Detalhe da pesquisa
1.
Rare germline heterozygous missense variants in BRCA1-associated protein 1, BAP1, cause a syndromic neurodevelopmental disorder.
Am J Hum Genet
; 109(2): 361-372, 2022 02 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-35051358
2.
L-serine treatment in patients with GRIN-related encephalopathy: a phase 2A, non-randomized study.
Brain
; 147(5): 1653-1666, 2024 May 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-38380699
3.
Heterozygous loss-of-function variants in DOCK4 cause neurodevelopmental delay and microcephaly.
Hum Genet
; 143(3): 455-469, 2024 Mar.
Artigo
em Inglês
| MEDLINE | ID: mdl-38526744
4.
Functional and clinical studies reveal pathophysiological complexity of CLCN4-related neurodevelopmental condition.
Mol Psychiatry
; 28(2): 668-697, 2023 02.
Artigo
em Inglês
| MEDLINE | ID: mdl-36385166
5.
Growth charts in DYRK1A syndrome.
Am J Med Genet A
; 194(1): 9-16, 2024 Jan.
Artigo
em Inglês
| MEDLINE | ID: mdl-37740550
6.
De novo variants predicting haploinsufficiency for DIP2C are associated with expressive speech delay.
Am J Med Genet A
; : e63559, 2024 Feb 29.
Artigo
em Inglês
| MEDLINE | ID: mdl-38421105
7.
Integrating RNA-Seq into genome sequencing workflow enhances the analysis of structural variants causing neurodevelopmental disorders.
J Med Genet
; 61(1): 47-56, 2023 Dec 21.
Artigo
em Inglês
| MEDLINE | ID: mdl-37495270
8.
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
9.
Heterozygous Variants in KDM4B Lead to Global Developmental Delay and Neuroanatomical Defects.
Am J Hum Genet
; 107(6): 1170-1177, 2020 12 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-33232677
10.
Expanding SPTAN1 monoallelic variant associated disorders: From epileptic encephalopathy to pure spastic paraplegia and ataxia.
Genet Med
; 25(1): 76-89, 2023 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-36331550
11.
Clinical, neuroradiological, and molecular characterization of mitochondrial threonyl-tRNA-synthetase (TARS2)-related disorder.
Genet Med
; 25(11): 100938, 2023 11.
Artigo
em Inglês
| MEDLINE | ID: mdl-37454282
12.
Delineation of the clinical profile of CNOT2 haploinsufficiency and overview of the IDNADFS phenotype.
Clin Genet
; 103(2): 156-166, 2023 02.
Artigo
em Inglês
| MEDLINE | ID: mdl-36224108
13.
Clinical and genomic delineation of the new proximal 19p13.3 microduplication syndrome.
Am J Med Genet A
; 191(1): 52-63, 2023 Jan.
Artigo
em Inglês
| MEDLINE | ID: mdl-36196855
14.
Abnormalities of the corpus callosum. Can prenatal imaging predict the genetic status? Correlations between imaging phenotype and genotype.
Prenat Diagn
; 43(6): 746-755, 2023 06.
Artigo
em Inglês
| MEDLINE | ID: mdl-37173814
15.
Patients with KCNH1-related intellectual disability without distinctive features of Zimmermann-Laband/Temple-Baraitser syndrome.
J Med Genet
; 59(5): 505-510, 2022 05.
Artigo
em Inglês
| MEDLINE | ID: mdl-33811134
16.
Targeted next-generation sequencing in a large series of fetuses with severe renal diseases.
Hum Mutat
; 43(3): 347-361, 2022 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-35005812
17.
MYT1L-associated neurodevelopmental disorder: description of 40 new cases and literature review of clinical and molecular aspects.
Hum Genet
; 141(1): 65-80, 2022 Jan.
Artigo
em Inglês
| MEDLINE | ID: mdl-34748075
18.
RPL13 Variants Cause Spondyloepimetaphyseal Dysplasia with Severe Short Stature.
Am J Hum Genet
; 105(5): 1040-1047, 2019 11 07.
Artigo
em Inglês
| MEDLINE | ID: mdl-31630789
19.
Expanding the genotype and phenotype spectrum of SYT1-associated neurodevelopmental disorder.
Genet Med
; 24(4): 880-893, 2022 04.
Artigo
em Inglês
| MEDLINE | ID: mdl-35101335
20.
Loss-of-function variants in SRRM2 cause a neurodevelopmental disorder.
Genet Med
; 24(8): 1774-1780, 2022 08.
Artigo
em Inglês
| MEDLINE | ID: mdl-35567594