Katrin Ounap
AuthID: R-00G-JS6
1
TITLE: Recommendations for reporting results of diagnostic genomic testing
AUTHORS: Deans, Zandra C.; Ahn, Joo Wook; Carreira, Isabel M.; Dequeker, Elisabeth; Henderson, Mick; Lovrecic, Luca; Ounap, Katrin; Tabiner, Melody; Treacy, Rebecca; van Asperen, Christi J.;
PUBLISHED: 2022, SOURCE: EUROPEAN JOURNAL OF HUMAN GENETICS
AUTHORS: Deans, Zandra C.; Ahn, Joo Wook; Carreira, Isabel M.; Dequeker, Elisabeth; Henderson, Mick; Lovrecic, Luca; Ounap, Katrin; Tabiner, Melody; Treacy, Rebecca; van Asperen, Christi J.;
PUBLISHED: 2022, SOURCE: EUROPEAN JOURNAL OF HUMAN GENETICS
INDEXED IN: 
Scopus 
WOS
Scopus WOS2
TITLE: Integrating national Red Lists for prioritising conservation actions for European butterflies Full Text
AUTHORS: Dirk Maes; Rudi Verovnik; Martin Wiemers; Dimitri Brosens; Stoyan Beshkov; Simona Bonelli; Jaroslaw Buszko; Lisette Cantu Salazar; Louis Francis Cassar; Sue Collins; Vlad Dinca; Milan Djuric; Goran Dusej; Hallvard Elven; Filip Franeta; Patricia Garcia Pereira; Yurii Geryak; Philippe Goffart; Adam Gor; Ulrich Hiermann; ...More
PUBLISHED: 2019, SOURCE: Butterfly Conservation's 8th International Symposum in JOURNAL OF INSECT CONSERVATION, VOLUME: 23, ISSUE: 2
AUTHORS: Dirk Maes; Rudi Verovnik; Martin Wiemers; Dimitri Brosens; Stoyan Beshkov; Simona Bonelli; Jaroslaw Buszko; Lisette Cantu Salazar; Louis Francis Cassar; Sue Collins; Vlad Dinca; Milan Djuric; Goran Dusej; Hallvard Elven; Filip Franeta; Patricia Garcia Pereira; Yurii Geryak; Philippe Goffart; Adam Gor; Ulrich Hiermann; ...More
PUBLISHED: 2019, SOURCE: Butterfly Conservation's 8th International Symposum in JOURNAL OF INSECT CONSERVATION, VOLUME: 23, ISSUE: 2
INDEXED IN: Scopus WOS
Scopus WOS3
TITLE: International clinical guidelines for the management of phosphomannomutase 2-congenital disorders of glycosylation: Diagnosis, treatment and follow up Full Text
AUTHORS: Ruqaiah Altassan; Romain Peanne; Jaak Jaeken; Rita Barone; Muad Bidet; Delphine Borgel; Sandra Brasil; David Cassiman; Anna Cechova; David Coman; Javier Corral; Joana Correia; Maria Eugenia de la Morena Barrio; Pascale de Lonlay; Vanessa Dos Reis; Carlos R Ferreira; Agata Fiumara; Rita Francisco; Hudson Freeze; Simone Funke; ...More
PUBLISHED: 2019, SOURCE: JOURNAL OF INHERITED METABOLIC DISEASE, VOLUME: 42, ISSUE: 1
AUTHORS: Ruqaiah Altassan; Romain Peanne; Jaak Jaeken; Rita Barone; Muad Bidet; Delphine Borgel; Sandra Brasil; David Cassiman; Anna Cechova; David Coman; Javier Corral; Joana Correia; Maria Eugenia de la Morena Barrio; Pascale de Lonlay; Vanessa Dos Reis; Carlos R Ferreira; Agata Fiumara; Rita Francisco; Hudson Freeze; Simone Funke; ...More
PUBLISHED: 2019, SOURCE: JOURNAL OF INHERITED METABOLIC DISEASE, VOLUME: 42, ISSUE: 1
INDEXED IN: Scopus WOS
Scopus WOS4
TITLE: Clinical, neuroradiological, and biochemical features of SLC35A2-CDG patients Full Text
AUTHORS: Mari Anne Vals; Angel Ashikov; Pilvi Ilves; Dagmar Loorits; Qiang Zeng; Rita Barone; Karin Huijben; Jolanta Sykut Cegielska; Luisa Diogo; Abdallah F Elias; Robert S Greenwood; Stephanie Grunewald; Peter M van Hasselt; Jiddeke M van de Kamp; Grazia Mancini; Agnieszka Okninska; Sander Pajusalu; Pauline M Rudd; Cecilie F Rustad; Ramona Salvarinova; ...More
PUBLISHED: 2019, SOURCE: JOURNAL OF INHERITED METABOLIC DISEASE, VOLUME: 42, ISSUE: 3
AUTHORS: Mari Anne Vals; Angel Ashikov; Pilvi Ilves; Dagmar Loorits; Qiang Zeng; Rita Barone; Karin Huijben; Jolanta Sykut Cegielska; Luisa Diogo; Abdallah F Elias; Robert S Greenwood; Stephanie Grunewald; Peter M van Hasselt; Jiddeke M van de Kamp; Grazia Mancini; Agnieszka Okninska; Sander Pajusalu; Pauline M Rudd; Cecilie F Rustad; Ramona Salvarinova; ...More
PUBLISHED: 2019, SOURCE: JOURNAL OF INHERITED METABOLIC DISEASE, VOLUME: 42, ISSUE: 3
INDEXED IN: Scopus WOS
Scopus WOS5
