Found: 26
Select item for more details and to access through your institution.
Acromesomelic Dysplasia With Homozygosity for a Likely Pathogenic BMPR1B Variant: Postaxial Polydactyly as a Novel Clinical Finding.
- Published in:
- 2024
- By:
- Publication type:
- Case Study
The allele distribution in next-generation sequencing data sets is accurately described as the result of a stochastic branching process.
- Published in:
- Nucleic Acids Research, 2012, v. 40, n. 6, p. 2426, doi. 10.1093/nar/gkr1073
- By:
- Publication type:
- Article
Computational facial analysis for rare Mendelian disorders.
- Published in:
- American Journal of Medical Genetics. Part C: Seminars in Medical Genetics, 2023, v. 193, n. 3, p. 1, doi. 10.1002/ajmg.c.32061
- By:
- Publication type:
- Article
Understanding recessive disease risk in multi‐ethnic populations with different degrees of consanguinity.
- Published in:
- American Journal of Medical Genetics. Part A, 2024, v. 194, n. 3, p. 1, doi. 10.1002/ajmg.a.63452
- By:
- Publication type:
- Article
Perspectives on the future of dysmorphology.
- Published in:
- American Journal of Medical Genetics. Part A, 2023, v. 191, n. 3, p. 659, doi. 10.1002/ajmg.a.63060
- By:
- Publication type:
- Article
PDE3A mutations cause autosomal dominant hypertension with brachydactyly.
- Published in:
- Nature Genetics, 2015, v. 47, n. 6, p. 647, doi. 10.1038/ng.3302
- By:
- Publication type:
- Article
Identity-by-descent filtering of exome sequence data identifies PIGV mutations in hyperphosphatasia mental retardation syndrome.
- Published in:
- Nature Genetics, 2010, v. 42, n. 10, p. 827, doi. 10.1038/ng.653
- By:
- Publication type:
- Article
Filtering for Compound Heterozygous Sequence Variants in Non-Consanguineous Pedigrees.
- Published in:
- PLoS ONE, 2013, v. 8, n. 8, p. 1, doi. 10.1371/journal.pone.0070151
- By:
- Publication type:
- Article
TBK1 and TNFRSF13B mutations and an autoinflammatory disease in a child with lethal COVID-19.
- Published in:
- NPJ Genomic Medicine, 2021, v. 6, n. 1, p. 1, doi. 10.1038/s41525-021-00220-w
- By:
- Publication type:
- Article
The future role of facial image analysis in ACMG classification guidelines.
- Published in:
- Medizinische Genetik, 2023, v. 35, n. 2, p. 115, doi. 10.1515/medgen-2023-2014
- By:
- Publication type:
- Article
Complement and inflammasome overactivation mediates paroxysmal nocturnal hemoglobinuria with autoinflammation.
- Published in:
- 2019
- By:
- Publication type:
- journal article
Advances in computer-assisted syndrome recognition by the example of inborn errors of metabolism.
- Published in:
- Journal of Inherited Metabolic Disease, 2018, v. 41, n. 3, p. 533, doi. 10.1007/s10545-018-0174-3
- By:
- Publication type:
- Article
Screening for single nucleotide variants, small indels and exon deletions with a next-generation sequencing based gene panel approach for Usher syndrome.
- Published in:
- Molecular Genetics & Genomic Medicine, 2014, v. 2, n. 5, p. 393, doi. 10.1002/mgg3.92
- By:
- Publication type:
- Article
Challenges ahead for matchmaking.
- Published in:
- IT: Information Technology, 2016, v. 58, n. 3, p. 140, doi. 10.1515/itit-2016-0012
- By:
- Publication type:
- Article
Next‐generation phenotyping contributing to the identification of a 4.7 kb deletion in KANSL1 causing Koolen‐de Vries syndrome.
- Published in:
- Human Mutation, 2022, v. 43, n. 11, p. 1659, doi. 10.1002/humu.24467
- By:
- Publication type:
- Article
Reduced cell surface levels of GPI-linked markers in a new case with PIGG loss of function.
- Published in:
- Human Mutation, 2017, v. 38, n. 10, p. 1394, doi. 10.1002/humu.23268
- By:
- Publication type:
- Article
Rare Noncoding Mutations Extend the Mutational Spectrum in the PGAP3 Subtype of Hyperphosphatasia with Mental Retardation Syndrome.
- Published in:
- Human Mutation, 2016, v. 37, n. 8, p. 737, doi. 10.1002/humu.23006
- By:
- Publication type:
- Article
Deeplasia: deep learning for bone age assessment validated on skeletal dysplasias.
- Published in:
- Pediatric Radiology, 2024, v. 54, n. 1, p. 82, doi. 10.1007/s00247-023-05789-1
- By:
- Publication type:
- Article
Facilitating the Molecular Diagnosis of Rare Genetic Disorders Through Facial Phenotypic Scores.
- Published in:
- Current Protocols, 2023, v. 3, n. 10, p. 1, doi. 10.1002/cpz1.906
- By:
- Publication type:
- Article
AI-based multi-PRS models outperform classical single-PRS models.
- Published in:
- Frontiers in Genetics, 2023, p. 1, doi. 10.3389/fgene.2023.1217860
- By:
- Publication type:
- Article
Enhancing Variant Prioritization in VarFish through On-Premise Computational Facial Analysis.
- Published in:
- Genes, 2024, v. 15, n. 3, p. 370, doi. 10.3390/genes15030370
- By:
- Publication type:
- Article
Estimating exome genotyping accuracy by comparing to data from large scale sequencing projects.
- Published in:
- Genome Medicine, 2013, v. 5, n. 7, p. 1, doi. 10.1186/gm473
- By:
- Publication type:
- Article
Künstliche Intelligenz bei der Diagnose Seltener Erkrankungen: die Entwicklung der Phänotyp-Analyse.
- Published in:
- Bundesgesundheitsblatt - Gesundheitsforschung - Gesundheitsschutz, 2022, v. 65, n. 11, p. 1159, doi. 10.1007/s00103-022-03602-2
- By:
- Publication type:
- Article
A likelihood ratio-based method to predict exact pedigrees for complex families from next-generation sequencing data.
- Published in:
- Bioinformatics, 2017, v. 33, n. 1, p. 72, doi. 10.1093/bioinformatics/btw550
- By:
- Publication type:
- Article
Strategies to improve the performance of rare variant association studies by optimizing the selection of controls.
- Published in:
- Bioinformatics, 2015, v. 31, n. 22, p. 3577, doi. 10.1093/bioinformatics/btv457
- By:
- Publication type:
- Article
GeneTalk: an expert exchange platform for assessing rare sequence variants in personal genomes.
- Published in:
- Bioinformatics, 2012, v. 28, n. 19, p. 2515, doi. 10.1093/bioinformatics/bts462
- By:
- Publication type:
- Article