Found: 56
Select item for more details and to access through your institution.
‘Sifting the significance from the data’ - the impact of high-throughput genomic technologies on human genetics and health care.
- Published in:
- Human Genomics, 2012, v. 6, n. 1, p. 1, doi. 10.1186/1479-7364-6-11
- By:
- Publication type:
- Article
Irritability in young people with copy number variants associated with neurodevelopmental disorders (ND-CNVs).
- Published in:
- Translational Psychiatry, 2024, v. 14, n. 1, p. 1, doi. 10.1038/s41398-024-02975-z
- By:
- Publication type:
- Article
Structural analysis of pathogenic missense mutations in GABRA2 and identification of a novel de novo variant in the desensitization gate.
- Published in:
- Molecular Genetics & Genomic Medicine, 2020, v. 8, n. 7, p. 1, doi. 10.1002/mgg3.1106
- By:
- Publication type:
- Article
The psychiatric phenotypes of 1q21 distal deletion and duplication.
- Published in:
- Translational Psychiatry, 2021, v. 11, n. 1, p. 1, doi. 10.1038/s41398-021-01226-9
- By:
- Publication type:
- Article
The psychiatric phenotypes of 1q21 distal deletion and duplication.
- Published in:
- Translational Psychiatry, 2021, v. 11, n. 1, p. 1, doi. 10.1038/s41398-021-01226-9
- By:
- Publication type:
- Article
Identifying the neurodevelopmental and psychiatric signatures of genomic disorders associated with intellectual disability: a machine learning approach.
- Published in:
- Molecular Autism, 2023, v. 14, n. 1, p. 1, doi. 10.1186/s13229-023-00549-2
- By:
- Publication type:
- Article
Novel phosphopantothenoylcysteine synthetase (PPCS) mutations with prominent neuromuscular features: Expanding the phenotypical spectrum of PPCS‐related disorders.
- Published in:
- American Journal of Medical Genetics. Part A, 2022, v. 188, n. 9, p. 2783, doi. 10.1002/ajmg.a.62848
- By:
- Publication type:
- Article
Delineating the expanding phenotype associated with SCAPER gene mutation.
- Published in:
- American Journal of Medical Genetics. Part A, 2019, v. 179, n. 8, p. 1665, doi. 10.1002/ajmg.a.61202
- By:
- Publication type:
- Article
De novo DDX3X missense variants in males appear viable and contribute to syndromic intellectual disability.
- Published in:
- American Journal of Medical Genetics. Part A, 2019, v. 179, n. 4, p. 570, doi. 10.1002/ajmg.a.61061
- By:
- Publication type:
- Article
Mutations in the guanine nucleotide exchange factor gene IQSEC2 cause nonsyndromic intellectual disability.
- Published in:
- Nature Genetics, 2010, v. 42, n. 6, p. 486, doi. 10.1038/ng.588
- By:
- Publication type:
- Article
Mutations in UPF3B, a member of the nonsense-mediated mRNA decay complex, cause syndromic and nonsyndromic mental retardation.
- Published in:
- Nature Genetics, 2007, v. 39, n. 9, p. 1127, doi. 10.1038/ng2100
- By:
- Publication type:
- Article
Sleep disturbance as a transdiagnostic marker of psychiatric risk in children with neurodevelopmental risk genetic conditions.
- Published in:
- Translational Psychiatry, 2023, v. 13, n. 1, p. 1, doi. 10.1038/s41398-022-02296-z
- By:
- Publication type:
- Article
Maternal Isodisomy for Chromosome 9 Causing Homozygosity for a Novel FOXE1 Mutation in Syndromic Congenital Hypothyroidism.
- Published in:
- Journal of Clinical Endocrinology & Metabolism, 2010, v. 95, n. 8, p. 4031, doi. 10.1210/jc.2010-0275
- By:
- Publication type:
- Article
H Kehrer-sawatzki and DN Cooper (eds): Copy number variation and disease.
- Published in:
- 2010
- By:
- Publication type:
- Book Review
A family perspective of the value of a diagnosis for intellectual disability: experiences from a genetic research study.
- Published in:
- British Journal of Learning Disabilities, 2011, v. 39, n. 1, p. 46, doi. 10.1111/j.1468-3156.2010.00615.x
- By:
- Publication type:
- Article
Managing clinically significant findings in research: the UK10K example.
