Katrin Õunap

Affiliations
  • Department of Clinical Genetics, United Laboratories, Tartu University Hospital, Tartu 50406, Estonia; Department of Clinical Genetics, Institute of Clinical Medicine, University of Tartu, Tartu 50406, Estonia.

Publications (77)

Delineation of a Human Mendelian Disorder of the DNA Demethylation Machinery: TET3 Deficiency.

American journal of human genetics
Avec: David B Beck , Ana Petracovici , Chongsheng He , Hannah W Moore , Raymond J Louie , Muhammad Ansar , Sofia Douzgou , Sivagamy Sithambaram , Trudie Cottrell , Regie Lyn P Santos-Cortez , Eloise J Prijoles , Renee Bend , Boris Keren , Cyril Mignot , Marie-Christine Nougues , Katrin Õunap , Tiia Reimand , Sander Pajusalu , Muhammad Zahid , Muhammad Arif Nadeem Saqib , Julien Buratti , Eleanor G Seaby , Kirsty McWalter , Aida Telegrafi , Dustin Baldridge , Marwan Shinawi , Suzanne M Leal , G Bradley Schaefer , Roger E Stevenson , Siddharth Banka , Roberto Bonasio , Jill A Fahrner

Clinical and biochemical improvement with galactose supplementation in SLC35A2-CDG.

Genetics in medicine : official journal of the American College of Medical Genetics
Avec: Peter Witters , Shawn Tahata , Rita Barone , Katrin Õunap , Ramona Salvarinova , Sabine Grønborg , George Hoganson , Fernando Scaglia , Andrea Margaret Lewis , Mari Mori , Jolanta Sykut-Cegielska , Andrew Edmondson , Miao He , Eva Morava

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
Avec: 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 H 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 , Auteur inconnu , Heinrich Sticht , Anne Gregor , Hilde Van Esch , Christiane Zweier

Clinical, neuroradiological, and biochemical features of SLC35A2-CDG patients.

Journal of inherited metabolic disease
Avec: Mari-Anne Vals , Angel Ashikov , Pilvi Ilves , Dagmar Loorits , Qiang Zeng , Rita Barone , Karin Huijben , Jolanta Sykut-Cegielska , Luísa 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 , Bert B A de Vries , Nicole I Wolf , Auteur inconnu , Bobby G Ng , Hudson H Freeze , Dirk J Lefeber , Katrin Õunap

Complex I deficiency and Leigh syndrome through the eyes of a clinician.

EMBO molecular medicine
Avec: Karit Reinson , Katrin Õunap

Loss-of-function and missense variants in NSD2 cause decreased methylation activity and are associated with a distinct developmental phenotype.

Genetics in medicine : official journal of the American College of Medical Genetics
Avec: Paolo Zanoni , Katharina Steindl , Deepanwita Sengupta , Pascal Joset , Angela Bahr , Heinrich Sticht , Mariarosaria Lang-Muritano , Conny M A van Ravenswaaij-Arts , Marwan Shinawi , Marisa Andrews , Tania Attie-Bitach , Isabelle Maystadt , Newell Belnap , Valerie Benoit , Geoffroy Delplancq , Bert B A de Vries , Sarah Grotto , Didier Lacombe , Austin Larson , Jeroen Mourmans , Katrin Õunap , Giulia Petrilli , Rolph Pfundt , Keri Ramsey , Lot Snijders Blok , Vassilis Tsatsaris , Antonio Vitobello , Laurence Faivre , Patricia G Wheeler , Marijke R Wevers , Monica Wojcik , Markus Zweier , Or Gozani , Anita Rauch

A form of muscular dystrophy associated with pathogenic variants in JAG2.

American journal of human genetics
Avec: Sandra Coppens , Alison M Barnard , Sanna Puusepp , Sander Pajusalu , Katrin Õunap , Dorianmarie Vargas-Franco , Christine C Bruels , Sandra Donkervoort , Lynn Pais , Katherine R Chao , Julia K Goodrich , Eleina M England , Ben Weisburd , Vijay S Ganesh , Sanna Gudmundsson , Anne O'Donnell-Luria , Mait Nigul , Pilvi Ilves , Payam Mohassel , Teepu Siddique , Margherita Milone , Stefan Nicolau , Reza Maroofian , Henry Houlden , Michael G Hanna , Ros Quinlivan , Mehran Beiraghi Toosi , Ehsan Ghayoor Karimiani , Sabine Costagliola , Nicolas Deconinck , Hazim Kadhim , Erica Macke , Brendan C Lanpher , Eric W Klee , Anna Łusakowska , Anna Kostera-Pruszczyk , Andreas Hahn , Bertold Schrank , Ichizo Nishino , Masashi Ogasawara , Rasha El Sherif , Tanya Stojkovic , Isabelle Nelson , Gisèle Bonne , Enzo Cohen , Anne Boland-Augé , Jean-François Deleuze , Yao Meng , Ana Töpf , Catheline Vilain , Christina A Pacak , Marie L Rivera-Zengotita , Carsten G Bönnemann , Volker Straub , Penny A Handford , Isabelle Draper , Glenn A Walter , Peter B Kang

