Detalhe da pesquisa
1.
Bi-allelic Mutations in NADSYN1 Cause Multiple Organ Defects and Expand the Genotypic Spectrum of Congenital NAD Deficiency Disorders.
Am J Hum Genet
; 106(1): 129-136, 2020 01 02.
Artigo
em Inglês
| MEDLINE | ID: mdl-31883644
2.
Evaluating use of changing technologies for rapid next-generation sequencing in pediatrics.
Pediatr Res
; 92(5): 1364-1369, 2022 11.
Artigo
em Inglês
| MEDLINE | ID: mdl-35115709
3.
WNT Signaling Perturbations Underlie the Genetic Heterogeneity of Robinow Syndrome.
Am J Hum Genet
; 102(1): 27-43, 2018 01 04.
Artigo
em Inglês
| MEDLINE | ID: mdl-29276006
4.
Expanding the phenotype of Wiedemann-Steiner syndrome: Craniovertebral junction anomalies.
Am J Med Genet A
; 182(12): 2877-2886, 2020 12.
Artigo
em Inglês
| MEDLINE | ID: mdl-33043602
5.
Detecting mosaic variants in patients with somatic overgrowth syndromes using cell-free circulating DNA and deep sequencing.
J Med Genet
; 57(11): 794-796, 2020 11.
Artigo
em Inglês
| MEDLINE | ID: mdl-31992579
6.
A novel RAD51 variant resulting in Fanconi anemia identified in an infant with multiple congenital anomalies.
Clin Case Rep
; 11(1): e6810, 2023 Jan.
Artigo
em Inglês
| MEDLINE | ID: mdl-36698515
7.
Parkes Weber syndrome associated with two somatic pathogenic variants in RASA1.
Cold Spring Harb Mol Case Stud
; 6(4)2020 08.
Artigo
em Inglês
| MEDLINE | ID: mdl-32843429
8.
New insights into DNA methylation signatures: SMARCA2 variants in Nicolaides-Baraitser syndrome.
BMC Med Genomics
; 12(1): 105, 2019 07 09.
Artigo
em Inglês
| MEDLINE | ID: mdl-31288860
9.
Non-Immune Hydrops, Hypotonia, Encephalopathy, and Liver Failure with Novel Compound Heterozygous AHCY Mutations.
Neonatology
; 114(4): 337-340, 2018.
Artigo
em Inglês
| MEDLINE | ID: mdl-30121674