Found: 29
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Chromoanagenesis Event Underlies a de novo Pericentric and Multiple Paracentric Inversions in a Single Chromosome Causing Coffin–Siris Syndrome.
- Published in:
- Frontiers in Genetics, 2021, v. 12, p. 1, doi. 10.3389/fgene.2021.708348
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- Article
The multiple de novo copy number variant (MdnCNV) phenomenon presents with peri-zygotic DNA mutational signatures and multilocus pathogenic variation.
- Published in:
- Genome Medicine, 2022, v. 14, n. 1, p. 1, doi. 10.1186/s13073-022-01123-w
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- Publication type:
- Article
A biallelic frameshift indel in PPP1R35 as a cause of primary microcephaly.
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- American Journal of Medical Genetics. Part A, 2023, v. 191, n. 3, p. 794, doi. 10.1002/ajmg.a.63080
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- Article
De novo heterozygous variants in SLC30A7 are a candidate cause for Joubert syndrome.
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- American Journal of Medical Genetics. Part A, 2022, v. 188, n. 8, p. 2360, doi. 10.1002/ajmg.a.62872
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- Publication type:
- Article
Novel pathogenic genomic variants leading to autosomal dominant and recessive Robinow syndrome.
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- American Journal of Medical Genetics. Part A, 2021, v. 185, n. 12, p. 3593, doi. 10.1002/ajmg.a.61908
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- Publication type:
- Article
A novel homozygous SLC13A5 whole‐gene deletion generated by Alu/Alu‐mediated rearrangement in an Iraqi family with epileptic encephalopathy.
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- American Journal of Medical Genetics. Part A, 2021, v. 185, n. 7, p. 1972, doi. 10.1002/ajmg.a.62192
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- Article
Wolff–Parkinson–White syndrome: De novo variants and evidence for mutational burden in genes associated with atrial fibrillation.
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- American Journal of Medical Genetics. Part A, 2020, v. 182, n. 6, p. 1387, doi. 10.1002/ajmg.a.61571
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- Publication type:
- Article
Compound heterozygous mutations in NEK8 in siblings with end-stage renal disease with hepatic and cardiac anomalies.
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- American Journal of Medical Genetics. Part A, 2016, v. 170A, n. 3, p. 750, doi. 10.1002/ajmg.a.37512
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- Article
Discordant clinical phenotype in monozygotic twins with Alagille syndrome: Possible influence of non-genetic factors.
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- American Journal of Medical Genetics. Part A, 2016, v. 170A, n. 2, p. 471, doi. 10.1002/ajmg.a.37429
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- Publication type:
- Article
Exome sequencing reveals compound heterozygous mutations in ATP8B1 in a JAG1/NOTCH2 mutation-negative patient with clinically diagnosed Alagille syndrome.
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- American Journal of Medical Genetics. Part A, 2015, v. 167A, n. 4, p. 891, doi. 10.1002/ajmg.a.36946
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- Publication type:
- Article
A genome-wide association study identifies a susceptibility locus for biliary atresia on 2p16.1 within the gene EFEMP1.
- Published in:
- PLoS Genetics, 2018, v. 14, n. 8, p. 1, doi. 10.1371/journal.pgen.1007532
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- Publication type:
- Article
NODAL variants are associated with a continuum of laterality defects from simple D-transposition of the great arteries to heterotaxy.
- Published in:
- Genome Medicine, 2024, v. 16, n. 1, p. 1, doi. 10.1186/s13073-024-01312-9
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- Publication type:
- Article
Exome Sequencing in Individuals with Isolated Biliary Atresia.
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- Scientific Reports, 2020, v. 10, n. 1, p. 1, doi. 10.1038/s41598-020-59379-4
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- Article
Biallelic Variants in the Ectonucleotidase ENTPD1 Cause a Complex Neurodevelopmental Disorder with Intellectual Disability, Distinct White Matter Abnormalities, and Spastic Paraplegia.
- Published in:
- Annals of Neurology, 2022, v. 92, n. 2, p. 304, doi. 10.1002/ana.26381
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- Article
Publisher Correction: Detection of mosaic and population-level structural variants with Sniffles2.
- Published in:
- 2024
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- Correction Notice
Detection of mosaic and population-level structural variants with Sniffles2.
- Published in:
- Nature Biotechnology, 2024, v. 42, n. 10, p. 1571, doi. 10.1038/s41587-023-02024-y
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- Publication type:
- Article
HMZDupFinder: a robust computational approach for detecting intragenic homozygous duplications from exome sequencing data.
- Published in:
- Nucleic Acids Research, 2024, v. 52, n. 4, p. e18, doi. 10.1093/nar/gkad1223
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- Publication type:
- Article
Erratum to: A de novo whole gene deletion of XIAP detected by exome sequencing analysis in very early onset inflammatory bowel disease: a case report.
- Published in:
- 2015
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- Publication type:
- corrected article
A de novo whole gene deletion of XIAP detected by exome sequencing analysis in very early onset inflammatory bowel disease: a case report.
- Published in:
- 2015
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- Publication type:
- journal article
Long read sequencing and expression studies of AHDC1 deletions in Xia‐Gibbs syndrome reveal a novel genetic regulatory mechanism.
- Published in:
- Human Mutation, 2022, v. 43, n. 12, p. 2033, doi. 10.1002/humu.24461
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- Article
Phenotypic expansion in KIF1A‐related dominant disorders: A description of novel variants and review of published cases.
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- Human Mutation, 2020, v. 41, n. 12, p. 2094, doi. 10.1002/humu.24118
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- Publication type:
- Article
Cytogenetically visible inversions are formed by multiple molecular mechanisms.
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- Human Mutation, 2020, v. 41, n. 11, p. 1979, doi. 10.1002/humu.24106
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- Publication type:
- Article
Protein‐elongating mutations in MYH11 are implicated in a dominantly inherited smooth muscle dysmotility syndrome with severe esophageal, gastric, and intestinal disease.
- Published in:
- Human Mutation, 2020, v. 41, n. 5, p. 973, doi. 10.1002/humu.23986
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- Article
Back Cover, Volume 40, Issue 12.
- Published in:
- Human Mutation, 2019, v. 40, n. 12, p. iii, doi. 10.1002/humu.23956
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- Article
Alagille syndrome mutation update: Comprehensive overview of JAG1 and NOTCH2 mutation frequencies and insight into missense variant classification.
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- Human Mutation, 2019, v. 40, n. 12, p. 2197, doi. 10.1002/humu.23879
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- Publication type:
- Article
Marker chromosome genomic structure and temporal origin implicate a chromoanasynthesis event in a family with pleiotropic psychiatric phenotypes.
- Published in:
- Human Mutation, 2018, v. 39, n. 7, p. 939, doi. 10.1002/humu.23537
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- Publication type:
- Article
Heterozygous Deletion of FOXA2 Segregates with Disease in a Family with Heterotaxy, Panhypopituitarism, and Biliary Atresia.
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- Human Mutation, 2015, v. 36, n. 6, p. 631, doi. 10.1002/humu.22786
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- Publication type:
- Article
Validation of Single‐Nucleotide Mosaic Variants Through Droplet Digital PCR.
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- Current Protocols, 2024, v. 4, n. 5, p. 1, doi. 10.1002/cpz1.1041
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- Publication type:
- Article
Distinct patterns of complex rearrangements and a mutational signature of microhomeology are frequently observed in PLP1 copy number gain structural variants.
- Published in:
- Genome Medicine, 2019, v. 11, n. 1, p. N.PAG, doi. 10.1186/s13073-019-0676-0
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- Publication type:
- Article