Detalhe da pesquisa
1.
Beyond the exome: What's next in diagnostic testing for Mendelian conditions.
Am J Hum Genet
; 110(8): 1229-1248, 2023 08 03.
Artigo
Inglês
| MEDLINE | ID: mdl-37541186
2.
The Human Phenotype Ontology in 2024: phenotypes around the world.
Nucleic Acids Res
; 52(D1): D1333-D1346, 2024 Jan 05.
Artigo
Inglês
| MEDLINE | ID: mdl-37953324
3.
Lethal phenotypes in Mendelian disorders.
Genet Med
; 26(7): 101141, 2024 Apr 15.
Artigo
Inglês
| MEDLINE | ID: mdl-38629401
4.
Improving prenatal diagnosis through standards and aggregation.
Prenat Diagn
; 44(4): 454-464, 2024 Apr.
Artigo
Inglês
| MEDLINE | ID: mdl-38242839
5.
Prenatal phenotyping: A community effort to enhance the Human Phenotype Ontology.
Am J Med Genet C Semin Med Genet
; 190(2): 231-242, 2022 06.
Artigo
Inglês
| MEDLINE | ID: mdl-35872606
6.
Emergence of a Homo sapiens-specific gene family and chromosome 16p11.2 CNV susceptibility.
Nature
; 536(7615): 205-9, 2016 08 11.
Artigo
Inglês
| MEDLINE | ID: mdl-27487209
7.
High-Resolution and Noninvasive Fetal Exome Screening.
N Engl J Med
; 389(21): 2014-2016, 2023 Nov 23.
Artigo
Inglês
| MEDLINE | ID: mdl-37991862
8.
Maternal Modifiers and Parent-of-Origin Bias of the Autism-Associated 16p11.2 CNV.
Am J Hum Genet
; 98(1): 45-57, 2016 Jan 07.
Artigo
Inglês
| MEDLINE | ID: mdl-26749307
9.
Genome Sequencing of Autism-Affected Families Reveals Disruption of Putative Noncoding Regulatory DNA.
Am J Hum Genet
; 98(1): 58-74, 2016 Jan 07.
Artigo
Inglês
| MEDLINE | ID: mdl-26749308
10.
Genome sequencing identifies multiple deleterious variants in autism patients with more severe phenotypes.
Genet Med
; 21(7): 1611-1620, 2019 07.
Artigo
Inglês
| MEDLINE | ID: mdl-30504930
11.
A higher mutational burden in females supports a "female protective model" in neurodevelopmental disorders.
Am J Hum Genet
; 94(3): 415-25, 2014 Mar 06.
Artigo
Inglês
| MEDLINE | ID: mdl-24581740
12.
50 Years Ago in TheJournalofPediatrics: Billions of Genomes: Mosaicism in Turner Syndrome.
J Pediatr
; 243: 77, 2022 Apr.
Artigo
Inglês
| MEDLINE | ID: mdl-35341557
13.
50 Years Ago in TheJournalofPediatrics: Logic of Biochemical Discovery in Pompe Disease.
J Pediatr
; 238: 173, 2021 Nov.
Artigo
Inglês
| MEDLINE | ID: mdl-34702494
14.
Lethal phenotypes in Mendelian disorders.
medRxiv
; 2024 Jan 13.
Artigo
Inglês
| MEDLINE | ID: mdl-38260283
15.
Beyond the exome: what's next in diagnostic testing for Mendelian conditions.
ArXiv
; 2023 Jan 18.
Artigo
Inglês
| MEDLINE | ID: mdl-36713248
16.
Non-DNA-binding cofactors enhance DNA-binding specificity of a transcriptional regulatory complex.
Mol Syst Biol
; 7: 555, 2011 Dec 06.
Artigo
Inglês
| MEDLINE | ID: mdl-22146299
17.
Synthesis and evaluation of substrate analogue inhibitors of trypanothione reductase.
J Enzyme Inhib Med Chem
; 27(6): 784-94, 2012 Dec.
Artigo
Inglês
| MEDLINE | ID: mdl-22085139
18.
Evaluating heterogeneity in ASD symptomatology, cognitive ability, and adaptive functioning among 16p11.2 CNV carriers.
Autism Res
; 13(8): 1300-1310, 2020 08.
Artigo
Inglês
| MEDLINE | ID: mdl-32597026
19.
Longitudinal report of child with de novo 16p11.2 triplication.
Clin Case Rep
; 6(1): 147-154, 2018 01.
Artigo
Inglês
| MEDLINE | ID: mdl-29375855
20.
Severe, Recurrent Anemia in a 17-Year-Old Female.
Clin Pediatr (Phila)
; 61(9): 659-663, 2022 10.
Artigo
Inglês
| MEDLINE | ID: mdl-35678025