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S

Serwet Demirdas

erasmus university
H指数:16
被引数:2,875

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BJOG-AN INTERNATIONAL JOURNAL OF OBSTETRICS AND GYNAECOLOGY
IF4.3
2025-10-010
PRE
van den Bersselaar, Lisa M.; van de Laar, Ingrid M. B. H.; Baars, Marieke J. H.; Baas, Annette; Dulfer, Eelco; Helderman-Van Den Enden, Apollonia T. J. M.; Hilhorst-Hofstee, Yvonne; Kauling, Robert M.; Kempers, Marlies J. E.; Oudijk, Martijn A.; Maugeri, Alessandra; Bruggenwirth, Hennie T.; Houweling, Arjan C.; Demirdas, Serwet
Clinical utility of DNA-methylation signatures in routine diagnostics for neurodevelopmental disorders

DNA甲基化特征在神经发育障碍常规诊断中的临床应用

European Journal of Human Genetics
IF4.6
2025-07-290
PRE
Daphne J. Smits; Christophe Debuy; Alice S. Brooks; Rachel Schot; Federico Ferraro; Dmitrijs Rots; Arjan Bouman; Virginie J. M. Verhoeven; Laura Donker Kaat; Sarina G. Kant; Yolande van Bever; Serwet Demirdas; Shimriet Zeidler; Marieke F. van Dooren; Stephany H. Donze; Lies H. Hoefsloot; Marjon A. van Slegtenhorst; Martina Wilke; Frank Sleutels; Mark Drost; Hennie T. Brüggenwirth; Rick van Minkelen; Anne Goverde; Janna A. Hol; Ingrid M. B. H. van de Laar; Yvette van Ierland; Anneke Kievit; Vyne van der Schoot; Kyra E. Stuurman; Grazia M. S. Mancini; Marja W. Wessels; Tjakko J. van Ham; Tjitske Kleefstra; Tahsin Stefan Barakat
Bi-allelic loss-of-function variants in POC5 cause a syndromic retinal, endocrine and neuromuscular ciliopathy

POC5基因的双等位基因失活突变可导致综合征性视网膜、内分泌和神经肌肉性纤毛病

Genetics in Medicine
IF6.2
2025-06-280
OAAI
Anneke T. Vulto-van Silfhout; Ingrid M. Jazet; Suzanne Yzer; Jeroen Pas; Serwet Demirdas; Elisabeth F.C. van Rossum; Alberta A.H.J. Thiadens; Ronald van Beek; Lonneke Haer-Wigman; Daniela Q.C.M. Barge-Schaapveld; Charlotte Brasch-Andersen; Simon Frost; Miriam Bauwens; Elfride De Baere; Irina Balikova; Filip Van den Broeck; Monika Weisz-Hubshman; Pascal Joset; Peter Miny; Isabel Filges; Susanne Kohl; Pietro De Angeli; Laura Kühlewein; Jan-Philipp Bodenbender; Tobias Haack; Karin Poths; Lidia Fernandez-Caballero; Marta Corton; Fiona Blanco Kelly; Carmen Ayuso; Peggy Martínez-Esteban; John Vissing; Jordi Díaz-Manera; Volker Straub; Ana Töpf; Siying Lin; Gavin Arno; William L. Macken; Jennifer Spillane; Radha Ramachandran; Erik de Vrieze; Tjakko van Ham; Susanne Roosing; Machteld M. Oud
Pregnancy and Delivery Outcomes in Vascular Ehlers-Danlos Syndrome: A Retrospective Multicentre Cohort Study

