Detalhe da pesquisa
1.
Human autoinflammatory disease reveals ELF4 as a transcriptional regulator of inflammation.
Nat Immunol
; 22(9): 1118-1126, 2021 09.
Artigo
em Inglês
| MEDLINE | ID: mdl-34326534
2.
Apoptotic caspases prevent the induction of type I interferons by mitochondrial DNA.
Cell
; 159(7): 1563-77, 2014 Dec 18.
Artigo
em Inglês
| MEDLINE | ID: mdl-25525875
3.
AP2A2 mutation and defective endocytosis in a Malian family with hereditary spastic paraplegia.
Neurobiol Dis
; 198: 106537, 2024 Aug.
Artigo
em Inglês
| MEDLINE | ID: mdl-38772452
4.
"Deficiency in ELF4, X-Linked": a Monogenic Disease Entity Resembling Behçet's Syndrome and Inflammatory Bowel Disease.
J Clin Immunol
; 44(2): 44, 2024 Jan 17.
Artigo
em Inglês
| MEDLINE | ID: mdl-38231408
5.
Biallelic CRELD1 variants cause a multisystem syndrome, including neurodevelopmental phenotypes, cardiac dysrhythmias, and frequent infections.
Genet Med
; 26(2): 101023, 2024 Feb.
Artigo
em Inglês
| MEDLINE | ID: mdl-37947183
6.
Clinical and genetic investigation of 14 families with various forms of short stature syndromes.
Clin Genet
; 2024 May 22.
Artigo
em Inglês
| MEDLINE | ID: mdl-38774940
7.
Clinical and functional heterogeneity associated with the disruption of retinoic acid receptor beta.
Genet Med
; 25(8): 100856, 2023 08.
Artigo
em Inglês
| MEDLINE | ID: mdl-37092537
8.
Novel truncating mutations in CTNND1 cause a dominant craniofacial and cardiac syndrome.
Hum Mol Genet
; 29(11): 1900-1921, 2020 07 21.
Artigo
em Inglês
| MEDLINE | ID: mdl-32196547
9.
A retrospective cohort analysis of the Yale pediatric genomics discovery program.
Am J Med Genet A
; 188(10): 2869-2878, 2022 10.
Artigo
em Inglês
| MEDLINE | ID: mdl-35899841
10.
Examination of Early Endotracheal Aspirate Cultures in Children with Acute Respiratory Failure Due to Presumed Acute Respiratory Tract Infection.
S D Med
; 75(6): 268-272, 2022 Jun.
Artigo
em Inglês
| MEDLINE | ID: mdl-36206568
11.
Functional testing for variant prioritization in a family with long QT syndrome.
Mol Genet Genomics
; 296(4): 823-836, 2021 Jul.
Artigo
em Inglês
| MEDLINE | ID: mdl-33876311
12.
Expansion of NEUROD2 phenotypes to include developmental delay without seizures.
Am J Med Genet A
; 185(4): 1076-1080, 2021 04.
Artigo
em Inglês
| MEDLINE | ID: mdl-33438828
13.
The latest FADS: Functional analysis of GLDN patient variants and classification of GLDN-associated AMC as a type of viable fetal akinesia deformation sequence.
Am J Med Genet A
; 182(10): 2291-2296, 2020 10.
Artigo
em Inglês
| MEDLINE | ID: mdl-32812332
14.
DYNC1H1-related disorders: A description of four new unrelated patients and a comprehensive review of previously reported variants.
Am J Med Genet A
; 182(9): 2049-2057, 2020 09.
Artigo
em Inglês
| MEDLINE | ID: mdl-32656949
15.
Patients with common variable immunodeficiency with autoimmune cytopenias exhibit hyperplastic yet inefficient germinal center responses.
J Allergy Clin Immunol
; 143(1): 258-265, 2019 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-29935219
16.
Sequence variants in DLX5, HOXD13 and 445 kb-microduplication surrounding BTRC cause split-hand/foot malformation in three different families.
Clin Genet
; 105(1): 109-111, 2024 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-37776184
17.
A Novel Pathogenic UGT1A1 Variant in a Sudanese Child with Type 1 Crigler-Najjar Syndrome.
Drug Metab Dispos
; 47(1): 45-48, 2019 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-30385458
18.
Rethinking what constitutes a diagnosis in the genomics era: a critical illness perspective.
Curr Opin Pediatr
; 31(3): 317-321, 2019 06.
Artigo
em Inglês
| MEDLINE | ID: mdl-31090571
19.
Identification of novel mutations and phenotype in the steroid resistant nephrotic syndrome gene NUP93: a case report.
BMC Nephrol
; 20(1): 271, 2019 07 17.
Artigo
em Inglês
| MEDLINE | ID: mdl-31315584
20.
Altered mental status and vulvar ulcer in a 10-year-old girl.
J Paediatr Child Health
; 58(11): 2101-2103, 2022 11.
Artigo
em Inglês
| MEDLINE | ID: mdl-35769025