Citation Impact
Citing Papers
Chromosome Abnormalities and Genetic Counseling
2011
Infrared molecular fingerprinting of blood-based liquid biopsies for the detection of cancer
2021 StandoutNobel
Breast-cancer detection using blood-based infrared molecular fingerprints
2021 StandoutNobel
Positive cell-free fetal DNA testing for trisomy 13 reveals confined placental mosaicism
2013
DNA Sequencing versus Standard Prenatal Aneuploidy Screening
2014 Standout
A view on drug resistance in cancer
2019 StandoutNature
Epigenetics and the environment: emerging patterns and implications
2012 Standout
Liquid biopsy enters the clinic — implementation issues and future challenges
2021
Rethinking mechanisms, diagnosis and management of endometriosis
2019 Standout
Cognitive systems for revenge and forgiveness
2012 Standout
Increased frequency of female partner chromosomal abnormalities in patients with high-order implantation failure after in vitro fertilization
2002
Current and future perspectives of liquid biopsies in genomics-driven oncology
2018 Standout
DNA methylation analysis of multiple tissues from newborn twins reveals both genetic and intrauterine components to variation in the human neonatal epigenome
2010
Recurrent implantation failure: definition and management
2013 Standout
Recurrent implantation failure: gamete and embryo factors
2012
Diagnosis of miscarriages by molecular karyotyping: Benefits and pitfalls
2009
Fertility and infertility: Definition and epidemiology
2018 Standout
Liquid biopsies come of age: towards implementation of circulating tumour DNA
2017 Standout
Behavior genetics and postgenomics
2012
Cerebral organoids model human brain development and microcephaly
2013 StandoutNature
Genetics of early miscarriage
2012
Health Supervision for Children With Down Syndrome
2011 Standout
A novel nonsense CDK5RAP2 mutation in a Somali child with primary microcephaly and sensorineural hearing loss
2012
Down syndrome
2020 Standout
ESHRE guideline: recurrent pregnancy loss
2018 Standout
Artificial intelligence in cancer imaging: Clinical challenges and applications
2019 Standout
Sequencing of Circulating Cell-free DNA during Pregnancy
2018
Physiological Aspects of Female Fertility: Role of the Environment, Modern Lifestyle, and Genetics
2016
Works of Mark D. Pertile being referenced
Harmonizing Cell-Free DNA Collection and Processing Practices through Evidence-Based Guidance
2020
Prospective ranking of the sonographic markers for aneuploidy: Data of 2143 prenatal cytogenetic diagnoses referred for abnormalities on ultrasound
2003
Abnormal plasma DNA profiles in early ovarian cancer using a non-invasive prenatal testing platform: implications for cancer screening
2016
Trisomy 16 Mosaicism at Chorionic Villus Sampling and Amniocentesis with a Normal Physical and Intellectual Outcome
2010
High‐throughput analysis of chromosome abnormality in spontaneous miscarriage using an MLPA subtelomere assay with an ancillary FISH test for polyploidy
2006
Unstable Robertsonian translocations der(13;15)(q10;q10): Heritable chromosome fission without phenotypic effect in two kindreds
2005
Pathogenic aberrations revealed exclusively by single nucleotide polymorphism (SNP) genotyping data in 5000 samples tested by molecular karyotyping
2011
Trisomy 13 mosaicism at prenatal diagnosis: dilemmas in interpretation
1998
Methylation of the adenomatous polyposis coli (APC) gene in human placenta and hypermethylation in choriocarcinoma cells
2008
Monozygotic twins with discordant karyotypes: a case report
2004
Health and developmental outcome of children following prenatal diagnosis of confined placental mosaicism
2006
Chromosome translocations in couples with in-vitro fertilization implantation failure
1999
Rare autosomal trisomies, revealed by maternal plasma DNA sequencing, suggest increased risk of feto-placental disease
2017