Detalhe da pesquisa
1.
A supervised learning method for classifying methylation disorders.
BMC Bioinformatics
; 25(1): 66, 2024 Feb 12.
Artigo
em Inglês
| MEDLINE | ID: mdl-38347515
2.
The Importance of Mitochondrial Disease Testing in Young Adults With New Onset Sensorineural Hearing Loss.
Ear Hear
; 45(2): 517-521, 2024.
Artigo
em Inglês
| MEDLINE | ID: mdl-37930162
3.
εγ-Thalassemia, a New Hemoglobinopathy Category.
Clin Chem
; 69(7): 711-717, 2023 07 05.
Artigo
em Inglês
| MEDLINE | ID: mdl-37086467
4.
Confirmation of Insertion, Deletion, and Deletion-Insertion Variants Detected by Next-Generation Sequencing.
Clin Chem
; 69(10): 1155-1162, 2023 10 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-37566393
5.
Uniparental disomy of multiple chromosomes in two cases with a complex phenotype.
Am J Med Genet A
; 191(7): 1978-1983, 2023 07.
Artigo
em Inglês
| MEDLINE | ID: mdl-37134191
6.
RINT1 Bi-allelic Variations Cause Infantile-Onset Recurrent Acute Liver Failure and Skeletal Abnormalities.
Am J Hum Genet
; 105(1): 108-121, 2019 07 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-31204009
7.
Clinical characterization of primary hyperoxaluria type 3 in comparison with types 1 and 2.
Nephrol Dial Transplant
; 37(5): 869-875, 2022 04 25.
Artigo
em Inglês
| MEDLINE | ID: mdl-33543760
8.
WDR37 syndrome: identification of a distinct new cluster of disease-associated variants and functional analyses of mutant proteins.
Hum Genet
; 140(12): 1775-1789, 2021 Dec.
Artigo
em Inglês
| MEDLINE | ID: mdl-34642815
9.
Impact of integrated translational research on clinical exome sequencing.
Genet Med
; 23(3): 498-507, 2021 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-33144682
10.
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
11.
CSNK2B: A broad spectrum of neurodevelopmental disability and epilepsy severity.
Epilepsia
; 62(7): e103-e109, 2021 07.
Artigo
em Inglês
| MEDLINE | ID: mdl-34041744
12.
Integrating glycomics and genomics uncovers SLC10A7 as essential factor for bone mineralization by regulating post-Golgi protein transport and glycosylation.
Hum Mol Genet
; 27(17): 3029-3045, 2018 09 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-29878199
13.
Congenital ichthyosis in Prader-Willi syndrome associated with maternal chromosome 15 uniparental disomy: Case report and review of autosomal recessive conditions unmasked by UPD.
Am J Med Genet A
; 182(10): 2442-2449, 2020 10.
Artigo
em Inglês
| MEDLINE | ID: mdl-32815268
14.
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
15.
Expert specification of the ACMG/AMP variant interpretation guidelines for genetic hearing loss.
Hum Mutat
; 39(11): 1593-1613, 2018 11.
Artigo
em Inglês
| MEDLINE | ID: mdl-30311386
16.
Rapid and Direct Detection of Congenital Cytomegalovirus Using a Commercial Real-Time PCR Assay.
J Clin Microbiol
; 61(3): e0178122, 2023 03 23.
Artigo
em Inglês
| MEDLINE | ID: mdl-36786642
17.
Impact of integrated translational research on clinical exome sequencing.
Genet Med
; 25(2): 100359, 2023 Feb.
Artigo
em Inglês
| MEDLINE | ID: mdl-36745126
18.
Developmental delay and failure to thrive associated with a loss-of-function variant in WHSC1 (NSD2).
Am J Med Genet A
; 176(12): 2798-2802, 2018 12.
Artigo
em Inglês
| MEDLINE | ID: mdl-30345613
19.
Diagnostic Tools for Inborn Errors of Human Immunity (Primary Immunodeficiencies and Immune Dysregulatory Diseases).
Curr Allergy Asthma Rep
; 18(3): 19, 2018 02 22.
Artigo
em Inglês
| MEDLINE | ID: mdl-29470720
20.
Predicting Prognosis in CPEO With mtDNA Deletions: A Case Demonstrating the Advantages of Measuring Heteroplasmy With Novel Droplet Digital Polymerase Chain Reaction Testing.
J Neuroophthalmol
; 43(4): e260-e263, 2023 Dec 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-35483062