Detalhe da pesquisa
1.
Systematic analysis of variants escaping nonsense-mediated decay uncovers candidate Mendelian diseases.
Am J Hum Genet
; 111(1): 70-81, 2024 Jan 04.
Artigo
em Inglês
| MEDLINE | ID: mdl-38091987
2.
Insufficient Evidence for "Autism-Specific" Genes.
Am J Hum Genet
; 106(5): 587-595, 2020 05 07.
Artigo
em Inglês
| MEDLINE | ID: mdl-32359473
3.
Consolidation of the clinical and genetic definition of a SOX4-related neurodevelopmental syndrome.
J Med Genet
; 59(11): 1058-1068, 2022 11.
Artigo
em Inglês
| MEDLINE | ID: mdl-35232796
4.
Factors Affecting Interfacility Transport Intervals in Stroke Patients Transferred for Endovascular Therapy.
Prehosp Emerg Care
; 27(5): 646-651, 2023.
Artigo
em Inglês
| MEDLINE | ID: mdl-35616919
5.
Association of Supernumerary Sex Chromosome Aneuploidies With Venous Thromboembolism.
JAMA
; 329(3): 235-243, 2023 01 17.
Artigo
em Inglês
| MEDLINE | ID: mdl-36648468
6.
Medical manifestations and health care utilization among adult MyCode participants with neurodevelopmental psychiatric copy number variants.
Genet Med
; 24(3): 703-711, 2022 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-34906480
7.
Frequency of truncating FLCN variants and Birt-Hogg-Dubé-associated phenotypes in a health care system population.
Genet Med
; 24(9): 1857-1866, 2022 09.
Artigo
em Inglês
| MEDLINE | ID: mdl-35639097
8.
Molecular Diagnostic Yield of Exome Sequencing in Patients With Cerebral Palsy.
JAMA
; 325(5): 467-475, 2021 02 02.
Artigo
em Inglês
| MEDLINE | ID: mdl-33528536
9.
Gestational Age, Perinatal Characteristics, and Autism Spectrum Disorder: A Birth Cohort Study.
J Pediatr
; 220: 175-183.e8, 2020 05.
Artigo
em Inglês
| MEDLINE | ID: mdl-32093932
10.
The value of genomic variant ClinVar submissions from clinical providers: Beyond the addition of novel variants.
Hum Mutat
; 39(11): 1660-1667, 2018 11.
Artigo
em Inglês
| MEDLINE | ID: mdl-30311381
11.
Response to Buxbaum et al.
Am J Hum Genet
; 107(5): 1004, 2020 11 05.
Artigo
em Inglês
| MEDLINE | ID: mdl-33157005
12.
Response to van Riel et al.
Genet Med
; 25(1): 161-163, 2023 Jan.
Artigo
em Inglês
| MEDLINE | ID: mdl-36609148
13.
Dimensional assessment of schizotypal, psychotic, and other psychiatric traits in children and their parents: development and validation of the Childhood Oxford-Liverpool Inventory of Feelings and Experiences on a representative US sample.
J Child Psychol Psychiatry
; 59(5): 574-585, 2018 05.
Artigo
em Inglês
| MEDLINE | ID: mdl-29083029
14.
Evaluation of QTc in Rett syndrome: Correlation with age, severity, and genotype.
Am J Med Genet A
; 173(6): 1495-1501, 2017 Jun.
Artigo
em Inglês
| MEDLINE | ID: mdl-28394409
15.
A Comparison of Structural Brain Imaging Findings in Autism Spectrum Disorder and Attention-Deficit Hyperactivity Disorder.
Neuropsychol Rev
; 26(1): 25-43, 2016 Mar.
Artigo
em Inglês
| MEDLINE | ID: mdl-26482248
16.
Birt-Hogg-Dubé symptoms in Smith-Magenis syndrome include pediatric-onset pneumothorax.
Am J Med Genet A
; 185(6): 1922-1924, 2021 06.
Artigo
em Inglês
| MEDLINE | ID: mdl-33666332
17.
Genetic testing and genetic counseling among Medicaid-enrolled children with autism spectrum disorder in 2001 and 2007.
Hum Genet
; 133(1): 111-6, 2014 Jan.
Artigo
em Inglês
| MEDLINE | ID: mdl-24036677
18.
Etiologic Evaluation of Children with Autism Spectrum Disorder.
Pediatr Clin North Am
; 71(2): 179-197, 2024 Apr.
Artigo
em Inglês
| MEDLINE | ID: mdl-38423715
19.
Risk of Autoimmune Disease in Research-Identified Cases of Autism Spectrum Disorder: A Longitudinal, Population-Based Birth Cohort Study.
J Dev Behav Pediatr
; 45(1): e46-e53, 2024 Jan 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-38364086
20.
Deletion 17q12 is a recurrent copy number variant that confers high risk of autism and schizophrenia.
Am J Hum Genet
; 87(5): 618-30, 2010 Nov 12.
Artigo
em Inglês
| MEDLINE | ID: mdl-21055719