Detalhe da pesquisa
1.
Mutations in EBF3 Disturb Transcriptional Profiles and Cause Intellectual Disability, Ataxia, and Facial Dysmorphism.
Am J Hum Genet;
100(1): 117-127, 2017 Jan 05.
Artigo
em Inglês
| MEDLINE
| ID: mdl-28017373
2.
Genomic sequencing identifies secondary findings in a cohort of parent study participants.
Genet Med;
20(12): 1635-1643, 2018 12.
Artigo
em Inglês
| MEDLINE
| ID: mdl-29790872
3.
Clinical relevance of small copy-number variants in chromosomal microarray clinical testing.
Genet Med;
19(4): 377-385, 2017 04.
Artigo
em Inglês
| MEDLINE
| ID: mdl-27632688
4.
Eliciting preferences on secondary findings: the Preferences Instrument for Genomic Secondary Results.
Genet Med;
19(3): 337-344, 2017 03.
Artigo
em Inglês
| MEDLINE
| ID: mdl-27561086
5.
Recurrent ACADVL molecular findings in individuals with a positive newborn screen for very long chain acyl-coA dehydrogenase (VLCAD) deficiency in the United States.
Mol Genet Metab;
116(3): 139-45, 2015 Nov.
Artigo
em Inglês
| MEDLINE
| ID: mdl-26385305
6.
BMP4 loss-of-function mutations in developmental eye disorders including SHORT syndrome.
Hum Genet;
130(4): 495-504, 2011 Oct.
Artigo
em Inglês
| MEDLINE
| ID: mdl-21340693
7.
Clinically relevant single gene or intragenic deletions encompassing critical neurodevelopmental genes in patients with developmental delay, mental retardation, and/or autism spectrum disorders.
Am J Med Genet A;
155A(10): 2386-96, 2011 Oct.
Artigo
em Inglês
| MEDLINE
| ID: mdl-22031302
8.
The Therapeutic Odyssey: Positioning Genomic Sequencing in the Search for a Child's Best Possible Life.
AJOB Empir Bioeth;
12(3): 179-189, 2021.
Artigo
em Inglês
| MEDLINE
| ID: mdl-33843487
9.
Molecular cytogenetic characterization of two cases with constitutional distal 11q duplication/triplication.
Am J Med Genet A;
149A(7): 1516-22, 2009 Jul.
Artigo
em Inglês
| MEDLINE
| ID: mdl-19533774
10.
The use by Alabama pediatricians of genetics consultation in the evaluation of developmental delay.
Am J Med Genet A;
146A(4): 421-5, 2008 Feb 15.
Artigo
em Inglês
| MEDLINE
| ID: mdl-18203192
11.
The emerging role of primary care in genetics.
Curr Opin Pediatr;
20(6): 634-8, 2008 Dec.
Artigo
em Inglês
| MEDLINE
| ID: mdl-19005331
12.
A case report of chromosome 17q22-qter trisomy with distinct clinical presentation and review of the literature.
Clin Case Rep;
6(4): 612-616, 2018 04.
Artigo
em Inglês
| MEDLINE
| ID: mdl-29636925
13.
Genomic diagnosis for children with intellectual disability and/or developmental delay.
Genome Med;
9(1): 43, 2017 05 30.
Artigo
em Inglês
| MEDLINE
| ID: mdl-28554332
14.
Caring for adults with pediatric genetic diseases: a growing need.
Curr Opin Pediatr;
19(6): 611-2, 2007 Dec.
Artigo
em Inglês
| MEDLINE
| ID: mdl-18025925