Detalhe da pesquisa
1.
Urea Cycle Dysregulation Generates Clinically Relevant Genomic and Biochemical Signatures.
Cell
; 174(6): 1559-1570.e22, 2018 09 06.
Artigo
em Inglês
| MEDLINE | ID: mdl-30100185
2.
Variant STAT4 and Response to Ruxolitinib in an Autoinflammatory Syndrome.
N Engl J Med
; 388(24): 2241-2252, 2023 Jun 15.
Artigo
em Inglês
| MEDLINE | ID: mdl-37256972
3.
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
4.
Project Baby Bear: Rapid precision care incorporating rWGS in 5 California children's hospitals demonstrates improved clinical outcomes and reduced costs of care.
Am J Hum Genet
; 108(7): 1231-1238, 2021 07 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-34089648
5.
A Prospective Study of Parental Perceptions of Rapid Whole-Genome and -Exome Sequencing among Seriously Ill Infants.
Am J Hum Genet
; 107(5): 953-962, 2020 11 05.
Artigo
em Inglês
| MEDLINE | ID: mdl-33157008
6.
An RCT of Rapid Genomic Sequencing among Seriously Ill Infants Results in High Clinical Utility, Changes in Management, and Low Perceived Harm.
Am J Hum Genet
; 107(5): 942-952, 2020 11 05.
Artigo
em Inglês
| MEDLINE | ID: mdl-33157007
7.
Novel Approach to Improve the Identification of the Bleeding Phenotype in Noonan Syndrome and Related RASopathies.
J Pediatr
; 257: 113323, 2023 06.
Artigo
em Inglês
| MEDLINE | ID: mdl-36646249
8.
Neuropsychiatric Function Improvement in Pediatric Patients with Phenylketonuria.
J Pediatr
; 260: 113526, 2023 09.
Artigo
em Inglês
| MEDLINE | ID: mdl-37263523
9.
Insights into the perinatal phenotype of Kabuki syndrome in infants identified by genome-wide sequencing.
Am J Med Genet A
; 191(4): 930-940, 2023 04.
Artigo
em Inglês
| MEDLINE | ID: mdl-36651673
10.
Better and faster is cheaper.
Hum Mutat
; 43(11): 1495-1506, 2022 11.
Artigo
em Inglês
| MEDLINE | ID: mdl-35723630
11.
Expanding the phenotypic and molecular spectrum of NFS1-related disorders that cause functional deficiencies in mitochondrial and cytosolic iron-sulfur cluster containing enzymes.
Hum Mutat
; 43(3): 305-315, 2022 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-35026043
12.
A Randomized, Controlled Trial of the Analytic and Diagnostic Performance of Singleton and Trio, Rapid Genome and Exome Sequencing in Ill Infants.
Am J Hum Genet
; 105(4): 719-733, 2019 10 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-31564432
13.
Improved attention linked to sustained phenylalanine reduction in adults with early-treated phenylketonuria.
Am J Med Genet A
; 188(3): 768-778, 2022 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-34826353
14.
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
15.
Implementation-effectiveness trial of systematic family health history based risk assessment and impact on clinical disease prevention and surveillance activities.
BMC Health Serv Res
; 22(1): 1486, 2022 Dec 06.
Artigo
em Inglês
| MEDLINE | ID: mdl-36474257
16.
An online compendium of treatable genetic disorders.
Am J Med Genet C Semin Med Genet
; 187(1): 48-54, 2021 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-33350578
17.
Response to Grosse et al.
Am J Hum Genet
; 110(6): 1017, 2023 Jun 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-37267897
18.
Abnormal SCID Newborn Screening and Spontaneous Recovery Associated with a Novel Haploinsufficiency IKZF1 Mutation.
J Clin Immunol
; 41(6): 1241-1249, 2021 08.
Artigo
em Inglês
| MEDLINE | ID: mdl-33855675
19.
Quantitative analysis of the natural history of prolidase deficiency: description of 17 families and systematic review of published cases.
Genet Med
; 23(9): 1604-1615, 2021 09.
Artigo
em Inglês
| MEDLINE | ID: mdl-34040193
20.
Implementing Rapid Whole-Genome Sequencing in Critical Care: A Qualitative Study of Facilitators and Barriers to New Technology Adoption.
J Pediatr
; 237: 237-243.e2, 2021 10.
Artigo
em Inglês
| MEDLINE | ID: mdl-34023348