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Novel PNKP mutations associated with reduced DNA single‐strand break repair and severe microcephaly, seizures, and developmental delay.
- Published in:
- Molecular Genetics & Genomic Medicine, 2024, v. 12, n. 1, p. 1, doi. 10.1002/mgg3.2295
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- Article
From Epistemic Norms to Logical Rules: Epistemic Models for Logical Expressivists.
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- Journal of Philosophical Logic, 2023, v. 52, n. 6, p. 1517, doi. 10.1007/s10992-023-09712-9
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- Article
Mutations in human DNA methyltransferase DNMT1 induce specific genome-wide epigenomic and transcriptomic changes in neurodevelopment.
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- Human Molecular Genetics, 2023, v. 32, n. 21, p. 3105, doi. 10.1093/hmg/ddad123
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- Article
Heredity of pregnancy‐related pelvic girdle pain in Sweden.
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- Acta Obstetricia et Gynecologica Scandinavica, 2023, v. 102, n. 10, p. 1250, doi. 10.1111/aogs.14646
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- Article
Early-onset hereditary isolated non-neurogenic orthostatic hypotension in a Swedish family.
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- Clinical Autonomic Research, 2023, v. 33, n. 4, p. 421, doi. 10.1007/s10286-023-00963-9
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- Article
Genetic Investigation of Consanguineous Pakistani Families Segregating Rare Spinocerebellar Disorders.
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- Genes, 2023, v. 14, n. 7, p. 1404, doi. 10.3390/genes14071404
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- Article
ZEB2 haploinsufficient Mowat-Wilson syndrome induced pluripotent stem cells show disrupted GABAergic transcriptional regulation and function.
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- Frontiers in Molecular Neuroscience, 2022, v. 15, p. 01, doi. 10.3389/fnmol.2022.988993
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- Article
Inflammation and Interferon Signatures in Peripheral B-Lymphocytes and Sera of Individuals With Fibromyalgia.
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- Frontiers in Immunology, 2022, v. 13, p. 1, doi. 10.3389/fimmu.2022.874490
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- Article
GATA-1 Defects in Diamond–Blackfan Anemia: Phenotypic Characterization Points to a Specific Subset of Disease.
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- Genes, 2022, v. 13, n. 3, p. 447, doi. 10.3390/genes13030447
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- Article
Partial Monosomy 21 Mirrors Gene Expression of Trisomy 21 in a Patient-Derived Neuroepithelial Stem Cell Model.
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- Frontiers in Genetics, 2022, v. 12, p. 1, doi. 10.3389/fgene.2021.803683
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- Article
A fixed-point problem for theories of meaning.
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- Synthese, 2022, v. 200, n. 1, p. 1, doi. 10.1007/s11229-022-03559-4
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- Article
A combined approach for single-cell mRNA and intracellular protein expression analysis.
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- Communications Biology, 2021, v. 4, n. 1, p. 1, doi. 10.1038/s42003-021-02142-w
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- Article
A BBS1 SVA F retrotransposon insertion is a frequent cause of Bardet‐Biedl syndrome.
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- Clinical Genetics, 2021, v. 99, n. 2, p. 318, doi. 10.1111/cge.13878
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- Article
Aberrant splicing due to a novel RPS7 variant causes Diamond-Blackfan Anemia associated with spontaneous remission and meningocele.
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- International Journal of Hematology, 2020, v. 112, n. 6, p. 894, doi. 10.1007/s12185-020-02950-6
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- Article
Aniridia with PAX6 mutations and narcolepsy.
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- Journal of Sleep Research, 2020, v. 29, n. 6, p. 1, doi. 10.1111/jsr.12982
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- Article
Whole genome sequencing of familial isolated oesophagus atresia uncover shared structural variants.
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- BMC Medical Genomics, 2020, v. 13, n. 1, p. 1, doi. 10.1186/s12920-020-00737-6
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- Article
DNA methylation changes in Down syndrome derived neural iPSCs uncover co-dysregulation of ZNF and HOX3 families of transcription factors.
