Detalhe da pesquisa
1.
A reverse genetics and genomics approach to gene paralog function and disease: Myokymia and the juxtaparanode.
Am J Hum Genet
; 109(9): 1713-1723, 2022 09 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-35948005
2.
Semiautomated approach focused on new genomic information results in time and effort-efficient reannotation of negative exome data.
Hum Genet
; 143(5): 649-666, 2024 May.
Artigo
em Inglês
| MEDLINE | ID: mdl-38538918
3.
Belzutifan in adults with VHL-associated central nervous system hemangioblastoma: a single-center experience.
J Neurooncol
; 164(1): 239-247, 2023 Aug.
Artigo
em Inglês
| MEDLINE | ID: mdl-37450072
4.
UBA2 variants underlie a recognizable syndrome with variable aplasia cutis congenita and ectrodactyly.
Genet Med
; 23(9): 1624-1635, 2021 09.
Artigo
em Inglês
| MEDLINE | ID: mdl-34040189
5.
Impact of integrated translational research on clinical exome sequencing.
Genet Med
; 23(3): 498-507, 2021 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-33144682
6.
Nail-patella-like renal disease masquerading as Fabry disease on kidney biopsy: a case report.
BMC Nephrol
; 21(1): 341, 2020 08 13.
Artigo
em Inglês
| MEDLINE | ID: mdl-32791958
7.
De novo DDX3X missense variants in males appear viable and contribute to syndromic intellectual disability.
Am J Med Genet A
; 179(4): 570-578, 2019 04.
Artigo
em Inglês
| MEDLINE | ID: mdl-30734472
8.
Utility of DNA, RNA, Protein, and Functional Approaches to Solve Cryptic Immunodeficiencies.
J Clin Immunol
; 38(3): 307-319, 2018 04.
Artigo
em Inglês
| MEDLINE | ID: mdl-29671115
9.
Impact of integrated translational research on clinical exome sequencing.
Genet Med
; 25(2): 100359, 2023 Feb.
Artigo
em Inglês
| MEDLINE | ID: mdl-36745126
10.
Extension of the mutational and clinical spectrum of SOX2 related disorders: Description of six new cases and a novel association with suprasellar teratoma.
Am J Med Genet A
; 176(12): 2710-2719, 2018 12.
Artigo
em Inglês
| MEDLINE | ID: mdl-30450772
11.
Evidence for Brainstem Motor Nondecussation as a Neurologic Substrate for Periodic Alternating Gaze Deviation.
Ophthalmology
; 124(7): 1085-1087, 2017 07.
Artigo
em Inglês
| MEDLINE | ID: mdl-28461012
12.
Gain-of-function mutations in KCNK3 cause a developmental disorder with sleep apnea.
Nat Genet
; 54(10): 1534-1543, 2022 Oct.
Artigo
em Inglês
| MEDLINE | ID: mdl-36195757
13.
Identification of Genetic Causes of Focal Segmental Glomerulosclerosis Increases With Proper Patient Selection.
Mayo Clin Proc
; 96(9): 2342-2353, 2021 09.
Artigo
em Inglês
| MEDLINE | ID: mdl-34120753
14.
Genomics Integration Into Nephrology Practice.
Kidney Med
; 3(5): 785-798, 2021.
Artigo
em Inglês
| MEDLINE | ID: mdl-34746741
15.
Haploinsufficiency as a disease mechanism in GNB1-associated neurodevelopmental disorder.
Mol Genet Genomic Med
; 8(11): e1477, 2020 11.
Artigo
em Inglês
| MEDLINE | ID: mdl-32918542
16.
A second cohort of CHD3 patients expands the molecular mechanisms known to cause Snijders Blok-Campeau syndrome.
Eur J Hum Genet
; 28(10): 1422-1431, 2020 10.
Artigo
em Inglês
| MEDLINE | ID: mdl-32483341
17.
Adrenal Cortical Carcinoma Associated With Lynch Syndrome: A Case Report and Review of Literature.
J Endocr Soc
; 3(4): 784-790, 2019 Apr 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-30963136
18.
Cushing syndrome: uncovering Carney complex due to novel PRKAR1A mutation.
Endocrinol Diabetes Metab Case Rep
; 20192019 Mar 21.
Artigo
em Inglês
| MEDLINE | ID: mdl-30897549
19.
Shared and unique susceptibility genes in a mouse model of Graves' disease determined in BXH and CXB recombinant inbred mice.
Endocrinology
; 149(4): 2001-9, 2008 Apr.
Artigo
em Inglês
| MEDLINE | ID: mdl-18162518
20.
Phenotypic Variability of c.436delC DCAF17 Gene Mutation in Woodhouse-Sakati Syndrome.
Am J Case Rep
; 19: 347-353, 2018 Mar 25.
Artigo
em Inglês
| MEDLINE | ID: mdl-29574468