The Estimated Prevalence of N-Linked Congenital Disorders of Glycosylation Across Various Populations Based on Allele Frequencies in General Population Databases.

Frontiers in genetics
Avec: Sander Pajusalu , Mari-Anne Vals , Laura Mihkla , Ustina Šamarina , Tiina Kahre , 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
Avec: 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

Alternative polyadenylation alters protein dosage by switching between intronic and 3'UTR sites.

Science advances
Avec: 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 H Wojcik , Jill A Rosenfeld , Weimin Bi , Kristian Tveten , Trine Prescott , Thorsten Gerstner , Audrey Schroeder , Chin-To Fong , Jaya K George-Abraham , Catherine A Buchanan , Andrea Hanson-Khan , Jonathan A Bernstein , Aikaterini A Nella , Wendy K Chung , Vicky Brandt , Marko Jovanovic , Kimara L Targoff , Hari Krishna Yalamanchili , Eric J Wagner , Vincenzo A Gennarino

Impaired protein hydroxylase activity causes replication stress and developmental abnormalities in humans.

The Journal of clinical investigation
Avec: Sally C Fletcher , Charlotte Hall , Tristan J Kennedy , Sander Pajusalu , Monica H Wojcik , Uncaar Boora , Chan Li , Kaisa Teele Oja , Eline Hendrix , Christian Ae Westrip , Regina Andrijes , Sonia K Piasecka , Mansi Singh , Mohammed E El-Asrag , Anetta Ptasinska , Vallo Tillmann , Martin R Higgs , Deanna A Carere , Andrew D Beggs , John Pappas , Rachel Rabin , Stephen J Smerdon , Grant S Stewart , Katrin Õunap , Mathew L Coleman

Detecting missed diagnoses of spinal muscular atrophy in genome, exome, and panel sequencing datasets.

medRxiv : the preprint server for health sciences
Avec: Ben Weisburd , Rakshya Sharma , Villem Pata , Tiia Reimand , Vijay S Ganesh , Christina Austin-Tse , Ikeoluwa Osei-Owusu , Emily O'Heir , Melanie O'Leary , Lynn Pais , Seth A Stafki , Audrey L Daugherty , Carsten G Bönnemann , Sandra Donkervoort , Göknur Haliloğlu , Peter B Kang , Gianina Ravenscroft , Nigel Laing , Hamish S Scott , Ana Töpf , Volker Straub , Sander Pajusalu , Katrin Õunap , Grace Tiao , Heidi L Rehm , Anne O'Donnell-Luria

Genome Sequencing for Diagnosing Rare Diseases.

The New England journal of medicine
Avec: Monica H Wojcik , Gabrielle Lemire , Eva Berger , Maha S Zaki , Mariel Wissmann , Wathone Win , Susan M White , Ben Weisburd , Dagmar Wieczorek , Leigh B Waddell , Jeffrey M Verboon , Grace E VanNoy , Ana Töpf , Tiong Yang Tan , Steffen Syrbe , Vincent Strehlow , 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 , Maximilian Radtke , Denny Popp , Tilman Polster , Konrad Platzer , Eric A Pierce , Emily M Place , Sander Pajusalu , Lynn Pais , Katrin Õunap , Ikeoluwa Osei-Owusu , Henry Opperman , Volkan Okur , Kaisa Teele Oja , Melanie O'Leary , Emily O'Heir , Chantal F Morel , Andreas Merkenschlager , Rhett G Marchant , Brian E Mangilog , Jill A Madden , Daniel MacArthur , Alysia Lovgren , Jordan P Lerner-Ellis , Jasmine Lin , Nigel Laing , Friedhelm Hildebrandt , Julia Hentschel , Emily Groopman , Julia Goodrich , Joseph G Gleeson , Roula Ghaoui , Casie A Genetti , Janina Gburek-Augustat , Hanna T Gazda , Vijay S Ganesh , Mythily Ganapathi , Lyndon Gallacher , Jack M Fu , Emily Evangelista , Eleina England , Sandra Donkervoort , Stephanie DiTroia , Sandra T Cooper , Wendy K Chung , John Christodoulou , Katherine R Chao , Liam D Cato , Kinga M Bujakowska , Samantha J Bryen , Harrison Brand , Carsten G Bönnemann , Alan H Beggs , Samantha M Baxter , Tobias Bartolomaeus , Pankaj B Agrawal , Michael Talkowski , Christina Austin-Tse , Rami Abou Jamra , Heidi L Rehm , Anne O'Donnell-Luria

