Katrin Õunap

ResearcherID ORCID

Publication Activity (10 Years)

Years Active: 2019-2024
Publications (10 Years): 40

Top Venues

Science advances

Nature

medRxiv : the preprint server for health sciences

Molecular genetics & genomic medicine

This page only lists publications with an associated author ORCID identifier.

Publications

Violetta Karwacki-Neisius, Ahram Jang, Engin Cukuroglu, Albert K Tai, Alan Jiao, Danilo Predes, Joon Yoon, Emily Brookes, Jie-Kai Chen, Aimee Iberg, Florian Halbritter, Katrin Õunap, Jozef Gecz, Thorsten M Schlaeger, Shannan Ho Sui, Jonathan Goke, Xi He, Maria K Lehtinen, Scott L Pomeroy, Yang Shi
WNT signalling control by KDM5C during development affects cognition. Nature (2024)
Dmitrijs Rots, Kathleen Rooney, Raissa Relator, Jennifer Kerkhof, Haley McConkey, Rolph Pfundt, Carlo Marcelis, Marjolein H Willemsen, Johanna M van Hagen, Petra Zwijnenburg, Marielle Alders, Katrin Õunap, Tiia Reimand, Olga Fjodorova, Siren Berland, Eva Benedicte Liahjell, Ognjen Bojovic, Marjolein Kriek, Claudia Ruivenkamp, Maria Teresa Bonati, Han G Brunner, Lisenka E L M Vissers, Bekim Sadikovic, Tjitske Kleefstra
Refining the 9q34.3 microduplication syndrome reveals mild neurodevelopmental features associated with a distinct global DNA methylation profile. Clinical genetics (2024)
Violetta Karwacki-Neisius, Ahram Jang, Engin Cukuroglu, Albert K Tai, Alan Jiao, Danilo Predes, Joon Yoon, Emily Brookes, Jie-Kai Chen, Aimee Iberg, Florian Halbritter, Katrin Õunap, Jozef Gecz, Thorsten M Schlaeger, Shannan Ho Sui, Jonathan Goke, Xi He, Maria K Lehtinen, Scott L Pomeroy, Yang Shi
WNT signalling control by KDM5C during development affects cognition. Nature (2024)
Violetta Karwacki-Neisius, Ahram Jang, Engin Cukuroglu, Albert K Tai, Alan Jiao, Danilo Predes, Joon Yoon, Emily Brookes, Jie-Kai Chen, Aimee Iberg, Florian Halbritter, Katrin Õunap, Jozef Gecz, Thorsten M Schlaeger, Shannan Ho Sui, Jonathan Goke, Xi He, Maria K Lehtinen, Scott L Pomeroy, Yang Shi
WNT signalling control by KDM5C during development affects cognition. Nature 627 (8004) (2024)
Dmitrijs Rots, Kathleen Rooney, Raissa Relator, Jennifer Kerkhof, Haley McConkey, Rolph Pfundt, Carlo Marcelis, Marjolein H Willemsen, Johanna M van Hagen, Petra Zwijnenburg, Marielle Alders, Katrin Õunap, Tiia Reimand, Olga Fjodorova, Siren Berland, Eva Benedicte Liahjell, Ognjen Bojovic, Marjolein Kriek, Claudia Ruivenkamp, Maria Teresa Bonati, Han G Brunner, Lisenka E L M Vissers, Bekim Sadikovic, Tjitske Kleefstra
Refining the 9q34.3 microduplication syndrome reveals mild neurodevelopmental features associated with a distinct global DNA methylation profile. Clinical genetics 105 (6) (2024)
Violetta Karwacki-Neisius, Ahram Jang, Engin Cukuroglu, Albert K Tai, Alan Jiao, Danilo Predes, Joon Yoon, Emily Brookes, Jie-Kai Chen, Aimee Iberg, Florian Halbritter, Katrin Õunap, Jozef Gecz, Thorsten M Schlaeger, Shannan Ho Sui, Jonathan Goke, Xi He, Maria K Lehtinen, Scott L Pomeroy, Yang Shi
WNT signalling control by KDM5C during development affects cognition. Nature 627 (8004) (2024)
Violetta Karwacki-Neisius, Ahram Jang, Engin Cukuroglu, Albert K Tai, Alan Jiao, Danilo Predes, Joon Yoon, Emily Brookes, Jie-Kai Chen, Aimee Iberg, Florian Halbritter, Katrin Õunap, Jozef Gecz, Thorsten M Schlaeger, Shannan Ho Sui, Jonathan Goke, Xi He, Maria K Lehtinen, Scott L Pomeroy, Yang Shi
