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1.
Development of a flipped learning course to deliver and scale molecular variant evaluation education: A quality improvement initiative.
J Genet Couns
; 33(1): 168-178, 2024 02.
Article
in English
| MEDLINE | ID: mdl-38197720
2.
WDR37 syndrome: identification of a distinct new cluster of disease-associated variants and functional analyses of mutant proteins.
Hum Genet
; 140(12): 1775-1789, 2021 Dec.
Article
in English
| MEDLINE | ID: mdl-34642815
3.
Impact of integrated translational research on clinical exome sequencing.
Genet Med
; 23(3): 498-507, 2021 03.
Article
in English
| MEDLINE | ID: mdl-33144682
4.
CSNK2B: A broad spectrum of neurodevelopmental disability and epilepsy severity.
Epilepsia
; 62(7): e103-e109, 2021 07.
Article
in English
| MEDLINE | ID: mdl-34041744
5.
CTCF variants in 39 individuals with a variable neurodevelopmental disorder broaden the mutational and clinical spectrum.
Genet Med
; 21(12): 2723-2733, 2019 12.
Article
in English
| MEDLINE | ID: mdl-31239556
6.
Impact of integrated translational research on clinical exome sequencing.
Genet Med
; 25(2): 100359, 2023 Feb.
Article
in English
| MEDLINE | ID: mdl-36745126
7.
Exome sequencing reveals frequent deleterious germline variants in cancer susceptibility genes in women with invasive breast cancer undergoing neoadjuvant chemotherapy.
Breast Cancer Res Treat
; 153(2): 435-43, 2015 Sep.
Article
in English
| MEDLINE | ID: mdl-26296701
8.
Appreciating the broad clinical features of SMAD4 mutation carriers: a multicenter chart review.
Genet Med
; 16(8): 588-93, 2014 Aug.
Article
in English
| MEDLINE | ID: mdl-24525918
9.
RNA-Seq detects a SAMD12-EXT1 fusion transcript and leads to the discovery of an EXT1 deletion in a child with multiple osteochondromas.
Mol Genet Genomic Med
; 7(3): e00560, 2019 03.
Article
in English
| MEDLINE | ID: mdl-30632316
10.
Tumor Sequencing and Patient-Derived Xenografts in the Neoadjuvant Treatment of Breast Cancer.
J Natl Cancer Inst
; 109(7)2017 07 01.
Article
in English
| MEDLINE | ID: mdl-28376176
11.
Determining the frequency of pathogenic germline variants from exome sequencing in patients with castrate-resistant prostate cancer.
BMJ Open
; 6(4): e010332, 2016 Apr 15.
Article
in English
| MEDLINE | ID: mdl-27084275
12.
Preemptive genotyping for personalized medicine: design of the right drug, right dose, right time-using genomic data to individualize treatment protocol.
Mayo Clin Proc
; 89(1): 25-33, 2014 Jan.
Article
in English
| MEDLINE | ID: mdl-24388019
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