Detalhe da pesquisa
1.
De novo missense variants in FBXO11 alter its protein expression and subcellular localization.
Hum Mol Genet
; 31(3): 440-454, 2022 02 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-34505148
2.
Clinical description, molecular delineation and genotype-phenotype correlation in 340 patients with KBG syndrome: addition of 67 new patients.
J Med Genet
; 60(7): 644-654, 2023 07.
Artigo
em Inglês
| MEDLINE | ID: mdl-36446582
3.
YWHAE loss of function causes a rare neurodevelopmental disease with brain abnormalities in human and mouse.
Genet Med
; 25(7): 100835, 2023 Jul.
Artigo
em Inglês
| MEDLINE | ID: mdl-36999555
4.
The clinical and molecular spectrum of QRICH1 associated neurodevelopmental disorder.
Hum Mutat
; 43(2): 266-282, 2022 02.
Artigo
em Inglês
| MEDLINE | ID: mdl-34859529
5.
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
6.
Broadening the phenotypic spectrum of EVEN-PLUS syndrome through identification of HSPA9 pathogenic variants in the original EVE dysplasia family and two sibs with milder facial phenotype.
Am J Med Genet A
; 188(9): 2819-2824, 2022 09.
Artigo
em Inglês
| MEDLINE | ID: mdl-35779070
7.
Heterozygous variants in PRPF8 are associated with neurodevelopmental disorders.
Am J Med Genet A
; 188(9): 2750-2759, 2022 09.
Artigo
em Inglês
| MEDLINE | ID: mdl-35543142
8.
Phenotypic expansion of CACNA1C-associated disorders to include isolated neurological manifestations.
Genet Med
; 23(10): 1922-1932, 2021 10.
Artigo
em Inglês
| MEDLINE | ID: mdl-34163037
9.
DLG4-related synaptopathy: a new rare brain disorder.
Genet Med
; 23(5): 888-899, 2021 05.
Artigo
em Inglês
| MEDLINE | ID: mdl-33597769
10.
Delineation of the clinical and radiological features of Stuve-Wiedemann syndrome childhood survivors, four new cases and review of the literature.
Am J Med Genet A
; 185(3): 856-865, 2021 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-33305909
11.
ZTTK syndrome: Clinical and molecular findings of 15 cases and a review of the literature.
Am J Med Genet A
; 185(12): 3740-3753, 2021 12.
Artigo
em Inglês
| MEDLINE | ID: mdl-34331327
12.
Biallelic MADD variants cause a phenotypic spectrum ranging from developmental delay to a multisystem disorder.
Brain
; 143(8): 2437-2453, 2020 08 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-32761064
13.
Further delineation of putative ACTB loss-of-function variants: A 4-patient series.
Hum Mutat
; 41(4): 753-758, 2020 04.
Artigo
em Inglês
| MEDLINE | ID: mdl-31898838
14.
Skin and nails abnormalities in a patient with ZTTK syndrome and a de novo mutation in SON.
Pediatr Dermatol
; 37(3): 517-519, 2020 May.
Artigo
em Inglês
| MEDLINE | ID: mdl-32045494
15.
Exome sequencing in Crisponi/cold-induced sweating syndrome-like individuals reveals unpredicted alternative diagnoses.
Clin Genet
; 95(5): 607-614, 2019 05.
Artigo
em Inglês
| MEDLINE | ID: mdl-30859550
16.
MAGEL2-related disorders: A study and case series.
Clin Genet
; 96(6): 493-505, 2019 12.
Artigo
em Inglês
| MEDLINE | ID: mdl-31397880
17.
Correction: Phenotypic expansion of CACNA1C-associated disorders to include isolated neurological manifestations.
Genet Med
; 23(10): 2016, 2021 Oct.
Artigo
em Inglês
| MEDLINE | ID: mdl-34522029
18.
Molecular and histologic insights on early onset cardiomyopathy in Danon disease females.
Clin Genet
; 99(3): 481-483, 2021 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-33226119
19.
Pathogenic variants in KPTN, a rare cause of macrocephaly and intellectual disability.
Am J Med Genet A
; 182(10): 2222-2225, 2020 10.
Artigo
em Inglês
| MEDLINE | ID: mdl-32808430
20.
New microdeletion and microduplication syndromes: A comprehensive review.
Genet Mol Biol
; 37(1 Suppl): 210-9, 2014 Mar.
Artigo
em Inglês
| MEDLINE | ID: mdl-24764755