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.
Rare variants in ANO1, encoding a calcium-activated chloride channel, predispose to moyamoya disease.
Brain
; 146(9): 3616-3623, 2023 09 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-37253099
4.
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
5.
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
6.
Impact of integrated translational research on clinical exome sequencing.
Genet Med
; 23(3): 498-507, 2021 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-33144682
7.
Mutations in the V-ATPase Assembly Factor VMA21 Cause a Congenital Disorder of Glycosylation With Autophagic Liver Disease.
Hepatology
; 72(6): 1968-1986, 2020 12.
Artigo
em Inglês
| MEDLINE | ID: mdl-32145091
8.
Further delineation of the phenotypic spectrum associated with hemizygous loss-of-function variants in NONO.
Am J Med Genet A
; 182(4): 652-658, 2020 04.
Artigo
em Inglês
| MEDLINE | ID: mdl-31883306
9.
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
10.
Exome sequencing confirms diagnosis of kabuki syndrome in an-adult with hodgkin lymphoma and unusually severe multisystem phenotype.
Clin Immunol
; 207: 55-57, 2019 10.
Artigo
em Inglês
| MEDLINE | ID: mdl-30282051
11.
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
12.
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
13.
Impact of integrated translational research on clinical exome sequencing.
Genet Med
; 25(2): 100359, 2023 Feb.
Artigo
em Inglês
| MEDLINE | ID: mdl-36745126
14.
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
15.
Gastrointestinal Findings in the Largest Series of Patients With Hereditary Biallelic Mismatch Repair Deficiency Syndrome: Report from the International Consortium.
Am J Gastroenterol
; 111(2): 275-84, 2016 Feb.
Artigo
em Inglês
| MEDLINE | ID: mdl-26729549
16.
PMS2 monoallelic mutation carriers: the known unknown.
Genet Med
; 18(1): 13-9, 2016 Jan.
Artigo
em Inglês
| MEDLINE | ID: mdl-25856668
17.
Appreciating the broad clinical features of SMAD4 mutation carriers: a multicenter chart review.
Genet Med
; 16(8): 588-93, 2014 Aug.
Artigo
em Inglês
| MEDLINE | ID: mdl-24525918
18.
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
19.
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
20.
The low excretor phenotype of glutaric acidemia type I is a source of false negative newborn screening results and challenging diagnoses.
JIMD Rep
; 60(1): 67-74, 2021 Jul.
Artigo
em Inglês
| MEDLINE | ID: mdl-34258142