Detalhe da pesquisa
1.
Large-Scale Exome Sequencing Study Implicates Both Developmental and Functional Changes in the Neurobiology of Autism.
Cell
; 180(3): 568-584.e23, 2020 02 06.
Artigo
em Inglês
| MEDLINE | ID: mdl-31981491
2.
Intellectual disability and autism in propionic acidemia: a biomarker-behavioral investigation implicating dysregulated mitochondrial biology.
Mol Psychiatry
; 2024 Jan 11.
Artigo
em Inglês
| MEDLINE | ID: mdl-38200289
3.
Strong evidence for genotype-phenotype correlations in Phelan-McDermid syndrome: results from the developmental synaptopathies consortium.
Hum Mol Genet
; 31(4): 625-637, 2022 02 21.
Artigo
em Inglês
| MEDLINE | ID: mdl-34559195
4.
GM1 Gangliosidosis Type II: Results of a 10-Year Prospective Study.
Genet Med
; : 101144, 2024 Apr 16.
Artigo
em Inglês
| MEDLINE | ID: mdl-38641994
5.
Evidence for common mechanisms of pathology between SHANK3 and other genes of Phelan-McDermid syndrome.
Clin Genet
; 105(5): 459-469, 2024 05.
Artigo
em Inglês
| MEDLINE | ID: mdl-38414139
6.
Characterization of seizures and EEG findings in creatine transporter deficiency due to SLC6A8 mutation.
Am J Med Genet A
; 194(2): 337-345, 2024 Feb.
Artigo
em Inglês
| MEDLINE | ID: mdl-37850681
7.
Attainment and loss of early social-communication skills across neurodevelopmental conditions in the Norwegian Mother, Father and Child Cohort Study.
J Child Psychol Psychiatry
; 65(5): 610-619, 2024 May.
Artigo
em Inglês
| MEDLINE | ID: mdl-36973172
8.
Genomic analysis, immunomodulation and deep phenotyping of patients with nodding syndrome.
Brain
; 146(3): 968-976, 2023 03 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-36181424
9.
Brain proton MR spectroscopy measurements in CLN3 disease.
Mol Genet Metab
; 139(1): 107584, 2023 05.
Artigo
em Inglês
| MEDLINE | ID: mdl-37086568
10.
Updated consensus guidelines on the management of Phelan-McDermid syndrome.
Am J Med Genet A
; 191(8): 2015-2044, 2023 08.
Artigo
em Inglês
| MEDLINE | ID: mdl-37392087
11.
Disentangling global and domain-level adaptive behavior trajectories among children with autism spectrum disorder.
J Child Psychol Psychiatry
; 64(6): 868-875, 2023 06.
Artigo
em Inglês
| MEDLINE | ID: mdl-36562498
12.
Use of the Vineland-3, a measure of adaptive functioning, in CLN3.
Am J Med Genet A
; 188(4): 1056-1064, 2022 04.
Artigo
em Inglês
| MEDLINE | ID: mdl-34913584
13.
TUBB3 Arg262His causes a recognizable syndrome including CFEOM3, facial palsy, joint contractures, and early-onset peripheral neuropathy.
Hum Genet
; 140(12): 1709-1731, 2021 Dec.
Artigo
em Inglês
| MEDLINE | ID: mdl-34652576
14.
Neurofilament light chain levels correlate with clinical measures in CLN3 disease.
Genet Med
; 23(4): 751-757, 2021 04.
Artigo
em Inglês
| MEDLINE | ID: mdl-33239751
15.
X-linked creatine transporter deficiency results in prolonged QTc and increased sudden death risk in humans and disease model.
Genet Med
; 23(10): 1864-1872, 2021 10.
Artigo
em Inglês
| MEDLINE | ID: mdl-34050321
16.
Severity modeling of propionic acidemia using clinical and laboratory biomarkers.
Genet Med
; 23(8): 1534-1542, 2021 08.
Artigo
em Inglês
| MEDLINE | ID: mdl-34007002
17.
1-13C-propionate breath testing as a surrogate endpoint to assess efficacy of liver-directed therapies in methylmalonic acidemia (MMA).
Genet Med
; 23(8): 1522-1533, 2021 08.
Artigo
em Inglês
| MEDLINE | ID: mdl-33820958
18.
Large-scale analyses of the relationship between sex, age and intelligence quotient heterogeneity and cortical morphometry in autism spectrum disorder.
Mol Psychiatry
; 25(3): 614-628, 2020 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-31028290
19.
Characterizing upper limb function in the context of activities of daily living in CLN3 disease.
Am J Med Genet A
; 185(5): 1399-1413, 2021 05.
Artigo
em Inglês
| MEDLINE | ID: mdl-33559393
20.
Patterns of delay in early gross motor and expressive language milestone attainment in probands with genetic conditions versus idiopathic ASD from SFARI registries.
J Child Psychol Psychiatry
; 62(11): 1297-1307, 2021 11.
Artigo
em Inglês
| MEDLINE | ID: mdl-34382689