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- Clinical Epigenetics, 2020, v. 12, n. 1, p. 1, doi. 10.1186/s13148-019-0803-1
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- Article
Transcriptome and Proteome Profiling of Neural Induced Pluripotent Stem Cells from Individuals with Down Syndrome Disclose Dynamic Dysregulations of Key Pathways and Cellular Functions.
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- Molecular Neurobiology, 2019, v. 56, n. 10, p. 7113, doi. 10.1007/s12035-019-1585-3
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- Article
Ataxia in Patients With Bi-Allelic NFASC Mutations and Absence of Full-Length NF186.
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- Frontiers in Genetics, 2019, p. 1, doi. 10.3389/fgene.2019.00896
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- Publication type:
- Article
Primary microcephaly, primordial dwarfism, and brachydactyly in adult cases with biallelic skipping of RTTN exon 42.
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- Human Mutation, 2019, v. 40, n. 7, p. 899, doi. 10.1002/humu.23755
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- Article
Detailed analysis of HTT repeat elements in human blood using targeted amplification‐free long‐read sequencing.
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- Human Mutation, 2018, v. 39, n. 9, p. 1262, doi. 10.1002/humu.23580
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- Article
Homozygous GRID2 missense mutation predicts a shift in the D-serine binding domain of GluD2 in a case with generalized brain atrophy and unusual clinical features.
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- BMC Medical Genetics, 2017, v. 18, p. 1, doi. 10.1186/s12881-017-0504-6
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- Article
Altered paracellular cation permeability due to a rare CLDN10B variant causes anhidrosis and kidney damage.
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- PLoS Genetics, 2017, v. 13, n. 7, p. 1, doi. 10.1371/journal.pgen.1006897
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- Article
Abnormal primary and permanent dentitions with ectodermal symptoms predict WNT10A deficiency.
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- BMC Medical Genetics, 2016, v. 17, p. 1, doi. 10.1186/s12881-016-0349-4
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- Article
ACTG2 variants impair actin polymerization in sporadic Megacystis Microcolon Intestinal Hypoperistalsis Syndrome.
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- Human Molecular Genetics, 2016, v. 25, n. 3, p. 571, doi. 10.1093/hmg/ddv497
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- Article
Phenotypic expansion of visceral myopathy associated with ACTG2 tandem base substitution.
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- European Journal of Human Genetics, 2015, v. 23, n. 12, p. 1679, doi. 10.1038/ejhg.2015.49
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- Article
L MNB1-related autosomal-dominant leukodystrophy: Clinical and radiological course.
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- Annals of Neurology, 2015, v. 78, n. 3, p. 412, doi. 10.1002/ana.24452
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- Article
LMNB1-related autosomal-dominant leukodystrophy: Clinical and radiological course.
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- 2015
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- Publication type:
- journal article
Medical Genetics in Paediatric Practice, Committee on Genetics.
- Published in:
- 2015
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- Publication type:
- Book Review
A novel AP4M1 mutation in autosomal recessive cerebral palsy syndrome and clinical expansion of AP-4 deficiency.
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- BMC Medical Genetics, 2014, v. 15, n. 1, p. 69, doi. 10.1186/s12881-014-0133-2
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- Article
Abolished InsP<sub>3</sub> R2 function inhibits sweat secretion in both humans and mice.
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- Journal of Clinical Investigation, 2014, v. 124, n. 11, p. 4773, doi. 10.1172/JCI70720
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- Article
Abolished InsP3R2 function inhibits sweat secretion in both humans and mice.
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- 2014
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- Publication type:
- journal article
Evidence for autosomal recessive inheritance in SPG3A caused by homozygosity for a novel ATL1 missense mutation.
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- European Journal of Human Genetics, 2014, v. 22, n. 10, p. 1180, doi. 10.1038/ejhg.2014.5
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- Article
Recurrent GATA1 mutations in Diamond-Blackfan anaemia.
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- British Journal of Haematology, 2014, v. 166, n. 6, p. 949, doi. 10.1111/bjh.12919
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- Article
Disheveled regulates precoupling of heterotrimeric G proteins to Frizzled 6.
