Detalhe da pesquisa
1.
Genomic signature of Fanconi anaemia DNA repair pathway deficiency in cancer.
Nature
; 612(7940): 495-502, 2022 12.
Artigo
em Inglês
| MEDLINE | ID: mdl-36450981
2.
De Novo and Bi-allelic Pathogenic Variants in NARS1 Cause Neurodevelopmental Delay Due to Toxic Gain-of-Function and Partial Loss-of-Function Effects.
Am J Hum Genet
; 107(2): 311-324, 2020 08 06.
Artigo
em Inglês
| MEDLINE | ID: mdl-32738225
3.
Comparison of the clinical phenotype and haematological course of siblings with Fanconi anaemia.
Br J Haematol
; 193(5): 971-975, 2021 06.
Artigo
em Inglês
| MEDLINE | ID: mdl-32866285
4.
Uner Tan syndrome caused by a homozygous TUBB2B mutation affecting microtubule stability.
Hum Mol Genet
; 26(2): 258-269, 2017 01 15.
Artigo
em Inglês
| MEDLINE | ID: mdl-28013290
5.
Mutations in MBOAT7, Encoding Lysophosphatidylinositol Acyltransferase I, Lead to Intellectual Disability Accompanied by Epilepsy and Autistic Features.
Am J Hum Genet
; 99(4): 912-916, 2016 Oct 06.
Artigo
em Inglês
| MEDLINE | ID: mdl-27616480
6.
Autosomal-Recessive Mutations in the tRNA Splicing Endonuclease Subunit TSEN15 Cause Pontocerebellar Hypoplasia and Progressive Microcephaly.
Am J Hum Genet
; 99(1): 228-35, 2016 Jul 07.
Artigo
em Inglês
| MEDLINE | ID: mdl-27392077
7.
Biallelic Mutations in Citron Kinase Link Mitotic Cytokinesis to Human Primary Microcephaly.
Am J Hum Genet
; 99(2): 501-10, 2016 Aug 04.
Artigo
em Inglês
| MEDLINE | ID: mdl-27453578
8.
A homozygous founder mutation in TRAPPC6B associates with a neurodevelopmental disorder characterised by microcephaly, epilepsy and autistic features.
J Med Genet
; 55(1): 48-54, 2018 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-28626029
9.
Identification of a homozygous nonsense mutation in KIAA0556 in a consanguineous family displaying Joubert syndrome.
Hum Genet
; 135(8): 919-921, 2016 08.
Artigo
em Inglês
| MEDLINE | ID: mdl-27245168
10.
Extending the mutation spectrum for Galloway-Mowat syndrome to include homozygous missense mutations in the WDR73 gene.
Am J Med Genet A
; 170A(4): 992-8, 2016 Apr.
Artigo
em Inglês
| MEDLINE | ID: mdl-27001912
11.
Autosomal-Recessive Mutations in the tRNA Splicing Endonuclease Subunit TSEN15 Cause Pontocerebellar Hypoplasia and Progressive Microcephaly.
Am J Hum Genet
; 99(3): 785, 2016 09 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-27588454
12.
The genetic landscape of autism spectrum disorders.
Dev Med Child Neurol
; 56(1): 12-8, 2014 Jan.
Artigo
em Inglês
| MEDLINE | ID: mdl-24116704
13.
Gorlin-Chaudhry-Moss syndrome revisited: expanding the phenotype.
Am J Med Genet A
; 161A(7): 1737-42, 2013 Jul.
Artigo
em Inglês
| MEDLINE | ID: mdl-23686885
14.
Loss of NARS1 impairs progenitor proliferation in cortical brain organoids and leads to microcephaly.
Nat Commun
; 11(1): 4038, 2020 08 12.
Artigo
em Inglês
| MEDLINE | ID: mdl-32788587
15.
Biallelic loss of human CTNNA2, encoding αN-catenin, leads to ARP2/3 complex overactivity and disordered cortical neuronal migration.
Nat Genet
; 50(8): 1093-1101, 2018 08.
Artigo
em Inglês
| MEDLINE | ID: mdl-30013181
16.
Author Correction: Loss of NARS1 impairs progenitor proliferation in cortical brain organoids and leads to microcephaly.
Nat Commun
; 12(1): 1192, 2021 Feb 15.
Artigo
em Inglês
| MEDLINE | ID: mdl-33589599
17.
Functional genome-wide siRNA screen identifies KIAA0586 as mutated in Joubert syndrome.
Elife
; 4: e06602, 2015 May 30.
Artigo
em Inglês
| MEDLINE | ID: mdl-26026149
18.
Primary cilia in neurodevelopmental disorders.
Nat Rev Neurol
; 10(1): 27-36, 2014 Jan.
Artigo
em Inglês
| MEDLINE | ID: mdl-24296655
19.
Novel mutation in the fukutin gene in an Egyptian family with Fukuyama congenital muscular dystrophy and microcephaly.
Gene
; 539(2): 279-82, 2014 Apr 15.
Artigo
em Inglês
| MEDLINE | ID: mdl-24530477
20.
Mutations in KATNB1 cause complex cerebral malformations by disrupting asymmetrically dividing neural progenitors.
Neuron
; 84(6): 1226-39, 2014 Dec 17.
Artigo
em Inglês
| MEDLINE | ID: mdl-25521378