Detalhe da pesquisa
1.
De novo variants in FRYL are associated with developmental delay, intellectual disability, and dysmorphic features.
Am J Hum Genet
; 111(4): 742-760, 2024 Apr 04.
Artigo
em Inglês
| MEDLINE | ID: mdl-38479391
2.
Escape from X-inactivation in twins exhibits intra- and inter-individual variability across tissues and is heritable.
PLoS Genet
; 19(2): e1010556, 2023 02.
Artigo
em Inglês
| MEDLINE | ID: mdl-36802379
3.
An HNRNPK-specific DNA methylation signature makes sense of missense variants and expands the phenotypic spectrum of Au-Kline syndrome.
Am J Hum Genet
; 109(10): 1867-1884, 2022 10 06.
Artigo
em Inglês
| MEDLINE | ID: mdl-36130591
4.
Epilepsy in cardiofaciocutaneous syndrome: Clinical burden and response to anti-seizure medication.
Am J Med Genet A
; 194(2): 301-310, 2024 Feb.
Artigo
em Inglês
| MEDLINE | ID: mdl-37827855
5.
Sengers syndrome and AGK-related disorders - Minireview of phenotypic variability and clinical outcomes in molecularly confirmed cases.
Mol Genet Metab
; 139(3): 107626, 2023 07.
Artigo
em Inglês
| MEDLINE | ID: mdl-37354892
6.
Using exterior housing conditions to predict elevated pediatric blood lead levels.
Environ Res
; 218: 114944, 2023 02 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-36473524
7.
Tears in My Snorkel Mask: An Artist's Love Affair with Nature's Hot Mess.
Nonlinear Dynamics Psychol Life Sci
; 27(1): 87-103, 2023 Jan.
Artigo
em Inglês
| MEDLINE | ID: mdl-36522300
8.
Social Workers Critical to Honoring Commitments to Residents and Families in Long-Term Care.
J Gerontol Soc Work
; 66(6): 811-821, 2023.
Artigo
em Inglês
| MEDLINE | ID: mdl-36809984
9.
Infantile epileptic spasms syndrome in children with cardiofaciocutanous syndrome: Clinical presentation and associations with genotype.
Am J Med Genet C Semin Med Genet
; 190(4): 501-509, 2022 12.
Artigo
em Inglês
| MEDLINE | ID: mdl-36448195
10.
Genome-wide assessment of genetic risk for systemic lupus erythematosus and disease severity.
Hum Mol Genet
; 29(10): 1745-1756, 2020 06 27.
Artigo
em Inglês
| MEDLINE | ID: mdl-32077931
11.
ACE2 expression in adipose tissue is associated with cardio-metabolic risk factors and cell type composition-implications for COVID-19.
Int J Obes (Lond)
; 46(8): 1478-1486, 2022 08.
Artigo
em Inglês
| MEDLINE | ID: mdl-35589964
12.
Neurologic and neurodevelopmental complications in cardiofaciocutaneous syndrome are associated with genotype: A multinational cohort study.
Genet Med
; 24(7): 1556-1566, 2022 07.
Artigo
em Inglês
| MEDLINE | ID: mdl-35524774
13.
The seventh international RASopathies symposium: Pathways to a cure-expanding knowledge, enhancing research, and therapeutic discovery.
Am J Med Genet A
; 188(6): 1915-1927, 2022 06.
Artigo
em Inglês
| MEDLINE | ID: mdl-35266292
14.
Abnormal Right-Hemispheric Sulcal Patterns Correlate with Executive Function in Adolescents with Tetralogy of Fallot.
Cereb Cortex
; 31(10): 4670-4680, 2021 08 26.
Artigo
em Inglês
| MEDLINE | ID: mdl-34009260
15.
Hypertrophic Cardiomyopathy in RASopathies: Diagnosis, Clinical Characteristics, Prognostic Implications, and Management.
Heart Fail Clin
; 18(1): 19-29, 2022 Jan.
Artigo
em Inglês
| MEDLINE | ID: mdl-34776080
16.
Older Adults under Guardianship: Challenges and Recommendations for Improving Practice.
J Aging Soc Policy
; 34(3): 401-417, 2022 May 04.
Artigo
em Inglês
| MEDLINE | ID: mdl-33971805
17.
Missense Mutations of the Pro65 Residue of PCGF2 Cause a Recognizable Syndrome Associated with Craniofacial, Neurological, Cardiovascular, and Skeletal Features.
Am J Hum Genet
; 103(5): 786-793, 2018 11 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-30343942
18.
Rare variants in KDR, encoding VEGF Receptor 2, are associated with tetralogy of Fallot.
Genet Med
; 23(10): 1952-1960, 2021 10.
Artigo
em Inglês
| MEDLINE | ID: mdl-34113005
19.
Abnormal Left-Hemispheric Sulcal Patterns Correlate with Neurodevelopmental Outcomes in Subjects with Single Ventricular Congenital Heart Disease.
Cereb Cortex
; 30(2): 476-487, 2020 03 21.
Artigo
em Inglês
| MEDLINE | ID: mdl-31216004
20.
Probable delirium is a presenting symptom of COVID-19 in frail, older adults: a cohort study of 322 hospitalised and 535 community-based older adults.
Age Ageing
; 50(1): 40-48, 2021 01 08.
Artigo
em Inglês
| MEDLINE | ID: mdl-32986799