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Targeted Sequencing in Chromosome 17q Linkage Region Identifies Familial Glioma Candidates in the Gliogene Consortium.
- Published in:
- Scientific Reports, 2015, p. 8278, doi. 10.1038/srep08278
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- Publication type:
- Article
Exome sequencing in mostly consanguineous Arab families with neurologic disease provides a high potential molecular diagnosis rate.
- Published in:
- BMC Medical Genomics, 2016, v. 9, p. 1, doi. 10.1186/s12920-016-0208-3
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- Publication type:
- Article
Exome sequencing in children with clinically suspected maturity‐onset diabetes of the young.
- Published in:
- Pediatric Diabetes, 2021, v. 22, n. 7, p. 960, doi. 10.1111/pedi.13257
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- Publication type:
- Article
Exome sequencing identification of a GJB1 missense mutation in a kindred with X-linked spinocerebellar ataxia (SCA-X1).
- Published in:
- Human Molecular Genetics, 2013, v. 22, n. 21, p. 4329, doi. 10.1093/hmg/ddt282
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- Publication type:
- Article
HMZDupFinder: a robust computational approach for detecting intragenic homozygous duplications from exome sequencing data.
- Published in:
- Nucleic Acids Research, 2024, v. 52, n. 4, p. e18, doi. 10.1093/nar/gkad1223
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- Publication type:
- Article
Sheep genome functional annotation reveals proximal regulatory elements contributed to the evolution of modern breeds.
- Published in:
- Nature Communications, 2018, v. 9, n. 1, p. 1, doi. 10.1038/s41467-017-02809-1
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- Publication type:
- Article
Interchromosomal template-switching as a novel molecular mechanism for imprinting perturbations associated with Temple syndrome.
- Published in:
- Genome Medicine, 2019, v. 11, n. 1, p. N.PAG, doi. 10.1186/s13073-019-0633-y
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- Publication type:
- Article
Whole-exome sequencing links TMCO1 defect syndrome with cerebro-facio-thoracic dysplasia.
- Published in:
- European Journal of Human Genetics, 2014, v. 22, n. 9, p. 1145, doi. 10.1038/ejhg.2013.291
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- Publication type:
- Article
Biallelic in-frame deletion in TRAPPC4 in a family with developmental delay and cerebellar atrophy.
- Published in:
- 2020
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- Publication type:
- letter
Deficiencies in vesicular transport mediated by TRAPPC4 are associated with severe syndromic intellectual disability.
- Published in:
- Brain: A Journal of Neurology, 2020, v. 143, n. 1, p. 112, doi. 10.1093/brain/awz374
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- Publication type:
- Article
Deficiencies in vesicular transport mediated by TRAPPC4 are associated with severe syndromic intellectual disability.
- Published in:
- 2019
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- Publication type:
- journal article
1550-P: Whole-Exome Sequencing in Children with Suspected Maturity-Onset Diabetes of the Young (MODY).
- Published in:
- Diabetes, 2020, v. 69, p. N.PAG, doi. 10.2337/db20-1550-P
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- Publication type:
- Article
Deep clinicopathological phenotyping identifies a previously unrecognized pathogenic EMD splice variant.
- Published in:
- Annals of Clinical & Translational Neurology, 2021, v. 8, n. 10, p. 2052, doi. 10.1002/acn3.51454
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- Publication type:
- Article
Biallelic GRM7 variants cause epilepsy, microcephaly, and cerebral atrophy.
- Published in:
- Annals of Clinical & Translational Neurology, 2020, v. 7, n. 5, p. 610, doi. 10.1002/acn3.51003
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- Publication type:
- Article
Biallelic CACNA2D2 variants in epileptic encephalopathy and cerebellar atrophy.
- Published in:
- Annals of Clinical & Translational Neurology, 2019, v. 6, n. 8, p. 1395, doi. 10.1002/acn3.50824
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- Publication type:
- Article
NODAL variants are associated with a continuum of laterality defects from simple D-transposition of the great arteries to heterotaxy.
- Published in:
- Genome Medicine, 2024, v. 16, n. 1, p. 1, doi. 10.1186/s13073-024-01312-9
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- Publication type:
- Article
The multiple de novo copy number variant (MdnCNV) phenomenon presents with peri-zygotic DNA mutational signatures and multilocus pathogenic variation.
