Linda Zuurbier - Publications, H-index & Citations

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Linda Zuurbier

university of amsterdam

19H-index

42Paper Count

1.9KCitation Count

Published Papers 22

Publication Date

Clinical Genetics

IF2.3

2025-11-24

OAAI

Arda Arduç; Linda C. Zuurbier; Merel C. van Maarle; Peter Lauffer; Jonathan I. M. L. Verbeke; Caroline J. Bax; Minke van Tuyl; Ron Hochstenbach; Eva Pajkrt

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Pathogenic UNC13A variants cause a neurodevelopmental syndrome by impairing synaptic function

Nature Genetics

IF29

2025-10-22

OAAI

Reza Asadollahi; Aisha Ahmad; Paranchai Boonsawat; Jasmine Shahanoor Hinzen; Mareike Lohse; Boris Bouazza-Arostegui; Siqi Sun; Tillmann Utesch; Jonas D. Sommer; Dragana Ilic; Murugesh Padmanarayana; Kati Fischermanns; Mrinalini Ranjan; Moritz Boll; Chandran Ka; Amélie Piton; Francesca Mattioli; Bertrand Isidor; Katrin Õunap; Karit Reinson; Monica H. Wojcik; Christian R. Marshall; Saadet Mercimek-Andrews; Naomichi Matsumoto; Noriko Miyake; Bruno de Oliveira Stephan; Rachel Sayuri Honjo; Debora R. Bertola; Chong Ae Kim; Roman Yusupov; Heather C. Mefford; John Christodoulou; Joy Lee; Oliver Heath; Natasha J. Brown; Naomi Baker; Zornitza Stark; Martin Delatycki; Nicole J. Lake; Shimriet Zeidler; Linda Zuurbier; Saskia M. Maas; Chris C. de Kruiff; Farrah Rajabi; Lance H. Rodan; Stephanie A. Coury; Konrad Platzer; Henry Oppermann; Rami Abou Jamra; Skadi Beblo; Caroline Maxton; Robert Śmigiel; Hunter Underhill; Holly Dubbs; Alyssa Rosen; Katherine L. Helbig; Ingo Helbig; Sarah McKeown Ruggiero; Mark P. Fitzgerald; Dennis Kraemer; Carlos E. Prada; Jeffrey Tenney; Parul Jayakar; Sylvia Redon; Jérémie Lefranc; Kevin Uguen; Simone Race; Stephanie Efthymiou; Reza Maroofian; Henry Houlden; Sandra Coppens; Nicolas Deconinck; Balasubramaniem Ashokkumar; Perumal Varalakshmi; Vykunta Raju Gowda K; Fatemeh Eghbal; Ehsan Ghayoor Karimiani; Morteza Heidari; John Neidhardt; Marta Owczarek-Lipska; G. Christoph Korenke; Michael J. Bamshad; Philippe M. Campeau; Anna Lehman; Laura G. Hendon; Ingrid M. Wentzensen; Kristin G. Monaghan; Yanmin Chen; Anna Szuto; Ronald D. Cohn; Ping Yee Billie Au; Christoph Hübner; Felix Boschann; Kandamurugu Manickam; Daniel C. Koboldt; Aboulfazl Rad; Gabriela Oprea; Kristine K. Bachman; Andrea H. Seeley; Emanuele Agolini; Alessandra Terracciano; Piscopo Carmelo; Caleb Bupp; Bethany Grysko; Annick Rein-Rothschild; Bruria Ben Zeev; Amy Margolin; Jennifer Morrison; Aditi Dagli; Elliot Stolerman; Raymond J. Louie; Camerun Washington; Servi J. C. Stevens; Malou Heijligers; Fowzan S. Alkuraya; Jasmin Lisfeld; Axel Neu; Fabíola Paoli Monteiro; André Luiz Santos Pessoa; Antonio Edvan Camelo-Filho; Fernando Kok; Dwight Koeberl; Kacie Riley; Lydie Burglen; Diane Doummar; Bénédicte Héron; Cyril Mignot; Boris Keren; Perrine Charles; Caroline Nava; Felix P. Bernhard; Andrea A. Kühn; Sven Thoms; Ryan D. Morrie; Shila Mekhoubad; Eric M. Green; Sami J. Barmada; Aaron D. Gitler; Olaf Jahn; Jeong Seop Rhee; Christian Rosenmund; Mišo Mitkovski; Heinrich Sticht; Han Sun; Gerald Le Gac; Holger Taschenberger; Nils Brose; Jeremy S. Dittman; Anita Rauch; Noa Lipstein

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A case of lipoprotein glomerulopathy due to the pathogenic APOE Las Vegas variant c.509C > A: p. (Ala170Asp)

JOURNAL OF CLINICAL LIPIDOLOGY

IF4.6

2024-12-01

PREAI

Mulder, Janneke W. C. M.; 't Hart, Naomi; Mulder, Monique T.; Zuurbier, Linda; van Lennep, Jeanine E. Roeters

