type:
- Article
Fabry disease: twenty-three mutations including sense and antisense CpG alterations and identification of a deletional hot-spot in the α-galactosidase A gene.
- Published in:
- Human Molecular Genetics, 1994, v. 3, n. 10, p. 1795
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- Publication type:
- Article
Molecular basis of fabry disease: Mutations and polymorphisms in the human α-galactosidase A gene.
- Published in:
- Human Mutation, 1994, v. 3, n. 2, p. 103, doi. 10.1002/humu.1380030204
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- Publication type:
- Article
Fabry disease: an unusual cause of severe coronary disease in a young man.
- Published in:
- 1992
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- Publication type:
- journal article