Detalhe da pesquisa
1.
Clustered de novo start-loss variants in GLUL result in a developmental and epileptic encephalopathy via stabilization of glutamine synthetase.
Am J Hum Genet
; 111(4): 729-741, 2024 Apr 04.
Artigo
em Inglês
| MEDLINE | ID: mdl-38579670
2.
Recurrent de novo missense variants across multiple histone H4 genes underlie a neurodevelopmental syndrome.
Am J Hum Genet
; 109(4): 750-758, 2022 04 07.
Artigo
em Inglês
| MEDLINE | ID: mdl-35202563
3.
Further delineation of short-chain enoyl-CoA hydratase deficiency in the Pacific population.
Mol Genet Metab
; 142(3): 108508, 2024 May 25.
Artigo
em Inglês
| MEDLINE | ID: mdl-38820906
4.
Pathogenic FLNA variants affecting the hinge region of filamin A are associated with male survival.
Am J Med Genet A
; : e63779, 2024 Jun 10.
Artigo
em Inglês
| MEDLINE | ID: mdl-38853608
5.
Deep phenotyping of the neuroimaging and skeletal features in KBG syndrome: a study of 53 patients and review of the literature.
J Med Genet
; 60(12): 1224-1234, 2023 Nov 27.
Artigo
em Inglês
| MEDLINE | ID: mdl-37586838
6.
Mitochondrial disease in New Zealand: a nationwide prevalence study.
Intern Med J
; 54(3): 388-397, 2024 Mar.
Artigo
em Inglês
| MEDLINE | ID: mdl-37732891
7.
Prospective development study of the Versius Surgical System for use in transoral robotic surgery: an IDEAL stage 1/2a first in human and initial case series experience.
Eur Arch Otorhinolaryngol
; 281(5): 2667-2678, 2024 May.
Artigo
em Inglês
| MEDLINE | ID: mdl-38530463
8.
Nosology of genetic skeletal disorders: 2023 revision.
Am J Med Genet A
; 191(5): 1164-1209, 2023 May.
Artigo
em Inglês
| MEDLINE | ID: mdl-36779427
9.
Functional correlation of genome-wide DNA methylation profiles in genetic neurodevelopmental disorders.
Hum Mutat
; 43(11): 1609-1628, 2022 11.
Artigo
em Inglês
| MEDLINE | ID: mdl-35904121
10.
ECE2 regulates neurogenesis and neuronal migration during human cortical development.
EMBO Rep
; 21(5): e48204, 2020 05 06.
Artigo
em Inglês
| MEDLINE | ID: mdl-32207244
11.
Integrated in silico and experimental assessment of disease relevance of PCDH19 missense variants.
Hum Mutat
; 42(8): 1030-1041, 2021 08.
Artigo
em Inglês
| MEDLINE | ID: mdl-34082468
12.
Recessive Spondylocarpotarsal Synostosis Syndrome Due to Compound Heterozygosity for Variants in MYH3.
Am J Hum Genet
; 102(6): 1115-1125, 2018 06 07.
Artigo
em Inglês
| MEDLINE | ID: mdl-29805041
13.
Frontometaphyseal dysplasia 1 in a patient from Sri Lanka.
Am J Med Genet A
; 185(4): 1317-1320, 2021 04.
Artigo
em Inglês
| MEDLINE | ID: mdl-33372358
14.
Exon skip-inducing variants in FLNA in an attenuated form of frontometaphyseal dysplasia.
Am J Med Genet A
; 185(12): 3675-3682, 2021 12.
Artigo
em Inglês
| MEDLINE | ID: mdl-34272929
15.
Terminal osseous dysplasia with pigmentary defects and cardiomyopathy caused by a novel FLNA variant.
Am J Med Genet A
; 185(12): 3814-3820, 2021 12.
Artigo
em Inglês
| MEDLINE | ID: mdl-34254723
16.
Effects of food restriction on the conditioned reinforcing properties of an opioid-associated stimulus.
Behav Pharmacol
; 32(6): 505-514, 2021 09 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-34320518
17.
De novo and inherited private variants in MAP1B in periventricular nodular heterotopia.
PLoS Genet
; 14(5): e1007281, 2018 05.
Artigo
em Inglês
| MEDLINE | ID: mdl-29738522
18.
The X-linked filaminopathies: Synergistic insights from clinical and molecular analysis.
Hum Mutat
; 41(5): 865-883, 2020 05.
Artigo
em Inglês
| MEDLINE | ID: mdl-32108395
19.
Int22h1/Int22h2-mediated Xq28 duplication syndrome: de novo duplications, prenatal diagnoses, and additional phenotypic features.
Hum Mutat
; 41(7): 1238-1249, 2020 07.
Artigo
em Inglês
| MEDLINE | ID: mdl-32112660
20.
Biallelic loss-of-function variants in TBC1D2B cause a neurodevelopmental disorder with seizures and gingival overgrowth.
Hum Mutat
; 41(9): 1645-1661, 2020 09.
Artigo
em Inglês
| MEDLINE | ID: mdl-32623794