Detalhe da pesquisa
1.
The next-generation sequencing revolution and its impact on genomics.
Cell
; 155(1): 27-38, 2013 Sep 26.
Artigo
em Inglês
| MEDLINE | ID: mdl-24074859
2.
Mono-allelic KCNB2 variants lead to a neurodevelopmental syndrome caused by altered channel inactivation.
Am J Hum Genet
; 111(4): 761-777, 2024 Apr 04.
Artigo
em Inglês
| MEDLINE | ID: mdl-38503299
3.
The origin and evolution of mutations in acute myeloid leukemia.
Cell
; 150(2): 264-78, 2012 Jul 20.
Artigo
em Inglês
| MEDLINE | ID: mdl-22817890
4.
De novo variants in ATP2B1 lead to neurodevelopmental delay.
Am J Hum Genet
; 109(5): 944-952, 2022 05 05.
Artigo
em Inglês
| MEDLINE | ID: mdl-35358416
5.
Author Correction: Exome sequencing of Finnish isolates enhances rare-variant association power.
Nature
; 575(7783): E4, 2019 Nov.
Artigo
em Inglês
| MEDLINE | ID: mdl-31686056
6.
Exome sequencing of Finnish isolates enhances rare-variant association power.
Nature
; 572(7769): 323-328, 2019 08.
Artigo
em Inglês
| MEDLINE | ID: mdl-31367044
7.
A novel IKZF1 variant in a family with autosomal dominant CVID: A case for expanding exon coverage in inborn errors of immunity.
Clin Immunol
; 264: 110244, 2024 May 09.
Artigo
em Inglês
| MEDLINE | ID: mdl-38734037
8.
Cerebral organoids containing an AUTS2 missense variant model microcephaly.
Brain
; 146(1): 387-404, 2023 01 05.
Artigo
em Inglês
| MEDLINE | ID: mdl-35802027
9.
Infantile metastatic ependymoma with a novel molecular profile and favorable outcome to intensive chemotherapy without irradiation: Case-based review.
Genes Chromosomes Cancer
; 62(1): 39-46, 2023 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-35716171
10.
Mutations in the Kinesin-2 Motor KIF3B Cause an Autosomal-Dominant Ciliopathy.
Am J Hum Genet
; 106(6): 893-904, 2020 06 04.
Artigo
em Inglês
| MEDLINE | ID: mdl-32386558
11.
Dominant-negative variants in CBX1 cause a neurodevelopmental disorder.
Genet Med
; 25(7): 100861, 2023 Jul.
Artigo
em Inglês
| MEDLINE | ID: mdl-37087635
12.
Missense MED12 variants in 22 males with intellectual disability: From nonspecific symptoms to complete syndromes.
Am J Med Genet A
; 191(1): 135-143, 2023 Jan.
Artigo
em Inglês
| MEDLINE | ID: mdl-36271811
13.
Long-read whole genome sequencing reveals HOXD13 alterations in synpolydactyly.
Hum Mutat
; 43(2): 189-199, 2022 02.
Artigo
em Inglês
| MEDLINE | ID: mdl-34859533
14.
Expanding the phenotypic and molecular spectrum of NFS1-related disorders that cause functional deficiencies in mitochondrial and cytosolic iron-sulfur cluster containing enzymes.
Hum Mutat
; 43(3): 305-315, 2022 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-35026043
15.
Case report and review of the literature: immune dysregulation in a large familial cohort due to a novel pathogenic RELA variant.
Rheumatology (Oxford)
; 62(1): 347-359, 2022 12 23.
Artigo
em Inglês
| MEDLINE | ID: mdl-35412596
16.
Detection of brain somatic variation in epilepsy-associated developmental lesions.
Epilepsia
; 63(8): 1981-1997, 2022 08.
Artigo
em Inglês
| MEDLINE | ID: mdl-35687047
17.
PTEN somatic mutations contribute to spectrum of cerebral overgrowth.
Brain
; 144(10): 2971-2978, 2021 11 29.
Artigo
em Inglês
| MEDLINE | ID: mdl-34048549
18.
Discovery of clinically relevant fusions in pediatric cancer.
BMC Genomics
; 22(1): 872, 2021 Dec 04.
Artigo
em Inglês
| MEDLINE | ID: mdl-34863095
19.
Hypomorphic alleles pose challenges in rare disease genomic variant interpretation.
Clin Genet
; 100(6): 775-776, 2021 12.
Artigo
em Inglês
| MEDLINE | ID: mdl-34476810
20.
The Genotypic and Phenotypic Spectrum of BICD2 Variants in Spinal Muscular Atrophy.
Ann Neurol
; 87(4): 487-496, 2020 04.
Artigo
em Inglês
| MEDLINE | ID: mdl-32057122