Detalhe da pesquisa
1.
Whole-exome sequencing reveals a monogenic cause in 56% of individuals with laterality disorders and associated congenital heart defects.
J Med Genet
; 59(7): 691-696, 2022 07.
Artigo
em Inglês
| MEDLINE | ID: mdl-34215651
2.
A multidisciplinary nephrogenetic referral clinic for children and adults-diagnostic achievements and insights.
Pediatr Nephrol
; 37(7): 1623-1646, 2022 07.
Artigo
em Inglês
| MEDLINE | ID: mdl-34993602
3.
Study of mitotic chromatin supports a model of bookmarking by histone modifications and reveals nucleosome deposition patterns.
Genome Res
; 28(10): 1455-1466, 2018 10.
Artigo
em Inglês
| MEDLINE | ID: mdl-30166406
4.
Chronic demodicosis in patients with immune dysregulation: An unexpected infectious manifestation of Signal transducer and activator of transcription (STAT)1 gain-of-function.
Clin Exp Immunol
; 206(1): 56-67, 2021 10.
Artigo
em Inglês
| MEDLINE | ID: mdl-34114647
5.
Deep intronic variant in the ARSB gene as the genetic cause for Maroteaux-Lamy syndrome (MPS VI).
Am J Med Genet A
; 185(12): 3804-3809, 2021 12.
Artigo
em Inglês
| MEDLINE | ID: mdl-34435740
6.
Neonatal osteoma cutis due to a mutation in GNAS.
Pediatr Dermatol
; 36(5): 732-734, 2019 Sep.
Artigo
em Inglês
| MEDLINE | ID: mdl-31215057
7.
Refining the Phenotypic Spectrum of KMT5B-Associated Developmental Delay.
Front Pediatr
; 10: 844845, 2022.
Artigo
em Inglês
| MEDLINE | ID: mdl-35433545
8.
Inherited SLP76 deficiency in humans causes severe combined immunodeficiency, neutrophil and platelet defects.
J Exp Med
; 218(3)2021 03 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-33231617
9.
A single center experience with publicly funded clinical exome sequencing for neurodevelopmental disorders or multiple congenital anomalies.
Sci Rep
; 11(1): 19099, 2021 09 27.
Artigo
em Inglês
| MEDLINE | ID: mdl-34580403
10.
Impaired complex I repair causes recessive Leber's hereditary optic neuropathy.
J Clin Invest
; 131(6)2021 03 15.
Artigo
em Inglês
| MEDLINE | ID: mdl-33465056
11.
Four patients with D-bifunctional protein (DBP) deficiency: Expanding the phenotypic spectrum of a highly variable disease.
Mol Genet Metab Rep
; 25: 100631, 2020 Dec.
Artigo
em Inglês
| MEDLINE | ID: mdl-32904102
12.
Monogenic Inflammatory Bowel Disease: It's Never Too Late to Make a Diagnosis.
Front Immunol
; 11: 1775, 2020.
Artigo
em Inglês
| MEDLINE | ID: mdl-33013830
13.
Biases in the SMART-DNA library preparation method associated with genomic poly dA/dT sequences.
PLoS One
; 12(2): e0172769, 2017.
Artigo
em Inglês
| MEDLINE | ID: mdl-28235101