WNT signalling control by KDM5C during development affects cognition. Nature 627 (8004) (2024)
Violetta Karwacki-Neisius, Ahram Jang, Engin Cukuroglu, Albert K Tai, Alan Jiao, Danilo Predes, Joon Yoon, Emily Brookes, Jie-Kai Chen, Aimee Iberg, Florian Halbritter, Katrin Õunap, Jozef Gecz, Thorsten M Schlaeger, Shannan Ho Sui, Jonathan Goke, Xi He, Maria K Lehtinen, Scott L Pomeroy, Yang Shi
WNT signalling control by KDM5C during development affects cognition. Nature 627 (8004) (2024)
Violetta Karwacki-Neisius, Ahram Jang, Engin Cukuroglu, Albert K Tai, Alan Jiao, Danilo Predes, Joon Yoon, Emily Brookes, Jie-Kai Chen, Aimee Iberg, Florian Halbritter, Katrin Õunap, Jozef Gecz, Thorsten M Schlaeger, Shannan Ho Sui, Jonathan Goke, Xi He, Maria K Lehtinen, Scott L Pomeroy, Yang Shi
WNT signalling control by KDM5C during development affects cognition. Nature 627 (8004) (2024)
Nicola de Prisco, Caitlin Ford, Nathan D Elrod, Winston Lee, Lauren C Tang, Kai-Lieh Huang, Ai Lin, Ping Ji, Venkata S Jonnakuti, Lia Boyle, Maximilian Cabaj, Salvatore Botta, Katrin Õunap, Karit Reinson, Monica Hsiung Wojcik, Jill Anne Rosenfeld, Weimin Bi, Kristian Tveten, Trine Prescott, Thorsten Gerstner, Audrey Schroeder, Chin-To Fong, Jaya K George-Abraham, Catherine A Buchanan, Andrea Hanson-Kahn, Jonathan A Bernstein, Aikaterini A Nella, Wendy K Chung, Vicky L Brandt, Marko Jovanovic, Kimara L Targoff, Hari Krishna Yalamanchili, Eric J Wagner, Vincenzo A Gennarino
Alternative polyadenylation alters protein dosage by switching between intronic and 3'UTR sites. Science advances 9 (7) (2023)
Nicola de Prisco, Caitlin Ford, Nathan D Elrod, Winston Lee, Lauren C Tang, Kai-Lieh Huang, Ai Lin, Ping Ji, Venkata S Jonnakuti, Lia Boyle, Maximilian Cabaj, Salvatore Botta, Katrin Õunap, Karit Reinson, Monica Hsiung Wojcik, Jill Anne Rosenfeld, Weimin Bi, Kristian Tveten, Trine Prescott, Thorsten Gerstner, Audrey Schroeder, Chin-To Fong, Jaya K George-Abraham, Catherine A Buchanan, Andrea Hanson-Kahn, Jonathan A Bernstein, Aikaterini A Nella, Wendy K Chung, Vicky L Brandt, Marko Jovanovic, Kimara L Targoff, Hari Krishna Yalamanchili, Eric J Wagner, Vincenzo A Gennarino
Alternative polyadenylation alters protein dosage by switching between intronic and 3'UTR sites. Science advances 9 (7) (2023)
Nicola de Prisco, Caitlin Ford, Nathan D Elrod, Winston Lee, Lauren C Tang, Kai-Lieh Huang, Ai Lin, Ping Ji, Venkata S Jonnakuti, Lia Boyle, Maximilian Cabaj, Salvatore Botta, Katrin Õunap, Karit Reinson, Monica Hsiung Wojcik, Jill Anne Rosenfeld, Weimin Bi, Kristian Tveten, Trine Prescott, Thorsten Gerstner, Audrey Schroeder, Chin-To Fong, Jaya K George-Abraham, Catherine A Buchanan, Andrea Hanson-Kahn, Jonathan A Bernstein, Aikaterini A Nella, Wendy K Chung, Vicky L Brandt, Marko Jovanovic, Kimara L Targoff, Hari Krishna Yalamanchili, Eric J Wagner, Vincenzo A Gennarino
Alternative polyadenylation alters protein dosage by switching between intronic and 3'UTR sites. Science advances 9 (7) (2023)