Profiling of Primary and Mature miRNA Expression in Atherosclerosis-Associated Cell Types.

Arteriosclerosis, thrombosis, and vascular biology
Avec: Pierre R Moreau , Vanesa Tomas Bosch , Maria Bouvy-Liivrand , Kadri Õunap , Tiit Örd , Heidi H Pulkkinen , Petri Pölönen , Merja Heinäniemi , Seppo Ylä-Herttuala , Johanna P Laakkonen , Suvi Linna-Kuosmanen , Minna U Kaikkonen

A DNA repair disorder caused by de novo monoallelic DDB1 variants is associated with a neurodevelopmental syndrome.

American journal of human genetics
Avec: Susan M White , Elizabeth Bhoj , Christoffer Nellåker , Augusta M A Lachmeijer , Aren E Marshall , Kym M Boycott , Dong Li , Wendy Smith , Taila Hartley , Arran McBride , Michelle E Ernst , Alison S May , Dagmar Wieczorek , Rami Abou Jamra , Margarete Koch-Hogrebe , Katrin Õunap , Sander Pajusalu , K L I van Gassen , Simon Sadedin , Sara Ellingwood , Tiong Yang Tan , John Christodoulou , Jaime Barea , Paul J Lockhart , Auteur inconnu , Marjan M Nezarati , Kristin D Kernohan

De Novo Variants Disturbing the Transactivation Capacity of POU3F3 Cause a Characteristic Neurodevelopmental Disorder.

American journal of human genetics
Avec: Lot Snijders Blok , Tjitske Kleefstra , Hanka Venselaar , Saskia Maas , Hester Y Kroes , Augusta M A Lachmeijer , Koen L I van Gassen , Helen V Firth , Susan Tomkins , Simon Bodek , Auteur inconnu , Katrin Õunap , Monica H Wojcik , Christopher Cunniff , Katherine Bergstrom , Zoë Powis , Sha Tang , Deepali N Shinde , Catherine Au , Alejandro D Iglesias , Kosuke Izumi , Jacqueline Leonard , Ahmad Abou Tayoun , Samuel W Baker , Marco Tartaglia , Marcello Niceta , Maria Lisa Dentici , Nobuhiko Okamoto , Noriko Miyake , Naomichi Matsumoto , Antonio Vitobello , Laurence Faivre , Christophe Philippe , Christian Gilissen , Laurens Wiel , Rolph Pfundt , Pelagia Deriziotis , Han G Brunner , Simon E Fisher

A missense mutation in the catalytic domain of O-GlcNAc transferase links perturbations in protein O-GlcNAcylation to X-linked intellectual disability.

FEBS letters
Avec: Veronica M Pravata , Mehmet Gundogdu , Sergio G Bartual , Andrew T Ferenbach , Marios Stavridis , Katrin Õunap , Sander Pajusalu , Riina Žordania , Monica H Wojcik , Daan M F van Aalten

The evaluation of phenylalanine levels in Estonian phenylketonuria patients during eight years by electronic laboratory records.

Molecular genetics and metabolism reports
Avec: Hardo Lilleväli , Karit Reinson , Kai Muru , Siret Saarsalu , Kadi Künnapas , Tiina Kahre , Ülle Murumets , Katrin Õunap

An intellectual disability syndrome with single-nucleotide variants in O-GlcNAc transferase.

European journal of human genetics : EJHG
Avec: 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

CAPN3 c.1746-20C>G variant is hypomorphic for LGMD R1 calpain 3-related.

