Detalhe da pesquisa
1.
A genome sequencing system for universal newborn screening, diagnosis, and precision medicine for severe genetic diseases.
Am J Hum Genet
; 109(9): 1605-1619, 2022 09 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-36007526
2.
Retrospective identification of prenatal fetal anomalies associated with diagnostic neonatal genomic sequencing results.
Prenat Diagn
; 42(6): 705-716, 2022 05.
Artigo
em Inglês
| MEDLINE | ID: mdl-35141907
3.
Assessment of neuropsychological function in brain tumor treatment: a comparison of traditional neuropsychological assessment with app-based cognitive screening.
Acta Neurochir (Wien)
; 164(8): 2021-2034, 2022 08.
Artigo
em Inglês
| MEDLINE | ID: mdl-35230551
4.
Response to Grosse et al.
Am J Hum Genet
; 110(6): 1017, 2023 Jun 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-37267897
5.
Improving the efficacy of exome sequencing at a quaternary care referral centre: novel mutations, clinical presentations and diagnostic challenges in rare neurogenetic diseases.
J Neurol Neurosurg Psychiatry
; 92(11): 1186-1196, 2021 11.
Artigo
em Inglês
| MEDLINE | ID: mdl-34103343
6.
Intraoperative mapping of executive function using electrocorticography for patients with low-grade gliomas.
Acta Neurochir (Wien)
; 163(5): 1299-1309, 2021 05.
Artigo
em Inglês
| MEDLINE | ID: mdl-33222010
7.
Rapid Sequencing-Based Diagnosis of Thiamine Metabolism Dysfunction Syndrome.
N Engl J Med
; 384(22): 2159-2161, 2021 06 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-34077649
8.
Brain volume and neurobehavior in newborns with complex congenital heart defects.
J Pediatr
; 164(5): 1121-1127.e1, 2014 May.
Artigo
em Inglês
| MEDLINE | ID: mdl-24367983
9.
Rapid Whole Genome Sequencing for Diagnosis of Single Locus Genetic Diseases in Critically Ill Children.
Methods Mol Biol
; 2621: 217-239, 2023.
Artigo
em Inglês
| MEDLINE | ID: mdl-37041447
10.
Scalable, high quality, whole genome sequencing from archived, newborn, dried blood spots.
NPJ Genom Med
; 8(1): 5, 2023 Feb 14.
Artigo
em Inglês
| MEDLINE | ID: mdl-36788231
11.
Reclassification of the Etiology of Infant Mortality With Whole-Genome Sequencing.
JAMA Netw Open
; 6(2): e2254069, 2023 02 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-36757698
12.
Maternal, infant, and environmental risk factors for sudden unexpected infant deaths: results from a large, administrative cohort.
J Matern Fetal Neonatal Med
; 35(25): 8998-9005, 2022 Dec.
Artigo
em Inglês
| MEDLINE | ID: mdl-34852708
13.
Memory recovery in relation to default mode network impairment and neurite density during brain tumor treatment.
J Neurosurg
; 136(2): 358-368, 2022 Feb 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-34359041
14.
An automated 13.5 hour system for scalable diagnosis and acute management guidance for genetic diseases.
Nat Commun
; 13(1): 4057, 2022 07 26.
Artigo
em Inglês
| MEDLINE | ID: mdl-35882841
15.
Postmortem whole-genome sequencing on a dried blood spot identifies a novel homozygous SUOX variant causing isolated sulfite oxidase deficiency.
Cold Spring Harb Mol Case Stud
; 7(3)2021 06.
Artigo
em Inglês
| MEDLINE | ID: mdl-34117075
16.
Measurement of genetic diseases as a cause of mortality in infants receiving whole genome sequencing.
NPJ Genom Med
; 5: 49, 2020.
Artigo
em Inglês
| MEDLINE | ID: mdl-33154820
17.
Practical Application of Networks in Neurosurgery: Combined 3-Dimensional Printing, Neuronavigation, and Preoperative Surgical Planning.
World Neurosurg
; 137: e126-e137, 2020 05.
Artigo
em Inglês
| MEDLINE | ID: mdl-31958585
18.
Abnormal brain structure and function in newborns with complex congenital heart defects before open heart surgery: a review of the evidence.
J Child Neurol
; 26(6): 743-55, 2011 Jun.
Artigo
em Inglês
| MEDLINE | ID: mdl-21610172