Chrome Extension
WeChat Mini Program
Use on ChatGLM
VIPCreated with Sketch.
Research Interests

Papers共 99 篇Author StatisticsCo-AuthorSimilar Experts

By YearBy Citation主题筛选期刊级别筛选合作者筛选合作机构筛选
时间
引用量
主题
期刊级别
合作者
合作机构
Long-read Technologies Identify a Hidden LINE-1/ERV1 Insertion in IQCB1 As Causative Variant for Senior-Løken Syndrome
Suzanne E de Bruijn,L Ingeborgh van den Born, Ronny Derks,Lonneke Haer-Wigman, Luke O'Gorman, Frans P M Cremers, Ronald van Beek,Alexander Hoischen,Susanne Roosing,Kornelia Neveling
NPJ genomic medicineno. 1 (2025): 33-33
Cited0Views0WOSNATUREBibtex
0
0
Optical Genome Mapping Enables Accurate Testing of Large Repeat Expansions
Bart van der Sanden,Kornelia Neveling, Syukri Shukor, Michael D Gallagher,Joyce Lee, Stephanie L Burke,Maartje Pennings, Ronald van Beek, Michiel Oorsprong, Ellen Kater-Baats, Eveline Kamping, Alide A Tieleman, Nicol C Voermans,Ingrid E Scheffer,Jozef Gecz,Mark A Corbett,Lisenka E L M Vissers,Andy Wing Chun Pang,Alex Hastie, Erik-Jan Kamsteeg,Alexander Hoischen
Genome researchno. 4 (2025): 810-823
Cited0Views0WOSBibtex
0
0
De Novo and Inherited Dominant Variants in U4 and U6 Snrnas Cause Retinitis Pigmentosa
Mathieu Quinodoz,Kim Rodenburg, Zuzana Cvackova,Karolina Kaminska,Suzanne E de Bruijn, Ana Belén Iglesias-Romero,Erica G M Boonen,Mukhtar Ullah, Nick Zomer,Marc Folcher,Jacques Bijon, Lara K Holtes,Stephen H Tsang,Zelia Corradi,K Bailey Freund, Stefanida Shliaga,Daan M Panneman,Rebekkah J Hitti-Malin,Manir Ali,Ala'a AlTalbishi,Sten Andréasson, Georg Ansari,Gavin Arno,Galuh D N Astuti,Carmen Ayuso,Radha Ayyagari,Sandro Banfi,Eyal Banin,Mirella T S Barboni,Miriam Bauwens,Tamar Ben-Yosef,David G Birch,Pooja Biswas,Fiona Blanco-Kelly,Beatrice Bocquet,Camiel J F Boon,Kari Branham,Alexis Ceecee Britten-Jones,Kinga M Bujakowska,Elizabeth L Cadena,Giacomo Calzetti,Francesca Cancellieri, Luca Cattaneo,Peter Charbel Issa,Naomi Chadderton,Luísa Coutinho-Santos,Stephen P Daiger,Elfride De Baere,Berta de la Cerda,John N De Roach,Julie De Zaeytijd,Ronny Derks,Claire-Marie Dhaenens,Lubica Dudakova,Jacque L Duncan,G Jane Farrar,Nicolas Feltgen,Lidia Fernández-Caballero,Juliana M Ferraz Sallum,Simone Gana,Alejandro Garanto,Jessica C Gardner,Christian Gilissen,Kensuke Goto,Roser Gonzàlez-Duarte,Sam Griffiths-Jones,Tobias B Haack,Lonneke Haer-Wigman,Alison J Hardcastle,Takaaki Hayashi,Elise Héon,Alexander Hoischen, Josephine P Holtan,Carel B Hoyng, Manuel Benjamin B Ibanez,Chris F Inglehearn,Takeshi Iwata,Kaylie Jones,Vasiliki Kalatzis,Smaragda Kamakari,Marianthi Karali,Ulrich Kellner,Krisztina Knézy,Caroline C W Klaver,Robert K Koenekoop,Susanne Kohl,Taro Kominami,Laura Kühlewein,Tina M Lamey, Bart P Leroy,María Pilar Martín-Gutiérrez, Nelson Martins,Laura Mauring,Rina Leibu,Siying Lin,Petra Liskova,Irma Lopez, Victor R de J López-Rodríguez,Omar A Mahroo,Gaël Manes,Martin McKibbin,Terri L McLaren,Isabelle Meunier,Michel Michaelides,José M Millán,Kei Mizobuchi,Rajarshi Mukherjee,Zoltán Zsolt Nagy,Kornelia Neveling,Monika Ołdak,Michiel Oorsprong, Yang Pan, Anastasia Papachristou,Antonio Percesepe,Maximilian Pfau,Eric A Pierce,Emily Place,Raj Ramesar, Florence Andrée Rasquin,Gillian I Rice,Lisa Roberts,María Rodríguez-Hidalgo, Javier Ruiz-Eddera, Ataf H Sabir,Ai Fujita Sajiki,Ana Isabel Sánchez-Barbero, Asodu Sandeep Sarma,Riccardo Sangermano, Cristina M Santos,Margherita Scarpato, Hendrik P N Scholl,Dror Sharon, Sabrina Giovanna Signorini,Francesca Simonelli,Ana Berta Sousa,Maria Stefaniotou,Katarina Stingl,Akiko Suga,Lori S Sullivan,Viktória Szabó,Jacek P Szaflik,Gita Taurina,Carmel Toomes,Viet H Tran,Miltiadis K Tsilimbaris,Pavlina Tsoka,Veronika Vaclavik,Marie Vajter,Sandra Valeina,Enza Maria Valente, Casey Valentine,Rebeca Valero, Joseph van Aerschot,L Ingeborgh van den Born,Andrew R Webster,Laura Whelan,Bernd Wissinger,Georgia G Yioti,Kazutoshi Yoshitake,Juan C Zenteno,Roberta Zeuli,Theresia Zuleger, Chaim Landau, Allan I Jacob,Frans P M Cremers,Winston Lee,Jamie M Ellingford,David Stanek,Carlo Rivolta,Susanne Roosing
medRxiv the preprint server for health sciences (2025)
Cited0Views0WOSBibtex
0
0
Optical Genome Mapping for Applications in Repeat Expansion Disorders
Bart van der Sanden,Kornelia Neveling,Andy Wing Chun Pang, Syukri Shukor, Michael D. Gallagher, Stephanie L. Burke,Erik-Jan Kamsteeg,Alex Hastie,Alexander Hoischen
Current Protocolsno. 7 (2024)
Cited1Views0WOSBibtex
1
0
Load More
Author Statistics

#Papers: 99

#Citation: 6803

H-Index: 39

G-Index: 78

Sociability: 7

Diversity: 3

Activity: 25

  • 合作者
  • 学生
  • 导师
No result temporarily, you can search similar Scholar with the same research interest
Data Disclaimer
The page data are from open Internet sources, cooperative publishers and automatic analysis results through AI technology. We do not make any commitments and guarantees for the validity, accuracy, correctness, reliability, completeness and timeliness of the page data. If you have any questions, please contact us by email: report@aminer.cn