Search details
1.
Whole-Genome Sequencing of a Healthy Aging Cohort.
Cell
; 165(4): 1002-11, 2016 May 05.
Article
in English
| MEDLINE | ID: mdl-27114037
2.
Genomic and molecular characterization of preterm birth.
Proc Natl Acad Sci U S A
; 116(12): 5819-5827, 2019 03 19.
Article
in English
| MEDLINE | ID: mdl-30833390
3.
Mother-child histocompatibility and risk of rheumatoid arthritis and systemic lupus erythematosus among mothers.
Genes Immun
; 21(1): 27-36, 2020 01.
Article
in English
| MEDLINE | ID: mdl-30635658
4.
Gram-negative Microbiota Blooms in Premature Twins Discordant for Parenteral Nutrition-associated Cholestasis.
J Pediatr Gastroenterol Nutr
; 70(5): 640-644, 2020 05.
Article
in English
| MEDLINE | ID: mdl-31939866
5.
Studying the urine microbiome in superficial bladder cancer: samples obtained by midstream voiding versus cystoscopy.
BMC Urol
; 20(1): 5, 2020 Jan 28.
Article
in English
| MEDLINE | ID: mdl-31992287
6.
Clinical and social factors associated with excess weight in Hispanic and non-Hispanic White children.
Pediatr Res
; 85(3): 256-261, 2019 02.
Article
in English
| MEDLINE | ID: mdl-30643189
7.
EPG5 Variants with Modest Functional Impact Result in an Ameliorated and Primarily Neurological Phenotype in a 3.5-Year-Old Patient with Vici Syndrome.
Neuropediatrics
; 50(4): 257-261, 2019 08.
Article
in English
| MEDLINE | ID: mdl-31226715
8.
Common genetic causes of holoprosencephaly are limited to a small set of evolutionarily conserved driver genes of midline development coordinated by TGF-ß, hedgehog, and FGF signaling.
Hum Mutat
; 39(10): 1416-1427, 2018 10.
Article
in English
| MEDLINE | ID: mdl-29992659
9.
A novel inborn error of the coenzyme Q10 biosynthesis pathway: cerebellar ataxia and static encephalomyopathy due to COQ5 C-methyltransferase deficiency.
Hum Mutat
; 39(1): 69-79, 2018 01.
Article
in English
| MEDLINE | ID: mdl-29044765
10.
Mutations in NOTCH1 cause Adams-Oliver syndrome.
Am J Hum Genet
; 95(3): 275-84, 2014 Sep 04.
Article
in English
| MEDLINE | ID: mdl-25132448
11.
Increased risk of rheumatoid arthritis among mothers with children who carry DRB1 risk-associated alleles.
Ann Rheum Dis
; 76(8): 1405-1410, 2017 Aug.
Article
in English
| MEDLINE | ID: mdl-28391248
12.
Utilization of genomic sequencing for population screening of immunodeficiencies in the newborn.
Genet Med
; 19(12): 1367-1375, 2017 12.
Article
in English
| MEDLINE | ID: mdl-28617419
13.
The Smad7-Skp2 complex orchestrates Myc stability, impacting on the cytostatic effect of TGF-ß.
J Cell Sci
; 127(Pt 2): 411-21, 2014 Jan 15.
Article
in English
| MEDLINE | ID: mdl-24259667
14.
Utility of whole-genome sequencing for detection of newborn screening disorders in a population cohort of 1,696 neonates.
Genet Med
; 18(3): 221-30, 2016 Mar.
Article
in English
| MEDLINE | ID: mdl-26334177
15.
A Child's HLA-DRB1 genotype increases maternal risk of systemic lupus erythematosus.
J Autoimmun
; 74: 201-207, 2016 11.
Article
in English
| MEDLINE | ID: mdl-27388144
16.
Mutations in human homologue of chicken talpid3 gene (KIAA0586) cause a hybrid ciliopathy with overlapping features of Jeune and Joubert syndromes.
J Med Genet
; 52(12): 830-9, 2015 Dec.
Article
in English
| MEDLINE | ID: mdl-26386044
17.
Expanding the phenotypic spectrum in EP300-related Rubinstein-Taybi syndrome.
Am J Med Genet A
; 167A(5): 1111-6, 2015 May.
Article
in English
| MEDLINE | ID: mdl-25712426
18.
Epidemiological and microbiome associations of Clostridioides difficile carriage in infancy and early childhood.
Gut Microbes
; 15(1): 2203969, 2023.
Article
in English
| MEDLINE | ID: mdl-37096914
19.
Aberrant splicing induced by the most common EPG5 mutation in an individual with Vici syndrome.
Brain
; 139(Pt 9): e52, 2016 09.
Article
in English
| MEDLINE | ID: mdl-27343256
20.
Complex display of putative tumor stem cell markers in the NCI60 tumor cell line panel.
Stem Cells
; 28(4): 649-60, 2010 Apr.
Article
in English
| MEDLINE | ID: mdl-20178109