Marjon van Slegtenhorst - Erasmus MC, Dept Clin Genet, NL-3000 Rotterdam, Netherlands

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论文共 76 篇作者统计合作学者相似作者

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Genetic Modifiers and Ascertainment Drive Variable Expressivity of Complex Disorders

Matthew Jensen,Corrine Smolen,Anastasia Tyryshkina,Lucilla Pizzo,Deepro Banerjee, Matthew Oetjens,Hermela Shimelis,Cora M Taylor,Vijay Kumar Pounraja,Hyebin Song,Laura Rohan,Emily Huber,Laila El Khattabi,Ingrid van de Laar,Rafik Tadros,Connie Bezzina,Marjon van Slegtenhorst,Janneke Kammeraad,Paolo Prontera,Jean-Hubert Caberg, Harry Fraser, Siddhartha Banka,Anke Van Dijck,Charles Schwartz,Els Voorhoeve,Patrick Callier,Anne-Laure Mosca-Boidron,Nathalie Marle,Mathilde Lefebvre,Kate Pope,Penny Snell,Amber Boys,Paul J Lockhart,Myla Ashfaq,Elizabeth McCready, Margaret Nowacyzk,Lucia Castiglia,Ornella Galesi,Emanuela Avola,Teresa Mattina,Marco Fichera, Maria Grazia Bruccheri,Giuseppa Maria Luana Mandarà,Francesca Mari,Flavia Privitera,Ilaria Longo,Aurora Curró,Alessandra Renieri,Boris Keren,Perrine Charles,Silvestre Cuinat,Mathilde Nizon,Olivier Pichon,Claire Bénéteau,Radka Stoeva,Dominique Martin-Coignard, Sophia Blesson,Cedric Le Caignec,Sandra Mercier,Marie Vincent,Christa Martin,Katrin Mannik,Alexandre Reymond,Laurence Faivre,Erik Sistermans,R Frank Kooy,David J Amor,Corrado Romano,Joris Andrieux,Santhosh Girirajan

medRxiv the preprint server for health sciences (2024)

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TRAPPC6B Biallelic Variants Cause a Neurodevelopmental Disorder with TRAPP II and Trafficking Disruptions

Hashem Almousa,Sara A. Lewis,Somayeh Bakhtiari, Sandra Hinz Nordlie,Alex Pagnozzi,Helen Magee,Stephanie Efthymiou,Jennifer A. Heim,Patricia Cornejo,Maha S. Zaki,Najwa Anwar,Shazia Maqbool,Fatima Rahman,Derek E. Neilson,Anusha Vemuri,Sheng Chih Jin,Xiao-Ru Yang,Abolfazl Heidari,Koen van Gassen,Aurelien Trimouille,Christel Thauvin-Robinet,James Liu,Ange-Line Bruel,Hoda Tomoum,Mennatallah O. Shata,Mais O. Hashem,Mehran Beiraghi Toosi,Ehsan Ghayoor Karimiani,Gozde Yesil,Lokesh Lingappa,Debangana Baruah,Farnoosh Ebrahimzadeh,Julien Van-Gils,Laurence Faivre,Mina Zamani,Hamid Galehdari,Saeid Sadeghian,Gholamreza Shariati, Rahema Mohammad,Jasper van der Smagt,Alya Qari,John B. Vincent,A. Micheil Innes,Ali Dursun,R. Koksal Ozgul,Halil Tuna Akar,Kaya Bilguvar,Cyril Mignot,Boris Keren, Claudia Raveli,Lydie Burglen,Alexandra Afenjar,Laura Donker Kaat,Marjon van Slegtenhorst,Fowzan Alkuraya,Henry Houlden,Sergio Padilla-Lopez,Reza Maroofian,Michael Sacher,Michael C. Kruer

BRAINno. 1 (2024): 311-324

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Confirmation and Expansion of the Phenotype of the TCEAL1-related Neurodevelopmental Disorder

Fatimah Albuainain, Yuwei Shi, Sarah Lor-Zade,Ulrike Hüffmeier, Melissa Pauly,André Reis,Laurence Faivre,Julien Maraval,Ange-Line Bruel,Frédéric Tran Mau Them,Tobias B. Haack,Ute Grasshoff,Veronka Horber,Rachel Schot,Marjon van Slegtenhorst,Martina Wilke,Tahsin Stefan Barakat

European Journal of Human Genetics (2024)

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Hypomagnesaemia with Varying Degrees of Extrarenal Symptoms As a Consequence of Heterozygous CNNM2 Variants

Willem Bosman,Gijs A. C. Franken,Javier de las Heras,Leire Madariaga,Tahsin Stefan Barakat,Rianne Oostenbrink,Marjon van Slegtenhorst,Ana Perdomo-Ramírez,Félix Claverie-Martín,Albertien M. van Eerde,Rosa Vargas-Poussou,Laurence Derain Dubourg, Irene González-Recio,Luis Alfonso Martínez-Cruz,Jeroen H. F. de Baaij,Joost G. J. Hoenderop

Scientific Reportsno. 1 (2024)

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Diagnostic Analysis of RNA Splicing Reclassifies 50% of Candidate Pathogenic Splicing Variants