- Published in:
- Genome Medicine, 2022, v. 14, n. 1, p. 1, doi. 10.1186/s13073-022-01123-w
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- Publication type:
- Article
COPA mutations impair ER-Golgi transport and cause hereditary autoimmune-mediated lung disease and arthritis.
- Published in:
- Nature Genetics, 2015, v. 47, n. 6, p. 654, doi. 10.1038/ng.3279
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- Publication type:
- Article
Germline mutations in shelterin complex genes are associated with familial glioma.
- Published in:
- 2015
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- Publication type:
- journal article
Germline Mutations in Shelterin Complex Genes Are Associated With Familial Glioma.
- Published in:
- JNCI: Journal of the National Cancer Institute, 2014, v. 107, n. 1, p. 1, doi. 10.1093/jnci/dju384
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- Publication type:
- Article
Novel LSS variants in alopecia and intellectual disability syndrome: New case report and clinical spectrum of LSS‐related rare disease traits.
- Published in:
- Clinical Genetics, 2023, v. 104, n. 3, p. 344, doi. 10.1111/cge.14348
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- Publication type:
- Article
Heterozygous CTNNB1 and TBX4 variants in a patient with abnormal lung growth, pulmonary hypertension, microcephaly, and spasticity.
- Published in:
- Clinical Genetics, 2019, v. 96, n. 4, p. 366, doi. 10.1111/cge.13605
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- Publication type:
- Article
IFIH1 loss-of-function variants contribute to very early-onset inflammatory bowel disease.
- Published in:
- Human Genetics, 2021, v. 140, n. 9, p. 1299, doi. 10.1007/s00439-021-02300-4
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- Publication type:
- Article
Exome sequencing reveals predominantly de novo variants in disorders with intellectual disability (ID) in the founder population of Finland.
- Published in:
- Human Genetics, 2021, v. 140, n. 7, p. 1011, doi. 10.1007/s00439-021-02268-1
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- Publication type:
- Article
Identification of likely pathogenic and known variants in TSPEAR, LAMB3, BCOR, and WNT10A in four Turkish families with tooth agenesis.
- Published in:
- Human Genetics, 2018, v. 137, n. 9, p. 689, doi. 10.1007/s00439-018-1907-y
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- Publication type:
- Article
Expanding the phenotypic spectrum of ARID1B-mediated disorders and identification of altered cell-cycle dynamics due to ARID1B haploinsufficiency.
- Published in:
- Orphanet Journal of Rare Diseases, 2014, v. 9, n. 1, p. 43, doi. 10.1186/1750-1172-9-43
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- Publication type:
- Article
Expanding the phenotypic spectrum of ARID1B-mediated disorders and identification of altered cell-cycle dynamics due to ARID1B haploinsufficiency.
- Published in:
- 2014
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- Publication type:
- journal article
Homozygous loss-of-function mutations in SOHLH1 in patients with nonsyndromic hypergonadotropic hypogonadism.
- Published in:
- 2015
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- Publication type:
- journal article
Human NK cell deficiency as a result of biallelic mutations in MCM10.
- Published in:
- 2020
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- Publication type:
- journal article
Disease-associated CTNNBL1 mutation impairs somatic hypermutation by decreasing nuclear AID.
- Published in:
- 2020
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- Publication type:
- journal article
Biallelic mutations in IRF8 impair human NK cell maturation and function.
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- 2017
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- Publication type:
- journal article
Molecular etiology of arthrogryposis in multiple families of mostly Turkish origin.
- Published in:
- 2016
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- Publication type:
- journal article
Biallelic missense variants in COG3 cause a congenital disorder of glycosylation with impairment of retrograde vesicular trafficking.
- Published in:
- Journal of Inherited Metabolic Disease, 2023, v. 46, n. 6, p. 1195, doi. 10.1002/jimd.12679
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- Publication type:
- Article
MIPEP recessive variants cause a syndrome of left ventricular non-compaction, hypotonia, and infantile death.
