Detalhe da pesquisa
1.
PIGN encephalopathy: Characterizing the epileptology.
Epilepsia
; 63(4): 974-991, 2022 04.
Artigo
em Inglês
| MEDLINE | ID: mdl-35179230
2.
ANK3 related neurodevelopmental disorders: expanding the spectrum of heterozygous loss-of-function variants.
Neurogenetics
; 22(4): 263-269, 2021 10.
Artigo
em Inglês
| MEDLINE | ID: mdl-34218362
3.
Activating Mutations in PAK1, Encoding p21-Activated Kinase 1, Cause a Neurodevelopmental Disorder.
Am J Hum Genet
; 103(4): 579-591, 2018 10 04.
Artigo
em Inglês
| MEDLINE | ID: mdl-30290153
4.
Recurrent, Activating Variants in the Receptor Tyrosine Kinase DDR2 Cause Warburg-Cinotti Syndrome.
Am J Hum Genet
; 103(6): 976-983, 2018 12 06.
Artigo
em Inglês
| MEDLINE | ID: mdl-30449416
5.
CDK19-related disorder results from both loss-of-function and gain-of-function de novo missense variants.
Genet Med
; 23(6): 1050-1057, 2021 06.
Artigo
em Inglês
| MEDLINE | ID: mdl-33495529
6.
Prevalence and clinical prediction of mitochondrial disorders in a large neuropediatric cohort.
Clin Genet
; 100(6): 766-770, 2021 12.
Artigo
em Inglês
| MEDLINE | ID: mdl-34490615
7.
Truncating mutations in SHANK3 associated with global developmental delay interfere with nuclear ß-catenin signaling.
J Neurochem
; 155(3): 250-263, 2020 11.
Artigo
em Inglês
| MEDLINE | ID: mdl-32202324
8.
Heterogeneous phenotypes in families with duplications of the paternal allele within the imprinting center 1 (H19/IGF2:TSS-DMR) in 11p15.5.
Clin Genet
; 98(4): 418-419, 2020 10.
Artigo
em Inglês
| MEDLINE | ID: mdl-33294970
9.
Biallelic variants in SMAD6 are associated with a complex cardiovascular phenotype.
Hum Genet
; 138(6): 625-634, 2019 Jun.
Artigo
em Inglês
| MEDLINE | ID: mdl-30963242
10.
Next-generation sequencing of 32 genes associated with hereditary aortopathies and related disorders of connective tissue in a cohort of 199 patients.
Genet Med
; 21(8): 1832-1841, 2019 08.
Artigo
em Inglês
| MEDLINE | ID: mdl-30675029
11.
Novel likely pathogenic variants in TMEM126A identified in non-syndromic autosomal recessive optic atrophy: two case reports.
BMC Med Genet
; 20(1): 62, 2019 04 08.
Artigo
em Inglês
| MEDLINE | ID: mdl-30961538
12.
16p13.11 microdeletion uncovers loss-of-function of a MYH11 missense variant in a patient with megacystis-microcolon-intestinal-hypoperistalsis syndrome.
Clin Genet
; 96(1): 85-90, 2019 07.
Artigo
em Inglês
| MEDLINE | ID: mdl-31044419
13.
Whole-genome sequencing in patients with ciliopathies uncovers a novel recurrent tandem duplication in IFT140.
Hum Mutat
; 39(7): 983-992, 2018 07.
Artigo
em Inglês
| MEDLINE | ID: mdl-29688594
14.
Fatty acid synthesis suppresses dietary polyunsaturated fatty acid use.
Nat Commun
; 15(1): 45, 2024 01 02.
Artigo
em Inglês
| MEDLINE | ID: mdl-38167725
15.
Options and limitations in applying the fistula classification by the International Study Group for Pancreatic Fistula.
Ann Surg
; 256(1): 130-8, 2012 Jul.
Artigo
em Inglês
| MEDLINE | ID: mdl-22504279
16.
The Epidemiology behind Pectus Excavatum: Clinical Study and Review of the Literature.
Eur J Pediatr Surg
; 32(4): 316-320, 2022 Aug.
Artigo
em Inglês
| MEDLINE | ID: mdl-34126636
17.
Severe congenital contractural arachnodactyly caused by biallelic pathogenic variants in FBN2.
Eur J Med Genet
; 64(3): 104161, 2021 Mar.
Artigo
em Inglês
| MEDLINE | ID: mdl-33571691
18.
Defining the Spectrum, Treatment and Outcome of Patients With Genetically Confirmed Gorlin Syndrome From the HIT-MED Cohort.
Front Oncol
; 11: 756025, 2021.
Artigo
em Inglês
| MEDLINE | ID: mdl-34888241
19.
Whole-Exome Sequencing in Critically Ill Neonates and Infants: Diagnostic Yield and Predictability of Monogenic Diagnosis.
Neonatology
; 118(4): 454-461, 2021.
Artigo
em Inglês
| MEDLINE | ID: mdl-34237744
20.
Pathogenic SPTBN1 variants cause an autosomal dominant neurodevelopmental syndrome.
Nat Genet
; 53(7): 1006-1021, 2021 07.
Artigo
em Inglês
| MEDLINE | ID: mdl-34211179