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- FASEB Journal, 2014, v. 28, n. 5, p. 2293, doi. 10.1096/fj.13-246363
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- Article
Recurrent GATA1 mutations in Diamond-Blackfan anaemia.
- Published in:
- British Journal of Haematology, 2014, v. 165, n. 1, p. 949, doi. 10.1111/bjh.12919
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- Publication type:
- Article
Autosomal Recessive Transmission of a Rare <i>KRT74</i> Variant Causes Hair and Nail Ectodermal Dysplasia: Allelism with Dominant Woolly Hair/Hypotrichosis.
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- PLoS ONE, 2014, v. 9, n. 4, p. 1, doi. 10.1371/journal.pone.0093607
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- Article
WNT 10A mutations account for ¼ of population-based isolated oligodontia and show phenotypic correlations.
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- American Journal of Medical Genetics. Part A, 2014, v. 164A, n. 2, p. 353, doi. 10.1002/ajmg.a.36243
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- Article
Clinical utility gene card for: Diamond - Blackfan Anemia - update 2013.
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- European Journal of Human Genetics, 2013, v. 21, n. 10, p. 1, doi. 10.1038/ejhg.2013.34
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- Article
Frizzled6 Deficiency Disrupts the Differentiation Process of Nail Development.
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- Journal of Investigative Dermatology, 2013, v. 133, n. 8, p. 1990, doi. 10.1038/jid.2013.84
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- Publication type:
- Article
Welander Distal Myopathy Caused by an Ancient Founder Mutation in TIA1 Associated with Perturbed Splicing.
- Published in:
- Human Mutation, 2013, v. 34, n. 4, p. 572, doi. 10.1002/humu.22282
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- Publication type:
- Article
Ichthyin/NIPAL4 localizes to keratins and desmosomes in epidermis and Ichthyin mutations affect epidermal lipid metabolism.
- Published in:
- Archives of Dermatological Research, 2012, v. 304, n. 5, p. 377, doi. 10.1007/s00403-012-1207-7
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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.
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- 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
Novel missense mutation in the RSPO4 gene in congenital hyponychia and evidence for a polymorphic initiation codon (p.M1I).
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- BMC Medical Genetics, 2012, v. 13, n. 1, p. 120, doi. 10.1186/1471-2350-13-120
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- Article
Genome-wide sequencing for the identification of rearrangements associated with Tourette syndrome and obsessive-compulsive disorder.
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- BMC Medical Genetics, 2012, v. 13, n. 1, p. 123, doi. 10.1186/1471-2350-13-123
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- Publication type:
- Article
siRNA Silencing of Proteasome Maturation Protein (POMP) Activates the Unfolded Protein Response and Constitutes a Model for KLICK Genodermatosis.
- Published in:
- PLoS ONE, 2012, v. 7, n. 1, p. 1, doi. 10.1371/journal.pone.0029471
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- Article
Isolated oligodontia associated with mutations in EDARADD, AXIN2, MSX1, and PAX9 genes.
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- American Journal of Medical Genetics. Part A, 2011, v. 155A, n. 7, p. 1616, doi. 10.1002/ajmg.a.34045
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- Publication type:
- Article
Clinical utility gene card for: Diamond Blackfan anemia.
- Published in:
- European Journal of Human Genetics, 2011, v. 19, n. 5, p. 1, doi. 10.1038/ejhg.2010.247
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- Article
Report of a recurrent mutation in ARS (component B) gene with severe Mal de Meleda in a large consanguineous Pakistani family.
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- Pakistan Journal of Medical Sciences, 2011, v. 27, n. 3, p. 686
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- Publication type:
- Article
59'UTR Variants of Ribosomal Protein S19 Transcript Determine Translational Efficiency: Implications for Diamond-Blackfan Anemia and Tissue Variability.
- Published in:
- PLoS ONE, 2011, v. 6, n. 3, p. 1, doi. 10.1371/journal.pone.0017672
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- Article