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LDLR variant classification for improved cardiovascular risk prediction in familial hypercholesterolemia

ATHEROSCLEROSIS

IF5.7

2024-10-01

OAAI

Ibrahim, Shirin; Hartgers, Merel L.; Reeskamp, Laurens F.; Zuurbier, Linda; Defesche, Joep; Kastelein, John J. P.; Stroes, Erik S. G.; Hovingh, G. Kees; Huijgen, Roeland

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PSMD11 loss-of-function variants correlate with a neurobehavioral phenotype, obesity, and increased interferon response

AMERICAN JOURNAL OF HUMAN GENETICS

IF8.1

2024-07-01

OAAI

Deb, Wallid; Rosenfelt, Cory; Vignard, Virginie; Papendorf, Jonas Johannes; Moeller, Sophie; Wendlandt, Martin; Studencka-Turski, Maja; Cogne, Benjamin; Besnard, Thomas; Ruffier, Lea; Toutain, Berenice; Poirier, Lea; Cuinat, Silvestre; Kritzer, Amy; Crunk, Amy; diMonda, Janette; Vengoechea, Jaime; Mercier, Sandra; Kleinendorst, Lotte; van Haelst, Mieke M.; Zuurbier, Linda; Sulem, Telma; Katrinardottir, Hildigunnur; Friariksdottir, Run; Sulem, Patrick; Stefansson, Kari; Jonsdottir, Berglind; Zeidler, Shimriet; Sinnema, Margje; Stegmann, Alexander P. A.; Naveh, Natali; Skraban, Cara M.; Gray, Christopher; Murrell, Jill R.; Isikay, Sedat; Pehlivan, Davut; Calame, Daniel G.; Posey, Jennifer E.; Nizon, Mathilde; McWalter, Kirsty; Lupski, James R.; Isidor, Bertrand; Bolduc, Francois V.; Bezieau, Stephane; Kruger, Elke; Kury, Sebastien; Ebstein, Frederic

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Enhanced identification of familial hypercholesterolemia using central laboratory algorithms

ATHEROSCLEROSIS

IF5.7

2024-06-01

OAAI

Ibrahim, Shirin; Nurmohamed, Nick S.; Nierman, Melchior C.; de Goeij, Jim N.; Zuurbier, Linda; van Rooij, Jeroen; Schonck, Willemijn A. M.; de Vries, Jard; Hovingh, G. Kees; Reeskamp, Laurens F.; Stroes, Erik S. G.

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Low-Cost High-Throughput Genotyping for Diagnosing Familial Hypercholesterolemia

CIRCULATION-GENOMIC AND PRECISION MEDICINE

IF5.5

2023-10-01

OAAI

Ibrahim, Shirin; van Rooij, Jeroen; Verkerk, Annemieke J. M. H.; de Vries, Jard; Zuurbier, Linda; Defesche, Joep; Peter, Jorge; Schonck, Willemijn A. M.; Sedaghati-Khayat, Bahar; Hovingh, G. Kees; Uitterlinden, Andre G.; Stroes, Erik S. G.; Reeskamp, Laurens F.

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Use of Lipoprotein(a) to improve diagnosis and management in clinical familial hypercholesterolemia

ATHEROSCLEROSIS

IF5.7

2023-01-01

OAAI

Tromp, Tycho R.; Ibrahim, Shirin; Nurmohamed, Nick S.; Peter, Jorge; Zuurbier, Linda; Defesche, Joep C.; Reeskamp, Laurens F.; Hovingh, G. Kees; Stroes, Erik S. G.

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Assessment of practical applicability and clinical relevance of a commonly used LDL-C polygenic score in patients with severe hypercholesterolemia

ATHEROSCLEROSIS

IF5.7

2022-01-01

OAAI

Tromp, Tycho R.; Cupido, Arjen J.; Reeskamp, Laurens F.; Stroes, Erik S. G.; Hovingh, G. Kees; Defesche, Joep C.; Schmidt, Amand F.; Zuurbier, Linda

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Intronic variant screening with targeted next-generation sequencing reveals first pseudoexon in LDLR in familial hypercholesterolemia

ATHEROSCLEROSIS

IF5.7

2021-03-01

OAAI

Reeskamp, Laurens F.; Balvers, Manon; Peter, Jorge; van de Kerkhof, Laura; Klaaijsen, Lisette N.; Motazacker, Mahdi M.; Grefhorst, Aldo; van Riel, Natal A. W.; Hovingh, G. Kees; Defesche, Joep C.; Zuurbier, Linda

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Next-generation sequencing to confirm clinical familial hypercholesterolemia

EUROPEAN JOURNAL OF PREVENTIVE CARDIOLOGY

IF7.5

2020-07-28

OAAI

Reeskamp, Laurens F.; Tromp, Tycho R.; Defesche, Joep C.; Grefhorst, Aldo; Stroes, Erik S. G.; Hovingh, G. Kees; Zuurbier, Linda

