Leaderboards/Prenatal Screening and Diagnostics

Prenatal Screening and Diagnostics

Last updated July 15, 2026

Rising Stars

Fresh ink, massive impact

Researchers

1
Ida Marie Astad Jentoft
Max Planck Institute for Multidisciplinary Sciences
2
Rowan M. Karvas
University of Colorado Anschutz Medical Campus
3
Mathilde Dura
European Molecular Biology Laboratory
4
Lisanne van Prooyen Schuurman
Erasmus MC
5
Matthew J. Shannon
University of British Columbia
6
Sergi Junyent
California Institute of Technology
7
Cerys E. Currie
University of Warwick
8
Ellis C. Becking
University Medical Center Utrecht
9
Effrosyni A. Chavli
Erasmus MC
10
Katherine L. Palmerola
Foundation for Reproductive Medicine

Papers

1
Single-cell assessment of primary and stem cell-derived human trophoblast organoids as placenta-modeling platforms
Developmental Cell|2024
69 cit.
2
Publication in Journal of Clinical Investigation (2024) [56 citations, W4390579179]
Journal of Clinical Investigation|2024
56 cit.
3
Publication in BJOG An International Journal of Obstetrics & Gynaecology (2024) [6 citations, W4403092713]
BJOG An International Journal of Obstetrics & Gynaecology|2024
6 cit.
4
Publication in PLoS Medicine (2025) [4 citations, W4415933796]
PLoS Medicine|2025
4 cit.
5
Publication in BMJ Open (2025) [3 citations, W4406426657]
BMJ Open|2025
3 cit.
6
Publication in The EMBO Journal (2025) [3 citations, W4414533870]
The EMBO Journal|2025
3 cit.
7
Publication in Prenatal Diagnosis (2024) [2 citations, W4399709170]
Prenatal Diagnosis|2024
2 cit.
8
Publication in Reproductive BioMedicine Online (2024) [W4399033054]
Reproductive BioMedicine Online|2024
0 cit.
9
Publication in Obstetrical & Gynecological Survey (2025) [W4407629154]
Obstetrical & Gynecological Survey|2025
0 cit.
10
Publication in Obstetrical & Gynecological Survey (2025) [W4414221690]
Obstetrical & Gynecological Survey|2025
0 cit.

Emerging Leaders

Drafting the new consensus

Researchers

1
S. Alfarawati
Oxford Fertility
2
Vallari Shukla
University of Southern Denmark
3
Robert Blanshard
University of Sussex
4
Liangpu Xu
Fujian Medical University
5
Jennifer M. Kalish
Children's Hospital of Philadelphia
6
Laïla El Khattabi
Centre National de la Recherche Scientifique
7
Shai Carmi
Hebrew University of Jerusalem
8
Michael P. Douglas
University of California, San Francisco
9
Hongqian Liu
Sichuan University
10
Rajiv C. McCoy
Johns Hopkins University

Papers

1
Sources of gene expression variation in a globally diverse human cohort
Nature|2024
73 cit.
2
Meiotic and mitotic aneuploidies drive arrest of in vitro fertilized human preimplantation embryos
Genome Medicine|2023
68 cit.
3
Digital Methods for Performing Daily Tasks Among Older Adults: An Initial Report of Frequency of Use and Perceived Utility
Experimental Aging Research|2023
19 cit.
4
Molecular networks of hepatoblastoma predisposition and oncogenesis in Beckwith‐Wiedemann syndrome
Hepatology Communications|2022
17 cit.
5
Internet-Enabled Behaviors in Older Adults During the Pandemic: Patterns of Use, Psychosocial Impacts, and Plans for Continued Utilization
Work Aging and Retirement|2022
17 cit.
6
Occurrence of Hepatoblastomas in Patients with Beckwith–Wiedemann Spectrum (BWSp)
Cancers|2023
16 cit.
7
Fetal genetic findings by chromosomal microarray analysis and karyotyping for fetal growth restriction without structural malformations at a territory referral center: 10-year experience
BMC Pregnancy and Childbirth|2023
13 cit.
8
Genetic analysis of chorionic villus tissues in early missed abortions
Scientific Reports|2023
13 cit.
9
A method for low-coverage single-gamete sequence analysis demonstrates adherence to Mendel’s first law across a large sample of human sperm
eLife|2022
12 cit.
10
Update on Surveillance Guidelines in Emerging Wilms Tumor Predisposition Syndromes
Clinical Cancer Research|2024
12 cit.

Current Senior Leaders

Wrote the book, still writing it

Researchers

1
K. H. Nicolaides
Harris Birthright Research Centre for Fetal Medicine
2
Yuk Ming Dennis Lo
Chinese University of Hong Kong
3
Norman Arnheim
University of Southern California
4
James F. Reynolds
Monash University
5
Andrew P. Feinberg
Johns Hopkins University
6
Jacques Cohen
Noble Life Sciences (United States)
7
S. Munné
American Orchid Society
8
Diana W. Bianchi
National Human Genome Research Institute
9
Arthur L. Beaudet
Lunar and Planetary Institute
10
Mary E. D’Alton
Rutgers, The State University of New Jersey

Papers

1
A technique for radiolabeling DNA restriction endonuclease fragments to high specific activity
Analytical Biochemistry|1983
25.2k cit.
2
Enzymatic Amplification of β-Globin Genomic Sequences and Restriction Site Analysis for Diagnosis of Sickle Cell Anemia
Science|1985
9k cit.
3
Presence of fetal DNA in maternal plasma and serum
The Lancet|1997
3.1k cit.
4
Hypomethylation distinguishes genes of some human cancers from their normal counterparts
Nature|1983
2.4k cit.
5
The human colon cancer methylome shows similar hypo- and hypermethylation at conserved tissue-specific CpG island shores
Nature Genetics|2009
2.2k cit.
6
Aspirin versus Placebo in Pregnancies at High Risk for Preterm Preeclampsia
New England Journal of Medicine|2017
2.2k cit.
7
Statistical Ecology: A Primer on Methods and Computing.
Journal of Applied Ecology|1989
2.1k cit.
8
Quantitative Analysis of Fetal DNA in Maternal Plasma and Serum: Implications for Noninvasive Prenatal Diagnosis
The American Journal of Human Genetics|1998
1.7k cit.
9
Male fetal progenitor cells persist in maternal blood for as long as 27 years postpartum.
Proceedings of the National Academy of Sciences|1996
1.3k cit.
10
Differential methylation of tissue- and cancer-specific CpG island shores distinguishes human induced pluripotent stem cells, embryonic stem cells and fibroblasts
Nature Genetics|2009
1.2k cit.

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