Human mutation
Avec: Magdalena Mroczek , Inna Inashkina , Janis Stavusis , Pawel Zayakin , Andrey Khrunin , Ieva Micule , Victorija Kenina , Anna Zdanovica , Jana Zídková , Lenka Fajkusová , Svetlana 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

Autosomal recessive Leber's hereditary optic neuropathy caused by a homozygous variant in DNAJC30 gene.

European journal of medical genetics
Avec: L Mauring , S Puusepp , M Parik , E Roomets , R Teek , T Reimand , S Pajusalu , K Kaljurand , K Õunap

MOGS-CDG: Quantitative analysis of the diagnostic Glc

Journal of inherited metabolic disease
Avec: Merel A Post , Isis de Wit , Fokje S M Zijlstra , Udo F H Engelke , Arno van Rooij , John Christodoulou , Tiong Yang Tan , Anna Le Fevre , Danqun Jin , Joy Yaplito-Lee , Beom Hee Lee , Karen J Low , Andrew A Mallick , Katrin Õunap , James Pitt , William Reardon , Mari-Anne Vals , Saskia B Wortmann , Hans J C T Wessels , Melissa Bärenfänger , Clara D M van Karnebeek , Dirk J Lefeber

Dissecting the polygenic basis of atherosclerosis via disease-associated cell state signatures.

American journal of human genetics
Avec: Tiit Örd , Tapio Lönnberg , Valtteri Nurminen , Aarthi Ravindran , Henri Niskanen , Miika Kiema , Kadri Õunap , Maleeha Maria , Pierre R Moreau , Pashupati P Mishra , Senthil Palani , Jenni Virta , Heidi Liljenbäck , Einari Aavik , Anne Roivainen , Seppo Ylä-Herttuala , Johanna P Laakkonen , Terho Lehtimäki , Minna U Kaikkonen

The Prevalence and Molecular Landscape of Lynch Syndrome in the Affected and General Population.

Cancers
Avec: Laura Roht , Piret Laidre , Mikk Tooming , Neeme Tõnisson , Margit Nõukas , Miriam Nurm , 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

Biallelic loss of function variants in

medRxiv : the preprint server for health sciences
Avec: Eden Engal , Kaisa Teele Oja , Reza Maroofian , Ophir Geminder , Thuy-Linh Le , Evyatar Mor , Naama Tzvi , Naama Elefant , Maha S Zaki , Joseph G Gleeson , Kai Muru , Sander Pajusalu , Monica H 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

Exome copy number variant detection, analysis and classification in a large cohort of families with undiagnosed rare genetic disease.

medRxiv : the preprint server for health sciences
Avec: 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 Argili , Carolyn Le , Elliott H Sherr , Joseph 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 Bönnemann , Lyndon Gallacher , Zornitza Stark , Tiong Tan , Susan M White , Ana Töpf , Volker Straub , Mark D Fleming , Martin R Pollak , Katrin Õunap , 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

Human skeletal myopathy myosin mutations disrupt myosin head sequestration.

JCI insight
Avec: Glenn Carrington , Abbi Hau , Sarah Kosta , Hannah F Dugdale , Francesco Muntoni , Adele D'Amico , Peter Van den Bergh , Norma B Romero , Edoardo Malfatti , Juan Jesus Vilchez , Anders Oldfors , Sander Pajusalu , Katrin Õunap , Marta Giralt-Pujol , Edmar Zanoteli , Kenneth S Campbell , Hiroyuki Iwamoto , Michelle Peckham , Julien Ochala

Exome copy number variant detection, analysis, and classification in a large cohort of families with undiagnosed rare genetic disease.

American journal of human genetics
Avec: 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 Bönnemann , Lyndon Gallacher , Zornitza Stark , Tiong Yang Tan , Susan M White , Ana Töpf , Volker Straub , Mark D Fleming , Martin R Pollak , Katrin Õunap , 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

Systems Genetics in Human Endothelial Cells Identifies Non-coding Variants Modifying Enhancers, Expression, and Complex Disease Traits.

American journal of human genetics
Avec: Lindsey K Stolze , Austin C Conklin , Michael B Whalen , Maykel López Rodríguez , Kadri Õunap , Ilakya Selvarajan , Anu Toropainen , Tiit Örd , Jin Li , Anna Eshghi , Alice E Solomon , Yun Fang , Minna U Kaikkonen , Casey E Romanoski

A retrospective analysis of the prevalence of imprinting disorders in Estonia from 1998 to 2016.

European journal of human genetics : EJHG
Avec: 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

FLAD1-associated multiple acyl-CoA dehydrogenase deficiency identified by newborn screening.