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Next-generation sequencing to confirm clinical familial hypercholesterolemia

EUROPEAN JOURNAL OF PREVENTIVE CARDIOLOGY

IF7.5

2020-07-27

OAAI

Reeskamp, Laurens F.; Tromp, Tycho R.; Defesche, Joep C.; Grefhorst, Aldo; Stroes, Erik S. G.; Hovingh, G. Kees; Zuurbier, Linda

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ABCG5 and ABCG8 genetic variants in familial hypercholesterolemia

JOURNAL OF CLINICAL LIPIDOLOGY

IF4.6

2020-03-01

PREAI

Reeskamp, Laurens F.; Volta, Andrea; Zuurbier, Linda; Defesche, Joep C.; Hovingh, G. Kees; Grefhorst, Aldo

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ABCG5 AND ABCG8 VARIANTS IN FAMILIAL HYPERCHOLESTEROLEMIA

ATHEROSCLEROSIS

IF5.7

2019-08-01

PREAI

Reeskamp, L.; Volta, A.; Zuurbier, L.; Defesche, J.; Hovingh, G. K.; Grefhorst, A.

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A Deep Intronic Variant in LDLR in Familial Hypercholesterolemia Time to Widen the Scope?

CIRCULATION-GENOMIC AND PRECISION MEDICINE

IF5.5

2018-12-01

OAAI

Reeskamp, Laurens F.; Hartgers, Merel L.; Peter, Jorge; Dallinga-Thie, Geesje M.; Zuurbier, Linda; Defesche, Joep C.; Grefhorst, Aldo; Hovingh, G. Kees

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A DEEP INTRONIC VARIANT IN LDLR CAUSING FAMILIAL HYPERCHOLESTEROLEMIA: TIME TO WIDEN THE SCOPE?

ATHEROSCLEROSIS

IF5.7

2018-08-01

PREAI

Reeskamp, L. F.; Hartgers, M. L.; Peter, J.; Dallinga-Thie, G. M.; Grefhorst, A.; Zuurbier, L. C. A.; Defesche, J. C.; Hovingh, G. K.

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IL-7R: Mutations in T-ALL and polymorphisms in autoimmunity

CYTOKINE

IF3.7

2013-09-01

PREAI

Durum, Scott K.; Li, W. Q.; Zenatti, P.; Ribeiro, D.; Zuurbier, L.; Silva, M. C.; Paganin, M.; Tritapoe, J.; Hixon, J. A.; Silveira, A. B.; Cardoso, B. A.; Sarmento, L. M.; Correia, N.; Toribio, M. L.; Kobarg, J.; Horstmann, M.; Pieters, R.; Brandalise, S. R.; Ferrando, A. A.; Meijerink, J. P.; Yunes, J. A.; Barata, J. T.

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Immature MEF2C-dysregulated T-cell leukemia patients have an early T-cell precursor acute lymphoblastic leukemia gene signature and typically have non-rearranged T-cell receptors

HAEMATOLOGICA

IF7.9

2013-08-23

OAAI

Zuurbier, Linda; Gutierrez, Alejandro; Mullighan, Charles G.; Cante-Barrett, Kirsten; Gevaert, A. Olivier; de Rooi, Johan; Li, Yunlei; Smits, Willem K.; Buijs-Gladdines, Jessica G. C. A. M.; Sonneveld, Edwin; Look, A. Thomas; Horstmann, Martin; Pieters, Rob; Meijerink, Jules P. P.

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Oncogenic IL-7R gain-of-function mutations in childhood T-ALL

CYTOKINE

IF3.7

2012-09-01

OAAI

Durum, S.; Li, W.; Zenatti, P.; Ribeiro, D.; Zuurbier, L.; Silva, M.; Paganin, M.; Tritapoe, J.; Hixon, J.; Silveira, A.; Cardoso, B.; Sarmento, L.; Correia, N.; Toribio, M.; Kobarg, J.; Horstmann, M.; Pieters, R.; Brandalise, S.; Ferrando, A.; Meijerink, J.; Yunes, J.; Barata, J.

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Oncogenic IL7R gain-of-function mutations in childhood T-cell acute lymphoblastic leukemia

NATURE GENETICS

IF31.8

2011-09-04

342

OAAI

Zenatti, Priscila P.; Ribeiro, Daniel; Li, Wenqing; Zuurbier, Linda; Silva, Milene C.; Paganin, Maddalena; Tritapoe, Julia; Hixon, Julie A.; Silveira, Andre B.; Cardoso, Bruno A.; Sarmento, Leonor M.; Correia, Nadia; Toribio, Maria L.; Kobarg, Joerg; Horstmann, Martin; Pieters, Rob; Brandalise, Silvia R.; Ferrando, Adolfo A.; Meijerink, Jules P.; Durum, Scott K.; Yunes, J. Andres; Barata, Joao T.

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Research Directions