Found: 42
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Towards a safety net for management of 22q11.2 deletion syndrome: guidelines for our times.
- Published in:
- European Journal of Pediatrics, 2014, v. 173, n. 6, p. 757, doi. 10.1007/s00431-013-2240-z
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- Publication type:
- Article
Novel compound heterozygous STN1 variants are associated with Coats Plus syndrome.
- Published in:
- 2021
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- Publication type:
- Case Study
The Human Phenotype Ontology in 2017.
- Published in:
- Nucleic Acids Research, 2017, v. 45, n. D1, p. D865, doi. 10.1093/nar/gkw1039
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- Publication type:
- Article
DECIPHER: database for the interpretation of phenotype-linked plausibly pathogenic sequence and copy-number variation.
- Published in:
- Nucleic Acids Research, 2014, v. 42, n. D1, p. D993, doi. 10.1093/nar/gkt937
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- Publication type:
- Article
The Human Phenotype Ontology project: linking molecular biology and disease through phenotype data.
- Published in:
- Nucleic Acids Research, 2014, v. 42, n. D1, p. D966
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- Publication type:
- Article
A novel RASA1 mutation causing capillary malformation-arteriovenous malformation (CM-AVM) presenting during pregnancy.
- Published in:
- American Journal of Medical Genetics. Part A, 2013, v. 161A, n. 7, p. 1690, doi. 10.1002/ajmg.a.35935
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- Publication type:
- Article
Neonatal lethal Costello syndrome and unusual dinucleotide deletion/insertion mutations in HRAS predicting p.Gly12Val.
- Published in:
- American Journal of Medical Genetics. Part A, 2012, v. 158A, n. 5, p. 1102, doi. 10.1002/ajmg.a.35296
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- Publication type:
- Article
Hypomethylation of multiple imprinted loci in individuals with transient neonatal diabetes is associated with mutations in ZFP57.
- Published in:
- Nature Genetics, 2008, v. 40, n. 8, p. 949, doi. 10.1038/ng.187
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- Publication type:
- Article
Microdeletion encompassing MAPT at chromosome 17q21.3 is associated with developmental delay and learning disability.
- Published in:
- Nature Genetics, 2006, v. 38, n. 9, p. 1032, doi. 10.1038/ng1858
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- Publication type:
- Article
Constitutional aneuploidy and cancer predisposition caused by biallelic mutations in BUB1B.
- Published in:
- Nature Genetics, 2004, v. 36, n. 11, p. 1159, doi. 10.1038/ng1449
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- Publication type:
- Article
Mutations in the gene encoding filamin B disrupt vertebral segmentation, joint formation and skeletogenesis.
- Published in:
- Nature Genetics, 2004, v. 36, n. 4, p. 405, doi. 10.1038/ng1319
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- Publication type:
- Article
Chorion villus sampling and limb deficiency-cause or coincidence?
- Published in:
- Prenatal Diagnosis, 1997, v. 17, n. 13, p. 1313, doi. 10.1002/(SICI)1097-0223(199712)17:13<1313::AID-PD298>3.0.CO;2-6
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- Publication type:
- Article
The Deciphering Developmental Disorders (DDD) study.
- Published in:
- 2011
- By:
- Publication type:
- Other
Cell Proliferation Activities on Skin Fibroblasts from a Short Child with Absence of One Copy of the Type 1 Insulin-Like Growth Factor Receptor (IGF1R) Gene and a Tall Child with Three Copies of the IGF1R Gene.
- Published in:
- Journal of Clinical Endocrinology & Metabolism, 2003, v. 88, n. 12, p. 5981, doi. 10.1210/jc.2002-021080
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- Publication type:
- Article
Trappc9 deficiency causes parent-of-origin dependent microcephaly and obesity.
- Published in:
- PLoS Genetics, 2020, v. 16, n. 9, p. 1, doi. 10.1371/journal.pgen.1008916
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- Publication type:
- Article
Contribution of retrotransposition to developmental disorders.
- Published in:
- Nature Communications, 2019, v. 10, n. 1, p. N.PAG, doi. 10.1038/s41467-019-12520-y
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- Publication type:
- Article
Flexible and scalable diagnostic filtering of genomic variants using G2P with Ensembl VEP.
- Published in:
- Nature Communications, 2019, v. 10, n. 1, p. N.PAG, doi. 10.1038/s41467-019-10016-3
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- Publication type:
- Article
A novel microdeletion syndrome involving 5q14.3-q15: clinical and molecular cytogenetic characterization of three patients.
- Published in:
- European Journal of Human Genetics, 2009, v. 17, n. 12, p. 1592, doi. 10.1038/ejhg.2009.90
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- Publication type:
- Article
Guidelines for molecular karyotyping in constitutional genetic diagnosis.
- Published in:
- European Journal of Human Genetics, 2007, v. 15, n. 11, p. 1105, doi. 10.1038/sj.ejhg.5201896
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- Publication type:
- Article
Disruption of Netrin G1 by a balanced chromosome translocation in a girl with Rett syndrome.
- Published in:
- European Journal of Human Genetics, 2005, v. 13, n. 8, p. 921, doi. 10.1038/sj.ejhg.5201429
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- Publication type:
- Article
Enabling Global Clinical Collaborations on Identifiable Patient Data: The Minerva Initiative.
