Detalhe da pesquisa
1.
Rare EIF4A2 variants are associated with a neurodevelopmental disorder characterized by intellectual disability, hypotonia, and epilepsy.
Am J Hum Genet
; 110(1): 120-145, 2023 01 05.
Artigo
em Inglês
| MEDLINE | ID: mdl-36528028
2.
Variants in the degron of AFF3 are associated with intellectual disability, mesomelic dysplasia, horseshoe kidney, and epileptic encephalopathy.
Am J Hum Genet
; 108(5): 857-873, 2021 05 06.
Artigo
em Inglês
| MEDLINE | ID: mdl-33961779
3.
Severe isolated exudative vitreoretinopathy caused by biallelic FZD4 variants.
Clin Genet
; 105(6): 661-665, 2024 Jun.
Artigo
em Inglês
| MEDLINE | ID: mdl-38361102
4.
Delineation of a Human Mendelian Disorder of the DNA Demethylation Machinery: TET3 Deficiency.
Am J Hum Genet
; 106(2): 234-245, 2020 02 06.
Artigo
em Inglês
| MEDLINE | ID: mdl-31928709
5.
Personalised virtual gene panels reduce interpretation workload and maintain diagnostic rates of proband-only clinical exome sequencing for rare disorders.
J Med Genet
; 59(4): 393-398, 2022 04.
Artigo
em Inglês
| MEDLINE | ID: mdl-33879512
6.
Short amplicon reverse transcription-polymerase chain reaction detects aberrant splicing in genes with low expression in blood missed by ribonucleic acid sequencing analysis for clinical diagnosis.
Hum Mutat
; 43(7): 963-970, 2022 07.
Artigo
em Inglês
| MEDLINE | ID: mdl-35476365
7.
Biallelic variants in CENPF causing a phenotype distinct from Strømme syndrome.
Am J Med Genet C Semin Med Genet
; 190(1): 102-108, 2022 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-35488810
8.
Pathogenicity and selective constraint on variation near splice sites.
Genome Res
; 29(2): 159-170, 2019 02.
Artigo
em Inglês
| MEDLINE | ID: mdl-30587507
9.
Expanding the genotypic spectrum of TXNL4A variants in Burn-McKeown syndrome.
Clin Genet
; 101(2): 255-259, 2022 02.
Artigo
em Inglês
| MEDLINE | ID: mdl-34713892
10.
Embryonal sarcoma of the liver in a girl with Cockayne syndrome.
Clin Genet
; 101(3): 375-376, 2022 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-34878179
11.
A standard of care for individuals with PIK3CA-related disorders: An international expert consensus statement.
Clin Genet
; 101(1): 32-47, 2022 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-34240408
12.
Truncating and zinc-finger variants in GLI2 are associated with hypopituitarism.
Am J Med Genet A
; 188(4): 1065-1074, 2022 04.
Artigo
em Inglês
| MEDLINE | ID: mdl-34921505
13.
Rare EIF4A2 variants are associated with a neurodevelopmental disorder characterized by intellectual disability, hypotonia, and epilepsy.
Am J Hum Genet
; 110(3): 548, 2023 Mar 02.
Artigo
em Inglês
| MEDLINE | ID: mdl-36868207
14.
Biallelic variants in PCDHGC4 cause a novel neurodevelopmental syndrome with progressive microcephaly, seizures, and joint anomalies.
Genet Med
; 23(11): 2138-2149, 2021 11.
Artigo
em Inglês
| MEDLINE | ID: mdl-34244665
15.
Clinical utility of genetic testing in 201 preschool children with inherited eye disorders.
Genet Med
; 22(4): 745-751, 2020 04.
Artigo
em Inglês
| MEDLINE | ID: mdl-31848469
16.
SMAD6 variants in craniosynostosis: genotype and phenotype evaluation.
Genet Med
; 22(9): 1498-1506, 2020 09.
Artigo
em Inglês
| MEDLINE | ID: mdl-32499606
17.
Correction: SMAD6 variants in craniosynostosis: genotype and phenotype evaluation.
Genet Med
; 22(9): 1567, 2020 Sep.
Artigo
em Inglês
| MEDLINE | ID: mdl-32636483
18.
Null variants and deletions in BRWD3 cause an X-linked syndrome of mild-moderate intellectual disability, macrocephaly, and obesity: A series of 17 patients.
Am J Med Genet C Semin Med Genet
; 181(4): 638-643, 2019 12.
Artigo
em Inglês
| MEDLINE | ID: mdl-31714006
19.
The CHD8 overgrowth syndrome: A detailed evaluation of an emerging overgrowth phenotype in 27 patients.
Am J Med Genet C Semin Med Genet
; 181(4): 557-564, 2019 12.
Artigo
em Inglês
| MEDLINE | ID: mdl-31721432
20.
PEDIA: prioritization of exome data by image analysis.
Genet Med
; 21(12): 2807-2814, 2019 12.
Artigo
em Inglês
| MEDLINE | ID: mdl-31164752