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A novel biallelic loss-of-function variant in DAND5 causes heterotaxy syndrome.
- Published in:
- Cold Spring Harbor Molecular Case Studies, 2022, v. 8, n. 7, p. 1, doi. 10.1101/mcs.a006248
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- Publication type:
- Article
Expanding the phenotype of ATP6AP1 deficiency.
- Published in:
- Cold Spring Harbor Molecular Case Studies, 2022, v. 8, n. 4, p. 1, doi. 10.1101/mcs.a006195
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- Publication type:
- Article
Whole-exome sequencing detects PYGM variants in two adults with McArdle disease.
- Published in:
- Cold Spring Harbor Molecular Case Studies, 2022, v. 8, n. 2, p. 1, doi. 10.1101/mcs.a006173
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- Publication type:
- Article
Metastatic pediatric sclerosing epithelioid fibrosarcoma.
- Published in:
- Cold Spring Harbor Molecular Case Studies, 2021, v. 7, n. 5, p. 1, doi. 10.1101/mcs.a006093
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- Publication type:
- Article
Impact of Receiving Secondary Results from Genomic Research: A 12-Month Longitudinal Study.
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- Journal of Genetic Counseling, 2018, v. 27, n. 3, p. 709, doi. 10.1007/s10897-017-0172-x
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- Publication type:
- Article
The Medical Genome Initiative: moving whole-genome sequencing for rare disease diagnosis to the clinic.
- Published in:
- Genome Medicine, 2020, v. 12, n. 1, p. 1, doi. 10.1186/s13073-020-00748-z
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- Publication type:
- Article
Using FISH to increase the yield and accuracy of karyotypes from spontaneous abortion specimens.
- Published in:
- Prenatal Diagnosis, 2011, v. 31, n. 8, p. 755, doi. 10.1002/pd.2759
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- Publication type:
- Article
Peripheral T-cell lymphoma emerging in a patient with aggressive polymyositis: molecular evidence for neoplastic transformation of an oligoclonal T-cell infiltrate.
- Published in:
- 2013
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- Publication type:
- Report
Mutations in the Cholesterol Transporter Gene <i>ABCA5</i> Are Associated with Excessive Hair Overgrowth.
- Published in:
- PLoS Genetics, 2014, v. 10, n. 5, p. 1, doi. 10.1371/journal.pgen.1004333
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- Publication type:
- Article
Indel variant analysis of short-read sequencing data with Scalpel.
- Published in:
- Nature Protocols, 2016, v. 11, n. 12, p. 2529, doi. 10.1038/nprot.2016.150
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- Publication type:
- Article
The best of both worlds: Blending cutting‐edge research with clinical processes for a productive exome clinic.
- Published in:
- Clinical Genetics, 2024, v. 105, n. 1, p. 62, doi. 10.1111/cge.14437
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- Publication type:
- Article
Congenital hypothyroidism and thyroid dyshormonogenesis: a case report of siblings with a newly identified mutation in thyroperoxidase.
- Published in:
- Journal of Pediatric Endocrinology & Metabolism, 2016, v. 29, n. 5, p. 627, doi. 10.1515/jpem-2015-0253
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- Publication type:
- Article
A unique case of der(11)t(11;22),-22 arising from 3:1 segregation of a maternal t(11;22) in a family with co-segregation of the translocation and breast cancer.
- Published in:
- Prenatal Diagnosis, 2005, v. 25, n. 8, p. 683, doi. 10.1002/pd.1196
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- Publication type:
- Article
Clinical whole exome sequencing from dried blood spot identifies novel genetic defect underlying asparagine synthetase deficiency.
- Published in:
- Clinical Case Reports, 2018, v. 6, n. 1, p. 200, doi. 10.1002/ccr3.1284
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- Publication type:
- Article
Deep whole-genome sequencing of 3 cancer cell lines on 2 sequencing platforms.
- Published in:
- Scientific Reports, 2019, v. 9, n. 1, p. 1, doi. 10.1038/s41598-019-55636-3
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- Publication type:
- Article
Indolent Small Intestinal CD4+ T-cell Lymphoma Is a Distinct Entity with Unique Biologic and Clinical Features.
- Published in:
- PLoS ONE, 2013, v. 8, n. 7, p. 1, doi. 10.1371/journal.pone.0068343
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- Publication type:
- Article
Multiplex interphase FISH as a screen for common aneuploidies in spontaneous abortions.
- Published in:
- 2002
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- Publication type:
- journal article
The contribution of de novo and rare inherited copy number changes to congenital heart disease in an unselected sample of children with conotruncal defects or hypoplastic left heart disease.
- Published in:
- Human Genetics, 2014, v. 133, n. 1, p. 11, doi. 10.1007/s00439-013-1353-9
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- Publication type:
- Article
Case Report: Prenatal Identification of a De Novo Mosaic Neocentric Marker Resulting in 13q31.1→qter Tetrasomy in a Mildly Affected Girl.
