Detalhe da pesquisa
1.
The clinical utility and diagnostic implementation of human subject cell transdifferentiation followed by RNA sequencing.
Am J Hum Genet
; 111(5): 841-862, 2024 May 02.
Artigo
em Inglês
| MEDLINE | ID: mdl-38593811
2.
Monoallelic variation in DHX9, the gene encoding the DExH-box helicase DHX9, underlies neurodevelopment disorders and Charcot-Marie-Tooth disease.
Am J Hum Genet
; 110(8): 1394-1413, 2023 08 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-37467750
3.
Chromosome catastrophes involve replication mechanisms generating complex genomic rearrangements.
Cell
; 146(6): 889-903, 2011 Sep 16.
Artigo
em Inglês
| MEDLINE | ID: mdl-21925314
4.
Assigning pathogenicity for TAB2 variants using a novel scalable functional assay and expanding TAB2 disease spectrum.
Hum Mol Genet
; 32(6): 959-970, 2023 03 06.
Artigo
em Inglês
| MEDLINE | ID: mdl-36229919
5.
Heterozygous MAP3K20 variants cause ectodermal dysplasia, craniosynostosis, sensorineural hearing loss, and limb anomalies.
Hum Genet
; 143(3): 279-291, 2024 Mar.
Artigo
em Inglês
| MEDLINE | ID: mdl-38451290
6.
Improving access to exome sequencing in a medically underserved population through the Texome Project.
Genet Med
; 26(6): 101102, 2024 Feb 29.
Artigo
em Inglês
| MEDLINE | ID: mdl-38431799
7.
Clinical exome sequencing uncovers genetic disorders in neonates with suspected hypoxic-ischemic encephalopathy: A retrospective analysis.
Clin Genet
; 2024 Mar 28.
Artigo
em Inglês
| MEDLINE | ID: mdl-38545656
8.
Intracranial calcifications simulating Aicardi-Goutières syndrome in PARS2-related mitochondrial disease.
Am J Med Genet A
; : e63589, 2024 Mar 12.
Artigo
em Inglês
| MEDLINE | ID: mdl-38469956
9.
Neurodevelopmental and other phenotypes recurrently associated with heterozygous BAZ2B loss-of-function variants.
Am J Med Genet A
; 194(3): e63445, 2024 Mar.
Artigo
em Inglês
| MEDLINE | ID: mdl-37872713
10.
Loss-of-function variants in MYCBP2 cause neurobehavioural phenotypes and corpus callosum defects.
Brain
; 146(4): 1373-1387, 2023 04 19.
Artigo
em Inglês
| MEDLINE | ID: mdl-36200388
11.
Biallelic MED27 variants lead to variable ponto-cerebello-lental degeneration with movement disorders.
Brain
; 146(12): 5031-5043, 2023 12 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-37517035
12.
Dominant negative variants in IKZF2 cause ICHAD syndrome, a new disorder characterised by immunodysregulation, craniofacial anomalies, hearing impairment, athelia and developmental delay.
J Med Genet
; 60(11): 1092-1104, 2023 Nov.
Artigo
em Inglês
| MEDLINE | ID: mdl-37316189
13.
Variants in SCAF4 Cause a Neurodevelopmental Disorder and Are Associated with Impaired mRNA Processing.
Am J Hum Genet
; 107(3): 544-554, 2020 09 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-32730804
14.
Biallelic variants in CRIPT cause a Rothmund-Thomson-like syndrome with increased cellular senescence.
Genet Med
; 25(7): 100836, 2023 Jul.
Artigo
em Inglês
| MEDLINE | ID: mdl-37013901
15.
Natural history of TANGO2 deficiency disorder: Baseline assessment of 73 patients.
Genet Med
; 25(4): 100352, 2023 04.
Artigo
em Inglês
| MEDLINE | ID: mdl-36473599
16.
Loss of Neuron Navigator 2 Impairs Brain and Cerebellar Development.
Cerebellum
; 22(2): 206-222, 2023 Apr.
Artigo
em Inglês
| MEDLINE | ID: mdl-35218524
17.
Early initiation of B-vitamin supplementation may reduce symptoms and explain intrafamilial variability: Insights from two sibling pairs from the TANGO2 natural history study.
Am J Med Genet A
; 191(9): 2433-2439, 2023 09.
Artigo
em Inglês
| MEDLINE | ID: mdl-37421366
18.
Clinical exome sequencing data reveal high diagnostic yields for congenital diaphragmatic hernia plus (CDH+) and new phenotypic expansions involving CDH.
J Med Genet
; 59(3): 270-278, 2022 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-33461977
19.
Delineation of a novel neurodevelopmental syndrome associated with PAX5 haploinsufficiency.
Hum Mutat
; 43(4): 461-470, 2022 04.
Artigo
em Inglês
| MEDLINE | ID: mdl-35094443
20.
Aberrant Function of the C-Terminal Tail of HIST1H1E Accelerates Cellular Senescence and Causes Premature Aging.
Am J Hum Genet
; 105(3): 493-508, 2019 09 05.
Artigo
em Inglês
| MEDLINE | ID: mdl-31447100