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Allele-Specific Chromosome Removal after Cas9 Cleavage in Human Embryos
Michael V. Zuccaro, Jia L. Xu, Carl A. Mitchell et al. · Cell
Open access |
29 Oct 2020 |
334 |
| 2 |
The “mosaic” embryo: misconceptions and misinterpretations in preimplantation genetic testing for aneuploidy
Nathan R. Treff, Diego Marín · Fertility and Sterility
Open access |
23 Jul 2021 |
96 |
| 3 |
Validation of concurrent preimplantation genetic testing for polygenic and monogenic disorders, structural rearrangements, and whole and segmental chromosome aneuploidy with a single universal platform
Nathan R. Treff, Raymond Zimmerman, Elan Bechor et al. · European Journal of Medical Genetics
Open access |
23 Apr 2019 |
89 |
| 4 |
Genomic Prediction of 16 Complex Disease Risks Including Heart Attack, Diabetes, Breast and Prostate Cancer
Louis Lello, Timothy G. Raben, Soke Yuen Yong et al. · Scientific Reports
Open access |
25 Oct 2019 |
84 |
| 5 |
Utility and First Clinical Application of Screening Embryos for Polygenic Disease Risk Reduction
Nathan R. Treff, Jennifer Eccles, Lou Lello et al. · Frontiers in Endocrinology
Open access |
3 Dec 2019 |
83 |
| 6 |
Preimplantation genetic testing for aneuploidy: A review of published blastocyst reanalysis concordance data
Diego Marín, Jia L. Xu, Nathan R. Treff · Prenatal Diagnosis
Open access |
17 Sep 2020 |
77 |
| 7 |
On the reproductive capabilities of aneuploid human preimplantation embryos
Antonio Capalbo, Maurizio Poli, Chaim Jalas et al. · The American Journal of Human Genetics
Open access |
Sep 2022 |
73 |
| 8 |
Investigating the impact of the timing of blastulation on implantation: management of embryo-endometrial synchrony improves outcomes
Jason M. Franasiak, Eric J. Forman, George Patounakis et al. · Human Reproduction Open
Open access |
2018 |
67 |
| 9 |
The pros and cons of preimplantation genetic testing for aneuploidy: clinical and laboratory perspectives
Zev Rosenwaks, Alan H. Handyside, Francesco Fiorentino et al. · Fertility and Sterility
Open access |
Aug 2018 |
63 |
| 10 |
Preimplantation Genetic Testing for Polygenic Disease Relative Risk Reduction: Evaluation of Genomic Index Performance in 11,883 Adult Sibling Pairs
Nathan R. Treff, Jennifer Eccles, Diego Marin et al. · Genes
Open access |
12 Jun 2020 |
59 |
| 11 |
Identifying parental and cell-division origins of aneuploidy in the human blastocyst
Bhavini Rana, Kevin Lambrese, Robert J. Mendola et al. · The American Journal of Human Genetics
Open access |
27 Mar 2023 |
53 |
| 12 |
Sibling validation of polygenic risk scores and complex trait prediction
Louis Lello, Timothy G. Raben, Stephen Hsu · Scientific Reports
Open access |
6 Aug 2020 |
42 |
| 13 |
Machine Learning Prediction of Biomarkers from SNPs and of Disease Risk from Biomarkers in the UK Biobank
Erik Widén, Timothy G. Raben, Louis Lello et al. · Genes
Open access |
29 Jun 2021 |
32 |
| 14 |
Genetic architecture of complex traits and disease risk predictors
Soke Yuen Yong, Timothy G. Raben, Louis Lello et al. · Scientific Reports
Open access |
21 Jul 2020 |
32 |
| 15 |
Embryo Screening for Polygenic Disease Risk: Recent Advances and Ethical Considerations
Laurent C. A. M. Tellier, Jennifer Eccles, Nathan R. Treff et al. · Genes
Open access |
20 Jul 2021 |
31 |
| 16 |
Isn’t it time to stop calling preimplantation embryos “mosaic”?