Monica Hsiung Wojcik, Gabrielle Lemire, Maha S Zaki, Mariel Wissman, Wathone Win, Sue White, Ben Weisburd, Leigh B Waddell, Jeffrey M Verboon, Grace E VanNoy, Ana Töpf, Tiong Yang Tan, Volker Straub, Sarah L Stenton, Hana Snow, Moriel Singer-Berk, Josh Silver, Shirlee Shril, Eleanor G Seaby, Ronen Schneider, Vijay G Sankaran, Alba Sanchis-Juan, Kathryn A Russell, Karit Reinson, Gianina Ravenscroft, Eric A Pierce, Emily M Place, Sander Pajusalu, Lynn Pais, Katrin Õunap, Ikeoluwa Osei-Owusu, Volkan Okur, Kaisa Teele Oja, Melanie O'Leary, Emily O'Heir, Chantal Morel, Rhett G Marchant, Brian E Mangilog, Jill A Madden, Daniel MacArthur, Alysia Lovgren, Jordan P Lerner-Ellis, Jasmine Lin, Nigel Laing, Friedhelm Hildebrandt, Emily Groopman, Julia Goodrich, Joseph G Gleeson, Roula Ghaoui, Casie A Genetti, Hanna T Gazda, Vijay S Ganesh, Mythily Ganapathy, Lyndon Gallacher, Jack Fu, Emily Evangelista, Eleina England, Sandra Donkervoort, Stephanie DiTroia, Sandra T Cooper, Wendy K Chung, John Chrisodoulou, Katherine R Chao, Liam D Cato, Kinga M Bujakowska, Samantha J Bryen, Harrison Brand, Carsten Bonnemann, Alan H Beggs, Samantha M Baxter, Pankaj B Agrawal, Michael Talkowski, Chrissy Austin-Tse, Heidi L Rehm, Anne O'Donnell-Luria
Unique Capabilities of Genome Sequencing for Rare Disease Diagnosis. medRxiv : the preprint server for health sciences (2023)
Laura Roht, Piret Laidre, Mikk Tooming, Neeme Tõnisson, Margit Nõukas, Miriam Nurm, null Estonian Biobank Research Team, Hanno Roomere, Kadri Rekker, Kadri Toome, Olga Fjodorova, Ülle Murumets, Ustina Šamarina, Sander Pajusalu, Anu Aaspõllu, Liis Salumäe, Kristina Muhu, Jaan Soplepmann, Katrin Õunap, Tiina Kahre
The Prevalence and Molecular Landscape of Lynch Syndrome in the Affected and General Population. Cancers 15 (14) (2023)
Nicola de Prisco, Caitlin Ford, Nathan D Elrod, Winston Lee, Lauren C Tang, Kai-Lieh Huang, Ai Lin, Ping Ji, Venkata S Jonnakuti, Lia Boyle, Maximilian Cabaj, Salvatore Botta, Katrin Õunap, Karit Reinson, Monica Hsiung Wojcik, Jill Anne Rosenfeld, Weimin Bi, Kristian Tveten, Trine Prescott, Thorsten Gerstner, Audrey Schroeder, Chin-To Fong, Jaya K George-Abraham, Catherine A Buchanan, Andrea Hanson-Kahn, Jonathan A Bernstein, Aikaterini A Nella, Wendy K Chung, Vicky L Brandt, Marko Jovanovic, Kimara L Targoff, Hari Krishna Yalamanchili, Eric J Wagner, Vincenzo A Gennarino
Alternative polyadenylation alters protein dosage by switching between intronic and 3'UTR sites. Science advances 9 (7) (2023)
Nicola de Prisco, Caitlin Ford, Nathan D Elrod, Winston Lee, Lauren C Tang, Kai-Lieh Huang, Ai Lin, Ping Ji, Venkata S Jonnakuti, Lia Boyle, Maximilian Cabaj, Salvatore Botta, Katrin Õunap, Karit Reinson, Monica Hsiung Wojcik, Jill Anne Rosenfeld, Weimin Bi, Kristian Tveten, Trine Prescott, Thorsten Gerstner, Audrey Schroeder, Chin-To Fong, Jaya K George-Abraham, Catherine A Buchanan, Andrea Hanson-Kahn, Jonathan A Bernstein, Aikaterini A Nella, Wendy K Chung, Vicky L Brandt, Marko Jovanovic, Kimara L Targoff, Hari Krishna Yalamanchili, Eric J Wagner, Vincenzo A Gennarino
Alternative polyadenylation alters protein dosage by switching between intronic and 3'UTR sites. Science advances 9 (7) (2023)
