Katrin Õunap - Department of Genetics, United Laboratories, Tartu University Hospital, Tartu, Estonia

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Mutations in EPG5 Are Associated with a Wide Spectrum of Neurodevelopmental and Neurodegenerative Disorders

Hormos Salimi Dafsari,Celine Deneubourg,Kritarth Singh,Reza Maroofian, Zita Suprenant,Ay Lin Kho,Neil J Ingham,Karen P Steel,Preethi Sheshadri, Franciska Baur, Lea Hentrich,Birgit Gerisch,Mina Zamani,Cesar Alves,Ata Siddiqui,Haidar S Dafsari,Mehri Salari,Anthony Lang,Michael Harris,Alice Abdelaleem,Saeid Sadeghian, Reza Azizalamiri,Hamid Galehdari,Gholamreza Shariati,Alireza Sedaghat,Jawaher Zeighami,Daniel Calame,Dana Marafi,Ruizhi Duan, Adrian Boehnke, Carrie Mohila,Dora Steel, Saurabh Chopra,Suvasini Sharma,Nicolai Kohlschmidt,Steffi Patzer,Afshin Saffari,Darius Ebrahimi-Fakhari, Buesra Eser Cavdartepe,Irene J. Chang,Erika Beckman, Renate Peters,Andrew Paul Fennell,Bernice Lo,Luisa Averdunk,Felix Distelmaier,Martina Baethmann,Frances Elmslie, Karit Joost,Sheela Nampoothiri,Dhanya Yesodharan, Hannah Mandel,Amy Kimball,Antonie D. Kline,Cyril Mignot,Boris Keren,Vincent Laugel,Katrin Ounap,Kalpana Devadathan, Frederique M.C. van Berkestijn, Arpana Silwal,Saskia Koene,Sumit Verma,Mohammed Yousuf Karim, Chahynez Boubidi, Majid Aziz,Gehad ElGhazali, Lauren Mattas,Mohammad Miryounesi,Farzad Hashemi-Gorji,Shahryar Alavi,Nayereh Nouri, Mehrdad Noruzinia, Saeedeh Kavousi,Arveen Kamath,Sandeep Jayawant,Russell Saneto,Nourelhoda A. Haridy,Pinar Ozkan Kart,Ali Cansu,Claire Beneteau,Kyra E. Stuurman,Martina Wilke,Tahsin Stefan Barakat,Homa Tajsharghi,Annarita Scardamaglia,Sadeq Vallian,Semra Hiz,Ali Shoeibi,Reza Boostani,Narges Hashemi,Meisam Babaei,Norah Saleh Alsaleh, Julie Lander,Tania Attie-Bitach,Pauline Marzin,Dorota Wicher,Jessica I Gold,Mariana H G Monje,Dimitri Krainc,Niccolo Mencacci,Somayeh Bakhtiari,Michael C Kruer,Emanuela Argilli,Elliott Sherr,Yalda Jamshidi,Ehsan Ghayoor Karimiani,Yiu Wing Sunny Cheung,Ivan Karin,Wendy K. Chung,James R. Lupski,Manju A. Kurian,Joerg Doetsch,Juergen-Christoph von Kleist-Retzow, Thomas Klopstock,Matias Wagner,Calvin K. Yip,Andreas Roos,Carlo Dionisi-Vici,Mathias Gautel,Michael R Duchen, Adam Antebi,Henry Houlden,Manolis Fanto,Heinz Jungbluth

Neuropediatrics NEP 49th Annual Meeting of the Society for Neuropediatrics 2024 (2024)

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Exome Copy Number Variant Detection, Analysis and Classification in a Large Cohort of Families with Undiagnosed Rare Genetic Disease

Gabrielle Lemire,Alba Sanchis-Juan,Kathryn Russell,Samantha Baxter,Katherine R. Chao,Moriel Singer-Berk,Emily Groopman,Isaac Wong,Eleina England,Julia Goodrich,Lynn Pais,Christina Austin-Tse,Stephanie DiTroia,Emily O'Heir,Vijay S. Ganesh,Monica H. Wojcik,Emily Evangelista,Hana Snow,Ikeoluwa Osei-Owusu,Jack Fu, Mugdha Singh,Yulia Mostovoy, Steve Huang,Kiran Garimella,Samantha L. Kirkham,Jennifer E. Neil,Diane D. Shao,Christopher A. Walsh,Emanuela Argilli, Carolyn Le,Elliott H. Sherr,Joseph G. Gleeson,Shirlee Shril,Ronen Schneider,Friedhelm Hildebrandt,Vijay G. Sankaran,Jill A. Madden,Casie A. Genetti,Alan H. Beggs,Pankaj B. Agrawal,Kinga M. Bujakowska,Emily Place,Eric A. Pierce,Sandra Donkervoort,Carsten G. Boennemann,Lyndon Gallacher,Zornitza Stark,Tiong Yang Tan, Susan M. White,Ana Toepf,Volker Straub,Mark D. Fleming,Martin R. Pollak,Katrin Ounap,Sander Pajusalu,Kirsten A. Donald,Zandre Bruwer,Gianina Ravenscroft,Nigel G. Laing,Daniel G. MacArthur,Heidi L. Rehm, Michael E. Talkowski,Harrison Brand,Anne O'Donnell-Luria

