Detalhe da pesquisa
1.
Identifying parental and cell-division origins of aneuploidy in the human blastocyst.
Am J Hum Genet
; 110(4): 565-574, 2023 04 06.
Artigo
em Inglês
| MEDLINE | ID: mdl-36977411
2.
On the reproductive capabilities of aneuploid human preimplantation embryos.
Am J Hum Genet
; 109(9): 1572-1581, 2022 09 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-36055209
3.
High-resolution PGT-A results in incidental identification of patients with small pathogenic copy number variants.
J Assist Reprod Genet
; 41(1): 121-126, 2024 Jan.
Artigo
em Inglês
| MEDLINE | ID: mdl-37957533
4.
Preimplantation genetic testing for aneuploidy: A review of published blastocyst reanalysis concordance data.
Prenat Diagn
; 41(5): 545-553, 2021 04.
Artigo
em Inglês
| MEDLINE | ID: mdl-32920823
5.
Advances in Preimplantation Genetic Testing for Monogenic Disease and Aneuploidy.
Annu Rev Genomics Hum Genet
; 18: 189-200, 2017 08 31.
Artigo
em Inglês
| MEDLINE | ID: mdl-28498723
6.
Exome sequencing links CEP120 mutation to maternally derived aneuploid conception risk.
Hum Reprod
; 35(9): 2134-2148, 2020 09 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-32772081
7.
PREIMPLANTATION GENETIC TESTING: Preimplantation genetic testing for polygenic disease risk.
Reproduction
; 160(5): A13-A17, 2020 Nov.
Artigo
em Inglês
| MEDLINE | ID: mdl-32413844
8.
Use of Polygenic Scores to Select Embryos.
N Engl J Med
; 385(18): 1727, 2021 10 28.
Artigo
em Inglês
| MEDLINE | ID: mdl-34706187
9.
Correspondence on "Clinical utility of polygenic risk scores for embryo selection: A points to consider statement of the American College of Medical Genetics and Genomics (ACMG)" by Grebe et al.
Genet Med
; : 101155, 2024 Jun 06.
Artigo
em Inglês
| MEDLINE | ID: mdl-38856723
10.
Validation of a targeted next generation sequencing-based comprehensive chromosome screening platform for detection of triploidy in human blastocysts.
Reprod Biomed Online
; 36(4): 388-395, 2018 Apr.
Artigo
em Inglês
| MEDLINE | ID: mdl-29366772
11.
Comprehensive chromosome screening and gene expression analysis from the same biopsy in human preimplantation embryos.
Mol Hum Reprod
; 23(5): 330-338, 2017 05 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-28369516
12.
Levels of trophectoderm mitochondrial DNA do not predict the reproductive potential of sibling embryos.
Hum Reprod
; 32(4): 954-962, 2017 04 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-28333210
13.
Preimplantation embryonic mosaicism: origin, consequences and the reliability of comprehensive chromosome screening.
Curr Opin Obstet Gynecol
; 29(3): 168-174, 2017 Jun.
Artigo
em Inglês
| MEDLINE | ID: mdl-28266934
14.
Deficiency of the alkaline ceramidase ACER3 manifests in early childhood by progressive leukodystrophy.
J Med Genet
; 53(6): 389-96, 2016 06.
Artigo
em Inglês
| MEDLINE | ID: mdl-26792856
15.
Leukoencephalopathy and early death associated with an Ashkenazi-Jewish founder mutation in the Hikeshi gene.
J Med Genet
; 53(2): 132-7, 2016 Feb.
Artigo
em Inglês
| MEDLINE | ID: mdl-26545878
16.
Mitochondrial DNA content is associated with ploidy status, maternal age, and oocyte maturation methods in mouse blastocysts.
J Assist Reprod Genet
; 34(12): 1587-1594, 2017 Dec.
Artigo
em Inglês
| MEDLINE | ID: mdl-29063991
17.
Evaluation of comprehensive chromosome screening platforms for the detection of mosaic segmental aneuploidy.
J Assist Reprod Genet
; 34(8): 975-981, 2017 Aug.
Artigo
em Inglês
| MEDLINE | ID: mdl-28577183
18.
Next Generation Sequencing-Based Comprehensive Chromosome Screening in Mouse Polar Bodies, Oocytes, and Embryos.
Biol Reprod
; 94(4): 76, 2016 Apr.
Artigo
em Inglês
| MEDLINE | ID: mdl-26911429
19.
Embryonic aneuploidy does not differ among genetic ancestry according to continental origin as determined by ancestry informative markers.
Hum Reprod
; 31(10): 2391-5, 2016 10.
Artigo
em Inglês
| MEDLINE | ID: mdl-27591228
20.
Human embryos commonly form abnormal nuclei during development: a mechanism of DNA damage, embryonic aneuploidy, and developmental arrest.
Hum Reprod
; 31(2): 312-23, 2016 Feb.
Artigo
em Inglês
| MEDLINE | ID: mdl-26621855