Monica Hsiung Wojcik, Gabrielle Lemire, Maha S Zaki, Mariel Wissman, Wathone Win, Sue White, Ben Weisburd, Leigh B Waddell, Jeffrey M Verboon, Grace E VanNoy, Ana Töpf, Tiong Yang Tan, Volker Straub, Sarah L Stenton, Hana Snow, Moriel Singer-Berk, Josh Silver, Shirlee Shril, Eleanor G Seaby, Ronen Schneider, Vijay G Sankaran, Alba Sanchis-Juan, Kathryn A Russell, Karit Reinson, Gianina Ravenscroft, Eric A Pierce, Emily M Place, Sander Pajusalu, Lynn Pais, Katrin Õunap, Ikeoluwa Osei-Owusu, Volkan Okur, Kaisa Teele Oja, Melanie O'Leary, Emily O'Heir, Chantal Morel, Rhett G Marchant, Brian E Mangilog, Jill A Madden, Daniel MacArthur, Alysia Lovgren, Jordan P Lerner-Ellis, Jasmine Lin, Nigel Laing, Friedhelm Hildebrandt, Emily Groopman, Julia Goodrich, Joseph G Gleeson, Roula Ghaoui, Casie A Genetti, Hanna T Gazda, Vijay S Ganesh, Mythily Ganapathy, Lyndon Gallacher, Jack Fu, Emily Evangelista, Eleina England, Sandra Donkervoort, Stephanie DiTroia, Sandra T Cooper, Wendy K Chung, John Chrisodoulou, Katherine R Chao, Liam D Cato, Kinga M Bujakowska, Samantha J Bryen, Harrison Brand, Carsten Bonnemann, Alan H Beggs, Samantha M Baxter, Pankaj B Agrawal, Michael Talkowski, Chrissy Austin-Tse, Heidi L Rehm, Anne O'Donnell-Luria
Unique Capabilities of Genome Sequencing for Rare Disease Diagnosis. medRxiv : the preprint server for health sciences (2023)
Mio Aerden, Anne Sophie Denommé-Pichon, Dominique Bonneau, Ange-Line Bruel, Julian Delanne, Bénédicte Gérard, Benoit Mazel, Christophe Philippe, Lucile Pinson, Clément Prouteau, Audrey Putoux, Frédéric Tran Mau Them, Eleonore Viora-Dupont, Antonio Vitobello, Alban Ziegler, Amelie Piton, Bertrand Isidor, Christine Francannet, Pierre-Yves Maillard, Sophie Julia, Anais Philippe, Elise Schaefer, Saskia Koene, Claudia Ruivenkamp, Mariette J V Hoffer, Eric Legius, Miel Theunis, Boris Keren, Julien Buratti, Perrine Charles, Thomas Courtin, Mala Misra-Isrie, Mieke M van Haelst, Quinten Waisfisz, Dagmar Wieczorek, Ariane Schmetz, Theresia Herget, Fanny Kortüm, Jasmin Lisfeld, François-Guillaume Debray, Nuria C Bramswig, Isis Atallah, Heidi Fodstad, Guillaume Jouret, Berta Almoguera, Saoud Tahsin Swafiri, Fernando Santos-Simarro, Maria Palomares-Bralo, Vanesa López-González, Maria Kibaek, Pernille M Tørring, Alessandra Renieri, Lucia Pia Bruno, Katrin Õunap, Monica Wojcik, Tzung-Chien Hsieh, Peter Krawitz, Hilde Van Esch
The neurodevelopmental and facial phenotype in individuals with a TRIP12 variant. European journal of human genetics : EJHG (2023)
Kaisa Teele Oja, Mihkel Ilisson, Karit Reinson, Kai Muru, Tiia Reimand, Hedi Peterson, Dmytro Fishman, Tõnu Esko, Toomas Haller, Jaanika Kronberg, Monica Hsiung Wojcik, Adam D Kennedy, Gregory Michelotti, Anne H O'Donnell-Luria, Eve Õiglane-Šlik, Sander Pajusalu, Katrin Õunap
Untargeted metabolomics profiling in pediatric patients and adult populations indicates a connection between lipid imbalance and epilepsy. medRxiv : the preprint server for health sciences (2023)
Eden Engal, Kaisa Teele Oja, Reza Maroofian, Ophir Geminder, Thuy-Linh Le, Evyatar Mor, Naama Tzvi, Naama Elefant, Maha Saad Zaki, Joseph G Gleeson, Kai Muru, Sander Pajusalu, Monica Hsiung Wojcik, Divya Pachat, Marwa Abd Elmaksoud, Won Chan Jeong, Hane Lee, Peter Bauer, Giovanni Zifarelli, Henry Houlden, Orly Elpeleg, Chris Gordon, Tamar Harel, Katrin Õunap, Maayan Salton, Hagar Mor-Shaked
Biallelic loss of function variants in WBP4 , encoding a spliceosome protein, result in a variable neurodevelopmental delay syndrome. medRxiv : the preprint server for health sciences (2023)