AMERICAN JOURNAL OF HUMAN GENETICSno. 5 (2024): 863-876

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Katrin Õunap,Tiia Reimand, Eve Õiglane-Shlik,Sanna Puusepp, Laura Mihkla, Sander Pajusalu,Marco Savarese,Bjarne Udd

Neurology Geneticsno. 6 (2024)

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Genotype/Phenotype Relationship: Lessons from 137 Patients with PMM2-CDG

Sander Pajusalu,Mari-Anne Vals,Mercedes Serrano, Peter Witters,Anna Cechova, Tomas Honzik,Andrew C. Edmondson,Can Ficicioglu, Rita Barone,Pascale De Lonlay,Claire-Marine Berat,Sandrine Vuillaumier-Barrot,Christina Lam,Marc C. Patterson, Mirian C. H. Janssen,Esmeralda Martins,Dulce Quelhas, Jolanta Sykut-Cegielska,Jehan Mousa, Roser Urreizti, Peter Mcwilliams, Frederique Vernhes, Horacio Plotkin,Eva Morava,Katrin Ounap

HUMAN MUTATION（2024）

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Bi-allelic Loss-of-function Variants in WBP4, Encoding a Spliceosome Protein, Result in a Variable Neurodevelopmental Syndrome

Eden Engal,Kaisa Teele Oja,Ophir Geminder,Thuy Linh Le,Naama Elefant, Naama Zvi,Maha Zaki,Joseph Gleeson,Tamar Harel,Orly Elpeleg,Kai Muru,Sander Pajusalu,Monica H. Wojcik,Reza Maroofian,Chris Gordon,Katrin Ounap,Maayan Salton,Hagar Mor-Shaked

EUROPEAN JOURNAL OF HUMAN GENETICS (2024): 9-9

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The Detection of a Strong Episignature for Chung–Jansen Syndrome, Partially Overlapping with Börjeson–Forssman–Lehmann and White–Kernohan Syndromes

Niels Vos,Sadegheh Haghshenas,Liselot van der Laan, Perle K. M. Russel,Kathleen Rooney,Michael A. Levy,Raissa Relator,Jennifer Kerkhof,Haley McConkey,Saskia M. Maas,Lisenka E. L. M. Vissers,Bert B. A. de Vries,Rolph Pfundt,Mariet W. Elting,Johanna M. van Hagen,Nienke E. Verbeek,Marjolijn C. J. Jongmans,Phillis Lakeman,Lynne Rumping,Danielle G. M. Bosch,Antonio Vitobello,Christel Thauvin-Robinet,Laurence Faivre,Sophie Nambot,Aurore Garde,Marjolaine Willems,David Genevieve,Gaël Nicolas,Tiffany Busa,Annick Toutain,Marion Gérard,Varoona Bizaoui,Bertrand Isidor,Giuseppe Merla,Maria Accadia,Charles E. Schwartz,Katrin Ounap,Mariëtte J. V. Hoffer,Marjan M. Nezarati,Marie-José H. van den Boogaard,Matthew L. Tedder,Curtis Rogers,Alfredo Brusco,Giovanni B. Ferrero,Marta Spodenkiewicz,Richard Sidlow,Alessandro Mussa,Slavica Trajkova,Emma McCann,Henry J. Mroczkowski,Sandra Jansen, Laura Donker-Kaat,Floor A. M. Duijkers,Kyra E. Stuurman,Marcel M. A. M. Mannens,Mariëlle Alders,Peter Henneman,Susan M. White,Bekim Sadikovic,Mieke M. van Haelst

Human Geneticspp.1-13, (2024)

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Detecting Missed Diagnoses of Spinal Muscular Atrophy in Genome, Exome, and Panel Sequencing Datasets

medRxiv the preprint server for health sciences (2024)

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