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1.
A scalable approach to characterize pleiotropy across thousands of human diseases and complex traits using GWAS summary statistics.
Am J Hum Genet
; 110(11): 1863-1874, 2023 11 02.
Artículo
en Inglés
| MEDLINE | ID: mdl-37879338
2.
DISP1 deficiency: Monoallelic and biallelic variants cause a spectrum of midline craniofacial malformations.
Genet Med
; 26(7): 101126, 2024 Mar 24.
Artículo
en Inglés
| MEDLINE | ID: mdl-38529886
3.
Synonymous variants in holoprosencephaly alter codon usage and impact the Sonic Hedgehog protein.
Brain
; 143(7): 2027-2038, 2020 07 01.
Artículo
en Inglés
| MEDLINE | ID: mdl-32542401
4.
Integrated clinical and omics approach to rare diseases: novel genes and oligogenic inheritance in holoprosencephaly.
Brain
; 142(1): 35-49, 2019 01 01.
Artículo
en Inglés
| MEDLINE | ID: mdl-30508070
5.
Recent advances in understanding inheritance of holoprosencephaly.
Am J Med Genet C Semin Med Genet
; 178(2): 258-269, 2018 06.
Artículo
en Inglés
| MEDLINE | ID: mdl-29785796
6.
Improved multi-ancestry fine-mapping identifies cis-regulatory variants underlying molecular traits and disease risk.
medRxiv
; 2024 Apr 16.
Artículo
en Inglés
| MEDLINE | ID: mdl-38699369
7.
Inferring causal cell types of human diseases and risk variants from candidate regulatory elements.
medRxiv
; 2024 May 18.
Artículo
en Inglés
| MEDLINE | ID: mdl-38798383
8.
Structure and Properties of High-Entropy Boride Ceramics Synthesized by Mechanical Alloying and Spark Plasma Sintering.
Materials (Basel)
; 16(20)2023 Oct 18.
Artículo
en Inglés
| MEDLINE | ID: mdl-37895726
9.
A scalable variational approach to characterize pleiotropic components across thousands of human diseases and complex traits using GWAS summary statistics.
medRxiv
; 2023 Mar 29.
Artículo
en Inglés
| MEDLINE | ID: mdl-37034739
10.
Structural, Electrical, and Mechanical Properties Investigation of Open-Cell Aluminum Foams Obtained by Spark Plasma Sintering and Replication on Polyurethane Template.
Materials (Basel)
; 15(3)2022 Jan 26.
Artículo
en Inglés
| MEDLINE | ID: mdl-35160877
11.
Refractory CrMoNbWV High-Entropy Alloy Manufactured by Mechanical Alloying and Spark Plasma Sintering: Evolution of Microstructure and Properties.
Materials (Basel)
; 14(3)2021 Jan 29.
Artículo
en Inglés
| MEDLINE | ID: mdl-33572850
12.
Atomic Layer Deposition of Ni-Co-O Thin-Film Electrodes for Solid-State LIBs and the Influence of Chemical Composition on Overcapacity.
Nanomaterials (Basel)
; 11(4)2021 Apr 02.
Artículo
en Inglés
| MEDLINE | ID: mdl-33918231
13.
Influence of Alloying Elements on the Mechanical Properties of Anodized Aluminum and on the Adhesion of Copper Metallization.
Materials (Basel)
; 14(22)2021 Nov 19.
Artículo
en Inglés
| MEDLINE | ID: mdl-34832426
14.
Disrupted Hypothalamo-Pituitary Axis in Association With Reduced SHH Underlies the Pathogenesis of NOTCH-Deficiency.
J Clin Endocrinol Metab
; 105(9)2020 09 01.
Artículo
en Inglés
| MEDLINE | ID: mdl-32403133
15.
Depicting the genetic architecture of pediatric cancers through an integrative gene network approach.
Sci Rep
; 10(1): 1224, 2020 01 27.
Artículo
en Inglés
| MEDLINE | ID: mdl-31988326
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