Monica Hsiung Wojcik, Gabrielle Lemire, Maha S Zaki, Mariel Wissman, Wathone Win, Sue White, Ben Weisburd, Leigh B Waddell, Jeffrey M Verboon, Grace E VanNoy, Ana Töpf, Tiong Yang Tan, Volker Straub, Sarah L Stenton, Hana Snow, Moriel Singer-Berk, Josh Silver, Shirlee Shril, Eleanor G Seaby, Ronen Schneider, Vijay G Sankaran, Alba Sanchis-Juan, Kathryn A Russell, Karit Reinson, Gianina Ravenscroft, Eric A Pierce, Emily M Place, Sander Pajusalu, Lynn Pais, Katrin Õunap, Ikeoluwa Osei-Owusu, Volkan Okur, Kaisa Teele Oja, Melanie O'Leary, Emily O'Heir, Chantal Morel, Rhett G Marchant, Brian E Mangilog, Jill A Madden, Daniel MacArthur, Alysia Lovgren, Jordan P Lerner-Ellis, Jasmine Lin, Nigel Laing, Friedhelm Hildebrandt, Emily Groopman, Julia Goodrich, Joseph G Gleeson, Roula Ghaoui, Casie A Genetti, Hanna T Gazda, Vijay S Ganesh, Mythily Ganapathy, Lyndon Gallacher, Jack Fu, Emily Evangelista, Eleina England, Sandra Donkervoort, Stephanie DiTroia, Sandra T Cooper, Wendy K Chung, John Chrisodoulou, Katherine R Chao, Liam D Cato, Kinga M Bujakowska, Samantha J Bryen, Harrison Brand, Carsten Bonnemann, Alan H Beggs, Samantha M Baxter, Pankaj B Agrawal, Michael Talkowski, Chrissy Austin-Tse, Heidi L Rehm, Anne O'Donnell-Luria
Unique Capabilities of Genome Sequencing for Rare Disease Diagnosis. medRxiv : the preprint server for health sciences (2023)
Monica Hsiung Wojcik, Gabrielle Lemire, Maha S Zaki, Mariel Wissman, Wathone Win, Sue White, Ben Weisburd, Leigh B Waddell, Jeffrey M Verboon, Grace E VanNoy, Ana Töpf, Tiong Yang Tan, Volker Straub, Sarah L Stenton, Hana Snow, Moriel Singer-Berk, Josh Silver, Shirlee Shril, Eleanor G Seaby, Ronen Schneider, Vijay G Sankaran, Alba Sanchis-Juan, Kathryn A Russell, Karit Reinson, Gianina Ravenscroft, Eric A Pierce, Emily M Place, Sander Pajusalu, Lynn Pais, Katrin Õunap, Ikeoluwa Osei-Owusu, Volkan Okur, Kaisa Teele Oja, Melanie O'Leary, Emily O'Heir, Chantal Morel, Rhett G Marchant, Brian E Mangilog, Jill A Madden, Daniel MacArthur, Alysia Lovgren, Jordan P Lerner-Ellis, Jasmine Lin, Nigel Laing, Friedhelm Hildebrandt, Emily Groopman, Julia Goodrich, Joseph G Gleeson, Roula Ghaoui, Casie A Genetti, Hanna T Gazda, Vijay S Ganesh, Mythily Ganapathy, Lyndon Gallacher, Jack Fu, Emily Evangelista, Eleina England, Sandra Donkervoort, Stephanie DiTroia, Sandra T Cooper, Wendy K Chung, John Chrisodoulou, Katherine R Chao, Liam D Cato, Kinga M Bujakowska, Samantha J Bryen, Harrison Brand, Carsten Bonnemann, Alan H Beggs, Samantha M Baxter, Pankaj B Agrawal, Michael Talkowski, Chrissy Austin-Tse, Heidi L Rehm, Anne O'Donnell-Luria
Unique Capabilities of Genome Sequencing for Rare Disease Diagnosis. medRxiv : the preprint server for health sciences (2023)
Laura Roht, Hanne K Hyldebrandt, Astrid T Stormorken, Hilde Nordgarden, Rolf H Sijmons, Dennis K Bos, Douglas Riegert-Johnson, Sarah Mantia-Macklin, Pilvi Ilves, Kai Muru, Monica H Wojcik, Tiina Kahre, Katrin Õunap
AXIN2-related oligodontia-colorectal cancer syndrome with cleft palate as a possible new feature. Molecular genetics & genomic medicine (2023)