- Published in:
- European Journal of Human Genetics, 2014, v. 22, n. 9, p. 1100, doi. 10.1038/ejhg.2013.290
- By:
- Publication type:
- Article
Identification and characterization of two novel JARID1C mutations: suggestion of an emerging genotype-phenotype correlation.
- Published in:
- European Journal of Human Genetics, 2012, v. 20, n. 9, p. 1010, doi. 10.1038/ejhg.2012.114
- By:
- Publication type:
- Article
Deletion of MAOA and MAOB in a male patient causes severe developmental delay, intermittent hypotonia and stereotypical hand movements.
- Published in:
- European Journal of Human Genetics, 2010, v. 18, n. 10, p. 1095, doi. 10.1038/ejhg.2010.41
- By:
- Publication type:
- Article
CASK mutations are frequent in males and cause X-linked nystagmus and variable XLMR phenotypes.
- Published in:
- European Journal of Human Genetics, 2010, v. 18, n. 5, p. 544, doi. 10.1038/ejhg.2009.220
- By:
- Publication type:
- Article
Corrigendum to: CASK mutations are frequent in males and cause X-linked nystagmus and variable XLMR phenotypes.
- Published in:
- 2010
- By:
- Publication type:
- Correction Notice
Identification and characterization of two novel JARID1C mutations: suggestion of an emerging genotype–phenotype correlation.
- Published in:
- European Journal of Human Genetics, 2010, v. 18, n. 3, p. 330, doi. 10.1038/ejhg.2009.175
- By:
- Publication type:
- Article
Novel deletion variants of 9q13–q21.12 and classical euchromatic variants of 9q12/qh involve deletion, duplication and triplication of large tracts of segmentally duplicated pericentromeric euchromatin.
- Published in:
- European Journal of Human Genetics, 2007, v. 15, n. 1, p. 45, doi. 10.1038/sj.ejhg.5201720
- By:
- Publication type:
- Article
Identification and functional modelling of plausibly causative cis-regulatory variants in a highly-selected cohort with X-linked intellectual disability.
- Published in:
- PLoS ONE, 2021, v. 16, n. 8, p. 1, doi. 10.1371/journal.pone.0256181
- By:
- Publication type:
- Article
Detailed Clinical Phenotype and Molecular Genetic Findings in CLN3-Associated Isolated Retinal Degeneration.
- Published in:
- 2017
- By:
- Publication type:
- journal article
Clinical Characterization of CNGB1-Related Autosomal Recessive Retinitis Pigmentosa.
- Published in:
- 2017
- By:
- Publication type:
- journal article
Multicenter Consensus Approach to Evaluation of Neonatal Hypotonia in the Genomic Era: A Review.
- Published in:
- JAMA Neurology, 2022, v. 79, n. 4, p. 405, doi. 10.1001/jamaneurol.2022.0067
- By:
- Publication type:
- Article
Correction: Psychiatric disorders in children with 16p11.2 deletion and duplication.
- Published in:
- Translational Psychiatry, 2019, v. 9, n. 1, p. 1, doi. 10.1038/s41398-019-0441-6
- By:
- Publication type:
- Article
Psychiatric disorders in children with 16p11.2 deletion and duplication.
- Published in:
- Translational Psychiatry, 2019, v. 9, n. 1, p. 1, doi. 10.1038/s41398-018-0339-8
- By:
- Publication type:
- Article
Rare Genetic Variation in 135 Families With Family History Suggestive of X-Linked Intellectual Disability.
- Published in:
- Frontiers in Genetics, 2019, p. N.PAG, doi. 10.3389/fgene.2019.00578
- By:
- Publication type:
- Article
Whole genome sequencing reveals that genetic conditions are frequent in intensively ill children.
- Published in:
- 2019
- By:
- Publication type:
- journal article
Phenotypical characteristics of idiopathic infantile nystagmus with and without mutations in FRMD7.
- Published in:
- Brain: A Journal of Neurology, 2008, v. 131, n. 5, p. 1259, doi. 10.1093/brain/awn046
- By:
- Publication type:
- Article
Identification of a human synaptotagmin-1 mutation that perturbs synaptic vesicle cycling.
- Published in:
- Journal of Clinical Investigation, 2015, v. 125, n. 4, p. 1670, doi. 10.1172/JCI79765
- By:
- Publication type:
- Article
Disturbance of Notch-1 and Wnt signalling proteins in neuroglial balloon cells and abnormal large neurons in focal cortical dysplasia in human cortex.