Molecular genetics & genomic medicine
Avec: Kai Muru , Karit Reinson , Kadi Künnapas , Hardo Lilleväli , Zahra Nochi , Signe Mosegaard , Sander Pajusalu , Rikke K J Olsen , Katrin Õunap

Artificial intelligence enables comprehensive genome interpretation and nomination of candidate diagnoses for rare genetic diseases.

Genome medicine
Avec: Francisco M De La Vega , Shimul Chowdhury , Barry Moore , Erwin Frise , Jeanette McCarthy , Edgar Javier Hernandez , Terence Wong , Kiely James , Lucia Guidugli , Pankaj B Agrawal , Casie A Genetti , Catherine A Brownstein , Alan H Beggs , Britt-Sabina Löscher , Andre Franke , Braden Boone , Shawn E Levy , Katrin Õunap , Sander Pajusalu , Matt Huentelman , Keri Ramsey , Marcus Naymik , Vinodh Narayanan , Narayanan Veeraraghavan , Paul Billings , Martin G Reese , Mark Yandell , Stephen F Kingsmore

Monogenic variants in dystonia: an exome-wide sequencing study.

The Lancet. Neurology
Avec: Michael Zech , Robert Jech , Sylvia Boesch , Matej Škorvánek , Sandrina Weber , Matias Wagner , Chen Zhao , Angela Jochim , Ján Necpál , Yasemin Dincer , Katharina Vill , Felix Distelmaier , Malgorzata Stoklosa , Martin Krenn , Stephan Grunwald , Tobias Bock-Bierbaum , Anna Fečíková , Petra Havránková , Jan Roth , Iva Příhodová , Miriam Adamovičová , Olga Ulmanová , Karel Bechyně , Pavlína Danhofer , Branislav Veselý , Vladimír Haň , Petra Pavelekova , Zuzana Gdovinová , Tobias Mantel , Tobias Meindl , Alexandra Sitzberger , Sebastian Schröder , Astrid Blaschek , Timo Roser , Michaela V Bonfert , Edda Haberlandt , Barbara Plecko , Birgit Leineweber , Steffen Berweck , Thomas Herberhold , Berthold Langguth , Jana Švantnerová , Michal Minár , Gonzalo Alonso Ramos-Rivera , Monica H Wojcik , Sander Pajusalu , Katrin Õunap , Ulrich A Schatz , Laura Pölsler , Ivan Milenkovic , Franco Laccone , Veronika Pilshofer , Roberto Colombo , Steffi Patzer , Arcangela Iuso , Julia Vera , Monica Troncoso , Fang Fang , Holger Prokisch , Friederike Wilbert , Matthias Eckenweiler , Elisabeth Graf , Dominik S Westphal , Korbinian M Riedhammer , Theresa Brunet , Bader Alhaddad , Riccardo Berutti , Tim M Strom , Martin Hecht , Matthias Baumann , Marc Wolf , Aida Telegrafi , Richard E Person , Francisca Millan Zamora , Lindsay B Henderson , David Weise , Thomas Musacchio , Jens Volkmann , Anna Szuto , Jessica Becker , Kirsten Cremer , Thomas Sycha , Fritz Zimprich , Verena Kraus , Christine Makowski , Pedro Gonzalez-Alegre , Tanya M Bardakjian , Laurie J Ozelius , Annalisa Vetro , Renzo Guerrini , Esther Maier , Ingo Borggraefe , Alice Kuster , Saskia B Wortmann , Annette Hackenberg , Robert Steinfeld , Birgit Assmann , Christian Staufner , Thomas Opladen , Evžen Růžička , Ronald D Cohn , David Dyment , Wendy K Chung , Hartmut Engels , Andres Ceballos-Baumann , Rafal Ploski , Oliver Daumke , Bernhard Haslinger , Volker Mall , Konrad Oexle , Juliane Winkelmann