Nicola de Prisco, Caitlin Ford, Nathan D Elrod, Winston Lee, Lauren C Tang, Kai-Lieh Huang, Ai Lin, Ping Ji, Venkata S Jonnakuti, Lia Boyle, Maximilian Cabaj, Salvatore Botta, Katrin Õunap, Karit Reinson, Monica Hsiung Wojcik, Jill Anne Rosenfeld, Weimin Bi, Kristian Tveten, Trine Prescott, Thorsten Gerstner, Audrey Schroeder, Chin-To Fong, Jaya K George-Abraham, Catherine A Buchanan, Andrea Hanson-Kahn, Jonathan A Bernstein, Aikaterini A Nella, Wendy K Chung, Vicky L Brandt, Marko Jovanovic, Kimara L Targoff, Hari Krishna Yalamanchili, Eric J Wagner, Vincenzo A Gennarino
Alternative polyadenylation alters protein dosage by switching between intronic and 3'UTR sites. Science advances 9 (7) (2023)
Nicola de Prisco, Caitlin Ford, Nathan D Elrod, Winston Lee, Lauren C Tang, Kai-Lieh Huang, Ai Lin, Ping Ji, Venkata S Jonnakuti, Lia Boyle, Maximilian Cabaj, Salvatore Botta, Katrin Õunap, Karit Reinson, Monica Hsiung Wojcik, Jill Anne Rosenfeld, Weimin Bi, Kristian Tveten, Trine Prescott, Thorsten Gerstner, Audrey Schroeder, Chin-To Fong, Jaya K George-Abraham, Catherine A Buchanan, Andrea Hanson-Kahn, Jonathan A Bernstein, Aikaterini A Nella, Wendy K Chung, Vicky L Brandt, Marko Jovanovic, Kimara L Targoff, Hari Krishna Yalamanchili, Eric J Wagner, Vincenzo A Gennarino
Alternative polyadenylation alters protein dosage by switching between intronic and 3'UTR sites. Science advances 9 (7) (2023)
Beau D E Janssen, Marie-Jose H van den Boogaard, Klaske Lichtenbelt, Eleanor G Seaby, Karen Stals, Sian Ellard, Ruth Newbury-Ecob, Abhijit Dixit, Laura Roht, Sander Pajusalu, Katrin Õunap, Helen V Firth, Michael Buckley, Meredith Wilson, Tony Roscioli, Timothy Tidwell, Rong Mao, Sarah Ennis, Sjoerd J Holwerda, Koen van Gassen, Richard H van Jaarsveld
De novo putative loss-of-function variants in TAF4 are associated with a neuro-developmental disorder. Human mutation (2022)
Magdalena Mroczek, Inna Inashkina, Janis Stavusis, Pawel Zayakin, Andrey V Khrunin, Ieva Micule, Victorija Kenina, Anna Zdanovica, Jana Zídková, Lenka Fajkusová, Svetlana A Limborska, Anneke J van der Kooi, Esther Brusse, Lea Leonardis, Ales Maver, Sander Pajusalu, Katrin Õunap, Sanna Puusepp, Paula Dobosz, Mateusz Sypniewski, Birute Burnyte, Baiba Lace
CAPN3 c.1746-20C>G variant is hypomorphic for LGMD R1 calpain 3-related. Human mutation 43 (10) (2022)
Elis Tiivoja, Karit Reinson, Kai Muru, Kristi Rähn, Kristina Muhu, Laura Mauring, Tiina Kahre, Sander Pajusalu, Katrin Õunap
The prevalence of inherited metabolic disorders in Estonian population over 30 years: A significant increase during study period. JIMD reports 63 (6) (2022)
Konstantin Ridnõi, Kai Muru, Maria Keernik, Sander Pajusalu, Eva-Liina Ustav, Pille Tammur, Triin Mölter-Väär, Tiina Kahre, Ustina Šamarina, Karin Asser, Ferenc Szirko, Tiia Reimand, Katrin Õunap
A two-year prospective study assessing the performance of fetal chromosomal microarray analysis and next-generation sequencing in high-risk pregnancies. Molecular genetics & genomic medicine 9 (10) (2021)
David B Beck, Mohammed A Basar, Anthony J Asmar, Joyce J Thompson, Hirotsugu Oda, Daniela T Uehara, Ken Saida, Sander Pajusalu, Inga Talvik, Precilla D'Souza, Joann Norma Bodurtha, Weiyi Mu, Kristin W Barañano, Noriko Miyake, Raymond Yu-Jeang Wang, Marlies Kempers, Tomoko Tamada, Yutaka Nishimura, Satoshi Okada, Tomoki Kosho, Ryan Dale, Apratim Mitra, Ellen F Macnamara, null null, Naomichi Matsumoto, Johji Inazawa, Magdalena Walkiewicz, Katrin Õunap, Cynthia J Tifft, Ivona Aksentijevich, Daniel L Kastner, Pedro P Rocha, Achim Werner
