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Clin.iobio : A Collaborative Diagnostic Workflow to Enable Team-Based Precision Genomics.
- Published in:
- Journal of Personalized Medicine, 2022, v. 12, n. 1, p. 73, doi. 10.3390/jpm12010073
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- Publication type:
- Article
De novo variants in PAK1 lead to intellectual disability with macrocephaly and seizures.
- Published in:
- 2019
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- Publication type:
- journal article
Potential Second-Hits in Hereditary Hemorrhagic Telangiectasia.
- Published in:
- Journal of Clinical Medicine, 2020, v. 9, n. 11, p. 3571, doi. 10.3390/jcm9113571
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- Publication type:
- Article
Novel PLP1 Mutations Identified With Next-Generation Sequencing Expand the Spectrum of PLP1-Associated Leukodystrophy Clinical Phenotypes.
- Published in:
- Child Neurology Open, 2018, v. 5, p. 1, doi. 10.1177/2329048X18789282
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- Publication type:
- Article
Comprehensive variant calling from whole‐genome sequencing identifies a complex inversion that disrupts ZFPM2 in familial congenital diaphragmatic hernia.
- Published in:
- Molecular Genetics & Genomic Medicine, 2022, v. 10, n. 4, p. 1, doi. 10.1002/mgg3.1888
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- Publication type:
- Article
Homozygous GDF2 nonsense mutations result in a loss of circulating BMP9 and BMP10 and are associated with either PAH or an "HHT‐like" syndrome in children.
- Published in:
- Molecular Genetics & Genomic Medicine, 2021, v. 9, n. 12, p. 1, doi. 10.1002/mgg3.1685
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- Publication type:
- Article
Are fetal cells in maternal plasma really there? We think they are.
- Published in:
- Journal of Human Genetics, 2003, v. 48, n. 12, p. 665, doi. 10.1007/s10038-003-0084-5
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- Publication type:
- Article
Inactivating mutations in Drosha mediate vascular abnormalities similar to hereditary hemorrhagic telangiectasia.
- Published in:
- Science Signaling, 2018, v. 11, n. 513, p. 1, doi. 10.1126/scisignal.aan6831
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- Publication type:
- Article
Novel molecular mechanism in Malan syndrome uncovered through genome sequencing reanalysis, exon‐level Array, and RNA sequencing.
- Published in:
- American Journal of Medical Genetics. Part A, 2024, v. 194, n. 5, p. 1, doi. 10.1002/ajmg.a.63516
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- Publication type:
- Article
Expanding the genetic and clinical spectrum of the NONO‐associated X‐linked intellectual disability syndrome.
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- American Journal of Medical Genetics. Part A, 2019, v. 179, n. 5, p. 792, doi. 10.1002/ajmg.a.61091
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- Publication type:
- Article
Tissue‐specific mosaicism in hereditary hemorrhagic telangiectasia: Implications for genetic testing in families.
- Published in:
- American Journal of Medical Genetics. Part A, 2018, v. 176, n. 7, p. 1618, doi. 10.1002/ajmg.a.38695
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- Publication type:
- Article
The spectrum of DNMT3A variants in Tatton-Brown-Rahman syndrome overlaps with that in hematologic malignancies.
- Published in:
- American Journal of Medical Genetics. Part A, 2017, v. 173, n. 11, p. 3022, doi. 10.1002/ajmg.a.38485
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- Publication type:
- Article
Clinical Intrafamilial Variability in Lethal Familial Neonatal Seizure Disorder Caused by TBC1D24 Mutations.
- Published in:
- American Journal of Medical Genetics. Part A, 2016, v. 170, n. 12, p. 3207, doi. 10.1002/ajmg.a.37933
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- Publication type:
- Article
The Fourth International Symposium on Genetic Disorders of the Ras/MAPK pathway.
- Published in:
- American Journal of Medical Genetics. Part A, 2016, v. 170A, n. 8, p. 1959, doi. 10.1002/ajmg.a.37723
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- Publication type:
- Article
RASA1 somatic mutation and variable expressivity in capillary malformation/arteriovenous malformation (CM/AVM) syndrome.
- Published in:
- American Journal of Medical Genetics. Part A, 2016, v. 170A, n. 6, p. 1450, doi. 10.1002/ajmg.a.37613
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- Publication type:
- Article
X chromosome exome sequencing reveals a novel ALG 13 mutation in a nonsyndromic intellectual disability family with multiple affected male siblings.
- Published in:
- American Journal of Medical Genetics. Part A, 2014, v. 164A, n. 1, p. 164, doi. 10.1002/ajmg.a.36233
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- Publication type:
- Article
Candidate locus analysis for PHACE syndrome.
- Published in:
- American Journal of Medical Genetics. Part A, 2012, v. 158A, n. 6, p. 1363, doi. 10.1002/ajmg.a.35341
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- Publication type:
- Article
Variant-specific pathophysiological mechanisms of AFF3 differently influence transcriptome profiles.
- Published in:
- Genome Medicine, 2024, v. 16, n. 1, p. 1, doi. 10.1186/s13073-024-01339-y
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- Publication type:
- Article
Genetic Variants Associated with Port-Wine Stains.
