Detalhe da pesquisa
1.
A recurrent de novo MAX p.Arg60Gln variant causes a syndromic overgrowth disorder through differential expression of c-Myc target genes.
Am J Hum Genet;
111(1): 119-132, 2024 Jan 04.
Artigo
em Inglês
| MEDLINE
| ID: mdl-38141607
2.
PSMC5 insufficiency and P320R mutation impair proteasome function.
Hum Mol Genet;
2024 May 22.
Artigo
em Inglês
| MEDLINE
| ID: mdl-38776958
3.
DECIPHER: Improving Genetic Diagnosis Through Dynamic Integration of Genomic and Clinical Data.
Annu Rev Genomics Hum Genet;
24: 151-176, 2023 08 25.
Artigo
em Inglês
| MEDLINE
| ID: mdl-37285546
4.
Genomic Diagnosis of Rare Pediatric Disease in the United Kingdom and Ireland.
N Engl J Med;
388(17): 1559-1571, 2023 Apr 27.
Artigo
em Inglês
| MEDLINE
| ID: mdl-37043637
5.
A framework for an evidence-based gene list relevant to autism spectrum disorder.
Nat Rev Genet;
21(6): 367-376, 2020 06.
Artigo
em Inglês
| MEDLINE
| ID: mdl-32317787
6.
Evidence for 28 genetic disorders discovered by combining healthcare and research data.
Nature;
586(7831): 757-762, 2020 10.
Artigo
em Inglês
| MEDLINE
| ID: mdl-33057194
7.
The Human Phenotype Ontology in 2024: phenotypes around the world.
Nucleic Acids Res;
52(D1): D1333-D1346, 2024 Jan 05.
Artigo
em Inglês
| MEDLINE
| ID: mdl-37953324
8.
Detecting cryptic clinically relevant structural variation in exome-sequencing data increases diagnostic yield for developmental disorders.
Am J Hum Genet;
108(11): 2186-2194, 2021 11 04.
Artigo
em Inglês
| MEDLINE
| ID: mdl-34626536
9.
Non-coding region variants upstream of MEF2C cause severe developmental disorder through three distinct loss-of-function mechanisms.
Am J Hum Genet;
108(6): 1083-1094, 2021 06 03.
Artigo
em Inglês
| MEDLINE
| ID: mdl-34022131
10.
Toward robust clinical genome interpretation: Developing a consistent terminology to characterize Mendelian disease-gene relationships-allelic requirement, inheritance modes, and disease mechanisms.
Genet Med;
26(2): 101029, 2024 Feb.
Artigo
em Inglês
| MEDLINE
| ID: mdl-37982373
11.
Paediatric genomics: diagnosing rare disease in children.
Nat Rev Genet;
19(5): 253-268, 2018 05.
Artigo
em Inglês
| MEDLINE
| ID: mdl-29398702
12.
Paediatric genomics: diagnosing rare disease in children.
Nat Rev Genet;
19(5): 325, 2018 05.
Artigo
em Inglês
| MEDLINE
| ID: mdl-29456250
13.
De novo mutations in regulatory elements in neurodevelopmental disorders.
Nature;
555(7698): 611-616, 2018 03 29.
Artigo
em Inglês
| MEDLINE
| ID: mdl-29562236
14.
Common genetic variants contribute to risk of rare severe neurodevelopmental disorders.
Nature;
562(7726): 268-271, 2018 10.
Artigo
em Inglês
| MEDLINE
| ID: mdl-30258228
15.
Genomically Aided Diagnosis of Severe Developmental Disorders.
Annu Rev Genomics Hum Genet;
21: 327-349, 2020 08 31.
Artigo
em Inglês
| MEDLINE
| ID: mdl-32421356
16.
Trappc9 deficiency causes parent-of-origin dependent microcephaly and obesity.
PLoS Genet;
16(9): e1008916, 2020 09.
Artigo
em Inglês
| MEDLINE
| ID: mdl-32877400
17.
DECIPHER: Supporting the interpretation and sharing of rare disease phenotype-linked variant data to advance diagnosis and research.
Hum Mutat;
43(6): 682-697, 2022 06.
Artigo
em Inglês
| MEDLINE
| ID: mdl-35143074
18.
De novo putative loss-of-function variants in TAF4 are associated with a neuro-developmental disorder.
Hum Mutat;
43(12): 1844-1851, 2022 12.
Artigo
em Inglês
| MEDLINE
| ID: mdl-35904126
19.
Finding Diagnostically Useful Patterns in Quantitative Phenotypic Data.
Am J Hum Genet;
105(5): 933-946, 2019 11 07.
Artigo
em Inglês
| MEDLINE
| ID: mdl-31607427
20.
De Novo Variants Disturbing the Transactivation Capacity of POU3F3 Cause a Characteristic Neurodevelopmental Disorder.
Am J Hum Genet;
105(2): 403-412, 2019 08 01.
Artigo
em Inglês
| MEDLINE
| ID: mdl-31303265