Histone H3.3 beyond cancer: Germline mutations in

Science advances
Avec: Laura Bryant , Dong Li , Samuel G Cox , Dylan Marchione , Evan F Joiner , Khadija Wilson , Kevin Janssen , Pearl Lee , Michael E March , Divya Nair , Elliott Sherr , Brieana Fregeau , Klaas J Wierenga , Alexandrea Wadley , Grazia M S Mancini , Nina Powell-Hamilton , Jiddeke van de Kamp , Theresa Grebe , John Dean , Alison Ross , Heather P Crawford , Zoe Powis , Megan T Cho , Marcia C Willing , Linda Manwaring , Rachel Schot , Caroline Nava , Alexandra Afenjar , Davor Lessel , Matias Wagner , Thomas Klopstock , Juliane Winkelmann , Claudia B Catarino , Kyle Retterer , Jane L Schuette , Jeffrey W Innis , Amy Pizzino , Sabine Lüttgen , Jonas Denecke , Tim M Strom , Kristin G Monaghan , Auteur inconnu , Zuo-Fei Yuan , Holly Dubbs , Renee Bend , Jennifer A Lee , Michael J Lyons , Julia Hoefele , Roman Günthner , Heiko Reutter , Boris Keren , Kelly Radtke , Omar Sherbini , Cameron Mrokse , Katherine L Helbig , Sylvie Odent , Benjamin Cogne , Sandra Mercier , Stephane Bezieau , Thomas Besnard , Sebastien Kury , Richard Redon , Karit Reinson , Monica H Wojcik , Katrin Õunap , Pilvi Ilves , A Micheil Innes , Kristin D Kernohan , Auteur inconnu , Gregory Costain , M Stephen Meyn , David Chitayat , Elaine Zackai , Anna Lehman , Hilary Kitson , Auteur inconnu , Martin G Martin , Julian A Martinez-Agosto , Auteur inconnu , Stan F Nelson , Christina G S Palmer , Jeanette C Papp , Neil H Parker , Janet S Sinsheimer , Eric Vilain , Jijun Wan , Amanda J Yoon , Allison Zheng , Elise Brimble , Giovanni Battista Ferrero , Francesca Clementina Radio , Diana Carli , Sabina Barresi , Alfredo Brusco , Marco Tartaglia , Jennifer Muncy Thomas , Luis Umana , Marjan M Weiss , Garrett Gotway , K E Stuurman , Michelle L Thompson , Kirsty McWalter , Constance T R M Stumpel , Servi J C Stevens , Alexander P A Stegmann , Kristian Tveten , Arve Vøllo , Trine Prescott , Christina Fagerberg , Lone Walentin Laulund , Martin J Larsen , Melissa Byler , Robert Roger Lebel , Anna C Hurst , Joy Dean , Samantha A Schrier Vergano , Jennifer Norman , Saadet Mercimek-Andrews , Juanita Neira , Margot I Van Allen , Nicola Longo , Elizabeth Sellars , Raymond J Louie , Sara S Cathey , Elly Brokamp , Delphine Heron , Molly Snyder , Adeline Vanderver , Celeste Simon , Xavier de la Cruz , Natália Padilla , J Gage Crump , Wendy Chung , Benjamin Garcia , Hakon H Hakonarson , Elizabeth J Bhoj

Truncating SRCAP variants outside the Floating-Harbor syndrome locus cause a distinct neurodevelopmental disorder with a specific DNA methylation signature.

American journal of human genetics
Avec: Dmitrijs Rots , Eric Chater-Diehl , Alexander J M Dingemans , Sarah J Goodman , Michelle T Siu , Cheryl Cytrynbaum , Sanaa Choufani , Ny Hoang , Susan Walker , Zain Awamleh , Joshua Charkow , Stephen Meyn , Rolph Pfundt , Tuula Rinne , Thatjana Gardeitchik , Bert B A de Vries , A Chantal Deden , Erika Leenders , Michael Kwint , Constance T R M Stumpel , Servi J C Stevens , Jeroen R Vermeulen , Jeske V T van Harssel , Danielle G M Bosch , Koen L I van Gassen , Ellen van Binsbergen , Christa M de Geus , Hein Brackel , Maja Hempel , Davor Lessel , Jonas Denecke , Anne Slavotinek , Jonathan Strober , Amy Crunk , Leandra Folk , Ingrid M Wentzensen , Hui Yang , Fanggeng Zou , Francisca Millan , Richard Person , Yili Xie , Shuxi Liu , Lilian B Ousager , Martin Larsen , Laura Schultz-Rogers , Eva Morava , Eric W Klee , Ian R Berry , Jennifer Campbell , Kristin Lindstrom , Brianna Pruniski , Ann M Neumeyer , Jessica A Radley , Chanika Phornphutkul , Berkley Schmidt , William G Wilson , Katrin Õunap , Karit Reinson , Sander Pajusalu , Arie van Haeringen , Claudia Ruivenkamp , Roos Cuperus , Fernando Santos-Simarro , María Palomares-Bralo , Marta Pacio-Míguez , Alyssa Ritter , Elizabeth Bhoj , Elin Tønne , Kristian Tveten , Gerarda Cappuccio , Nicola Brunetti-Pierri , Leah Rowe , Jason Bunn , Margarita Saenz , Konrad Platzer , Mareike Mertens , Oana Caluseriu , Małgorzata J M Nowaczyk , Ronald D Cohn , Peter Kannu , Ebba Alkhunaizi , David Chitayat , Stephen W Scherer , Han G Brunner , Lisenka E L M Vissers , Tjitske Kleefstra , David A Koolen , Rosanna Weksberg