- Published in:
- Genome Medicine, 2016, v. 8, p. 1, doi. 10.1186/s13073-016-0360-6
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- Publication type:
- Article
Identification of a RAI1-associated disease network through integration of exome sequencing, transcriptomics, and 3D genomics.
- Published in:
- Genome Medicine, 2016, v. 8, p. 1, doi. 10.1186/s13073-016-0359-z
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- Publication type:
- Article
POGZ truncating alleles cause syndromic intellectual disability.
- Published in:
- Genome Medicine, 2016, v. 8, p. 1, doi. 10.1186/s13073-015-0253-0
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- Publication type:
- Article
Secondary findings and carrier test frequencies in a large multiethnic sample.
- Published in:
- Genome Medicine, 2015, v. 7, n. 1, p. 1, doi. 10.1186/s13073-015-0171-1
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- Publication type:
- Article
Variant‐level matching for diagnosis and discovery: Challenges and opportunities.
- Published in:
- Human Mutation, 2022, v. 43, n. 6, p. 782, doi. 10.1002/humu.24359
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- Publication type:
- Article
Phenotypic expansion in KIF1A‐related dominant disorders: A description of novel variants and review of published cases.
- Published in:
- Human Mutation, 2020, v. 41, n. 12, p. 2094, doi. 10.1002/humu.24118
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- Publication type:
- Article
Recurrent arginine substitutions in the ACTG2 gene are the primary driver of disease burden and severity in visceral myopathy.
- Published in:
- Human Mutation, 2020, v. 41, n. 3, p. 641, doi. 10.1002/humu.23960
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- Publication type:
- Article
A diagnostic ceiling for exome sequencing in cerebellar ataxia and related neurological disorders.
- Published in:
- Human Mutation, 2020, v. 41, n. 2, p. 487, doi. 10.1002/humu.23946
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- Publication type:
- Article
Multiallelic Positions in the Human Genome: Challenges for Genetic Analyses.
- Published in:
- Human Mutation, 2016, v. 37, n. 3, p. 231, doi. 10.1002/humu.22944
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- Publication type:
- Article
The role of FREM2 and FRAS1 in the development of congenital diaphragmatic hernia.
- Published in:
- Human Molecular Genetics, 2018, v. 27, n. 12, p. 2064, doi. 10.1093/hmg/ddy110
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- Publication type:
- Article
Mutations in the mitochondrial ribosomal protein MRPS22 lead to primary ovarian insufficiency.
- Published in:
- Human Molecular Genetics, 2018, v. 27, n. 11, p. 1913, doi. 10.1093/hmg/ddy098
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- Publication type:
- Article
A biallelic frameshift indel in PPP1R35 as a cause of primary microcephaly.
- Published in:
- American Journal of Medical Genetics. Part A, 2023, v. 191, n. 3, p. 794, doi. 10.1002/ajmg.a.63080
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- Publication type:
- Article
Novel RETREG1 (FAM134B) founder allele is linked to HSAN2B and renal disease in a Turkish family.
- Published in:
- American Journal of Medical Genetics. Part A, 2022, v. 188, n. 7, p. 2153, doi. 10.1002/ajmg.a.62727
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- Publication type:
- Article
Quantitative dissection of multilocus pathogenic variation in an Egyptian infant with severe neurodevelopmental disorder resulting from multiple molecular diagnoses.
- Published in:
- American Journal of Medical Genetics. Part A, 2022, v. 188, n. 3, p. 735, doi. 10.1002/ajmg.a.62565
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- Publication type:
- Article
Expanding the phenotypic and allelic spectrum of SMG8: Clinical observations reveal overlap with SMG9‐associated disease trait.
- Published in:
- American Journal of Medical Genetics. Part A, 2022, v. 188, n. 2, p. 648, doi. 10.1002/ajmg.a.62561
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- Publication type:
- Article
Novel pathogenic genomic variants leading to autosomal dominant and recessive Robinow syndrome.
- Published in:
- 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
Risk of sudden cardiac death in EXOSC5‐related disease.
- Published in:
- American Journal of Medical Genetics. Part A, 2021, v. 185, n. 8, p. 2532, doi. 10.1002/ajmg.a.62352
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- Publication type:
- Article