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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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- Publication type:
- Article
Genome sequencing differentiates a paracentric inversion from a balanced insertion enabling more accurate preimplantation genetic testing.
- Published in:
- Acta Obstetricia et Gynecologica Scandinavica, 2024, v. 103, n. 8, p. 1564, doi. 10.1111/aogs.14898
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- Publication type:
- Article
Multi-Omic Investigations of a 17–19 Translocation Links MINK1 Disruption to Autism, Epilepsy and Osteoporosis.
- Published in:
- International Journal of Molecular Sciences, 2022, v. 23, n. 16, p. 9392, doi. 10.3390/ijms23169392
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- Publication type:
- Article
Zebrafish Models of Neurodevelopmental Disorders: Limitations and Benefits of Current Tools and Techniques.
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- International Journal of Molecular Sciences, 2019, v. 20, n. 6, p. 1296, doi. 10.3390/ijms20061296
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- Publication type:
- Article
Comprehensive structural variation genome map of individuals carrying complex chromosomal rearrangements.
- Published in:
- PLoS Genetics, 2019, v. 15, n. 2, p. 1, doi. 10.1371/journal.pgen.1007858
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- Publication type:
- Article
Hybrid sequencing resolves two germline ultra-complex chromosomal rearrangements consisting of 137 breakpoint junctions in a single carrier.
- Published in:
- Human Genetics, 2021, v. 140, n. 5, p. 775, doi. 10.1007/s00439-020-02242-3
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- Publication type:
- Article
Detection of germline mosaicism in fathers of children with intellectual disability syndromes caused by de novo variants.
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- Molecular Genetics & Genomic Medicine, 2022, v. 10, n. 4, p. 1, doi. 10.1002/mgg3.1880
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- Publication type:
- Article
Male reproductive health statement (XIIIth international symposium on Spermatology, may 9th–12th 2018, Stockholm, Sweden.
- Published in:
- 2018
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- Publication type:
- Letter
The cost-effectiveness of whole genome sequencing in neurodevelopmental disorders.
- Published in:
- Scientific Reports, 2023, v. 13, n. 1, p. 1, doi. 10.1038/s41598-023-33787-8
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- Publication type:
- Article
Rare deleterious mutations of HNRNP genes result in shared neurodevelopmental disorders.
- Published in:
- Genome Medicine, 2021, v. 13, n. 1, p. 1, doi. 10.1186/s13073-021-00870-6
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- Publication type:
- Article
Rare deleterious mutations of HNRNP genes result in shared neurodevelopmental disorders.
- Published in:
- Genome Medicine, 2021, v. 13, n. 1, p. 1, doi. 10.1186/s13073-021-00870-6
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- Publication type:
- Article
Transposable element insertions in 1000 Swedish individuals.
- Published in:
- PLoS ONE, 2023, v. 18, n. 7, p. 1, doi. 10.1371/journal.pone.0289346
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- Publication type:
- Article
Expanding the phenotype of Seckel syndrome associated with biallelic loss‐of‐function variants in CEP63.
- Published in:
- American Journal of Medical Genetics. Part A, 2023, v. 191, n. 7, p. 1929, doi. 10.1002/ajmg.a.63200
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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
Whole‐genome sequencing reveals complex chromosome rearrangement disrupting NIPBL in infant with Cornelia de Lange syndrome.
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- American Journal of Medical Genetics. Part A, 2020, v. 182, n. 5, p. 1143, doi. 10.1002/ajmg.a.61539
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- Publication type:
- Article
Further evidence for specific IFIH1 mutation as a cause of Singleton-Merten syndrome with phenotypic heterogeneity.
- Published in:
- American Journal of Medical Genetics. Part A, 2017, v. 173, n. 5, p. 1396, doi. 10.1002/ajmg.a.38214
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- Publication type:
- Article
Inherited mosaicism for the supernumerary marker chromosome in cat eye syndrome: Inter- and intra-individual variation and correlation to the phenotype.
- Published in:
- American Journal of Medical Genetics. Part A, 2012, v. 158A, n. 5, p. 1111, doi. 10.1002/ajmg.a.35311
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- Publication type:
- Article
Copy Number Variants Are Enriched in Individuals With Early-Onset Obesity and Highlight Novel Pathogenic Pathways.