Richard J. Paulson, Nathan R. Treff · F&S Reports
Open access |
5 Nov 2020 |
30 |
| 17 |
PREIMPLANTATION GENETIC TESTING: Preimplantation genetic testing for polygenic disease risk
Nathan R. Treff, Diego Marin, Louis Lello et al. · Reproduction
Open access |
15 May 2020 |
27 |
| 18 |
Polygenic Health Index, General Health, and Pleiotropy: Sibling Analysis and Disease Risk Reduction
Erik Widén, Louis Lello, Timothy G. Raben et al. · Scientific Reports
Open access |
28 Oct 2022 |
23 |
| 19 |
Should preimplantation genetic testing for polygenic disease be offered to all – or none?
Nathan R. Treff, Julian Savulescu, Inmaculada de Melo‐Martín et al. · Fertility and Sterility
Open access |
3 May 2022 |
21 |
| 20 |
Population-specific polygenic risk scores for people of Han Chinese ancestry
Hung‐Hsin Chen et al. · Nature
Open access136 authors |
15 Oct 2025 |
20 |
| 21 |
Integrated RNA-seq and ChIP-seq analysis reveals a feed-forward loop regulating H3K9ac and key labor drivers in human placenta
Bingbing Wang, Panwen Wang, Nataliya Parobchak et al. · Placenta
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2019 |
17 |
| 22 |
From Genotype to Phenotype: Polygenic Prediction of Complex Human Traits
Timothy G. Raben, Louis Lello, Erik Widén et al. · Methods in molecular biology
Book chapter |
2022 |
16 |
| 23 |
Sibling variation in polygenic traits and DNA recombination mapping with UK Biobank and IVF family data
Louis Lello, Maximus Hsu, Erik Widén et al. · Scientific Reports
Open access |
7 Jan 2023 |
12 |
| 24 |
Biobank-scale methods and projections for sparse polygenic prediction from machine learning
Timothy G. Raben, Louis Lello, Erik Widén et al. · Scientific Reports
Open access |
19 Jul 2023 |
11 |
| 25 |
Accurate detection and frequency of abnormal ploidy in the human blastocyst
Catherine Kratka, Padma Samhita Vadapalli, Robert J. Mendola et al. · F&S Science
Open access |
Mar 2023 |
10 |
| 26 |
RATE OF PATIENTS ELECTING FOR POLYGENIC RISK SCORES IN PREIMPLANTATION GENETIC TESTING
Jennifer Eccles, Diego Marin, Leslie Duffy et al. · Fertility and Sterility
Open access |
Sep 2021 |
10 |
| 27 |
Efficient base editing and development in human embryos without chromosomal alterations
Petr Jeřábek, Jimin Kim, Julie Sung et al. · bioRxiv (Cold Spring Harbor Laboratory)
Preprint |
Jun 2026 |
9 |
| 28 |
The severity of meiotic aneuploidy is associated with altered morphokinetic variables of mouse oocyte maturation
Yiru Zhu, Catherine R. Kratka, Jeffrey Pea et al. · Human Reproduction Open
Open access |
2024 |
8 |
| 29 |
High-resolution PGT-A results in incidental identification of patients with small pathogenic copy number variants
Deirdre Leahy, Diego Marín, Jia Xu et al. · Journal of Assisted Reproduction and Genetics
Open access |
14 Nov 2023 |
7 |
| 30 |
DNA Double Strand Breaks cause chromosome loss through sister chromatid tethering in human embryos
Jenna M. Turocy, Diego Marín, Shuangyi Xu et al. · bioRxiv (Cold Spring Harbor Laboratory)
PreprintOpen access |
10 Mar 2022 |
7 |
| 31 |
Genomic Prediction of Complex Disease Risk
Louis Lello, Timothy G. Raben, Soke Yuen Yong et al. · bioRxiv (Cold Spring Harbor Laboratory)
PreprintOpen access |
27 Dec 2018 |
6 |
| 32 |
Molecular Testing for Preimplantation Genetic Diagnosis of Single Gene Disorders
Rebekah Zimmerman, Jennifer Eccles, Chaim Jalas et al. · Methods in molecular biology
Book chapter |
30 Nov 2018 |
4 |
| 33 |
POLYGENIC RISK SCORES, PGT-P, AND IVF: SIBLING AND NON-EUROPEAN ANCESTRY VALIDATIONS
Louis Lello, Laurent C. A. M. Tellier · Fertility and Sterility
Open access |
Sep 2021 |
3 |
| 34 |
Polygenic risk scoring in the human embryo: reproductive genetics, final frontier?
