Detalhe da pesquisa
1.
De novo variants in FRYL are associated with developmental delay, intellectual disability, and dysmorphic features.
Am J Hum Genet
; 111(4): 742-760, 2024 Apr 04.
Artigo
em Inglês
| MEDLINE | ID: mdl-38479391
2.
Improving access to exome sequencing in a medically underserved population through the Texome Project.
Genet Med
; 26(6): 101102, 2024 Jun.
Artigo
em Inglês
| MEDLINE | ID: mdl-38431799
3.
Natural history of TANGO2 deficiency disorder: Baseline assessment of 73 patients.
Genet Med
; 25(4): 100352, 2023 04.
Artigo
em Inglês
| MEDLINE | ID: mdl-36473599
4.
Monitoring the treatment of urea cycle disorders using phenylbutyrate metabolite analyses: Still many lessons to learn.
Mol Genet Metab
; 140(3): 107699, 2023 11.
Artigo
em Inglês
| MEDLINE | ID: mdl-37717413
5.
An innovative medical school curriculum to enhance exposure to genetics and genomics: Updates and outcomes.
Genet Med
; 24(3): 722-728, 2022 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-34906481
6.
Advancements in therapeutics for inborn errors of metabolism.
Curr Opin Pediatr
; 34(6): 559-564, 2022 12 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-35993290
7.
Phenotypic expansion of the BPTF-related neurodevelopmental disorder with dysmorphic facies and distal limb anomalies.
Am J Med Genet A
; 185(5): 1366-1378, 2021 05.
Artigo
em Inglês
| MEDLINE | ID: mdl-33522091
8.
Integrated analysis of metabolomic profiling and exome data supplements sequence variant interpretation, classification, and diagnosis.
Genet Med
; 22(9): 1560-1566, 2020 09.
Artigo
em Inglês
| MEDLINE | ID: mdl-32439973
9.
Multiple mitochondrial dysfunctions syndrome 1: An unusual cause of developmental pulmonary hypertension.
Am J Med Genet A
; 182(4): 755-761, 2020 04.
Artigo
em Inglês
| MEDLINE | ID: mdl-31970900
10.
Sudden infant death with dysgenesis of the testes syndrome in a non-Amish infant: A case report.
Am J Med Genet A
; 182(11): 2751-2754, 2020 11.
Artigo
em Inglês
| MEDLINE | ID: mdl-32885560
11.
Review of the phenotypic spectrum associated with haploinsufficiency of MYRF.
Am J Med Genet A
; 179(7): 1376-1382, 2019 07.
Artigo
em Inglês
| MEDLINE | ID: mdl-31069960
12.
Disturbed phospholipid metabolism in serine biosynthesis defects revealed by metabolomic profiling.
Mol Genet Metab
; 123(3): 309-316, 2018 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-29269105
13.
KCNA1 gain-of-function epileptic encephalopathy treated with 4-aminopyridine.
Ann Clin Transl Neurol
; 10(4): 656-663, 2023 04.
Artigo
em Inglês
| MEDLINE | ID: mdl-36793218
14.
Untargeted Metabolomics of Slc13a5 Deficiency Reveal Critical Liver-Brain Axis for Lipid Homeostasis.
Metabolites
; 12(4)2022 Apr 14.
Artigo
em Inglês
| MEDLINE | ID: mdl-35448538
15.
Cardiac crises: Cardiac arrhythmias and cardiomyopathy during TANGO2 deficiency related metabolic crises.
Heart Rhythm
; 19(10): 1673-1681, 2022 10.
Artigo
em Inglês
| MEDLINE | ID: mdl-35568137
16.
Clinical Utility of Genetic Testing in the Precision Diagnosis and Management of Pediatric Patients with Kidney and Urinary Tract Diseases.
Kidney360
; 2(1): 90-104, 2021 01 28.
Artigo
em Inglês
| MEDLINE | ID: mdl-35368817
17.
Comparison of Untargeted Metabolomic Profiling vs Traditional Metabolic Screening to Identify Inborn Errors of Metabolism.
JAMA Netw Open
; 4(7): e2114155, 2021 07 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-34251446
18.
Untargeted Metabolomics for Autism Spectrum Disorders: Current Status and Future Directions.
Front Psychiatry
; 10: 647, 2019.
Artigo
em Inglês
| MEDLINE | ID: mdl-31551836
19.
Untargeted metabolomics identifies unique though benign biochemical changes in patients with pathogenic variants in UROC1.
Mol Genet Metab Rep
; 18: 14-18, 2019 Mar.
Artigo
em Inglês
| MEDLINE | ID: mdl-30619714
20.
A Somnolent Neonate With Hypothermia and Posturing.
Clin Pediatr (Phila)
; 59(8): 841-843, 2020 07.
Artigo
em Inglês
| MEDLINE | ID: mdl-32400174