血管型埃勒斯-当洛斯综合征的妊娠与分娩结局：一项回顾性多中心队列研究

BJOG-AN INTERNATIONAL JOURNAL OF OBSTETRICS AND GYNAECOLOGY
IF4.3
2025-03-191
OAAI
van den Bersselaar, Lisa M.; van de Laar, Ingrid M. B. H.; Baars, Marieke J. H.; Baas, Annette; Dulfer, Eelco; Helderman-van den Enden, Apollonia T. J. M.; Hilhorst-Hofstee, Yvonne; Kauling, Robert M.; Kempers, Marlies J. E.; Oudijk, Martijn A.; Maugeri, Alessandra; Bruggenwirth, Hennie T.; Houweling, Arjan C.; Demirdas, Serwet
Vascular Ehlers-Danlos Syndrome: A Comprehensive Natural History Study in a Dutch National Cohort of 142 Patients
CIRCULATION-GENOMIC AND PRECISION MEDICINE
IF5.5
2024-06-017
OAAI
Demirdas, Serwet; van den Bersselaar, Lisa M.; Lechner, Rosan; Bos, Jessica; Alsters, Suzanne I. M.; Baars, Marieke J. H.; Baas, Annette F.; Baysal, Ozlem; van der Crabben, Saskia N.; Dulfer, Eelco; Giesbertz, Noor A. A.; van den Enden, Apollonia T. J. M.; Hilhorst-Hofstee, Yvonne; Kempers, Marlies J. E.; Komdeur, Fenne L.; Loeys, Bart; Majoor-Krakauer, Danielle; Ockeloen, Charlotte W.; Overwater, Eline; van Tintelen, Peter J.; Voorendt, Marsha; de Waard, Vivian; Maugeri, Alessandra; Bruggenwirth, Hennie T.; van de Laar, Ingrid M. B. H.; Houweling, Arjan C.
Deleterious, protein-altering variants in the transcriptional coregulator ZMYM3 in 27 individuals with a neurodevelopmental delay phenotype
AMERICAN JOURNAL OF HUMAN GENETICS
IF8.1
2023-02-017
OAAI
Hiatt, Susan M.; Trajkova, Slavica; Sebastiano, Matteo Rossi; Partridge, E. Christopher; Abidi, Fatima E.; Anderson, Ashlyn; Ansar, Muhammad; Antonarakis, Stylianos E.; Azadi, Azadeh; Bachmann-Gagescu, Ruxandra; Bartuli, Andrea; Benech, Caroline; Berkowitz, Jennifer L.; Betti, Michael J.; Brusco, Alfredo; Cannon, Ashley; Caron, Giulia; Chen, Yanmin; Cochran, Meagan E.; Coleman, Tanner F.; Crenshaw, Molly M.; Cuisset, Laurence; Curry, Cynthia J.; Darvish, Hossein; Demirdas, Serwet; Descartes, Maria; Douglas, Jessica; Dyment, David A.; Elloumi, Houda Zghal; Ermondi, Giuseppe; Faoucher, Marie; Farrow, Emily G.; Felker, Stephanie A.; Fisher, Heather; Hurst, Anna C. E.; Joset, Pascal; Kelly, Melissa A.; Kmoch, Stanislav; Leadem, Benjamin R.; Lyons, Michael J.; Macchiaiolo, Marina; Magner, Martin; Mandrile, Giorgia; Mattioli, Francesca; McEown, Megan; Meadows, Sarah K.; Medne, Livija; Meeks, Naomi J. L.; Montgomery, Sarah; Napier, Melanie P.; Natowicz, Marvin; Newberry, Kimberly M.; Niceta, Marcello; Noskova, Lenka; Nowak, Catherine B.; Noyes, Amanda G.; Osmond, Matthew; Prijoles, Eloise J.; Pugh, Jada; Pullano, Verdiana; Quelin, Chloe; Rahimi-Aliabadi, Simin; Rauch, Anita; Redon, Sylvia; Reymond, Alexandre; Schwager, Caitlin R.; Sellars, Elizabeth A.; Scheuerle, Angela E.; Shukarova-Angelovska, Elena; Skraban, Cara; Stolerman, Elliot; Sullivan, Bonnie R.; Tartaglia, Marco; Thiffault, Isabelle; Uguen, Kevin; Umana, Luis A.; Bever, Yolande van; Crabben, Saskia N. van der; Slegtenhorst, Marjon A. van; Waisfisz, Quinten; Washington, Camerun; Rodan, Lance H.; Myers, Richard M.; Cooper, Gregory M.
DNA methylation episignature for Witteveen-Kolk syndrome due to SIN3A haploinsufficiency
GENETICS IN MEDICINE
IF6.2
2023-01-017
OAAI
Spek, Jet Coenen-van der; Relator, Raissa; Kerkhof, Jennifer; McConkey, Haley; Levy, Michael A.; Tedder, Matthew L.; Louie, Raymond J.; Fletcher, Robin S.; Moore, Hannah W.; Childers, Anna; Farrelly, Ellyn R.; Champaigne, Neena L.; Lyons, Michael J.; Everman, David B.; Rogers, R. Curtis; Skinner, Steven A.; Renck, Alicia; Matalon, Dena R.; Dills, Shelley K.; Monteleone, Berrin; Demirdas, Serwet; Dingemans, Alexander J. M.; Kaat, Laura Donker; Kolk, Sharon M.; Pfundt, Rolph; Rump, Patrick; Sadikovic, Bekim; Kleefstra, Tjitske; Butler, Kameryn M.
The MAP3K7 gene: Further delineation of clinical characteristics and genotype/phenotype correlations