- Published in:
- 2017
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- Publication type:
- journal article
Low Copy Number of the AMY1 Locus Is Associated with Early-Onset Female Obesity in Finland.
- Published in:
- PLoS ONE, 2015, v. 10, n. 7, p. 1, doi. 10.1371/journal.pone.0131883
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- Publication type:
- Article
Rare variants in dynein heavy chain genes in two individuals with situs inversus and developmental dyslexia: a case report.
- Published in:
- BMC Medical Genetics, 2020, v. 21, n. 1, p. 1, doi. 10.1186/s12881-020-01020-2
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- Publication type:
- Article
Discovery of Novel Sequences in 1,000 Swedish Genomes.
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- Molecular Biology & Evolution, 2020, v. 37, n. 1, p. 18, doi. 10.1093/molbev/msz176
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- Publication type:
- Article
Ataxia in Patients With Bi-Allelic NFASC Mutations and Absence of Full-Length NF186.
- Published in:
- Frontiers in Genetics, 2019, p. 1, doi. 10.3389/fgene.2019.00896
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- Publication type:
- Article
Truncating Variant in Myof Gene Is Associated With Limb-Girdle Type Muscular Dystrophy and Cardiomyopathy.
- Published in:
- Frontiers in Genetics, 2019, p. N.PAG, doi. 10.3389/fgene.2019.00608
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- Publication type:
- Article
Whole genome sequencing unveils genetic heterogeneity in optic nerve hypoplasia.
- Published in:
- PLoS ONE, 2020, v. 15, n. 2, p. 1, doi. 10.1371/journal.pone.0228622
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- Publication type:
- Article
Loqusdb: added value of an observations database of local genomic variation.
- Published in:
- BMC Bioinformatics, 2020, v. 21, n. 1, p. 1, doi. 10.1186/s12859-020-03609-z
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- Publication type:
- Article
Precision medicine in rare diseases: What is next?
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- Journal of Internal Medicine, 2023, v. 294, n. 4, p. 397, doi. 10.1111/joim.13655
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- Publication type:
- Article
A polygenic risk score to help discriminate primary adrenal insufficiency of different etiologies.
- Published in:
- Journal of Internal Medicine, 2023, v. 294, n. 1, p. 96, doi. 10.1111/joim.13649
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- Publication type:
- Article
Expanding the phenotype of the recurrent truncating eIF2γ pathogenic variant p.(Ile465Serfs*4) identified in two brothers with MEHMO syndrome.
- Published in:
- 2022
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- Publication type:
- Case Study
Meckel syndrome: Clinical and mutation profile in six fetuses.
- Published in:
- Clinical Genetics, 2019, v. 96, n. 6, p. 560, doi. 10.1111/cge.13623
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- Publication type:
- Article
Early activating somatic PIK3CA mutations promote ectopic muscle development and upper limb overgrowth.
- Published in:
- Clinical Genetics, 2019, v. 96, n. 2, p. 118, doi. 10.1111/cge.13543
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- Publication type:
- Article
Loss of ctnnd2b affects neuronal differentiation and behavior in zebrafish.
- Published in:
- Frontiers in Neuroscience, 2023, p. 1, doi. 10.3389/fnins.2023.1205653
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- Publication type:
- Article
Unraveling mucolipidosis type III gamma through whole genome sequencing in late-onset retinitis pigmentosa: a case report.
- Published in:
- 2023
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- Publication type:
- Case Study
Further support linking the 22q11.2 microduplication to an increased risk of bladder exstrophy and highlighting LZTR1 as a candidate gene.
- Published in:
- Molecular Genetics & Genomic Medicine, 2019, v. 7, n. 6, p. N.PAG, doi. 10.1002/mgg3.666
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- Publication type:
- Article
Rare copy number variants contribute pathogenic alleles in patients with intestinal malrotation.
- Published in:
- Molecular Genetics & Genomic Medicine, 2019, v. 7, n. 3, p. N.PAG, doi. 10.1002/mgg3.549
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- Publication type:
- Article
Identification of three novel FGF16 mutations in X-linked recessive fusion of the fourth and fifth metacarpals and possible correlation with heart disease.
