Detalhe da pesquisa
1.
Bi-allelic genetic variants in the translational GTPases GTPBP1 and GTPBP2 cause a distinct identical neurodevelopmental syndrome.
Am J Hum Genet
; 111(1): 200-210, 2024 Jan 04.
Artigo
em Inglês
| MEDLINE | ID: mdl-38118446
2.
Bi-allelic variants in INTS11 are associated with a complex neurological disorder.
Am J Hum Genet
; 110(5): 774-789, 2023 05 04.
Artigo
em Inglês
| MEDLINE | ID: mdl-37054711
3.
Rare and de novo coding variants in chromodomain genes in Chiari I malformation.
Am J Hum Genet
; 108(1): 100-114, 2021 01 07.
Artigo
em Inglês
| MEDLINE | ID: mdl-33352116
4.
SCUBE3 loss-of-function causes a recognizable recessive developmental disorder due to defective bone morphogenetic protein signaling.
Am J Hum Genet
; 108(1): 115-133, 2021 01 07.
Artigo
em Inglês
| MEDLINE | ID: mdl-33308444
5.
Biallelic Variants of MRPS36 Cause a New Form of Leigh Syndrome.
Mov Disord
; 2024 Apr 30.
Artigo
em Inglês
| MEDLINE | ID: mdl-38685873
6.
Massive pericardial effusion in an infant with Aymé-Gripp syndrome: A case report and review of the literature.
Am J Med Genet A
; : e63586, 2024 May 06.
Artigo
em Inglês
| MEDLINE | ID: mdl-38709155
7.
A Recurrent Gain-of-Function Mutation in CLCN6, Encoding the ClC-6 Cl-/H+-Exchanger, Causes Early-Onset Neurodegeneration.
Am J Hum Genet
; 107(6): 1062-1077, 2020 12 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-33217309
8.
Bi-allelic Variants in the GPI Transamidase Subunit PIGK Cause a Neurodevelopmental Syndrome with Hypotonia, Cerebellar Atrophy, and Epilepsy.
Am J Hum Genet
; 106(4): 484-495, 2020 04 02.
Artigo
em Inglês
| MEDLINE | ID: mdl-32220290
9.
De novo variants in CNOT9 cause a neurodevelopmental disorder with or without epilepsy.
Genet Med
; 25(7): 100859, 2023 Jul.
Artigo
em Inglês
| MEDLINE | ID: mdl-37092538
10.
Delineation of a KDM2B-related neurodevelopmental disorder and its associated DNA methylation signature.
Genet Med
; 25(1): 49-62, 2023 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-36322151
11.
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
12.
Congenital heart defects in CTNNB1 syndrome: Raising clinical awareness.
Clin Genet
; 104(5): 528-541, 2023 11.
Artigo
em Inglês
| MEDLINE | ID: mdl-37455656
13.
POU3F3-related disorder: Defining the phenotype and expanding the molecular spectrum.
Clin Genet
; 104(2): 186-197, 2023 08.
Artigo
em Inglês
| MEDLINE | ID: mdl-37165752
14.
The MAP3K7 gene: Further delineation of clinical characteristics and genotype/phenotype correlations.
Hum Mutat
; 43(10): 1377-1395, 2022 10.
Artigo
em Inglês
| MEDLINE | ID: mdl-35730652
15.
De Novo Variants Disturbing the Transactivation Capacity of POU3F3 Cause a Characteristic Neurodevelopmental Disorder.
Am J Hum Genet
; 105(2): 403-412, 2019 08 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-31303265
16.
SHP2's gain-of-function in Werner syndrome causes childhood disease onset likely resulting from negative genetic interaction.
Clin Genet
; 102(1): 12-21, 2022 07.
Artigo
em Inglês
| MEDLINE | ID: mdl-35396703
17.
Biallelic variants in ZNF142 lead to a syndromic neurodevelopmental disorder.
Clin Genet
; 102(2): 98-109, 2022 08.
Artigo
em Inglês
| MEDLINE | ID: mdl-35616059
18.
Biallelic Inactivating TUB Variants Cause Retinal Ciliopathy Impairing Biogenesis and the Structure of the Primary Cilium.
Int J Mol Sci
; 23(23)2022 Nov 24.
Artigo
em Inglês
| MEDLINE | ID: mdl-36498982
19.
Clinical Utility of a Unique Genome-Wide DNA Methylation Signature for KMT2A-Related Syndrome.
Int J Mol Sci
; 23(3)2022 Feb 05.
Artigo
em Inglês
| MEDLINE | ID: mdl-35163737
20.
Expanding the KIF4A-associated phenotype.
Am J Med Genet A
; 185(12): 3728-3739, 2021 12.
Artigo
em Inglês
| MEDLINE | ID: mdl-34346154