Detalhe da pesquisa
1.
Diagnostic work-up for severe aplastic anemia in children: Consensus of the North American Pediatric Aplastic Anemia Consortium.
Am J Hematol
; 96(11): 1491-1504, 2021 11 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-34342889
2.
Expansion of germline RPS20 mutation phenotype to include Diamond-Blackfan anemia.
Hum Mutat
; 41(11): 1918-1930, 2020 11.
Artigo
em Inglês
| MEDLINE | ID: mdl-32790018
3.
Haploinsufficiency of the Chromatin Remodeler BPTF Causes Syndromic Developmental and Speech Delay, Postnatal Microcephaly, and Dysmorphic Features.
Am J Hum Genet
; 101(4): 503-515, 2017 Oct 05.
Artigo
em Inglês
| MEDLINE | ID: mdl-28942966
4.
Secondary findings from clinical genomic sequencing: prevalence, patient perspectives, family history assessment, and health-care costs from a multisite study.
Genet Med
; 21(5): 1100-1110, 2019 05.
Artigo
em Inglês
| MEDLINE | ID: mdl-30287922
5.
Correction: Secondary findings from clinical genomic sequencing: prevalence, patient perspectives, family history assessment, and health-care costs from a multisite study.
Genet Med
; 21(5): 1261-1262, 2019 May.
Artigo
em Inglês
| MEDLINE | ID: mdl-30670880
6.
PSTPIP1-associated myeloid-related proteinemia inflammatory syndrome: A rare cause of childhood neutropenia associated with systemic inflammation and hyperzincemia.
Pediatr Blood Cancer
; 66(1): e27439, 2019 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-30198636
7.
Undergraduate Student Perceptions and Awareness of Genetic Counseling.
J Genet Couns
; 2018 Aug 19.
Artigo
em Inglês
| MEDLINE | ID: mdl-30121717
8.
Thrombopoietin Measurement as a Key Component in the Evaluation of Pediatric Thrombocytosis.
Pediatr Blood Cancer
; 63(8): 1484-7, 2016 08.
Artigo
em Inglês
| MEDLINE | ID: mdl-27100794
9.
Co-inheritance of mild hemophilia A and heterozygosity for type 2N von Willebrand disease: a diagnostic and therapeutic challenge.
Pediatr Blood Cancer
; 61(10): 1888-90, 2014 Oct.
Artigo
em Inglês
| MEDLINE | ID: mdl-24706524
10.
Germline genetic mutations in pediatric cerebrovascular anomalies: a multidisciplinary approach to screening, testing, and management.
J Neurosurg Pediatr
; 31(3): 212-220, 2023 03 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-36681951
11.
The genetics of vascular birthmarks.
Clin Dermatol
; 40(4): 313-321, 2022.
Artigo
em Inglês
| MEDLINE | ID: mdl-35181412
12.
Homozygous GDF2 nonsense mutations result in a loss of circulating BMP9 and BMP10 and are associated with either PAH or an "HHT-like" syndrome in children.
Mol Genet Genomic Med
; 9(12): e1685, 2021 12.
Artigo
em Inglês
| MEDLINE | ID: mdl-33834622
13.
First case of neutropenia and thrombocytopenia in the setting of cerebral cavernous malformation 3.
Int J Hematol
; 110(1): 95-101, 2019 Jul.
Artigo
em Inglês
| MEDLINE | ID: mdl-30904992
14.
Agents of empathy: How medical interpreters bridge sociocultural gaps in genomic sequencing disclosures with Spanish-speaking families.
Patient Educ Couns
; 102(5): 895-901, 2019 05.
Artigo
em Inglês
| MEDLINE | ID: mdl-30581014
15.
Exome sequencing disclosures in pediatric cancer care: Patterns of communication among oncologists, genetic counselors, and parents.
Patient Educ Couns
; 102(4): 680-686, 2019 04.
Artigo
em Inglês
| MEDLINE | ID: mdl-30482469
16.
Approaches to carrier testing and results disclosure in translational genomics research: The clinical sequencing exploratory research consortium experience.
Mol Genet Genomic Med
; 6(6): 898-909, 2018 11.
Artigo
em Inglês
| MEDLINE | ID: mdl-30133189
17.
Portero versus portador: Spanish interpretation of genomic terminology during whole exome sequencing results disclosure.
Per Med
; 14(6): 503-514, 2017 11.
Artigo
em Inglês
| MEDLINE | ID: mdl-29749861
18.
Mutations in signal recognition particle SRP54 cause syndromic neutropenia with Shwachman-Diamond-like features.
J Clin Invest
; 127(11): 4090-4103, 2017 Nov 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-28972538
19.
Integrated tumor and germline whole-exome sequencing identifies mutations in MAPK and PI3K pathway genes in an adolescent with rosette-forming glioneuronal tumor of the fourth ventricle.
Cold Spring Harb Mol Case Stud
; 2(5): a001057, 2016 Sep.
Artigo
em Inglês
| MEDLINE | ID: mdl-27626068
20.
Diagnostic Yield of Clinical Tumor and Germline Whole-Exome Sequencing for Children With Solid Tumors.
JAMA Oncol
; 2(5): 616-624, 2016 May 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-26822237