Detalhe da pesquisa
1.
Recurrent de novo missense variants across multiple histone H4 genes underlie a neurodevelopmental syndrome.
Am J Hum Genet
; 109(4): 750-758, 2022 04 07.
Artigo
em Inglês
| MEDLINE | ID: mdl-35202563
2.
A genome sequencing system for universal newborn screening, diagnosis, and precision medicine for severe genetic diseases.
Am J Hum Genet
; 109(9): 1605-1619, 2022 09 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-36007526
3.
Evaluating participant engagement in a preconception cohort study in relation to the Dobbs decision.
Paediatr Perinat Epidemiol
; 2024 Apr 26.
Artigo
em Inglês
| MEDLINE | ID: mdl-38666636
4.
Roadway construction as a natural experiment to examine air pollution impacts on infant health.
Environ Res
; 252(Pt 2): 118788, 2024 Jul 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-38555097
5.
Ambient air pollution and rate of spontaneous abortion.
Environ Res
; 246: 118067, 2024 Apr 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-38157969
6.
Monoallelic and biallelic mutations in RELN underlie a graded series of neurodevelopmental disorders.
Brain
; 145(9): 3274-3287, 2022 09 14.
Artigo
em Inglês
| MEDLINE | ID: mdl-35769015
7.
A Prospective Cohort Study of COVID-19 Vaccination, SARS-CoV-2 Infection, and Fertility.
Am J Epidemiol
; 191(8): 1383-1395, 2022 07 23.
Artigo
em Inglês
| MEDLINE | ID: mdl-35051292
8.
Air pollution and fecundability: Results from a Danish preconception cohort study.
Paediatr Perinat Epidemiol
; 36(1): 57-67, 2022 Jan.
Artigo
em Inglês
| MEDLINE | ID: mdl-34890081
9.
Response to Grosse et al.
Am J Hum Genet
; 110(6): 1017, 2023 Jun 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-37267897
10.
Deficiencies in vesicular transport mediated by TRAPPC4 are associated with severe syndromic intellectual disability.
Brain
; 143(1): 112-130, 2020 01 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-31794024
11.
Acute myocardial infarction associated with unconventional natural gas development: A natural experiment.
Environ Res
; 195: 110872, 2021 04.
Artigo
em Inglês
| MEDLINE | ID: mdl-33581094
12.
Healthy pregnancies and essential fats: focus group discussions with Zambian women on dietary need and acceptability of a novel RUSF containing fish oil DHA.
BMC Pregnancy Childbirth
; 20(1): 93, 2020 Feb 10.
Artigo
em Inglês
| MEDLINE | ID: mdl-32041569
13.
Genetic testing costs and compliance with clinical best practices.
J Genet Couns
; 29(6): 1186-1191, 2020 12.
Artigo
em Inglês
| MEDLINE | ID: mdl-32356909
14.
Responding to Reviewers and Editors About Statistical Significance Testing.
Ann Intern Med
; 177(3): 385-386, 2024 Mar.
Artigo
em Inglês
| MEDLINE | ID: mdl-38373303
15.
De novo nonsense mutations in KAT6A, a lysine acetyl-transferase gene, cause a syndrome including microcephaly and global developmental delay.
Am J Hum Genet
; 96(3): 498-506, 2015 Mar 05.
Artigo
em Inglês
| MEDLINE | ID: mdl-25728775
16.
Fossil Fuel Racism: The Ongoing Burden of Oil and Gas Development in the Shadows of Regulatory Inaction.
Am J Public Health
; 113(11): 1176-1178, 2023 Nov.
Artigo
em Inglês
| MEDLINE | ID: mdl-37651657
17.
Unconventional natural gas development and pediatric asthma hospitalizations in Pennsylvania.
Environ Res
; 166: 402-408, 2018 10.
Artigo
em Inglês
| MEDLINE | ID: mdl-29936288
18.
Case Series: Intrathecal Baclofen Therapy in Stiff-Person Syndrome.
Neuromodulation
; 21(7): 655-659, 2018 Oct.
Artigo
em Inglês
| MEDLINE | ID: mdl-29532593
19.
Neurosarcoidosis Flare with Multifocal Restricted Diffusion: Stroke, Inflammation, or Both?
J Stroke Cerebrovasc Dis
; 27(10): e230-e232, 2018 Oct.
Artigo
em Inglês
| MEDLINE | ID: mdl-30055999
20.
Reversible cerebral vasoconstriction syndrome associated with interferon beta-1a use for multiple sclerosis.
Mult Scler
; 22(12): 1626-1628, 2016 10.
Artigo
em Inglês
| MEDLINE | ID: mdl-27012659