- Published in:
- Molecular Genetics & Genomic Medicine, 2014, v. 2, n. 5, p. 402, doi. 10.1002/mgg3.81
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- Publication type:
- Article
WNT3 involvement in human bladder exstrophy and cloaca development in zebrafish.
- Published in:
- Human Molecular Genetics, 2015, v. 24, n. 18, p. 5069, doi. 10.1093/hmg/ddv225
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- Publication type:
- Article
Rare Copy Number Variants in Array-Based Comparative Genomic Hybridization in Early-Onset Skeletal Fragility.
- Published in:
- Frontiers in Endocrinology, 2018, p. N.PAG, doi. 10.3389/fendo.2018.00380
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- Publication type:
- Article
A Missense Variant in PDK1 Associated with Severe Neurodevelopmental Delay and Epilepsy.
- Published in:
- Biomedicines, 2022, v. 10, n. 12, p. 3171, doi. 10.3390/biomedicines10123171
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- Publication type:
- Article
Targeted Exome Sequencing of Genes Involved in Rare CNVs in Early-Onset Severe Obesity.
- Published in:
- Frontiers in Genetics, 2022, v. 13, p. 1, doi. 10.3389/fgene.2022.839349
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- Publication type:
- Article
Partial Monosomy 21 Mirrors Gene Expression of Trisomy 21 in a Patient-Derived Neuroepithelial Stem Cell Model.
- Published in:
- Frontiers in Genetics, 2022, v. 12, p. 1, doi. 10.3389/fgene.2021.803683
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- Publication type:
- Article
Multi‐omics analysis reveals multiple mechanisms causing Prader–Willi like syndrome in a family with a X;15 translocation.
- Published in:
- Human Mutation, 2022, v. 43, n. 11, p. 1567, doi. 10.1002/humu.24440
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- Publication type:
- Article
PatientMatcher: A customizable Python‐based open‐source tool for matching undiagnosed rare disease patients via the Matchmaker Exchange network.
- Published in:
- Human Mutation, 2022, v. 43, n. 6, p. 708, doi. 10.1002/humu.24358
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- Publication type:
- Article
Cytogenetically visible inversions are formed by multiple molecular mechanisms.
- Published in:
- Human Mutation, 2020, v. 41, n. 11, p. 1979, doi. 10.1002/humu.24106
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- Publication type:
- Article
Alu‐Alu mediated intragenic duplications in IFT81 and MATN3 are associated with skeletal dysplasias.
- Published in:
- Human Mutation, 2018, v. 39, n. 10, p. 1456, doi. 10.1002/humu.23605
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- Publication type:
- Article
De novo mutations in FLNC leading to early‐onset restrictive cardiomyopathy and congenital myopathy.
- Published in:
- Human Mutation, 2018, v. 39, n. 9, p. 1161, doi. 10.1002/humu.23559
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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
Targeted copy number screening highlights an intragenic deletion of <italic>WDR63</italic> as the likely cause of human occipital encephalocele and abnormal CNS development in zebrafish.
- Published in:
- Human Mutation, 2018, v. 39, n. 4, p. 495, doi. 10.1002/humu.23388
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- Publication type:
- Article
Whole-Genome Sequencing of Cytogenetically Balanced Chromosome Translocations Identifies Potentially Pathological Gene Disruptions and Highlights the Importance of Microhomology in the Mechanism of Formation.
- Published in:
- Human Mutation, 2017, v. 38, n. 2, p. 180, doi. 10.1002/humu.23146
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- Publication type:
- Article
Building a precision medicine infrastructure at a national level: The Swedish experience.
- Published in:
- Cambridge Prisms: Precision Medicine, 2023, v. 1, p. 1, doi. 10.1017/pcm.2023.3
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- Publication type:
- Article
Case report: Extending the spectrumof clinical andmolecular ?ndings in FOXC1 haploinsufficiency syndrome.
- Published in:
- Frontiers in Genetics, 2023, p. 01, doi. 10.3389/fgene.2023.1174046
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- Publication type:
- Article