Karin E. M. Diderich

3.3k citations

60 papers · 1.6k indexed · h-index 21

Impact in

Aging top 5%
Pediatrics, Perinatology and Child Health top 2%
- Prenatal Screening and Diagnostics
- Fetal and Pediatric Neurological Disorders

Papers in

Pediatrics, Perinatology and Child Health 35
- Prenatal Screening and Diagnostics 34
- Fetal and Pediatric Neurological Disorders 18
Genetics 34
- Genomic variations and chromosomal abnormalities 22
- Genomics and Rare Diseases 7
- Genetics and Neurodevelopmental Disorders 5

Co-authors: Peter Fraser Roberta Calzolari Joost Gribnau Jan H.J. Hoeijmakers Malgorzata I. Srebniak Diane Van Opstal Marieke Joosten Maarten F. C. M. Knapen
Journals: Prenatal Diagnosis (10 papers)Molecular Cytogenetics (5 papers)Clinical Genetics (4 papers)European Journal of Human Genetics (3 papers)DNA repair (2 papers)
Partner nations: Netherlands United States United Kingdom

In The Last Decade

Karin E. M. Diderich

54 papers receiving 1.5k citations

Peers

Countries citing papers authored by Karin E. M. Diderich

Since Specialization

Citations

This map shows the geographic impact of Karin E. M. Diderich's research. It shows the number of citations coming from papers published by authors working in each country. You can also color the map by specialization and compare the number of citations received by Karin E. M. Diderich with the expected number of citations based on a country's size and research output (numbers larger than one mean the country cites Karin E. M. Diderich more than expected).

Fields of papers citing papers by Karin E. M. Diderich

Since Specialization

Physical SciencesHealth SciencesLife SciencesSocial Sciences

This network shows the impact of papers produced by Karin E. M. Diderich. Nodes represent research fields, and links connect fields that are likely to share authors. Colored nodes show fields that tend to cite the papers produced by Karin E. M. Diderich. The network helps show where Karin E. M. Diderich may publish in the future.

Co-authorship network

The 25 scholars most cited alongside Karin E. M. Diderich, linked wherever they have co-authored with each other. Click a name or a connecting line to browse the papers they share.

Border = papers with Karin E. M. Diderich Line = papers co-authored together Karin E. M. Diderich links everyone, so they are left out of the graph.

