Essers, Rick; Lebedev, Igor N.; Kurg, Ants; Fonova, Elizaveta A.; Stevens, Servi J. C.; Koeck, Rebekka M.; von Rango, Ulrike; Brandts, Lloyd; Deligiannis, Spyridon Panagiotis; Nikitina, Tatyana V.; Sazhenova, Elena A.; Tolmacheva, Ekaterina N.; Kashevarova, Anna A.; Fedotov, Dmitry A.; Demeneva, Viktoria V.; Zhigalina, Daria I.; Drozdov, Gleb V.; Al-Nasiry, Salwan; Macville, Merryn V. E.; van den Wijngaard, Arthur; Dreesen, Jos; Paulussen, Aimee; Hoischen, Alexander; Brunner, Han G.; Salumets, Andres; Esteki, Masoud Zamani

Experiences of pregnant women with genome-wide non-invasive prenatal testing in a national screening program

EUROPEAN JOURNAL OF HUMAN GENETICS

IF4.6

2022-12-0915

OAAI

Clinical impact of additional findings detected by genome-wide non-invasive prenatal testing: Follow-up results of the TRIDENT-2 study (vol 109, pg 1140, 2022)

AMERICAN JOURNAL OF HUMAN GENETICS

IF8.1

2022-07-010

OAAI

Schuurman, Lisanne van Prooyen; Sistermans, Erik A.; Van Opstal, Diane; Henneman, Lidewij; Bekker, Mireille N.; Bax, Caroline J.; Pieters, Mijntje J.; Bouman, Katelijne; de Munnik, Sonja; den Hollander, Nicolette S.; Diderich, Karin E. M.; Faas, Brigitte H. W.; Feenstra, Ilse; Go, Attie T. J. I.; Hoffer, Brigitte Mariette J. V.; Joosten, Marieke; Komdeur, Fenne L.; Lichtenbelt, Klaske D.; Lombardi, Maria P.; Polak, Marike G.; Jehee, Fernanda S.; Schuring-Blom, Heleen; Stevens, Servi J. C.; Srebniak, Malgorzata I.; Suijkerbuijk, Ron F.; Tan-Sindhunata, Gita M.; van der Meij, Karuna R. M.; van Maarle, Merel C.; Vernimmen, Vivian; van Zelderen-Bhola, Shama L.; van Ravesteyn, Nicolien T.; Knapen, Maarten F. C. M.; Macville, Merryn V. E.; Galjaard, Robert-Jan H.

Clinical impact of additional findings detected by genome-wide non-invasive prenatal testing: Follow-up results of the TRIDENT-2 study

AMERICAN JOURNAL OF HUMAN GENETICS

IF8.1

2022-06-0165

OAAI

Schuurman, Lisanne van Prooyen; Sistermans, Erik A.; Van Opstal, Diane; Henneman, Lidewij; Bekker, Mireille N.; Bax, Caroline J.; Pieters, Mijntje J.; Bouman, Katelijne; de Munnik, Sonja; den Hollander, Nicolette S.; Diderich, Karin E. M.; Faas, Brigitte H. W.; Feenstra, Ilse; Go, Attie T. J., I; Hoffer, Mariette J., V; Joosten, Marieke; Komdeur, Fenne L.; Lichtenbelt, Klaske D.; Lombardi, Maria P.; Polak, Marike G.; Jehee, Fernanda S.; Schuring-Blom, Heleen; Stevens, Servi J. C.; Srebniak, Malgorzata, I; Suijkerbuijk, Ron F.; Tan-Sindhunata, Gita M.; van der Meij, Karuna R. M.; van Maarle, Merel C.; Vernimmen, Vivian; Van Zelderen-Bhola, Shama L.; van Ravesteyn, Nicolien T.; Knapen, Maarten F. C. M.; Macville, Merryn V. E.; Galjaard, Robert-Jan H.

Liquid biopsy: state of reproductive medicine and beyond

HUMAN REPRODUCTION

IF6.1

2021-09-2512

OAAI

Non-invasive prenatal diagnosis for translocation carriers-YES please or NO go?