Linkage-specific deubiquitylation by OTUD5 defines an embryonic pathway intolerant to genomic variation. Science advances 7 (4) (2021)
Monika Oláhová, Bradley Peter, Zsolt Szilagyi, Hector Diaz-Maldonado, Meenakshi Singh, Ewen W Sommerville, Emma L Blakely, Jack J Collier, Emily Hoberg, Viktor Stránecký, Hana Hartmannová, Anthony J Bleyer, Kim L McBride, Sasigarn A Bowden, Zuzana Korandová, Alena Pecinová, Hans-Hilger Ropers, Kimia Kahrizi, Hossein Najmabadi, Mark A Tarnopolsky, Lauren I Brady, K Nicole Weaver, Carlos E Prada, Katrin Õunap, Monica H Wojcik, Sander Pajusalu, Safoora B Syeda, Lynn Pais, Elicia A Estrella, Christine C Bruels, Louis M Kunkel, Peter B Kang, Penelope E Bonnen, Tomáš Mráček, Stanislav Kmoch, Gráinne S Gorman, Maria Falkenberg, Claes M Gustafsson, Robert W Taylor
POLRMT mutations impair mitochondrial transcription causing neurological disease. Nature communications 12 (1) (2021)
Yanick J Crow, Heather Marshall, Gillian I Rice, Luis Seabra, Emma M Jenkinson, Kristin Baranano, Roberta Battini, Andrea Berger, Edward Blair, Thomas Blauwblomme, Francois Bolduc, Natalie Boddaert, Johannes Buckard, Heather Burnett, Sophie Calvert, Roseline Caumes, Andy Cheuk-Him Ng, Diana Chiang, David B Clifford, Duccio M Cordelli, Anna de Burca, Natasha Demic, Isabelle Desguerre, Liesbeth De Waele, Alessio Di Fonzo, S Richard Dunham, Sarah Dyack, Frances Elmslie, Mickaël Ferrand, Gemma Fisher, Ehsan Ghayoor Karimiani, Jamal Ghoumid, Frances Gibbon, Himanshu Goel, Hilde T Hilmarsen, Imelda Hughes, Anu Jacob, Elizabeth A Jones, Ram Kumar, Richard J Leventer, Shelley MacDonald, Reza Maroofian, Sarju G Mehta, Imke Metz, Edoardo Monfrini, Daniela Neumann, Michael Noetzel, Mary O'Driscoll, Katrin Õunap, Axel Panzer, Sumit Parikh, Prab Prabhakar, Francis Ramond, Richard Sandford, Russell Saneto, Calvin Soh, Chloe Alice Stutterd, Gopinath M Subramanian, Kevin Talbot, Rhys H Thomas, Camilo Toro, Renaud Touraine, Emma Wakeling, Evangeline Wassmer, Andrea Whitney, John H Livingston, Raymond T O'Keefe, Andrew P Badrock
Leukoencephalopathy with calcifications and cysts: Genetic and phenotypic spectrum. American journal of medical genetics. Part A 185 (1) (2020)
Veronica M Pravata, Michaela Omelková, Marios P Stavridis, Chelsea M Desbiens, Hannah M Stephen, Dirk J Lefeber, Jozef Gecz, Mehmet Gundogdu, Katrin Õunap, Shelagh Joss, Charles E Schwartz, Lance Wells, Daan M F van Aalten
An intellectual disability syndrome with single-nucleotide variants in O-GlcNAc transferase. European journal of human genetics : EJHG 28 (6) (2020)
Hardo Lilleväli, Sander Pajusalu, Monica H Wojcik, Julia Goodrich, Ryan L Collins, Ülle Murumets, Pille Tammur, Nenad Blau, Kersti Lilleväli, Katrin Õunap
Genome sequencing identifies a homozygous inversion disrupting QDPR as a cause for dihydropteridine reductase deficiency. Molecular genetics & genomic medicine 8 (4) (2020)
Karit Reinson, Katrin Õunap
Complex I deficiency and Leigh syndrome through the eyes of a clinician. EMBO molecular medicine 12 (11) (2020)
