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RTN2 deficiency results in an autosomal recessive distal motor neuropathy with lower limb spasticity.
- Published in:
- Brain: A Journal of Neurology, 2024, v. 147, n. 7, p. 2334, doi. 10.1093/brain/awae091
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- Publication type:
- Article
Biallelic NUDT2 variants defective in mRNA decapping cause a neurodevelopmental disease.
- Published in:
- Brain: A Journal of Neurology, 2024, v. 147, n. 4, p. 1197, doi. 10.1093/brain/awad434
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- Publication type:
- Article
Structural and non-coding variants increase the diagnostic yield of clinical whole genome sequencing for rare diseases.
- Published in:
- Genome Medicine, 2023, v. 15, n. 1, p. 1, doi. 10.1186/s13073-023-01240-0
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- Publication type:
- Article
Pure cerebellar ataxia due to bi‐allelic PRDX3 variants including recurring p.Asp202Asn.
- Published in:
- Annals of Clinical & Translational Neurology, 2023, v. 10, n. 10, p. 1910, doi. 10.1002/acn3.51874
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- Publication type:
- Article
Lunapark deficiency leads to an autosomal recessive neurodevelopmental phenotype with a degenerative course, epilepsy and distinct brain anomalies.
- Published in:
- Brain Communications, 2023, v. 5, n. 5, p. 1, doi. 10.1093/braincomms/fcad222
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- Publication type:
- Article
Genome sequencing identifies KMT2E‐disrupting cryptic structural variant in a female with O'Donnell‐Luria‐Rodan syndrome.
- Published in:
- Clinical Genetics, 2023, v. 104, n. 3, p. 390, doi. 10.1111/cge.14355
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- Publication type:
- Article
The prevalence and phenotypic range associated with biallelic PKDCC variants.
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- Clinical Genetics, 2023, v. 104, n. 1, p. 121, doi. 10.1111/cge.14324
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- Publication type:
- Article
A Palindrome-Like Structure on 16p13.3 Is Associated with the Formation of Complex Structural Variations and SRRM2 Haploinsufficiency.
- Published in:
- Human Mutation, 2023, p. 1, doi. 10.1155/2023/6633248
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- Publication type:
- Article
Bartter-Gitelman Spectrum: 50-Year Follow-up With Revision of Diagnosis After Whole-Genome Sequencing.
- Published in:
- Journal of the Endocrine Society, 2022, v. 6, n. 7, p. 1, doi. 10.1210/jendso/bvac079
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- Publication type:
- Article
Biallelic TMEM260 variants cause truncus arteriosus, with or without renal defects.
- Published in:
- Clinical Genetics, 2022, v. 101, n. 1, p. 127, doi. 10.1111/cge.14071
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- Publication type:
- Article
Short and long-read genome sequencing methodologies for somatic variant detection; genomic analysis of a patient with diffuse large B-cell lymphoma.
- Published in:
- Scientific Reports, 2021, v. 11, n. 1, p. 1, doi. 10.1038/s41598-021-85354-8
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- Publication type:
- Article
Bi-allelic MCM10 variants associated with immune dysfunction and cardiomyopathy cause telomere shortening.
- Published in:
- Nature Communications, 2021, v. 12, n. 1, p. 1, doi. 10.1038/s41467-021-21878-x
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- Publication type:
- Article
An ancestral 10-bp repeat expansion in VWA1 causes recessive hereditary motor neuropathy.
- Published in:
- 2021
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- Publication type:
- journal article
Multiple Endocrine Neoplasia Type 1 (MEN1) 5′UTR Deletion, in MEN1 Family, Decreases Menin Expression.
- Published in:
- Journal of Bone & Mineral Research, 2021, v. 36, n. 1, p. 100, doi. 10.1002/jbmr.4156
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- Publication type:
- Article
Whole genome sequence analysis identifies a PAX2 mutation to establish a correct diagnosis for a syndromic form of hyperuricemia.
- Published in:
- American Journal of Medical Genetics. Part A, 2020, v. 182, n. 11, p. 2521, doi. 10.1002/ajmg.a.61814
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- Publication type:
- Article
Author Correction: Nuclear-mitochondrial DNA segments resemble paternally inherited mitochondrial DNA in humans.
- Published in:
- 2020
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- Publication type:
- Correction Notice
The role of rare compound heterozygous events in autism spectrum disorder.
- Published in:
- Translational Psychiatry, 2020, v. 10, n. 1, p. 1, doi. 10.1038/s41398-020-00866-7
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- Publication type:
- Article
MichelaNglo: sculpting protein views on web pages without coding.