ACTA OBSTETRICIA ET GYNECOLOGICA SCANDINAVICA

IF3.1

2021-09-012

OAAI

Benefit vs potential harm of genome-wide prenatal cfDNA testing requires further investigation and should not be dismissed based on current data

ULTRASOUND IN OBSTETRICS & GYNECOLOGY

IF6.3

2020-05-016

OAAI

TRIDENT-2: National Implementation of Genome-wide Non-invasive Prenatal Testing as a First-Tier Screening Test in the Netherlands

AMERICAN JOURNAL OF HUMAN GENETICS

IF8.1

2019-12-01251

OAAI

van der Meij, Karuna R. M.; Sistermans, Erik A.; Macville, Merryn V. E.; Stevens, Servi J. C.; Bax, Caroline J.; Bekker, Mireille N.; Bilardo, Caterina M.; Boon, Elles M. J.; Boter, Marjan; Diderich, Karin E. M.; de Die-Smulders, Christine E. M.; Duin, Leonie K.; Faas, Brigitte H. W.; Feenstra, Ilse; Haak, Monique C.; Hoffer, Mariette J. V.; den Hollander, Nicolette S.; Hollink, Iris H. I. M.; Jehee, Fernanda S.; Knapen, Maarten F. C. M.; Kooper, Angelique J. A.; van Langen, Irene M.; Lichtenbelt, Klaske D.; Linskens, Ingeborg H.; van Maarle, Merel C.; Oepkes, Dick; Pieters, Mijntje J.; Schuring-Blom, G. Heleen; Sikkel, Esther; Sikkema-Raddatz, Birgit; Smeets, Dominique F. C. M.; Srebniak, Malgorzata I.; Suijkerbuijk, Ron F.; Tan-Sindhunata, Gita M.; van der Ven, A. Jeanine E. M.; van Zelderen-Bhola, Shama L.; Henneman, Lidewij; Galjaard, Robert-Jan H.; Van Opstal, Diane; Weiss, Marjan M.

Deleterious de novo variants of X-linked ZC4H2 in females cause a variable phenotype with neurogenic arthrogryposis multiplex congenita

HUMAN MUTATION

IF3.7

2019-08-2130

OAAI

Frints, Suzanna G. M.; Hennig, Friederike; Colombo, Roberto; Jacquemont, Sebastien; Terhal, Paulien; Zimmerman, Holly H.; Hunt, David; Mendelsohn, Bryce A.; Kordass, Ulrike; Webster, Richard; Sinnema, Margje; Abdul-Rahman, Omar; Suckow, Vanessa; Fernandez-Jaen, Alberto; van Roozendaal, Kees; Stevens, Servi J. C.; Macville, Merryn V. E.; Al-Nasiry, Salwan; van Gassen, Koen; Utzig, Norbert; Koudijs, Suzanne M.; McGregor, Lesley; Maas, Saskia M.; Baralle, Diana; Dixit, Abhijit; Wieacker, Peter; Lee, Marcus; Lee, Arthur S.; Engle, Elizabeth C.; Houge, Gunnar; Gradek, Gyri A.; Douglas, Andrew G. L.; Longman, Cheryl; Joss, Shelagh; Velasco, Danita; Hennekam, Raoul C.; Hirata, Hiromi; Kalscheuer, Vera M.

Origin and clinical relevance of chromosomal aberrations other than the common trisomies detected by genome-wide NIPS: results of the TRIDENT study

GENETICS IN MEDICINE

IF6.2

2018-05-0185

OAAI

Van Opstal, Diane; van Maarle, Merel C.; Lichtenbelt, Klaske; Weiss, Marjan M.; Schuring-Blom, Heleen; Bhola, Shama L.; Hoffer, Mariette J. V.; Huijsdens-van Amsterdam, Karin; Macville, Merryn V.; Kooper, Angelique J. A.; Faas, Brigitte H. W.; Govaerts, Lutgarde; Tan-Sindhunata, Gita M.; den Hollander, Nicolette; Feenstra, Ilse; Galjaard, Robert-Jan H.; Oepkes, Dick; Ghesquiere, Stijn; Brouwer, Rutger W. W.; Beulen, Lean; Bollen, Sander; Elferink, Martin G.; Straver, Roy; Henneman, Lidewij; Page-Christiaens, Godelieve C.; Sistermans, Erik A.

Cell-Free RNA Is a Reliable Fetoplacental Marker in Noninvasive Fetal Sex Determination

CLINICAL CHEMISTRY

IF6.3

2015-12-019

OAAI

Absence of Heterozygosity Due to Template Switching during Replicative Rearrangements

复制重排过程中由于模板转换而导致的杂合性缺失

AMERICAN JOURNAL OF HUMAN GENETICS

IF8.1

2015-04-0145

OAAI

Intrachromosomal homologous recombination between inverted amplicons on opposing Y-chromosome arms