- Published in:
- Frontiers in Genetics, 2019, p. 1, doi. 10.3389/fgene.2019.00611
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- Publication type:
- Article
Recurrent posterior fossa group A (PFA) ependymoma in a young child with constitutional mismatch repair deficiency (CMMRD).
- Published in:
- Neuropathology & Applied Neurobiology, 2023, v. 49, n. 1, p. 1, doi. 10.1111/nan.12862
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- Publication type:
- Article
Genomics: the power, potential and pitfalls of the new technologies and how they are transforming healthcare.
- Published in:
- Clinical Medicine, 2019, v. 19, n. 4, p. 269, doi. 10.7861/clinmedicine.19-4-269
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- Publication type:
- Article
Whole genome sequencing reveals that genetic conditions are frequent in intensively ill children.
- Published in:
- 2019
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- Publication type:
- journal article
PSMC5 insufficiency and P320R mutation impair proteasome function.
- Published in:
- Human Molecular Genetics, 2024, v. 33, n. 17, p. 1506, doi. 10.1093/hmg/ddae085
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- Publication type:
- Article
Minimum information and guidelines for reporting a multiplexed assay of variant effect.
- Published in:
- Genome Biology, 2024, v. 25, n. 1, p. 1, doi. 10.1186/s13059-024-03223-9
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- Publication type:
- Article
Heterozygous KIDINS220/ARMS nonsense variants cause spastic paraplegia, intellectual disability, nystagmus, and obesity.
- Published in:
- Human Molecular Genetics, 2016, v. 25, n. 11, p. 2158, doi. 10.1093/hmg/ddw082
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- Publication type:
- Article
Integrating population variation and protein structural analysis to improve clinical interpretation of missense variation: application to the WD40 domain.
- Published in:
- Human Molecular Genetics, 2016, v. 25, n. 5, p. 927, doi. 10.1093/hmg/ddv625
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- Publication type:
- Article
DECIPHER: web-based, community resource for clinical interpretation of rare variants in developmental disorders.
- Published in:
- Human Molecular Genetics, 2012, v. 21, n. R1, p. R37, doi. 10.1093/hmg/dds362
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- Publication type:
- Article
The NHS England 100,000 Genomes Project: feasibility and utility of centralised genome sequencing for children with cancer.
- Published in:
- 2022
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- Publication type:
- journal article
Syndromic associations with congenital anomalies of the fetal thorax and abdomen.
- Published in:
- Prenatal Diagnosis, 2008, v. 28, n. 7, p. 676, doi. 10.1002/pd.2023
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- Publication type:
- Article
Prenatal diagnosis of Harlequin ichthyosis presenting as distal arthrogryposis using three-dimensional ultrasound.
- Published in:
- Prenatal Diagnosis, 2007, v. 27, n. 6, p. 566, doi. 10.1002/pd.1727
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- Publication type:
- Article
Fetal cardiac anomalies and genetic syndromes.
- Published in:
- 2004
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- Publication type:
- journal article
De novo putative loss‐of‐function variants in TAF4 are associated with a neuro‐developmental disorder.
- Published in:
- Human Mutation, 2022, v. 43, n. 12, p. 1844, doi. 10.1002/humu.24444
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- Publication type:
- Article
DECIPHER: Supporting the interpretation and sharing of rare disease phenotype‐linked variant data to advance diagnosis and research.
- Published in:
- Human Mutation, 2022, v. 43, n. 6, p. 682, doi. 10.1002/humu.24340
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- Publication type:
- Article
'Matching' consent to purpose: The example of the Matchmaker Exchange.
- Published in:
- Human Mutation, 2017, v. 38, n. 10, p. 1281, doi. 10.1002/humu.23278
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- Publication type:
- Article
The Matchmaker Exchange: A Platform for Rare Disease Gene Discovery.
- Published in:
- Human Mutation, 2015, v. 36, n. 10, p. 915, doi. 10.1002/humu.22858
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- Publication type:
- Article
Facilitating Collaboration in Rare Genetic Disorders Through Effective Matchmaking in DECIPHER.
- Published in:
- Human Mutation, 2015, v. 36, n. 10, p. 941, doi. 10.1002/humu.22842
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- Publication type:
- Article
Practical guidelines addressing ethical issues pertaining to the curation of human locus-specific variation databases (LSDBs).
- Published in:
- Human Mutation, 2010, v. 31, n. 11, p. 1179, doi. 10.1002/humu.21339
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- Publication type:
- Article
Mutations in MEF2C from the 5q14.3q15 microdeletion syndrome region are a frequent cause of severe mental retardation and diminish MECP2 and CDKL5 expression.
- Published in:
- Human Mutation, 2010, v. 31, n. 6, p. 722, doi. 10.1002/humu.21253
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- Publication type:
- Article
Identification of SATB2 as the cleft palate gene on 2q32–q33.
- Published in:
- Human Molecular Genetics, 2003, v. 12, n. 19, p. 2491, doi. 10.1093/hmg/ddg248
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- Publication type:
- Article
Allelic variation in normal human FBN1 expression in a family with Marfan syndrome: a potential modifier of phenotype?
- Published in:
- Human Molecular Genetics, 2003, v. 12, n. 18, p. 2269, doi. 10.1093/hmg/ddg241
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- Publication type:
- Article