TITLE: Treatment outcome of creatine transporter deficiency: international retrospective cohort study Full Text
AUTHORS: Theodora U J Bruun; Sarah Sidky; Anabela O Bandeira; Francoise Guillaume Debray; Can Ficicioglu; Jennifer Goldstein; Kairit Joost; Dwight D Koeberl; Diogo Luisa; Marie Cecile Nassogne; Siobhan O'Sullivan; Katrin Ounap; Andreas Schulze; Lionel van Maldergem; Gajja S Salomons; Saadet Mercimek Andrews;
PUBLISHED: 2018, SOURCE: METABOLIC BRAIN DISEASE, VOLUME: 33, ISSUE: 3
AUTHORS: Theodora U J Bruun; Sarah Sidky; Anabela O Bandeira; Francoise Guillaume Debray; Can Ficicioglu; Jennifer Goldstein; Kairit Joost; Dwight D Koeberl; Diogo Luisa; Marie Cecile Nassogne; Siobhan O'Sullivan; Katrin Ounap; Andreas Schulze; Lionel van Maldergem; Gajja S Salomons; Saadet Mercimek Andrews;
PUBLISHED: 2018, SOURCE: METABOLIC BRAIN DISEASE, VOLUME: 33, ISSUE: 3
INDEXED IN: Scopus WOS
Scopus WOS6
TITLE: The Koolen-de Vries syndrome: a phenotypic comparison of patients with a 17q21.31 microdeletion versus a KANSL1 sequence variant Full Text
AUTHORS: David A Koolen; Rolph Pfundt; Katrin Linda; Gea Beunders; Hermine E Veenstra Knol; Jessie H Conta; Ana Maria Fortuna; Gabriele Gillessen Kaesbach; Sarah Dugan; Sara Halbach; Omar A Abdul Rahman; Heather M Winesett; Wendy K Chung; Marguerite Dalton; Petia S Dimova; Teresa Mattina; Katrina Prescott; Hui Z Zhang; Howard M Saal; Jayne Y Hehir Kwa; ...More
PUBLISHED: 2016, SOURCE: EUROPEAN JOURNAL OF HUMAN GENETICS, VOLUME: 24, ISSUE: 5
AUTHORS: David A Koolen; Rolph Pfundt; Katrin Linda; Gea Beunders; Hermine E Veenstra Knol; Jessie H Conta; Ana Maria Fortuna; Gabriele Gillessen Kaesbach; Sarah Dugan; Sara Halbach; Omar A Abdul Rahman; Heather M Winesett; Wendy K Chung; Marguerite Dalton; Petia S Dimova; Teresa Mattina; Katrina Prescott; Hui Z Zhang; Howard M Saal; Jayne Y Hehir Kwa; ...More
PUBLISHED: 2016, SOURCE: EUROPEAN JOURNAL OF HUMAN GENETICS, VOLUME: 24, ISSUE: 5
7
TITLE: Novel (ovario) leukodystrophy related to AARS2 mutations
AUTHORS: Cristina Dallabona; Daria Diodato; Sietske H Kevelam; Tobias B Haack; Lee Jun Wong; Gajja S Salomons; Enrico Baruffini; Laura Melchionda; Caterina Mariotti; Tim M Strom; Thomas Meitinger; Holger Prokisch; Kim Chapman; Alison Colley; Helena Rocha; Katrin Ounap; Raphael Schiffmann; Ettore Salsano; Mario Savoiardo; Eline M Hamilton; ...More
PUBLISHED: 2014, SOURCE: NEUROLOGY, VOLUME: 82, ISSUE: 23
AUTHORS: Cristina Dallabona; Daria Diodato; Sietske H Kevelam; Tobias B Haack; Lee Jun Wong; Gajja S Salomons; Enrico Baruffini; Laura Melchionda; Caterina Mariotti; Tim M Strom; Thomas Meitinger; Holger Prokisch; Kim Chapman; Alison Colley; Helena Rocha; Katrin Ounap; Raphael Schiffmann; Ettore Salsano; Mario Savoiardo; Eline M Hamilton; ...More
PUBLISHED: 2014, SOURCE: NEUROLOGY, VOLUME: 82, ISSUE: 23
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TITLE: Mutations in CTC1, encoding conserved telomere maintenance component 1, cause Coats plus Full Text
AUTHORS: Beverley H Anderson; Paul R Kasher; Josephine Mayer; Marcin Szynkiewicz; Emma M Jenkinson; Sanjeev S Bhaskar; Jill E Urquhart; Sarah B Daly; Jonathan E Dickerson; James O'Sullivan; Elisabeth Oppliger Leibundgut; Joanne Muter; Ghada M H Abdel Salem; Riyana Babul Hirji; Peter Baxter; Andrea Berger; Luisa Bonafe; Janice E Brunstom Hernandez; Johannes A Buckard; David Chitayat; ...More
PUBLISHED: 2012, SOURCE: NATURE GENETICS, VOLUME: 44, ISSUE: 3
AUTHORS: Beverley H Anderson; Paul R Kasher; Josephine Mayer; Marcin Szynkiewicz; Emma M Jenkinson; Sanjeev S Bhaskar; Jill E Urquhart; Sarah B Daly; Jonathan E Dickerson; James O'Sullivan; Elisabeth Oppliger Leibundgut; Joanne Muter; Ghada M H Abdel Salem; Riyana Babul Hirji; Peter Baxter; Andrea Berger; Luisa Bonafe; Janice E Brunstom Hernandez; Johannes A Buckard; David Chitayat; ...More
PUBLISHED: 2012, SOURCE: NATURE GENETICS, VOLUME: 44, ISSUE: 3