- Published in:
- Bioinformatics, 2020, v. 36, n. 10, p. 3268, doi. 10.1093/bioinformatics/btaa104
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- Publication type:
- Article
Nuclear-mitochondrial DNA segments resemble paternally inherited mitochondrial DNA in humans.
- Published in:
- Nature Communications, 2020, v. 11, n. 1, p. 1, doi. 10.1038/s41467-020-15336-3
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- Publication type:
- Article
Remission of Inflammatory Bowel Disease in Glucose-6-Phosphatase 3 Deficiency by Allogeneic Haematopoietic Stem Cell Transplantation.
- Published in:
- Journal of Crohn's & Colitis, 2020, v. 14, n. 1, p. 142, doi. 10.1093/ecco-jcc/jjz112
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- Publication type:
- Article
Defective tubulin detyrosination causes structural brain abnormalities with cognitive deficiency in humans and mice.
- Published in:
- Human Molecular Genetics, 2019, v. 28, n. 20, p. 3391, doi. 10.1093/hmg/ddz186
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- Publication type:
- Article
Frequent retrotransposition of endogenous genes in ERCC2-deficient cells derived from a patient with xeroderma pigmentosum.
- Published in:
- Stem Cell Research & Therapy, 2019, v. 10, n. 1, p. N.PAG, doi. 10.1186/s13287-019-1381-z
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- Publication type:
- Article
Implementation of a genomic medicine multi-disciplinary team approach for rare disease in the clinical setting: a prospective exome sequencing case series.
- Published in:
- Genome Medicine, 2019, v. 11, n. 1, p. N.PAG, doi. 10.1186/s13073-019-0651-9
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- Publication type:
- Article
Classical and Non-classical Presentations of Complement Factor I Deficiency: Two Contrasting Cases Diagnosed via Genetic and Genomic Methods.
- Published in:
- Frontiers in Immunology, 2019, p. N.PAG, doi. 10.3389/fimmu.2019.01150
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- Publication type:
- Article
Delineation of dominant and recessive forms of LZTR1‐associated Noonan syndrome.
- Published in:
- Clinical Genetics, 2019, v. 95, n. 6, p. 693, doi. 10.1111/cge.13533
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- Publication type:
- Article
Sequencing of human genomes with nanopore technology.
- Published in:
- Nature Communications, 2019, v. 10, n. 1, p. N.PAG, doi. 10.1038/s41467-019-09637-5
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- Publication type:
- Article
A homozygous variant disrupting the PIGH start-codon is associated with developmental delay, epilepsy, and microcephaly.
- Published in:
- Human Mutation, 2018, v. 39, n. 6, p. 822, doi. 10.1002/humu.23420
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- Publication type:
- Article
Activation of an exonic splice-donor site in exon 30 of CDK5 RAP2 in a patient with severe microcephaly and pigmentary abnormalities.
- Published in:
- Clinical Case Reports, 2016, v. 4, n. 10, p. 952, doi. 10.1002/ccr3.663
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- Publication type:
- Article
A de novo frameshift in HNRNPK causing a Kabuki-like syndrome with nodular heterotopia.
- Published in:
- Clinical Genetics, 2016, v. 90, n. 3, p. 258, doi. 10.1111/cge.12773
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- Publication type:
- Article
Identification of a G-Protein Subunit-α11 Gain-of-Function Mutation, Val340Met, in a Family With Autosomal Dominant Hypocalcemia Type 2 (ADH2).
- Published in:
- Journal of Bone & Mineral Research, 2016, v. 31, n. 6, p. 1207, doi. 10.1002/jbmr.2797
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- Publication type:
- Article
Mutations in PIGY: expanding the phenotype of inherited glycosylphosphatidylinositol deficiencies.
- Published in:
- Human Molecular Genetics, 2015, v. 24, n. 21, p. 6146, doi. 10.1093/hmg/ddv331
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- Publication type:
- Article
Reply to Pembrey et al: 'ZNF277 microdeletions, specific language impairment and the meiotic mismatch methylation (3M) hypothesis'.
- Published in:
- European Journal of Human Genetics, 2015, v. 23, n. 9, p. 1113, doi. 10.1038/ejhg.2014.275
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- Publication type:
- Article
Germline recessive mutations in PI4KA are associated with perisylvian polymicrogyria, cerebellar hypoplasia and arthrogryposis.
