Search details
1.
Genomic newborn screening for rare diseases.
Nat Rev Genet
; 24(11): 755-766, 2023 Nov.
Article
in English
| MEDLINE | ID: mdl-37386126
2.
Scaling national and international improvement in virtual gene panel curation via a collaborative approach to discordance resolution.
Am J Hum Genet
; 108(9): 1551-1557, 2021 09 02.
Article
in English
| MEDLINE | ID: mdl-34329581
3.
Addition of rapamycin or co-culture with cumulus cells from younger reproductive age women does not improve rescue in vitro oocyte maturation or euploidy rates in older reproductive age women.
Mol Hum Reprod
; 30(2)2024 Feb 01.
Article
in English
| MEDLINE | ID: mdl-38180884
4.
Oocyte rescue in-vitro maturation does not adversely affect chromosome segregation during the first meiotic division.
Reprod Biomed Online
; 48(1): 103379, 2024 Jan.
Article
in English
| MEDLINE | ID: mdl-37919136
5.
Epichloë fungal endophyte interactions in perennial ryegrass (Lolium perenne L.) modified to accumulate foliar lipids for increased energy density.
BMC Plant Biol
; 23(1): 636, 2023 Dec 11.
Article
in English
| MEDLINE | ID: mdl-38072924
6.
Genomic newborn screening: Are we entering a new era of screening?
J Inherit Metab Dis
; 46(5): 778-795, 2023 09.
Article
in English
| MEDLINE | ID: mdl-37403863
7.
Phytoestrogens Present in Follicular Fluid and Urine Are Positively Associated with IVF Outcomes following Single Euploid Embryo Transfer.
Int J Mol Sci
; 24(13)2023 Jun 29.
Article
in English
| MEDLINE | ID: mdl-37446033
8.
The Impact of Essential Trace Elements on Ovarian Response and Reproductive Outcomes following Single Euploid Embryo Transfer.
Int J Mol Sci
; 24(13)2023 Jun 30.
Article
in English
| MEDLINE | ID: mdl-37446146
9.
Bioaccumulation of Non-Essential Trace Elements Detected in Women's Follicular Fluid, Urine, and Plasma Is Associated with Poor Reproductive Outcomes following Single Euploid Embryo Transfer: A Pilot Study.
Int J Mol Sci
; 24(17)2023 Aug 24.
Article
in English
| MEDLINE | ID: mdl-37685954
10.
Amide- and bis-amide-linked highly potent and broadly active antifungal agents for the treatment of invasive fungal infections- towards the discovery of pre-clinical development candidate FC12406.
Med Chem Res
; : 1-17, 2023 May 30.
Article
in English
| MEDLINE | ID: mdl-37362318
11.
Development and validation of an AI-enabled digital breast cancer assay to predict early-stage breast cancer recurrence within 6 years.
Breast Cancer Res
; 24(1): 93, 2022 12 20.
Article
in English
| MEDLINE | ID: mdl-36539895
12.
Novel truncating mutations in CTNND1 cause a dominant craniofacial and cardiac syndrome.
Hum Mol Genet
; 29(11): 1900-1921, 2020 07 21.
Article
in English
| MEDLINE | ID: mdl-32196547
13.
Predicting embryonic aneuploidy rate in IVF patients using whole-exome sequencing.
Hum Genet
; 141(10): 1615-1627, 2022 Oct.
Article
in English
| MEDLINE | ID: mdl-35347416
14.
Finding Diagnostically Useful Patterns in Quantitative Phenotypic Data.
Am J Hum Genet
; 105(5): 933-946, 2019 11 07.
Article
in English
| MEDLINE | ID: mdl-31607427
15.
Limits imposed by the experimental design of a large prospective non-inferiority study on PGT-A invalidate many of the conclusions.
Hum Reprod
; 37(12): 2735-2742, 2022 11 24.
Article
in English
| MEDLINE | ID: mdl-36287636
16.
Transcriptomic landscape of granulosa cells and peripheral blood mononuclear cells in women with PCOS compared to young poor responders and women with normal response.
Hum Reprod
; 37(6): 1274-1286, 2022 05 30.
Article
in English
| MEDLINE | ID: mdl-35451009
17.
MED27, SLC6A7, and MPPE1 Variants in a Complex Neurodevelopmental Disorder with Severe Dystonia.
Mov Disord
; 37(10): 2139-2146, 2022 10.
Article
in English
| MEDLINE | ID: mdl-35876425
18.
Calcium Ionophore A23187 treatment to rescue unfertilized oocytes: a prospective randomized analysis of sibling oocytes.
Reprod Biomed Online
; 45(5): 878-883, 2022 11.
Article
in English
| MEDLINE | ID: mdl-36038485
19.
Wildfire Impact on Indoor and Outdoor PAH Air Quality.
Environ Sci Technol
; 56(14): 10042-10052, 2022 07 19.
Article
in English
| MEDLINE | ID: mdl-35803593
20.
A healthcare workers' mHealth adoption instrument for the developing world.
BMC Health Serv Res
; 22(1): 1225, 2022 Oct 02.
Article
in English
| MEDLINE | ID: mdl-36183082