Search details
1.
Lessons from the CAGI-4 Hopkins clinical panel challenge.
Hum Mutat
; 38(9): 1155-1168, 2017 09.
Article
in English
| MEDLINE | ID: mdl-28397312
2.
Working toward precision medicine: Predicting phenotypes from exomes in the Critical Assessment of Genome Interpretation (CAGI) challenges.
Hum Mutat
; 38(9): 1182-1192, 2017 09.
Article
in English
| MEDLINE | ID: mdl-28634997
3.
Leveraging network analytics to infer patient syndrome and identify causal genes in rare disease cases.
BMC Genomics
; 18(Suppl 5): 551, 2017 08 11.
Article
in English
| MEDLINE | ID: mdl-28812537
4.
Evaluating the association of multiple single nucleotide polymorphisms with response to gemcitabine and platinum combination chemotherapy in urothelial carcinoma of the bladderâ©.
Int J Clin Pharmacol Ther
; 55(3): 203-209, 2017 Mar.
Article
in English
| MEDLINE | ID: mdl-28177276
5.
Susceptibility loci associated with specific and shared subtypes of lymphoid malignancies.
PLoS Genet
; 9(1): e1003220, 2013.
Article
in English
| MEDLINE | ID: mdl-23349640
6.
Rare de novo germline copy-number variation in testicular cancer.
Am J Hum Genet
; 91(2): 379-83, 2012 Aug 10.
Article
in English
| MEDLINE | ID: mdl-22863192
7.
Genetic defects in bile acid conjugation cause fat-soluble vitamin deficiency.
Gastroenterology
; 144(5): 945-955.e6; quiz e14-5, 2013 May.
Article
in English
| MEDLINE | ID: mdl-23415802
8.
Rare variants in XRCC2 as breast cancer susceptibility alleles.
J Med Genet
; 49(10): 618-20, 2012 Oct.
Article
in English
| MEDLINE | ID: mdl-23054243
9.
Better bioinformatics will help labs manage genetic testing.
MLO Med Lab Obs
; 49(2): 28, 31, 2017 02.
Article
in English
| MEDLINE | ID: mdl-30005479
10.
Empowered genome community: leveraging a bioinformatics platform as a citizen-scientist collaboration tool.
Appl Transl Genom
; 6: 7-10, 2015 Sep.
Article
in English
| MEDLINE | ID: mdl-27054071
11.
Intrahepatic Cholestasis of Pregnancy (ICP) in U.S. Latinas and Chileans: Clinical features, Ancestry Analysis, and Admixture Mapping.
PLoS One
; 10(6): e0131211, 2015.
Article
in English
| MEDLINE | ID: mdl-26126184
12.
Absence of loss of heterozygosity of BRCA1 in a renal tumor from a BRCA1 germline mutation carrier.
Fam Cancer
; 12(1): 125-7, 2013 Mar.
Article
in English
| MEDLINE | ID: mdl-23086583
13.
Prevalence of HOXB13 mutation in a population of Ashkenazi Jewish men treated for prostate cancer.
Fam Cancer
; 12(4): 597-600, 2013 Dec.
Article
in English
| MEDLINE | ID: mdl-23475555
14.
CCBE1 mutation in two siblings, one manifesting lymphedema-cholestasis syndrome, and the other, fetal hydrops.
PLoS One
; 8(9): e75770, 2013.
Article
in English
| MEDLINE | ID: mdl-24086631
15.
Assessment of SLX4 Mutations in Hereditary Breast Cancers.
PLoS One
; 8(6): e66961, 2013.
Article
in English
| MEDLINE | ID: mdl-23840564
16.
A recurrent germline PAX5 mutation confers susceptibility to pre-B cell acute lymphoblastic leukemia.
Nat Genet
; 45(10): 1226-1231, 2013 Oct.
Article
in English
| MEDLINE | ID: mdl-24013638
17.
Genome Sequencing of Multiple Primary Tumors Reveals a Novel PALB2 Variant.
J Clin Oncol
; 34(8): e61-7, 2016 Mar 10.
Article
in English
| MEDLINE | ID: mdl-24982446
18.
Strain background modifies phenotypes in the ATP8B1-deficient mouse.
PLoS One
; 5(2): e8984, 2010 Feb 01.
Article
in English
| MEDLINE | ID: mdl-20126555
19.
Babesia microti primarily invades mature erythrocytes in mice.
Infect Immun
; 74(6): 3204-12, 2006 Jun.
Article
in English
| MEDLINE | ID: mdl-16714547
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