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1.
Deleterious, protein-altering variants in the transcriptional coregulator ZMYM3 in 27 individuals with a neurodevelopmental delay phenotype.
Am J Hum Genet
; 110(2): 215-227, 2023 02 02.
Artículo
en Inglés
| MEDLINE | ID: mdl-36586412
2.
NYC FITNESSGRAM: Population-Level Physical Fitness Surveillance for New York City Youth.
Am J Epidemiol
; 192(3): 334-341, 2023 02 24.
Artículo
en Inglés
| MEDLINE | ID: mdl-36446589
3.
LHX2 haploinsufficiency causes a variable neurodevelopmental disorder.
Genet Med
; 25(7): 100839, 2023 Jul.
Artículo
en Inglés
| MEDLINE | ID: mdl-37057675
4.
Improved Decision Making for Water Lead Testing in U.S. Child Care Facilities Using Machine-Learned Bayesian Networks.
Environ Sci Technol
; 57(46): 17959-17970, 2023 Nov 21.
Artículo
en Inglés
| MEDLINE | ID: mdl-36932953
5.
Diagnostic Utility of Genome-wide DNA Methylation Testing in Genetically Unsolved Individuals with Suspected Hereditary Conditions.
Am J Hum Genet
; 104(4): 685-700, 2019 04 04.
Artículo
en Inglés
| MEDLINE | ID: mdl-30929737
6.
Lead Levels in Tap Water at Licensed North Carolina Child Care Facilities, 2020-2021.
Am J Public Health
; 112(S7): S695-S705, 2022 09.
Artículo
en Inglés
| MEDLINE | ID: mdl-36179303
7.
The phenotypic spectrum of AMER1-related osteopathia striata with cranial sclerosis: The first Canadian cohort.
Am J Med Genet A
; 185(12): 3793-3803, 2021 12.
Artículo
en Inglés
| MEDLINE | ID: mdl-34414661
8.
Novel findings and expansion of phenotype in a mosaic RASopathy caused by somatic KRAS variants.
Am J Med Genet A
; 185(9): 2829-2845, 2021 09.
Artículo
en Inglés
| MEDLINE | ID: mdl-34056834
9.
Growth hormone deficiency in megalencephaly-capillary malformation syndrome: An association with activating mutations in PIK3CA.
Am J Med Genet A
; 182(1): 162-168, 2020 01.
Artículo
en Inglés
| MEDLINE | ID: mdl-31729162
10.
Exposure to Human-Associated Chemical Markers of Fecal Contamination and Self-Reported Illness among Swimmers at Recreational Beaches.
Environ Sci Technol
; 52(13): 7513-7523, 2018 07 03.
Artículo
en Inglés
| MEDLINE | ID: mdl-29901991
11.
A genome-wide interaction analysis of tricyclic/tetracyclic antidepressants and RR and QT intervals: a pharmacogenomics study from the Cohorts for Heart and Aging Research in Genomic Epidemiology (CHARGE) consortium.
J Med Genet
; 54(5): 313-323, 2017 05.
Artículo
en Inglés
| MEDLINE | ID: mdl-28039329
12.
Exposure to human-associated fecal indicators and self-reported illness among swimmers at recreational beaches: a cohort study.
Environ Health
; 16(1): 103, 2017 10 02.
Artículo
en Inglés
| MEDLINE | ID: mdl-28969670
13.
Biotinidase deficiency: Spectrum of molecular, enzymatic and clinical information from newborn screening Ontario, Canada (2007-2014).
Mol Genet Metab
; 116(3): 146-51, 2015 Nov.
Artículo
en Inglés
| MEDLINE | ID: mdl-26361991
14.
Case of multiple sulfatase deficiency and ocular albinism: a diagnostic odyssey.
Can J Neurol Sci
; 41(5): 626-31, 2014 Sep.
Artículo
en Inglés
| MEDLINE | ID: mdl-25373814
15.
Heterozygous loss-of-function SMC3 variants are associated with variable growth and developmental features.
HGG Adv
; 5(2): 100273, 2024 Apr 11.
Artículo
en Inglés
| MEDLINE | ID: mdl-38297832
16.
Heterozygous loss-of-function SMC3 variants are associated with variable and incompletely penetrant growth and developmental features.
medRxiv
; 2023 Sep 28.
Artículo
en Inglés
| MEDLINE | ID: mdl-37808847
17.
Pitfalls in Genetic Testing for Consanguineous Pediatric Populations.
Case Rep Genet
; 2022: 9393042, 2022.
Artículo
en Inglés
| MEDLINE | ID: mdl-35663206
18.
Gene therapy: perspectives from young adults with Leber's congenital amaurosis.
Eye (Lond)
; 36(11): 2088-2093, 2022 11.
Artículo
en Inglés
| MEDLINE | ID: mdl-34531550
19.
Context, importance, and process for creating a body mass index surveillance system to monitor childhood obesity within the New York City public school setting.
Prev Med Rep
; 26: 101704, 2022 Apr.
Artículo
en Inglés
| MEDLINE | ID: mdl-35141118
20.
The association between student body mass index and tests of flexibility assessed by the FITNESSGRAM®: New York City public school students, 2017-18.
PLoS One
; 16(12): e0262083, 2021.
Artículo
en Inglés
| MEDLINE | ID: mdl-34972179