Mark Drost,Jordy Dekker, Janna A. Hol,Hannie Douben,Peter Elfferich,Esmee Kasteleijn,Leontine M. A. van Unen,Rick van Minkelen,Marjon van Slegtenhorst,Martina Wilke,Lies Hoefsloot,Jasper J. Saris,Yvette Van Ierland,Arjan Bouman,Ingrid M. B. H. van de laar,Grazia Mancini,Marianne Hoogeveen-Westerveld,Mark Nellist,Tjakko Van Ham

EUROPEAN JOURNAL OF HUMAN GENETICS (2024): 64-64

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Etiological Involvement of KCND1 Variants in an X-linked Neurodevelopmental Disorder with Variable Expressivity

Tassja Kalm,Claudia Schob, Hanna Voeller,Thatjana Gardeitchik,Christian Gilissen,Rolph Pfundt,Chiara Kloeckner,Konrad Platzer,Annick Klabunde-Cherwon,Markus Ries,Steffen Syrbe,Francesca Beccaria,Francesca Madia,Marcello Scala,Federico Zara,Floris Hofstede,Marleen E. H. Simon,Richard H. van Jaarsveld,Renske Oegema,Koen L. I. van Gassen,Sjoerd J. B. Holwerda,Tahsin Stefan Barakat,Arjan Bouman,Marjon van Slegtenhorst,Sara Alvarez,Alberto Fernandez-Jaen, Javier Porta,Andrea Accogli,Margherita Maria Mancardi,Pasquale Striano,Michele Iacomino,Jong-Hee Chae,SeSong Jang,Soo Y. Kim,David Chitayat,Saadet Mercimek-Andrews,Christel Depienne,Antje Kampmeier,Alma Kuechler,Harald Surowy,Enrico Silvio Bertini,Francesca Clementina Radio,Cecilia Mancini,Simone Pizzi,Marco Tartaglia, Lucas Gauthier,David Genevieve,Mylene Tharreau,Noy Azoulay, Gal Zaks-Hoffer, Nesia K. Gilad,Naama Orenstein,Genevieve Bernard,Isabelle Thiffault,Jonas Denecke,Theresia Herget,Fanny Kortum,Christian Kubisch,Robert Bahring,Stefan Kindler

The American Journal of Human Geneticsno. 6 (2024): 1206-1221

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Recruitment of Trimeric Eif2 by Phosphatase Non-Catalytic Subunit PPP1R15B

Agnieszka Fatalska,George Hodgson,Stefan M. V. Freund,Sarah L. Maslen,Tomos Morgan,Sigurdur R. Thorkelsson,Marjon van Slegtenhorst,Sonja Lorenz,Antonina Andreeva,Laura Donker Kaat,Anne Bertolotti

MOLECULAR CELLno. 3 (2024)

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Bi-allelic Variants in CELSR3 Are Implicated in Central Nervous System and Urinary Tract Anomalies

Jil D. Stegmann,Jeshurun C. Kalanithy,Gabriel C. Dworschak,Nina Ishorst,Enrico Mingardo,Filipa M. Lopes,Yee Mang Ho,Phillip Grote,Tobias T. Lindenberg,Öznur Yilmaz, Khadija Channab,Steve Seltzsam,Shirlee Shril,Friedhelm Hildebrandt,Felix Boschann,André Heinen,Angad Jolly,Katherine Myers,Kim McBride,Mir Reza Bekheirnia,Nasim Bekheirnia,Marcello Scala,Manuela Morleo,Vincenzo Nigro,Annalaura Torella,Michele Pinelli,Valeria Capra,Andrea Accogli,Silvia Maitz,Alice Spano,Rory J. Olson,Eric W. Klee,Brendan C. Lanpher,Se Song Jang,Jong-Hee Chae,Philipp Steinbauer,Dietmar Rieder,Andreas R. Janecke,Julia Vodopiutz,Ida Vogel,Jenny Blechingberg,Jennifer L. Cohen,Kacie Riley, Victoria Klee,Laurence E. Walsh,Matthias Begemann,Miriam Elbracht,Thomas Eggermann, Arzu Stoppe,Kyra Stuurman,Marjon van Slegtenhorst,Tahsin Stefan Barakat,Maureen S. Mulhern,Tristan T. Sands,Cheryl Cytrynbaum,Rosanna Weksberg,Federica Isidori,Tommaso Pippucci,Giulia Severi,Francesca Montanari,Michael C. Kruer,Somayeh Bakhtiari,Hossein Darvish,Heiko Reutter,Gregor Hagelueken,Matthias Geyer,Adrian S. Woolf,Jennifer E. Posey,James R. Lupski,Benjamin Odermatt,Alina C. Hilger

NPJ GENOMIC MEDICINE（2024）

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Intrafamilial Variability in SLC6A1-related Neurodevelopmental Disorders

Benedetta Kassabian,Christina Duhring Fenger,Marjolaine Willems,Angel Aledo-Serrano,Tarja Linnankivi,Pamela Pojomovsky McDonnell,Laina Lusk, Birgit Susanne Jepsen,Michael Bayat,Anja Kattentidt, Anna Abuli Vidal,Gabriel Valero-Lopez,Helena Alarcon-Martinez,Kimberly Goodspeed,Marjon van Slegtenhorst,Tahsin Stefan Barakat,Rikke S. Moller,Katrine M. Johannesen,Guido Rubboli

FRONTIERS IN NEUROSCIENCE (2023)

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