- Published in:
- Human Molecular Genetics, 2015, v. 24, n. 13, p. 3732, doi. 10.1093/hmg/ddv117
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- Publication type:
- Article
Homozygous microdeletion of exon 5 in ZNF277 in a girl with specific language impairment.
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- European Journal of Human Genetics, 2014, v. 22, n. 10, p. 1165, doi. 10.1038/ejhg.2014.4
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- Publication type:
- Article
Clinical whole-genome sequencing in severe early-onset epilepsy reveals new genes and improves molecular diagnosis.
- Published in:
- Human Molecular Genetics, 2014, v. 23, n. 12, p. 3200
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- Publication type:
- Article
A Deletion Involving CD 38 and BST 1 Results in a Fusion Transcript in a Patient With Autism and Asthma.
- Published in:
- Autism Research: Official Journal of the International Society for Autism Research, 2014, v. 7, n. 2, p. 254, doi. 10.1002/aur.1365
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- Publication type:
- Article
Periventricular heterotopia in 6q terminal deletion syndrome: role of the C6orf70 gene.
- Published in:
- Brain: A Journal of Neurology, 2013, v. 136, n. 11, p. 3378, doi. 10.1093/brain/awt249
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- Publication type:
- Article
CNVs leading to fusion transcripts in individuals with autism spectrum disorder.
- Published in:
- European Journal of Human Genetics, 2012, v. 20, n. 11, p. 1141, doi. 10.1038/ejhg.2012.73
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- Publication type:
- Article
A novel nonsense CDK5RAP2 mutation in a Somali child with primary microcephaly and sensorineural hearing loss.
- Published in:
- American Journal of Medical Genetics. Part A, 2012, v. 158A, n. 10, p. 2577, doi. 10.1002/ajmg.a.35558
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- Publication type:
- Article
Exome sequencing can detect pathogenic mosaic mutations present at low allele frequencies.
- Published in:
- Journal of Human Genetics, 2012, v. 57, n. 1, p. 70, doi. 10.1038/jhg.2011.128
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- Publication type:
- Article
FOXRED1, encoding an FAD-dependent oxidoreductase complex-I-specific molecular chaperone, is mutated in infantile-onset mitochondrial encephalopathy.
- Published in:
- Human Molecular Genetics, 2010, v. 19, n. 24, p. 4837, doi. 10.1093/hmg/ddq414
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- Publication type:
- Article
A genome-wide scan for common alleles affecting risk for autism.
- Published in:
- Human Molecular Genetics, 2010, v. 19, n. 20, p. 4072, doi. 10.1093/hmg/ddq307
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- Publication type:
- Article
High-density SNP association study and copy number variation analysis of the AUTS1 and AUTS5 loci implicate the IMMP2L–DOCK4 gene region in autism susceptibility.
- Published in:
- Molecular Psychiatry, 2010, v. 15, n. 9, p. 954, doi. 10.1038/mp.2009.34
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- Publication type:
- Article
Functional impact of global rare copy number variation in autism spectrum disorders.
- Published in:
- Nature, 2010, v. 466, n. 7304, p. 368, doi. 10.1038/nature09146
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- Publication type:
- Article
Polymorphisms in leucine-rich repeat genes are associated with autism spectrum disorder susceptibility in populations of European ancestry.
- Published in:
- Molecular Autism, 2010, v. 1, n. 1, p. 1, doi. 10.1186/2040-2392-1-7
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- Publication type:
- Article
Copy number variation and association analysis of SHANK3 as a candidate gene for autism in the IMGSAC collection.
- Published in:
- European Journal of Human Genetics, 2009, v. 17, n. 10, p. 1347, doi. 10.1038/ejhg.2009.47
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- Publication type:
- Article
A 15q13.3 microdeletion segregating with autism.
- Published in:
- European Journal of Human Genetics, 2009, v. 17, n. 5, p. 687, doi. 10.1038/ejhg.2008.228
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- Publication type:
- Article
Analysis of mutant DNA polymerase γ in patients with mitochondrial DNA depletion.
- Published in:
- Human Mutation, 2009, v. 30, n. 2, p. 248, doi. 10.1002/humu.20852
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- Publication type:
- Article
Dominant inheritance of premature ovarian failure associated with mutant mitochondrial DNA polymerase gamma.
- Published in:
- Human Reproduction, 2006, v. 21, n. 10, p. 2467
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- Publication type:
- Article
Dominant inheritance of premature ovarian failure associated with mutant mitochondrial DNA polymerase gamma.
- Published in:
- 2006
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- Publication type:
- journal article