- Published in:
- Acta Neuropathologica, 1999, v. 98, n. 5, p. 465, doi. 10.1007/s004010051111
- By:
- Publication type:
- Article
Long-range evolutionary constraints reveal cis-regulatory interactions on the human X chromosome.
- Published in:
- Nature Communications, 2015, v. 6, n. 4, p. 6904, doi. 10.1038/ncomms7904
- By:
- Publication type:
- Article
Novel KAT6B proximal familial variant expands genotypic and phenotypic spectrum.
- Published in:
- Clinical Genetics, 2019, v. 95, n. 2, p. 334, doi. 10.1111/cge.13456
- By:
- Publication type:
- Article
Dysregulations of sonic hedgehog signaling in MED12‐related X‐linked intellectual disability disorders.
- Published in:
- Molecular Genetics & Genomic Medicine, 2019, v. 7, n. 4, p. N.PAG, doi. 10.1002/mgg3.569
- By:
- Publication type:
- Article
Abundancy of polymorphic CGG repeats in the human genome suggest a broad involvement in neurological disease.
- Published in:
- Scientific Reports, 2021, v. 11, n. 1, p. 1, doi. 10.1038/s41598-021-82050-5
- By:
- Publication type:
- Article
Elucidating the molecular mechanisms associated with TARS2-related mitochondrial disease.
- Published in:
- Human Molecular Genetics, 2022, v. 31, n. 4, p. 523, doi. 10.1093/hmg/ddab257
- By:
- Publication type:
- Article
Global and Local Connectivity Differences Converge With Gene Expression in a Neurodevelopmental Disorder of Known Genetic Origin.
- Published in:
- Cerebral Cortex, 2017, v. 27, n. 7, p. 3806, doi. 10.1093/cercor/bhx027
- By:
- Publication type:
- Article
Clinical Genomics in Critically Ill Infants and Children.
- Published in:
- 2020
- By:
- Publication type:
- Editorial
Hyperphagia, Severe Obesity, Impaired Cognitive Function, and Hyperactivity Associated With Functional Loss of One Copy of the Brain-Derived Neurotrophic Factor (BDNF) Gene.
- Published in:
- Diabetes, 2006, v. 55, n. 12, p. 3366, doi. 10.2337/db06-0550
- By:
- Publication type:
- Article
DNAJC6 Mutations Disrupt Dopamine Homeostasis in Juvenile Parkinsonism-Dystonia.
- Published in:
- 2020
- By:
- Publication type:
- journal article
Biallelic mutations of TBC1D24 in exercise-induced paroxysmal dystonia.
- Published in:
- 2020
- By:
- Publication type:
- Case Study
Myoclonus-dystonia caused by GNB1 mutation responsive to deep brain stimulation.
- Published in:
- 2019
- By:
- Publication type:
- Case Study
MitoPhen database: a human phenotype ontology-based approach to identify mitochondrial DNA diseases.
- Published in:
- Nucleic Acids Research, 2021, v. 49, n. 17, p. 9686, doi. 10.1093/nar/gkab726
- By:
- Publication type:
- Article
Current controversies in prenatal diagnosis 2: should incidental findings arising from prenatal testing always be reported to patients?
- Published in:
- Prenatal Diagnosis, 2014, v. 34, n. 1, p. 12, doi. 10.1002/pd.4275
- By:
- Publication type:
- Article
Molecular prenatal diagnosis: the impact of modern technologies.
- Published in:
- 2010
- By:
- Publication type:
- Other
Unique noncoding variants upstream of PRDM13 are associated with a spectrum of developmental retinal dystrophies including progressive bifocal chorioretinal atrophy.
- Published in:
- Human Mutation, 2019, v. 40, n. 5, p. 578, doi. 10.1002/humu.23715
- By:
- Publication type:
- Article
Mutations in Cullin 4B result in a human syndrome associated with increased camptothecin-induced topoisomerase I-dependent DNA breaks.
- Published in:
- Human Molecular Genetics, 2010, v. 19, n. 7, p. 1324, doi. 10.1093/hmg/ddq008
- By:
- Publication type:
- Article
Lessons learnt from large-scale exon re-sequencing of the X chromosome.
- Published in:
- Human Molecular Genetics, 2009, v. 18, n. R1, p. R60, doi. 10.1093/hmg/ddp071
- By:
- Publication type:
- Article