All Works

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20 of 20 papers shown

#	Work
1	Significance of incidental copy number variants in the Duchenne muscular dystrophy gene Neuromuscular Disorders ·Ieke B. Ginjaar, Marjolein Kriek, Harvey Weiner, Renske Oegema, Ellen van Binsbergen, Karin E. M. Diderich, Laura J. C. M. van Zutven, Floor A.M. Duijkers, Alida C. Knegt, Corrie E. Erasmus, David Musonda Masupa, Joanne Verheij, Trijnie Dijkhuizen, Hermine A. van Duyvenvoorde	2025	0
2	Prenatal Variants of Uncertain Significance (VUS): to report or not to report? European Journal of Human Genetics ·艮男西田, Malgorzata I. Srebniak, A F MICHAILICHENCO, Donald R. Hahn, Karin E. M. Diderich, Hennie T. Brüggenwirth, Gijs W.E. Santen, Mariëtte J.V. Hoffer, Manon Suerink	2025	0
3	Re‐analysis of whole genome sequencing ends a diagnostic odyssey: Case report of an RNU4‐2 related neurodevelopmental disorder Clinical Genetics ·Rachel Schot, 上村民子, Geert Geeven, Karin E. M. Diderich, Tahsin Stefan Barakat	2024	11
4	The role of confined placental mosaicism in fetal growth restriction: A retrospective cohort study Prenatal Diagnosis ·Alex Stana, Attie T. J. I. Go, Zhang Yu, Mariëtte J.V. Hoffer, Monique C. Haak, B. Fischer, Karin E. M. Diderich, Marieke Joosten, Myrthe van den Born, Malgorzata I. Srebniak, Diane Van Opstal	2024	10
5	Confined placental mosaicism: Distribution of chromosomally abnormal cells over the term placenta Placenta ·Alex Stana, Suzanne van Veen, Open Culture, Attie T. J. I. Go, Karin E. M. Diderich, Marieke Joosten, Myrthe van den Born, Malgorzata I. Srebniak, Diane Van Opstal	2024	3
6	The role of a multidisciplinary team in managing variants of uncertain clinical significance in prenatal genetic diagnosis European Journal of Medical Genetics ·Karin E. M. Diderich, Garima Gupta, Vyne van der Schoot, Myrthe van den Born, Martina Wilke, Marieke Joosten, Kyra E. Stuurman, Lies H. Hoefsloot, Diane Van Opstal, Hennie T. Brüggenwirth, Malgorzata I. Srebniak	2023	6
7	Limited additional value of karyotyping cultured amniotic fluid cell colonies in addition to microarray on uncultured cells for confirmation of abnormal non‐invasive prenatal testing results Prenatal Diagnosis ·Stephany Donze, Malgorzata I. Srebniak, Karin E. M. Diderich, Myrthe van den Born, Robert‐Jan H. Galjaard, Lutgarde Govaerts, Vyne van der Schoot, Maarten F. C. M. Knapen, Marieke Joosten, Diane Van Opstal	2023	2
8	Challenges and Pragmatic Solutions in Pre-Test and Post-Test Genetic Counseling for Prenatal Exome Sequencing The Application of Clinical Genetics ·Karin E. M. Diderich, Garima Gupta, Vyne van der Schoot, Hennie T. Brüggenwirth, Marieke Joosten, Malgorzata I. Srebniak	2023	1
9	Pathogenic variants in CLXN encoding the outer dynein arm docking–associated calcium-binding protein calaxin cause primary ciliary dyskinesia Genetics in Medicine ·Rim Hjeij, Isabella Aprea, Marco Poeta, Tabea Nöthe-Menchen, 旅人早田, Johanna Raidt, 竜一松下, Gerard W. Dougherty, Heike Olbrich, Oliver Schwartz, Ulrike Keller, Harald Nüsse, Karin E. M. Diderich, Christian Vogelberg, Francesca Santamaria, Heymut Omran	2023	6
10	De novo missense variants in ZBTB47 are associated with developmental delays, hypotonia, seizures, gait abnormalities, and variable movement abnormalities American Journal of Medical Genetics Part A ·Scott Ward, Muhammad Ripai, Миляков Денис Александрович, Paul J. Benke, Lisa Emrick, Kristen Fisher, Joanne Blackwood, Hongzheng Dai, (unknown), María J. Guillen Sacoto, Adelaide Maame Akua Boadi, А. В. Яресько, David R. Murdock, Luis Rohena, Karin E. M. Diderich, Hennie T. Brüggenwirth, Brendan Lee, Carlos A. Bacino, Lindsay C. Burrage, Jill A. Rosenfeld	2023	0
11	What proportion of couples with a history of recurrent pregnancy loss and with a balanced rearrangement in one parent can potentially be identified through cell-free DNA genotyping? Molecular Cytogenetics ·Laura J. C. M. van Zutven, 正剛米, Xiancai Li, 泰司西村, Marike Polak, Maarten F. C. M. Knapen, Sabina de Weerd, Marieke Joosten, Karin E. M. Diderich, Lies H. Hoefsloot, Diane Van Opstal, Malgorzata I. Srebniak	2023	1
12	How to deal with uncertainty in prenatal genomics: A systematic review of guidelines and policies Clinical Genetics ·Garima Gupta, Malgorzata I. Srebniak, Attie T. J. I. Go, Lutgarde Govaerts, Celine Lewis, Jennifer Hammond, Melissa Hill, Stina Lou, Ida Vogel, Kelly E. Ormond, Karin E. M. Diderich, Hennie T. Brüggenwirth, Sam Riedijk	2021	19
13	The broader phenotypic spectrum of congenital caudal abnormalities associated with mutations in the caudal type homeobox 2 gene Clinical Genetics ·Servi J.C. Stevens, Constance T. R. M. Stumpel, Karin E. M. Diderich, Marjon A. van Slegtenhorst, Mary‐Alice Abbott, O.O. Pilіarska, Jorune Balciuniene, Louise C. Pyle, Jacqueline Leonard, Jill R. Murrell, Ni Ketut Wiryadi, Iris A.L.M. van Rooij, Alexander Hoischen, Paul Lasko, Han G. Brunner	2021	6
14	Patient-friendly integrated first trimester screening by NIPT and fetal anomaly scan Molecular Cytogenetics ·Malgorzata I. Srebniak, Maarten F. C. M. Knapen, Marieke Joosten, Karin E. M. Diderich, Sander Galjaard, Diane Van Opstal	2021	3
15	The influence of SNP-based chromosomal microarray and NIPT on the diagnostic yield in 10,000 fetuses with and without fetal ultrasound anomalies Human Mutation ·Malgorzata I. Srebniak, Maarten F. C. M. Knapen, Marike Polak, Marieke Joosten, Karin E. M. Diderich, Lutgarde Govaerts, Marjan Boter, Liu Xiaotian, Michael Beadle, Randall Williams, Wilfred F. J. van IJcken, R. Heydanus, Anneke Dijkman, Xuyang Liao, Femke A.T. de Vries, Jeroen Knijnenburg, Attie T. J. I. Go, Robert‐Jan H. Galjaard, Diane Van Opstal	2017	18
16	Enlarged NT (≥3.5 mm) in the first trimester – not all chromosome aberrations can be detected by NIPT Molecular Cytogenetics ·Malgorzata I. Srebniak, Rüdiger Hartmann, Karin E. M. Diderich, Lutgarde Govaerts, Marieke Joosten, Maarten F. C. M. Knapen, 王亚敏 WANG Ya-min, Anna Beth Ferguson, P. Bregani, Attie T. J. I. Go, R. J. H. Galjaard, Diane Van Opstal	2016	30
17	Interstitial 6q21q23 duplication - variant of variable phenotype and incomplete penetrance or benign duplication? Molecular Cytogenetics ·Malgorzata I. Srebniak, Laura J. C. M. van Zutven, Florence Petit, Sonia Bouquillon, 窪田賢輔, Maarten F. C. M. Knapen, Jérôme Cornette, Andreas Kremer, Diane Van Opstal, Karin E. M. Diderich	2016	3
18	Genomic SNP array as a gold standard for prenatal diagnosis of foetal ultrasound abnormalities Molecular Cytogenetics ·Malgorzata I. Srebniak, Marjan Boter, Grétel Oudesluijs, Titia E. Cohen‐Overbeek, Lutgarde Govaerts, Karin E. M. Diderich, Renske Oegema, Maarten F. C. M. Knapen, Ingrid M.B.H. van de Laar, Marieke Joosten, Diane Van Opstal, Robert‐Jan H. Galjaard	2012	55
19	Phenotypic variability of atypical 22q11.2 deletions not includingTBX1 American Journal of Medical Genetics Part A ·Judith M.A. Verhagen, Karin E. M. Diderich, Grétel Oudesluijs, Grazia M.S. Mancini, Alex J. Eggink, Anna C. Verkleij‐Hagoort, Irene A.L. Groenenberg, Patrick J. Willems, Evangelia Doulka, de Man, Malgorzata I. Srebniak, Diane Van Opstal, Lorette O. M. Hulsman, Laura J. C. M. van Zutven, Marja W. Wessels	2012	42
20	Impaired Genome Maintenance Suppresses the Growth Hormone–Insulin-Like Growth Factor 1 Axis in Mice with Cockayne Syndrome PLoS Biology ·Ingrid van der Pluijm, George A. Garinis, Renata M. C. Brandt, Theo G. M. F. Gorgels, S. Wijnhoven, Karin E. M. Diderich, Jan de Wit, James R. Mitchell, Conny van Oostrom, Rudolf B. Beems, Laura J. Niedernhofer, Susana Velasco, Errol C. Friedberg, Kiyoji Tanaka, Harry van Steeg, Jan H.J. Hoeijmakers, Gijsbertus T. J. van der Horst	2006	195