Sophie Nambot, Laurence Faivre, Ghayda Mirzaa, Julien Thevenon, Ange-Line Bruel, Anne-Laure Mosca-Boidron, Alice Masurel-Paulet, Alice Goldenberg, Nathalie Le Meur, Aude Charollais, Cyril Mignot, Florence Petit, Massimiliano Rossi, Julia Metreau, Valérie Layet, Daniel Amram, Odile Boute-Bénéjean, Elizabeth Bhoj, Margot A Cousin, Teresa M Kruisselbrink, Brendan C Lanpher, Eric W Klee, Elise Fiala, Dorothy K Grange, Wendy S Meschino, Susan M Hiatt, Gregory M Cooper, Hilde Olivié, Wendy E Smith, Meghan Dumas, Anna Lehman, null null, Cara Inglese, Mathilde Nizon, Renzo Guerrini, Annalisa Vetro, Eitan S Kaplan, Dolores Miramar, Julien Van Gils, Patricia Fergelot, Olaf Bodamer, Johanna C Herkert, Sander Pajusalu, Katrin Õunap, James J Filiano, Thomas Smol, Amelie Piton, Bénédicte Gérard, Sandra Chantot-Bastaraud, Thierry Bienvenu, Dong Li, Jane Juusola, Koen Devriendt, Frederic Bilan, Charlotte Poé, Martin Chevarin, Thibaud Jouan, Emilie Tisserant, Jean-Baptiste Rivière, Frédéric Tran Mau-Them, Christophe Philippe, Yannis Duffourd, William B Dobyns, Robert F Hevner, Christel Thauvin-Robinet
De novo TBR1 variants cause a neurocognitive phenotype with ID and autistic traits: report of 25 new individuals and review of the literature. European journal of human genetics : EJHG 28 (6) (2020)
Maria Yakoreva, Tiina Kahre, Riina Žordania, Karit Reinson, Rita Teek, Vallo Tillmann, Aleksandr Peet, Eve Õiglane-Shlik, Sander Pajusalu, Ülle Murumets, Mari-Anne Vals, Pille Mee, Monica H Wojcik, Katrin Õunap
A retrospective analysis of the prevalence of imprinting disorders in Estonia from 1998 to 2016. European journal of human genetics : EJHG 27 (11) (2019)
Kai Muru, Karit Reinson, Kadi Künnapas, Hardo Lilleväli, Zahra Nochi, Signe Mosegaard, Sander Pajusalu, Rikke K J Olsen, Katrin Õunap
FLAD1-associated multiple acyl-CoA dehydrogenase deficiency identified by newborn screening. Molecular genetics & genomic medicine 7 (9) (2019)
Konstantin Ridnõi, Marek Šois, Eve Vaidla, Sander Pajusalu, Larissa Kelder, Tiia Reimand, Katrin Õunap
A prenatally diagnosed case of Meckel-Gruber syndrome with novel compound heterozygous pathogenic variants in the TXNDC15 gene. Molecular genetics & genomic medicine 7 (5) (2019)
Enrico D H Konrad, Niels Nardini, Almuth Caliebe, Inga Nagel, Dana Young, Gabriella Horvath, Stephanie L Santoro, Christine Shuss, Alban Ziegler, Dominique Bonneau, Marlies Kempers, Rolph Pfundt, Eric Legius, Arjan Bouman, Kyra E Stuurman, Katrin Õunap, Sander Pajusalu, Monica Hsiung Wojcik, Georgia Vasileiou, Gwenaël Le Guyader, Hege M Schnelle, Siren Berland, Evelien Zonneveld-Huijssoon, Simone Kersten, Aditi Gupta, Patrick R Blackburn, Marissa S Ellingson, Matthew J Ferber, Radhika Dhamija, Eric W Klee, Meriel McEntagart, Klaske D Lichtenbelt, Amy Kenney, Samantha A Vergano, Rami Abou Jamra, Konrad Platzer, Mary Ella Pierpont, Divya Khattar, Robert J Hopkin, Richard J Martin, Marjolijn C J Jongmans, Vivian Y Chang, Julian A Martinez-Agosto, Outi Kuismin, Mitja I Kurki, Olli Pietiläinen, Aarno Palotie, Timothy J Maarup, Diana S Johnson, Katja Venborg Pedersen, Lone W Laulund, Sally A Lynch, Moira Blyth, Katrina Prescott, Natalie Canham, Rita Ibitoye, Eva H Brilstra, Marwan Shinawi, Emily Fassi, null null, Heinrich Sticht, Anne Gregor, Hilde Van Esch, Christiane Zweier
CTCF variants in 39 individuals with a variable neurodevelopmental disorder broaden the mutational and clinical spectrum. Genetics in medicine : official journal of the American College of Medical Genetics 21 (12) (2019)

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Katrin Õunap