Detalhe da pesquisa
1.
A syndromic neurodevelopmental disorder caused by rare variants in PPFIA3.
Am J Hum Genet
; 111(1): 96-118, 2024 Jan 04.
Artigo
em Inglês
| MEDLINE | ID: mdl-38181735
2.
Hemizygous variants in protein phosphatase 1 regulatory subunit 3F (PPP1R3F) are associated with a neurodevelopmental disorder characterized by developmental delay, intellectual disability and autistic features.
Hum Mol Genet
; 32(20): 2981-2995, 2023 Oct 04.
Artigo
em Inglês
| MEDLINE | ID: mdl-37531237
3.
Germline mutations in WNK2 could be associated with serrated polyposis syndrome.
J Med Genet
; 60(6): 557-567, 2023 06.
Artigo
em Inglês
| MEDLINE | ID: mdl-36270769
4.
Next-generation phenotyping contributing to the identification of a 4.7 kb deletion in KANSL1 causing Koolen-de Vries syndrome.
Hum Mutat
; 43(11): 1659-1665, 2022 11.
Artigo
em Inglês
| MEDLINE | ID: mdl-36104871
5.
A syndromic neurodevelopmental disorder caused by rare variants in PPFIA3.
Am J Hum Genet
; 111(4): 805, 2024 Apr 04.
Artigo
em Inglês
| MEDLINE | ID: mdl-38508193
6.
A syndromic neurodevelopmental disorder caused by rare variants in PPFIA3.
Am J Hum Genet
; 2024 May 08.
Artigo
em Inglês
| MEDLINE | ID: mdl-38723631
7.
Nine newly identified individuals refine the phenotype associated with MYT1L mutations.
Am J Med Genet A
; 182(5): 1021-1031, 2020 05.
Artigo
em Inglês
| MEDLINE | ID: mdl-32065501
8.
Basal cell carcinomas developing independently from BAP1-tumor predisposition syndrome in a patient with bilateral uveal melanoma: Diagnostic challenges to identify patients with BAP1-TPDS.
Genes Chromosomes Cancer
; 58(6): 357-364, 2019 06.
Artigo
em Inglês
| MEDLINE | ID: mdl-30578689
9.
Exome Sequencing Identifies Biallelic MSH3 Germline Mutations as a Recessive Subtype of Colorectal Adenomatous Polyposis.
Am J Hum Genet
; 99(2): 337-51, 2016 Aug 04.
Artigo
em Inglês
| MEDLINE | ID: mdl-27476653
10.
Diagnostic yield and clinical utility of a comprehensive gene panel for hereditary tumor syndromes.
Hered Cancer Clin Pract
; 17: 5, 2019.
Artigo
em Inglês
| MEDLINE | ID: mdl-30680046
11.
Copy number variation analysis and targeted NGS in 77 families with suspected Lynch syndrome reveals novel potential causative genes.
Int J Cancer
; 143(11): 2800-2813, 2018 12 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-29987844
12.
De novo FBXO11 mutations are associated with intellectual disability and behavioural anomalies.
Hum Genet
; 137(5): 401-411, 2018 May.
Artigo
em Inglês
| MEDLINE | ID: mdl-29796876
13.
Genomic and transcriptomic heterogeneity of colorectal tumours arising in Lynch syndrome.
J Pathol
; 243(2): 242-254, 2017 10.
Artigo
em Inglês
| MEDLINE | ID: mdl-28727142
14.
Low-level APC mutational mosaicism is the underlying cause in a substantial fraction of unexplained colorectal adenomatous polyposis cases.
J Med Genet
; 53(3): 172-9, 2016 Mar.
Artigo
em Inglês
| MEDLINE | ID: mdl-26613750
15.
Exome sequencing characterizes the somatic mutation spectrum of early serrated lesions in a patient with serrated polyposis syndrome (SPS).
Hered Cancer Clin Pract
; 15: 22, 2017.
Artigo
em Inglês
| MEDLINE | ID: mdl-29213343
16.
Synthesis of prebiotic organics from CO2 by catalysis with meteoritic and volcanic particles.
Sci Rep
; 13(1): 6843, 2023 May 25.
Artigo
em Inglês
| MEDLINE | ID: mdl-37231067
17.
Variants in FGF10 cause early onset of severe childhood interstitial lung disease: A detailed description of four affected children.
Pediatr Pulmonol
; 58(11): 3095-3105, 2023 11.
Artigo
em Inglês
| MEDLINE | ID: mdl-37560881
18.
Rare variants in PPFIA3 cause delayed development, intellectual disability, autism, and epilepsy.
medRxiv
; 2023 Mar 29.
Artigo
em Inglês
| MEDLINE | ID: mdl-37034625
19.
Solving the genetic aetiology of hereditary gastrointestinal tumour syndromes- a collaborative multicentre endeavour within the project Solve-RD.
Eur J Med Genet
; 65(5): 104475, 2022 May.
Artigo
em Inglês
| MEDLINE | ID: mdl-35283344
20.
GestaltMatcher facilitates rare disease matching using facial phenotype descriptors.
Nat Genet
; 54(3): 349-357, 2022 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-35145301