MAP3K7基因: 临床特征和基因型/表型相关性的进一步描述

HUMAN MUTATION
IF3.7
2022-07-297
OAAI
van Woerden, Geeske M.; Senden, Richelle; de Konink, Charlotte; Trezza, Rossella A.; Baban, Anwar; Bassetti, Jennifer A.; van Bever, Yolande; Bird, Lynne M.; van Bon, Bregje W.; Brooks, Alice S.; Guan, Qiaoning; Klee, Eric W.; Marcelis, Carlo; Rosado, Joel M.; Schimmenti, Lisa A.; Shikany, Amy R.; Terhal, Paulien A.; Weaver, Kathryn Nicole; Wessels, Marja W.; van Wieringen, Hester; Hurst, Anna C.; Gooch, Catherine F.; Steindl, Katharina; Joset, Pascal; Rauch, Anita; Tartaglia, Marco; Niceta, Marcello; Elgersma, Ype; Demirdas, Serwet
Bi-allelic variants in the ER quality-control mannosidase gene EDEM3 cause a congenital disorder of glycosylation
AMERICAN JOURNAL OF HUMAN GENETICS
IF8.1
2021-07-0114
OAAI
Polla, Daniel L.; Edmondson, Andrew C.; Duvet, Sandrine; March, Michael E.; Sousa, Ana Berta; Lehman, Anna; Niyazov, Dmitriy; van Dijk, Fleur; Demirdas, Serwet; van Slegtenhorst, Marjon A.; Kievit, Anneke J. A.; Schulz, Celine; Armstrong, Linlea; Bi, Xin; Rader, Daniel J.; Izumi, Kosuke; Zackai, Elaine H.; de Franco, Elisa; Jorge, Paula; Huffels, Sophie C.; Hommersom, Marina; Ellard, Sian; Lefeber, Dirk J.; Santani, Avni; Hand, Nicholas J.; van Bokhoven, Hans; He, Miao; de Brouwer, Arjan P. M.

研究方向

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H
Hennie T. Brüggenwirth
H 指数:31论文数:117被引数:4,068
A
Annet M. Bosch
H 指数:41论文数:189被引数:6,940
M
Marjon A. van Slegtenhorst
H 指数:31论文数:143被引数:3,176
C
Carla E. M. Hollak
H 指数:78论文数:435被引数:1.9万
M
M. Carola Zillikens
H 指数:84论文数:435被引数:4.1万
F
Francjan J. van Spronsen
H 指数:53论文数:253被引数:1.0万
I
Ingrid M.B.H. van de Laar
H 指数:33论文数:119被引数:4,248
Z
Zografia Zervou
H 指数:3论文数:14被引数:28
A
Alessandra Maugeri
H 指数:25论文数:69被引数:3,144
E
Eelco Dulfer
H 指数:7论文数:18被引数:257