Nathan R. Treff · F&S Science
Open access |
23 Jul 2020 |
3 |
| 35 |
Blastocyst segmental aneuploidy breakpoints are highly correlated with human genome fragile sites
Elaine de Quadros, Jia L. Xu, Nathan R. Treff et al. · Human Reproduction
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30 Jul 2025 |
2 |
| 36 |
THE EMBRYO HEALTH STUDY: RATE OF PATIENTS ELECTING POLYGENIC RISK SCORES IN PREIMPLANTATION GENETIC TESTING
J. D. Eccles, Deirdre Leahy, Kelsey Reynolds et al. · Fertility and Sterility
Open access |
Oct 2022 |
2 |
| 37 |
Polygenic Health Index, General Health, Pleiotropy, Embryo Selection and Disease Risk
Erik Widén, Louis Lello, Timothy G. Raben et al. · medRxiv
PreprintOpen access |
21 Jun 2022 |
2 |
| 38 |
Validation of simultaneous preimplantation genetic testing (PGT) for aneuploidy, monogenic, and polygenic disorders
Nathan R. Treff, Raymond Zimmerman, J. Li et al. · Fertility and Sterility
Open access |
Sep 2018 |
2 |
| 39 |
Highly efficient base editing at PCSK9 and normal human embryo development
Stepan Jerabek et al. · Nature
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9 Sep 2026 |
1 |
| 40 |
DSB repair kinetics impair CRISPR-Cas9 editing in human embryos
Dieter M. Egli, Diego Marin, Nathan R. Treff et al. · bioRxiv (Cold Spring Harbor Laboratory)
PreprintOpen access |
10 May 2025 |
1 |
| 41 |
Efficient blockLASSO for polygenic scores with applications to All of Us and UK Biobank
Timothy G. Raben, Louis Lello, Erik Widén et al. · BMC Genomics
Open access |
27 Mar 2025 |
1 |
| 42 |
Polygenic height prediction for the Han Chinese in Taiwan
Chih‐Hao Chang et al. · npj Genomic Medicine
Open access |
5 Feb 2025 |
1 |
| 43 |
EVALUATING HUMAN BLASTOCYST MORPHOLOGY AND POLYGENIC DISEASE RISK SCORES
Jordan O'Donnell, Erik Widén, Jia Xu et al. · Fertility and Sterility
Open access |
Oct 2024 |
1 |
| 44 |
Recruiting and cultivating future leaders in laboratory science
Alison F. Bartolucci, Charlene A. Alouf, Marlane J. Angle et al. · Current Opinion in Obstetrics & Gynecology
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29 Apr 2024 |
1 |
| 45 |
Scientific refutation of ESHG statement on embryo selection
Laurent C. A. M. Tellier, Nathan R. Treff, Stephen Hsu et al. · European Journal of Human Genetics
Open access |
12 Dec 2022 |
1 |
| 46 |
Sibling Variation in Phenotype and Genotype: Polygenic Trait Distributions and DNA Recombination Mapping with UK Biobank and IVF Family Data
Louis Lello, Maximus Hsu, Erik Widén et al. · medRxiv
PreprintOpen access |
19 Sep 2022 |
1 |
| 47 |
A Phenotype-Specific Framework for Identifying the Eye Abnormalities Causative Nonsynonymous-Variants
Hankui Liu, Xiao Dang, Liping Guan et al. · SSRN Electronic Journal
PreprintOpen access |
2020 |
1 |
| 48 |
Within-Family Validation of Polygenic Risk Scores and Complex Trait Prediction
Louis Lello, Timothy G. Raben, Stephen Hsu · bioRxiv (Cold Spring Harbor Laboratory)
PreprintOpen access |
5 Mar 2020 |
1 |
| 49 |
The Genetics of Pregnancy Failure
Eric J. Forman, Nathan R. Treff, Rebekah Zimmerman
Book chapter |
30 Nov 2017 |
1 |
| 50 |
L26/P-665 Aneuploidy persists in donor IVF cycles and exhibits distinct biological origins
D. Garro, D. Marin · Human Reproduction
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Jul 2026 |
0 |