Detalhe da pesquisa
1.
Novel molecular mechanism in Malan syndrome uncovered through genome sequencing reanalysis, exon-level Array, and RNA sequencing.
Am J Med Genet A
; 194(5): e63516, 2024 May.
Artigo
em Inglês
| MEDLINE | ID: mdl-38168088
2.
Characterising the autoantibody repertoire in systemic sclerosis following myeloablative haematopoietic stem cell transplantation.
Ann Rheum Dis
; 82(5): 670-680, 2023 05.
Artigo
em Inglês
| MEDLINE | ID: mdl-36653124
3.
Evaluating the strength of evidence for genes implicated in peroxisomal disorders using the ClinGen clinical validity framework and providing updates to the peroxisomal disease nomenclature.
Mol Genet Metab
; 139(3): 107604, 2023 07.
Artigo
em Inglês
| MEDLINE | ID: mdl-37236006
4.
Specifications of the ACMG/AMP guidelines for ACADVL variant interpretation.
Mol Genet Metab
; 140(3): 107668, 2023 11.
Artigo
em Inglês
| MEDLINE | ID: mdl-37549443
5.
Conversion of drylands to paddy fields on former wetlands restores soil organic carbon by accumulating labile carbon fractions in the Sanjiang Plain, northeast China.
J Sci Food Agric
; 103(2): 599-605, 2023 Jan 30.
Artigo
em Inglês
| MEDLINE | ID: mdl-36468612
6.
Multiple endocrine neoplasia type 2 (MEN2) and RET specific modifications of the ACMG/AMP variant classification guidelines and impact on the MEN2 RET database.
Hum Mutat
; 43(12): 1780-1794, 2022 12.
Artigo
em Inglês
| MEDLINE | ID: mdl-36251279
7.
De novo putative loss-of-function variants in TAF4 are associated with a neuro-developmental disorder.
Hum Mutat
; 43(12): 1844-1851, 2022 12.
Artigo
em Inglês
| MEDLINE | ID: mdl-35904126
8.
Bi-allelic Variants in TONSL Cause SPONASTRIME Dysplasia and a Spectrum of Skeletal Dysplasia Phenotypes.
Am J Hum Genet
; 104(3): 422-438, 2019 03 07.
Artigo
em Inglês
| MEDLINE | ID: mdl-30773277
9.
Evaluating use of changing technologies for rapid next-generation sequencing in pediatrics.
Pediatr Res
; 92(5): 1364-1369, 2022 11.
Artigo
em Inglês
| MEDLINE | ID: mdl-35115709
10.
Genetic testing for inherited colorectal cancer and polyposis, 2021 revision: a technical standard of the American College of Medical Genetics and Genomics (ACMG).
Genet Med
; 23(10): 1807-1817, 2021 10.
Artigo
em Inglês
| MEDLINE | ID: mdl-34140662
11.
Effects of long-term nitrogen addition on dissolved organic matter characteristics in a temperate wetland of Northeast China.
Ecotoxicol Environ Saf
; 226: 112822, 2021 Dec 15.
Artigo
em Inglês
| MEDLINE | ID: mdl-34571419
12.
Specifications of the ACMG/AMP standards and guidelines for mitochondrial DNA variant interpretation.
Hum Mutat
; 41(12): 2028-2057, 2020 12.
Artigo
em Inglês
| MEDLINE | ID: mdl-32906214
13.
[Clinical practice guideline for stable chronic obstructive pulmonary disease with traditional Chinese medicine (draft version for comments)].
Zhongguo Zhong Yao Za Zhi
; 45(22): 5309-5322, 2020 Nov.
Artigo
em Zh
| MEDLINE | ID: mdl-33350190
14.
[Editorial explanation for clinical practice guideline for stable chronic obstructive pulmonary disease with traditional Chinese medicine].
Zhongguo Zhong Yao Za Zhi
; 45(22): 5323-5330, 2020 Nov.
Artigo
em Zh
| MEDLINE | ID: mdl-33350191
15.
[Systematic review and Meta-analysis on efficacy and safety of Liujunzi Decoction combined with Western medicine for stable chronic obstructive pulmonary disease].
Zhongguo Zhong Yao Za Zhi
; 45(22): 5331-5343, 2020 Nov.
Artigo
em Zh
| MEDLINE | ID: mdl-33350192
16.
[Systematic review and Meta-analysis on efficacy and safety of Buzhong Yiqi Decoction for stable chronic obstructive pulmonary disease].
Zhongguo Zhong Yao Za Zhi
; 45(22): 5344-5355, 2020 Nov.
Artigo
em Zh
| MEDLINE | ID: mdl-33350193
17.
[Analysis of acupoint selection of plaster therapy in treatment of stable chronic obstructive pulmonary disease based on data mining].
Zhongguo Zhong Yao Za Zhi
; 45(22): 5356-5361, 2020 Nov.
Artigo
em Zh
| MEDLINE | ID: mdl-33350194
18.
Circulating plasmablasts are elevated and produce pathogenic anti-endothelial cell autoantibodies in idiopathic pulmonary arterial hypertension.
Eur J Immunol
; 48(5): 874-884, 2018 05.
Artigo
em Inglês
| MEDLINE | ID: mdl-29369345
19.
Misattributed parentage as an unanticipated finding during exome/genome sequencing: current clinical laboratory practices and an opportunity for standardization.
Genet Med
; 21(4): 861-866, 2019 04.
Artigo
em Inglês
| MEDLINE | ID: mdl-30214068
20.
Development of Clinical Domain Working Groups for the Clinical Genome Resource (ClinGen): lessons learned and plans for the future.
Genet Med
; 21(4): 987-993, 2019 04.
Artigo
em Inglês
| MEDLINE | ID: mdl-30181607