About Karin E. M. Diderich

Karin E. M. Diderich is a scholar working on Pediatrics, Perinatology and Child Health, Genetics, Aging, Developmental Biology and Infectious Diseases, having authored 60 papers that have together received 1.6k indexed citations. Recurring topics across this work include Prenatal Screening and Diagnostics (34 papers), Genomic variations and chromosomal abnormalities (22 papers), Fetal and Pediatric Neurological Disorders (18 papers), Genomics and Rare Diseases (7 papers), Parvovirus B19 Infection Studies (7 papers), DNA Repair Mechanisms (6 papers), Congenital heart defects research (6 papers) and Genetics and Neurodevelopmental Disorders (5 papers). The work is most often cited by research in Aging (79 citations), Pediatrics, Perinatology and Child Health (560 citations), Genetics (563 citations), Molecular Biology (822 citations) and Cancer Research (142 citations). Karin E. M. Diderich has collaborated with scholars based in Netherlands, United States and United Kingdom. Frequent co-authors include Peter Fraser, Roberta Calzolari, Joost Gribnau, Jan H.J. Hoeijmakers, Malgorzata I. Srebniak, Diane Van Opstal, Marieke Joosten, Maarten F. C. M. Knapen, Lutgarde Govaerts and Gijsbertus T. J. van der Horst. Their work appears in journals such as Prenatal Diagnosis, Molecular Cytogenetics, Clinical Genetics, European Journal of Human Genetics and DNA repair.

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