- Published in:
- PLoS ONE, 2015, v. 10, n. 7, p. 1, doi. 10.1371/journal.pone.0133158
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- Publication type:
- Article
Effective variant filtering and expected candidate variant yield in studies of rare human disease.
- Published in:
- NPJ Genomic Medicine, 2021, v. 6, n. 1, p. 1, doi. 10.1038/s41525-021-00227-3
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- Publication type:
- Article
Hereditary hemorrhagic telangiectasia: genetics and molecular diagnostics in a new era.
- Published in:
- Frontiers in Genetics, 2015, v. 5, p. 1, doi. 10.3389/fgene.2015.00001
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- Publication type:
- Article
VarRanker: rapid prioritization of sequence variations associated with human disease.
- Published in:
- BMC Bioinformatics, 2013, v. 14, n. Suppl 13, p. 1, doi. 10.1186/1471-2105-14-S13-S1
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- Publication type:
- Article
A direct comparison of next generation sequencing enrichment methods using an aortopathy gene panel- clinical diagnostics perspective.
- Published in:
- BMC Medical Genomics, 2012, v. 5, n. 1, p. 50, doi. 10.1186/1755-8794-5-50
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- Publication type:
- Article
LUSTR: a new customizable tool for calling genome-wide germline and somatic short tandem repeat variants.
- Published in:
- BMC Genomics, 2024, v. 25, n. 1, p. 1, doi. 10.1186/s12864-023-09935-9
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- Publication type:
- Article
Impaired PIEZO1 function in patients with a novel autosomal recessive congenital lymphatic dysplasia.
- Published in:
- Nature Communications, 2015, v. 6, n. 9, p. 8329, doi. 10.1038/ncomms9329
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- Publication type:
- Article
Targeted gene panel sequencing for the rapid diagnosis of acutely ill infants.
- Published in:
- Molecular Genetics & Genomic Medicine, 2019, v. 7, n. 7, p. N.PAG, doi. 10.1002/mgg3.796
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- Publication type:
- Article
Polycystic kidney disease.
- Published in:
- Contemporary OB/GYN, 2001, v. 46, n. 9, p. 75
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- Publication type:
- Article
Applying a test system for discriminating fetal from maternal cells.
- Published in:
- Prenatal Diagnosis, 2003, v. 23, n. 8, p. 619, doi. 10.1002/pd.656
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- Publication type:
- Article
Specifications of the ACMG/AMP Variant Curation Guidelines for Hereditary Hemorrhagic Telangiectasia Genes--ENG and ACVRL1.
- Published in:
- Human Mutation, 2024, v. 2024, p. 1, doi. 10.1155/2024/3043736
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- Publication type:
- Article
Clinical analysis of PMS2: mutation detection and avoidance of pseudogenes.
- Published in:
- Human Mutation, 2010, v. 31, n. 5, p. 588, doi. 10.1002/humu.21230
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- Publication type:
- Article
Rapid genome sequencing identifies a novel de novo SNAP25 variant for neonatal congenital myasthenic syndrome.
- Published in:
- Cold Spring Harbor Molecular Case Studies, 2022, v. 8, n. 7, p. 1, doi. 10.1101/mcs.a006242
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- Publication type:
- Article
Novel de novo ARCN1 intronic variant causes rhizomelic short stature with microretrognathia and developmental delay.
- Published in:
- Cold Spring Harbor Molecular Case Studies, 2020, v. 6, n. 6, p. 1, doi. 10.1101/mcs.a005728
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- Publication type:
- Article
Parkes Weber syndrome associated with two somatic pathogenic variants in RASA1.
- Published in:
- Cold Spring Harbor Molecular Case Studies, 2020, v. 6, n. 4, p. 1, doi. 10.1101/mcs.a005256
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- Publication type:
- Article
Design and Analytical Validation of Clinical DNA Sequencing Assays.
- Published in:
- 2012
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- Publication type:
- Journal Article
Design and Analytical Validation of Clinical DNA Sequencing Assays.
- Published in:
- Archives of Pathology & Laboratory Medicine, 2012, v. 136, n. 1, p. 41, doi. 10.5858/arpa.2010-0623-OA
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- Publication type:
- Article
Investigation of the Genetic Determinants of Telangiectasia and Solid Organ Arteriovenous Malformation Formation in Hereditary Hemorrhagic Telangiectasia (HHT).
- Published in:
- International Journal of Molecular Sciences, 2024, v. 25, n. 14, p. 7682, doi. 10.3390/ijms25147682
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- Publication type:
- Article
p.R672C Mutation of MYH3 Gene in an Egyptian Infant Presented with Freeman-Sheldon Syndrome.
- Published in:
- Indian Journal of Pediatrics, 2011, v. 78, n. 1, p. 103, doi. 10.1007/s12098-010-0230-y
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- Publication type:
- Article
Combining genetic constraint with predictions of alternative splicing to prioritize deleterious splicing in rare disease studies.
- Published in:
- BMC Bioinformatics, 2022, v. 23, n. 1, p. 1, doi. 10.1186/s12859-022-05041-x
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- Publication type:
- Article
Hemangioma Is Associated with Atopic Disease.
- Published in:
- Otolaryngology-Head & Neck Surgery, 2012, v. 146, n. 2, p. 206, doi. 10.1177/0194599811427242
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- Publication type:
- Article