Detalhe da pesquisa
1.
Bi-allelic loss-of-function variants in PPFIBP1 cause a neurodevelopmental disorder with microcephaly, epilepsy, and periventricular calcifications.
Am J Hum Genet
; 109(8): 1421-1435, 2022 08 04.
Artigo
em Inglês
| MEDLINE | ID: mdl-35830857
2.
Congenital hydrocephalus: new Mendelian mutations and evidence for oligogenic inheritance.
Hum Genomics
; 17(1): 16, 2023 03 02.
Artigo
em Inglês
| MEDLINE | ID: mdl-36859317
3.
Clinical heterogeneity of NADSYN1-associated VCRL syndrome.
Clin Genet
; 104(1): 114-120, 2023 07.
Artigo
em Inglês
| MEDLINE | ID: mdl-36951206
4.
Low risk of embryonic and other cancers in PIK3CA-related overgrowth spectrum: Impact on screening recommendations.
Clin Genet
; 104(5): 554-563, 2023 11.
Artigo
em Inglês
| MEDLINE | ID: mdl-37580112
5.
Exome sequencing as a first-tier test for copy number variant detection: retrospective evaluation and prospective screening in 2418 cases.
J Med Genet
; 59(12): 1234-1240, 2022 12.
Artigo
em Inglês
| MEDLINE | ID: mdl-36137615
6.
Progressive Myoclonus Epilepsy Caused by a Homozygous Splicing Variant of SLC7A6OS.
Ann Neurol
; 89(2): 402-407, 2021 02.
Artigo
em Inglês
| MEDLINE | ID: mdl-33085104
7.
GGCX-related congenital combined vitamin K-dependent clotting factors deficiency-1: Description of a fetus with chondrodysplasia punctata.
Am J Med Genet A
; 188(1): 314-318, 2022 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-34558179
8.
Epileptic spasms are associated with increased stereo-electroencephalography derived functional connectivity in tuberous sclerosis complex.
Epilepsia
; 63(9): 2359-2370, 2022 09.
Artigo
em Inglês
| MEDLINE | ID: mdl-35775943
9.
Genotype-first in a cohort of 95 fetuses with multiple congenital abnormalities: when exome sequencing reveals unexpected fetal phenotype-genotype correlations.
J Med Genet
; 58(6): 400-413, 2021 06.
Artigo
em Inglês
| MEDLINE | ID: mdl-32732226
10.
X-linked partial corpus callosum agenesis with mild intellectual disability: identification of a novel L1CAM pathogenic variant.
Neurogenetics
; 22(1): 43-51, 2021 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-33415589
11.
WNT Signaling Perturbations Underlie the Genetic Heterogeneity of Robinow Syndrome.
Am J Hum Genet
; 102(1): 27-43, 2018 01 04.
Artigo
em Inglês
| MEDLINE | ID: mdl-29276006
12.
Clinical and neuroimaging findings in 33 patients with MCAP syndrome: A survey to evaluate relevant endpoints for future clinical trials.
Clin Genet
; 99(5): 650-661, 2021 05.
Artigo
em Inglês
| MEDLINE | ID: mdl-33415748
13.
Next-generation sequencing in a series of 80 fetuses with complex cardiac malformations and/or heterotaxy.
Hum Mutat
; 41(12): 2167-2178, 2020 12.
Artigo
em Inglês
| MEDLINE | ID: mdl-33131162
14.
Further delineation of the female phenotype with KDM5C disease causing variants: 19 new individuals and review of the literature.
Clin Genet
; 98(1): 43-55, 2020 07.
Artigo
em Inglês
| MEDLINE | ID: mdl-32279304
15.
Epileptogenicity in tuberous sclerosis complex: A stereoelectroencephalographic study.
Epilepsia
; 61(1): 81-95, 2020 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-31860139
16.
AICA-ribosiduria due to ATIC deficiency: Delineation of the phenotype with three novel cases, and long-term update on the first case.
J Inherit Metab Dis
; 43(6): 1254-1264, 2020 11.
Artigo
em Inglês
| MEDLINE | ID: mdl-32557644
17.
Identification of TSC1 or TSC2 mutation limited to the tumor in three cases of solitary subependymal giant cell astrocytoma using next-generation sequencing technology.
Childs Nerv Syst
; 36(5): 961-965, 2020 05.
Artigo
em Inglês
| MEDLINE | ID: mdl-32103336
18.
A novel de novo splicing mutation c.1444-2A>T in the TSC2 gene causes exon skipping and premature termination in a patient with tuberous sclerosis syndrome.
IUBMB Life
; 71(12): 1937-1945, 2019 12.
Artigo
em Inglês
| MEDLINE | ID: mdl-31317616
19.
Xq22.3q23 microdeletion harboring TMEM164 and AMMECR1 genes: Two case reports confirming a recognizable phenotype with short stature, midface hypoplasia, intellectual delay, and elliptocytosis.
Am J Med Genet A
; 179(4): 650-654, 2019 04.
Artigo
em Inglês
| MEDLINE | ID: mdl-30737907
20.
Renal angiomyolipoma in patients with tuberous sclerosis complex: findings from the TuberOus SClerosis registry to increase disease Awareness.
Nephrol Dial Transplant
; 34(3): 502-508, 2019 03 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-29697822