Detalles de la búsqueda
1.
Homozygous missense variants in YKT6 result in loss of function and are associated with developmental delay, with or without severe infantile liver disease and risk for hepatocellular carcinoma.
Genet Med
; 26(7): 101125, 2024 Mar 21.
Artículo
en Inglés
| MEDLINE | ID: mdl-38522068
2.
A disorder-related variant (E420K) of a PP2A-regulatory subunit (PPP2R5D) causes constitutively active AKT-mTOR signaling and uncoordinated cell growth.
J Biol Chem
; 296: 100313, 2021.
Artículo
en Inglés
| MEDLINE | ID: mdl-33482199
3.
Bi-allelic PAGR1 variants are associated with microcephaly and a severe neurodevelopmental disorder: Genetic evidence from two families.
Am J Med Genet A
; 188(1): 336-342, 2022 01.
Artículo
en Inglés
| MEDLINE | ID: mdl-34585832
4.
A homozygous splice variant in ATP5PO, disrupts mitochondrial complex V function and causes Leigh syndrome in two unrelated families.
J Inherit Metab Dis
; 45(5): 996-1012, 2022 09.
Artículo
en Inglés
| MEDLINE | ID: mdl-35621276
5.
A novel homozygous variant in TRAPPC2L results in a neurodevelopmental disorder and disrupts TRAPP complex function.
J Med Genet
; 58(9): 592-601, 2021 09.
Artículo
en Inglés
| MEDLINE | ID: mdl-32843486
6.
Peroxisomes can oxidize medium- and long-chain fatty acids through a pathway involving ABCD3 and HSD17B4.
FASEB J
; 33(3): 4355-4364, 2019 03.
Artículo
en Inglés
| MEDLINE | ID: mdl-30540494
7.
Mild inborn errors of metabolism in commonly used inbred mouse strains.
Mol Genet Metab
; 126(4): 388-396, 2019 04.
Artículo
en Inglés
| MEDLINE | ID: mdl-30709776
8.
A next generation sequencing based approach to identify extracellular vesicle mediated mRNA transfers between cells.
BMC Genomics
; 18(1): 987, 2017 12 22.
Artículo
en Inglés
| MEDLINE | ID: mdl-29273013
9.
Germline deletion of Krüppel-like factor 14 does not increase risk of diet induced metabolic syndrome in male C57BL/6 mice.
Biochim Biophys Acta Mol Basis Dis
; 1863(12): 3277-3285, 2017 12.
Artículo
en Inglés
| MEDLINE | ID: mdl-28962896
10.
Novel, compound heterozygous, single-nucleotide variants in MARS2 associated with developmental delay, poor growth, and sensorineural hearing loss.
Hum Mutat
; 36(6): 587-92, 2015 Jun.
Artículo
en Inglés
| MEDLINE | ID: mdl-25754315
11.
Genetic basis of alpha-aminoadipic and alpha-ketoadipic aciduria.
J Inherit Metab Dis
; 38(5): 873-9, 2015 Sep.
Artículo
en Inglés
| MEDLINE | ID: mdl-25860818
12.
Tissue specific expression of myosin IC isoforms.
BMC Cell Biol
; 15: 8, 2014 Mar 11.
Artículo
en Inglés
| MEDLINE | ID: mdl-24618359
13.
Functional dissection of human cardiac enhancers and noncoding de novo variants in congenital heart disease.
Nat Genet
; 56(3): 420-430, 2024 Mar.
Artículo
en Inglés
| MEDLINE | ID: mdl-38378865
14.
A temporal classifier predicts histopathology state and parses acute-chronic phasing in inflammatory bowel disease patients.
Commun Biol
; 6(1): 95, 2023 01 24.
Artículo
en Inglés
| MEDLINE | ID: mdl-36694043
15.
Identification and validation of candidate risk genes in endocytic vesicular trafficking associated with esophageal atresia and tracheoesophageal fistulas.
HGG Adv
; 3(3): 100107, 2022 Jul 14.
Artículo
en Inglés
| MEDLINE | ID: mdl-35519826
16.
Erratum: Identification and validation of candidate risk genes in endocytic vesicular trafficking associated with esophageal atresia and tracheoesophageal fistulas.
HGG Adv
; 3(3): 100126, 2022 Jul 14.
Artículo
en Inglés
| MEDLINE | ID: mdl-35800210
17.
Genome-Wide De Novo Variants in Congenital Heart Disease Are Not Associated With Maternal Diabetes or Obesity.
Circ Genom Precis Med
; 15(2): e003500, 2022 04.
Artículo
en Inglés
| MEDLINE | ID: mdl-35130025
18.
Rare variant analysis of 4241 pulmonary arterial hypertension cases from an international consortium implicates FBLN2, PDGFD, and rare de novo variants in PAH.
Genome Med
; 13(1): 80, 2021 05 10.
Artículo
en Inglés
| MEDLINE | ID: mdl-33971972
19.
Development and analytical validation of a next-generation sequencing based microsatellite instability (MSI) assay.
Oncotarget
; 10(50): 5181-5193, 2019 Aug 27.
Artículo
en Inglés
| MEDLINE | ID: mdl-31497248
20.
Proliferative potential and resistance to immune checkpoint blockade in lung cancer patients.
J Immunother Cancer
; 7(1): 27, 2019 02 01.
Artículo
en Inglés
| MEDLINE | ID: mdl-30709424