Search details
1.
Spatial and temporal mapping of de novo mutations in schizophrenia to a fetal prefrontal cortical network.
Cell
; 154(3): 518-29, 2013 Aug 01.
Article
in English
| MEDLINE | ID: mdl-23911319
2.
G-U base-paired hpRNA confers potent inhibition of small RNA function in plants.
Plant J
; 117(4): 1206-1222, 2024 Feb.
Article
in English
| MEDLINE | ID: mdl-38038953
3.
Targeted long-read sequencing identifies missing disease-causing variation.
Am J Hum Genet
; 108(8): 1436-1449, 2021 08 05.
Article
in English
| MEDLINE | ID: mdl-34216551
4.
Multidisciplinary Surgical Approach to Increase Survival for Advanced Ovarian Cancer in a Tertiary Gynaecological Oncology Centre.
Ann Surg Oncol
; 31(1): 460-472, 2024 Jan.
Article
in English
| MEDLINE | ID: mdl-37875740
5.
Clinically Complex LRBA Deficiency Due to a Founder Allele in the Georgian Jewish Population.
J Clin Immunol
; 43(1): 151-164, 2023 01.
Article
in English
| MEDLINE | ID: mdl-36063261
6.
The redlegged earth mite draft genome provides new insights into pesticide resistance evolution and demography in its invasive Australian range.
J Evol Biol
; 36(2): 381-398, 2023 02.
Article
in English
| MEDLINE | ID: mdl-36573922
7.
Diagnostic yield of chromosomal microarray and trio whole exome sequencing in cryptogenic cerebral palsy.
J Med Genet
; 59(8): 759-767, 2022 08.
Article
in English
| MEDLINE | ID: mdl-34321325
8.
Genomic analysis of inherited hearing loss in the Palestinian population.
Proc Natl Acad Sci U S A
; 117(33): 20070-20076, 2020 08 18.
Article
in English
| MEDLINE | ID: mdl-32747562
9.
Molecular diagnosis of childhood immune dysregulation, polyendocrinopathy, and enteropathy, and implications for clinical management.
J Allergy Clin Immunol
; 149(1): 327-339, 2022 01.
Article
in English
| MEDLINE | ID: mdl-33864888
10.
Gut Microbial Perturbation and Host Response Induce Redox Pathway Upregulation along the Gut-Liver Axis during Giardiasis in C57BL/6J Mouse Model.
Int J Mol Sci
; 24(2)2023 Jan 13.
Article
in English
| MEDLINE | ID: mdl-36675151
11.
Mutational spectrum of breast cancer susceptibility genes among women ascertained in a cancer risk clinic in Northeast Brazil.
Breast Cancer Res Treat
; 193(2): 485-494, 2022 Jun.
Article
in English
| MEDLINE | ID: mdl-35353237
12.
Text Messaging, Telephone, or In-Person Outpatient Visit to the Surgical Clinic: A Randomized Trial.
J Surg Res
; 280: 226-233, 2022 12.
Article
in English
| MEDLINE | ID: mdl-36007481
13.
CRISPR-Cas9/long-read sequencing approach to identify cryptic mutations in BRCA1 and other tumour suppressor genes.
J Med Genet
; 58(12): 850-852, 2021 12.
Article
in English
| MEDLINE | ID: mdl-33060287
14.
Characterization of splice-altering mutations in inherited predisposition to cancer.
Proc Natl Acad Sci U S A
; 116(52): 26798-26807, 2019 Dec 26.
Article
in English
| MEDLINE | ID: mdl-31843900
15.
Inherited predisposition to malignant mesothelioma and overall survival following platinum chemotherapy.
Proc Natl Acad Sci U S A
; 116(18): 9008-9013, 2019 04 30.
Article
in English
| MEDLINE | ID: mdl-30975761
16.
Genomics and transcriptomics yields a system-level view of the biology of the pathogen Naegleria fowleri.
BMC Biol
; 19(1): 142, 2021 07 22.
Article
in English
| MEDLINE | ID: mdl-34294116
17.
User Evaluation of a Novel Smart Insufflator for Laparoscopic Surgery-The EVA-15.
Surg Technol Int
; 40: 71-77, 2022 May 19.
Article
in English
| MEDLINE | ID: mdl-34942676
18.
Adaptive Introgression across Semipermeable Species Boundaries between Local Helicoverpa zea and Invasive Helicoverpa armigera Moths.
Mol Biol Evol
; 37(9): 2568-2583, 2020 09 01.
Article
in English
| MEDLINE | ID: mdl-32348505
19.
Inherited thrombocytopenia associated with mutation of UDP-galactose-4-epimerase (GALE).
Hum Mol Genet
; 28(1): 133-142, 2019 01 01.
Article
in English
| MEDLINE | ID: mdl-30247636
20.
Using Somatic Mutations from Tumors to Classify Variants in Mismatch Repair Genes.
Am J Hum Genet
; 103(1): 19-29, 2018 07 05.
Article
in English
| MEDLINE | ID: mdl-29887214