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- 2022
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- Publication type:
- Case Study
3q27.1 microdeletion causes prenatal and postnatal growth restriction and neurodevelopmental abnormalities.
- Published in:
- 2022
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- Publication type:
- Case Study
Phenotypic expansion and progression of <italic>SPATA7</italic>-associated retinitis pigmentosa.
- Published in:
- 2018
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- Publication type:
- Case Study
Advancing access to genome sequencing for rare genetic disorders: recent progress and call to action.
- Published in:
- NPJ Genomic Medicine, 2024, v. 9, n. 1, p. 1, doi. 10.1038/s41525-024-00410-2
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- Publication type:
- Article
Evidence review and considerations for use of first line genome sequencing to diagnose rare genetic disorders.
- Published in:
- NPJ Genomic Medicine, 2024, v. 9, n. 1, p. 1, doi. 10.1038/s41525-024-00396-x
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- Publication type:
- Article
Best practices for the interpretation and reporting of clinical whole genome sequencing.
- Published in:
- NPJ Genomic Medicine, 2022, v. 7, n. 1, p. 1, doi. 10.1038/s41525-022-00295-z
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- Publication type:
- Article
Clinical utility of genomic sequencing: a measurement toolkit.
- Published in:
- NPJ Genomic Medicine, 2020, v. 5, n. 1, p. 1, doi. 10.1038/s41525-020-00164-7
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- Publication type:
- Article
Best practices for the analytical validation of clinical whole-genome sequencing intended for the diagnosis of germline disease.
- Published in:
- NPJ Genomic Medicine, 2020, v. 5, n. 1, p. N.PAG, doi. 10.1038/s41525-020-00154-9
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- Publication type:
- Article
Whole-Exome Sequencing in Adults With Chronic Kidney Disease: A Pilot Study.
- Published in:
- 2018
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- Publication type:
- journal article
Duplication of the ZIC2 gene is not associated with holoprosencephaly.
- Published in:
- American Journal of Medical Genetics. Part A, 2012, v. 158A, n. 1, p. 103, doi. 10.1002/ajmg.a.34375
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- Publication type:
- Article
The proximal chromosome 14q microdeletion syndrome: Delineation of the phenotype using high resolution SNP oligonucleotide microarray analysis (SOMA) and review of the literature.
- Published in:
- American Journal of Medical Genetics. Part A, 2011, v. 155A, n. 8, p. 1884, doi. 10.1002/ajmg.a.34090
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- Publication type:
- Article
RNA Sequencing of Primary Cutaneous and Breast-Implant Associated Anaplastic Large Cell Lymphomas Reveals Infrequent Fusion Transcripts and Upregulation of PI3K/AKT Signaling via Neurotrophin Pathway Genes.
- Published in:
- Cancers, 2021, v. 13, n. 24, p. 6174, doi. 10.3390/cancers13246174
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- Publication type:
- Article
G6PD Deficiency in an HIV Clinic Setting in the Dominican Republic.
- Published in:
- American Journal of Tropical Medicine & Hygiene, 2015, v. 93, n. 4, p. 722, doi. 10.4269/ajtmh.14-0295
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- Publication type:
- Article
Practical diagnostic approaches to composite plasma cell neoplasm and low grade B-cell lymphoma/clonal infiltrates in the bone marrow.
- Published in:
- Hematological Oncology, 2015, v. 33, n. 1, p. 31, doi. 10.1002/hon.2129
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- Publication type:
- Article
Clinical exome sequencing for inherited retinal degenerations at a tertiary care center.
- Published in:
- Scientific Reports, 2022, v. 12, n. 1, p. 1, doi. 10.1038/s41598-022-13026-2
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- Publication type:
- Article
Bohring-Opitz Syndrome (BOS) with a New ASXL1 Pathogenic Variant: Review of the Most Prevalent Molecular and Phenotypic Features of the Syndrome.
- Published in:
- American Journal of Medical Genetics. Part A, 2015, v. 167A, n. 12, p. 3161, doi. 10.1002/ajmg.a.37342
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- Publication type:
- Article
Compound heterozygous inheritance of two novel COQ2 variants results in familial coenzyme Q deficiency.
- Published in:
- 2020
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- Publication type:
- journal article
Molecular genetics of schizophrenia: a critical review.
- Published in:
- Journal of Psychiatry & Neuroscience, 2003, v. 28, n. 6, p. 415
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- Publication type:
- Article
High‐resolution genomic alterations in Barrett's metaplasia of patients who progress to esophageal dysplasia and adenocarcinoma.
- Published in:
- International Journal of Cancer, 2019, v. 145, n. 10, p. 2754, doi. 10.1002/ijc.32351
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- Publication type:
- Article