Search details
1.
Biallelic PRMT7 pathogenic variants are associated with a recognizable syndromic neurodevelopmental disorder with short stature, obesity, and craniofacial and digital abnormalities.
Genet Med
; 25(1): 135-142, 2023 01.
Article
in English
| MEDLINE | ID: mdl-36399134
2.
Biallelic Variants in the Ectonucleotidase ENTPD1 Cause a Complex Neurodevelopmental Disorder with Intellectual Disability, Distinct White Matter Abnormalities, and Spastic Paraplegia.
Ann Neurol
; 92(2): 304-321, 2022 08.
Article
in English
| MEDLINE | ID: mdl-35471564
3.
A recurrent homozygous missense DPM3 variant leads to muscle and brain disease.
Clin Genet
; 102(6): 530-536, 2022 12.
Article
in English
| MEDLINE | ID: mdl-35932216
4.
Targeted mutation detection in breast cancer using MammaSeq™.
Breast Cancer Res
; 21(1): 22, 2019 02 08.
Article
in English
| MEDLINE | ID: mdl-30736836
5.
SNAIL is induced by tamoxifen and leads to growth inhibition in invasive lobular breast carcinoma.
Breast Cancer Res Treat
; 175(2): 327-337, 2019 Jun.
Article
in English
| MEDLINE | ID: mdl-30798422
6.
Clinically Observed Estrogen Receptor Alpha Mutations within the Ligand-Binding Domain Confer Distinguishable Phenotypes.
Oncology
; 94(3): 176-189, 2018.
Article
in English
| MEDLINE | ID: mdl-29306943
7.
Mutation site and context dependent effects of ESR1 mutation in genome-edited breast cancer cell models.
Breast Cancer Res
; 19(1): 60, 2017 05 23.
Article
in English
| MEDLINE | ID: mdl-28535794
8.
Biallelic variation in the choline and ethanolamine transporter FLVCR1 underlies a pleiotropic disease spectrum from adult neurodegeneration to severe developmental disorders.
medRxiv
; 2024 Feb 13.
Article
in English
| MEDLINE | ID: mdl-38405817
9.
Which information locations in covered entities under HIPAA must be secured first? A multi-criteria decision-making approach.
J Healthc Risk Manag
; 43(2): 27-36, 2023 Oct.
Article
in English
| MEDLINE | ID: mdl-37616038
10.
Biallelic loss of LDB3 leads to a lethal pediatric dilated cardiomyopathy.
Eur J Hum Genet
; 31(1): 97-104, 2023 01.
Article
in English
| MEDLINE | ID: mdl-36253531
11.
ESR1 mutant breast cancers show elevated basal cytokeratins and immune activation.
Nat Commun
; 13(1): 2011, 2022 04 19.
Article
in English
| MEDLINE | ID: mdl-35440136
12.
Hotspot ESR1 Mutations Are Multimodal and Contextual Modulators of Breast Cancer Metastasis.
Cancer Res
; 82(7): 1321-1339, 2022 04 01.
Article
in English
| MEDLINE | ID: mdl-35078818
13.
Clinical and genetic profile of children with unexplained intellectual disability/developmental delay and epilepsy.
Epilepsy Res
; 177: 106782, 2021 11.
Article
in English
| MEDLINE | ID: mdl-34695666
14.
A novel carcinogenic PI3Kα mutation suggesting the role of helical domain in transmitting nSH2 regulatory signals to kinase domain.
Life Sci
; 269: 118759, 2021 Mar 15.
Article
in English
| MEDLINE | ID: mdl-33189828
15.
Frequent amplifications of ESR1, ERBB2 and MDM4 in primary invasive lobular breast carcinoma.
Cancer Lett
; 461: 21-30, 2019 Oct 01.
Article
in English
| MEDLINE | ID: mdl-31229512
16.
Frequent ESR1 and CDK Pathway Copy-Number Alterations in Metastatic Breast Cancer.
Mol Cancer Res
; 17(2): 457-468, 2019 02.
Article
in English
| MEDLINE | ID: mdl-30355675
17.
Upregulation of IRS1 Enhances IGF1 Response in Y537S and D538G ESR1 Mutant Breast Cancer Cells.
Endocrinology
; 159(1): 285-296, 2018 01 01.
Article
in English
| MEDLINE | ID: mdl-29029116
18.
Non-coding single nucleotide variants affecting estrogen receptor binding and activity.
Genome Med
; 8(1): 128, 2016 12 13.
Article
in English
| MEDLINE | ID: mdl-27964748
19.
Sensitive Detection of Mono- and Polyclonal ESR1 Mutations in Primary Tumors, Metastatic Lesions, and Cell-Free DNA of Breast Cancer Patients.
Clin Cancer Res
; 22(5): 1130-7, 2016 Mar 01.
Article
in English
| MEDLINE | ID: mdl-26500237
20.
Invasive lobular carcinoma cell lines are characterized by unique estrogen-mediated gene expression patterns and altered tamoxifen response.
Cancer Res
; 74(5): 1463-74, 2014 Mar 01.
Article
in English
| MEDLINE | ID: mdl-24425047
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