Recommendations for reporting results of diagnostic genomic testing.

European journal of human genetics : EJHG
Avec: Zandra C Deans , Joo Wook Ahn , Isabel M Carreira , Elisabeth Dequeker , Mick Henderson , Luca Lovrecic , Katrin Õunap , Melody Tabiner , Rebecca Treacy , Christi J van Asperen

Single-Cell Epigenomics and Functional Fine-Mapping of Atherosclerosis GWAS Loci.

Circulation research
Avec: Tiit Örd , Kadri Õunap , Lindsey K Stolze , Redouane Aherrahrou , Valtteri Nurminen , Anu Toropainen , Ilakya Selvarajan , Tapio Lönnberg , Einari Aavik , Seppo Ylä-Herttuala , Mete Civelek , Casey E Romanoski , Minna U Kaikkonen

Meta-Analysis of Smooth Muscle Lineage Transcriptomes in Atherosclerosis and Their Relationships to In Vitro Models.

Immunometabolism
Avec: Austin C Conklin , Hitoo Nishi , Florencia Schlamp , Tiit Örd , Kadri Õunap , Minna U Kaikkonen , Edward A Fisher , Casey E Romanoski

Precise, Genotype-First Breast Cancer Prevention: Experience With Transferring Monogenic Findings From a Population Biobank to the Clinical Setting.

Frontiers in genetics
Avec: Hannes Jürgens , Laura Roht , Liis Leitsalu , Margit Nõukas , Marili Palover , Tiit Nikopensius , Anu Reigo , Mart Kals , Kersti Kallak , Riina Kütner , Kai Budrikas , Saskia Kuusk , Vahur Valvere , Piret Laidre , Kadri Toome , Kadri Rekker , Mikk Tooming , Ülle Murumets , Tiina Kahre , Krista Kruuv-Käo , Katrin Õunap , Peeter Padrik , Andres Metspalu , Tõnu Esko , Krista Fischer , Neeme Tõnisson

Natural history of KBG syndrome in a large European cohort.

Human molecular genetics
Avec: Lorenzo Loberti , Lucia Pia Bruno , Stefania Granata , Gabriella Doddato , Sara Resciniti , Francesca Fava , Michele Carullo , Elisa Rahikkala , Guillaume Jouret , Leonie A Menke , Damien Lederer , Pascal Vrielynck , Lukáš Ryba , Nicola Brunetti-Pierri , Amaia Lasa-Aranzasti , Anna Maria Cueto-González , Laura Trujillano , Irene Valenzuela , Eduardo F Tizzano , Alessandro Mauro Spinelli , Irene Bruno , Aurora Currò , Franco Stanzial , Francesco Benedicenti , Diego Lopergolo , Filippo Maria Santorelli , Constantia Aristidou , George A Tanteles , Isabelle Maystadt , Tinatin Tkemaladze , Tiia Reimand , Helen Lokke , Katrin Õunap , Maria K Haanpää , Andrea Holubová , Veronika Zoubková , Martin Schwarz , Riina Žordania , Kai Muru , Laura Roht , Annika Tihveräinen , Rita Teek , Ulvi Thomson , Isis Atallah , Andrea Superti-Furga , Sabrina Buoni , Roberto Canitano , Valeria Scandurra , Annalisa Rossetti , Salvatore Grosso , Roberta Battini , Margherita Baldassarri , Maria Antonietta Mencarelli , Caterina Lo Rizzo , Mirella Bruttini , Francesca Mari , Francesca Ariani , Alessandra Renieri , Anna Maria Pinto

A clustering of heterozygous missense variants in the crucial chromatin modifier WDR5 defines a new neurodevelopmental disorder.

HGG advances
Avec: Lot Snijders Blok , Jolijn Verseput , Dmitrijs Rots , Hanka Venselaar , A Micheil Innes , Connie Stumpel , Katrin Õunap , Karit Reinson , Eleanor G Seaby , Shane McKee , Barbara Burton , Katherine Kim , Johanna M van Hagen , Quinten Waisfisz , Pascal Joset , Katharina Steindl , Anita Rauch , Dong Li , Elaine H Zackai , Sarah E Sheppard , Beth Keena , Hakon Hakonarson , Andreas Roos , Nicolai Kohlschmidt , Anna Cereda , Maria Iascone , Erika Rebessi , Kristin D Kernohan , Philippe M Campeau , Francisca Millan , Jesse A Taylor , Hanns Lochmüller , Martin R Higgs , Amalia Goula , Birgitta Bernhard , Danita J Velasco , Andrew A Schmanski , Zornitza Stark , Lyndon Gallacher , Lynn Pais , Paul C Marcogliese , Shinya Yamamoto , Nicholas Raun , Taryn E Jakub , Jamie M Kramer , Joery den Hoed , Simon E Fisher , Han G Brunner , Tjitske Kleefstra

WNT signalling control by KDM5C during development affects cognition.

Nature
Avec: Violetta Karwacki-Neisius , Ahram Jang , Engin Cukuroglu , Albert Tai , Alan Jiao , Danilo Predes , Joon Yoon , Emily Brookes , Jiekai Chen , Aimee Iberg , Florian Halbritter , Katrin Õunap , Jozef Gecz , Thorsten M Schlaeger , Shannan Ho Sui , Jonathan Göke , Xi He , Maria K Lehtinen , Scott L Pomeroy , Yang Shi

Brain function in classic galactosemia, a galactosemia network (GalNet) members review.

Frontiers in genetics
Avec: Bianca Panis , E Naomi Vos , Ivo Barić , Annet M Bosch , Martijn C G J Brouwers , Alberto Burlina , David Cassiman , David J Coman , María L Couce , Anibh M Das , Didem Demirbas , Aurélie Empain , Matthias Gautschi , Olga Grafakou , Stephanie Grunewald , Sandra D K Kingma , Ina Knerr , Elisa Leão-Teles , Dorothea Möslinger , Elaine Murphy , Katrin Õunap , Adriana Pané , Sabrina Paci , Rossella Parini , Isabel A Rivera , Sabine Scholl-Bürgi , Ida V D Schwartz , Triantafyllia Sdogou , Loai A Shakerdi , Anastasia Skouma , Karolina M Stepien , Eileen P Treacy , Susan Waisbren , Gerard T Berry , M Estela Rubio-Gozalbo

Coronary Artery Disease Risk Variant Dampens the Expression of CALCRL by Reducing HSF Binding to Shear Stress Responsive Enhancer in Endothelial Cells In Vitro.

Arteriosclerosis, thrombosis, and vascular biology
Avec: Ilakya Selvarajan , Miika Kiema , Ru-Ting Huang , Jin Li , Jiayu Zhu , Petri Pölönen , Tiit Örd , Kadri Õunap , Mehvash Godiwala , Anna Kathryn Golebiewski , Aarthi Ravindran , Kiira Mäklin , Anu Toropainen , Lindsey K Stolze , Maximiliano Arce , Peetra U Magnusson , Stephen White , Casey E Romanoski , Merja Heinäniemi , Johanna P Laakkonen , Yun Fang , Minna Kaikkonen-Määttä

Multi-locus imprinting disturbance (MLID): interim joint statement for clinical and molecular diagnosis.

Clinical epigenetics
Avec: Deborah J G Mackay , Gabriella Gazdagh , David Monk , Frederic Brioude , Eloise Giabicani , Izabela M Krzyzewska , Jennifer M Kalish , Saskia M Maas , Masayo Kagami , Jasmin Beygo , Tiina Kahre , Jair Tenorio-Castano , Laima Ambrozaitytė , Birutė Burnytė , Flavia Cerrato , Justin H Davies , Giovanni Battista Ferrero , Olga Fjodorova , Africa Manero-Azua , Arrate Pereda , Silvia Russo , Pierpaola Tannorella , Karen I Temple , Katrin Õunap , Andrea Riccio , Guiomar Perez de Nanclares , Eamonn R Maher , Pablo Lapunzina , Irène Netchine , Thomas Eggermann , Jet Bliek , Zeynep Tümer

Spatially clustering de novo variants in CYFIP2, encoding the cytoplasmic FMRP interacting protein 2, cause intellectual disability and seizures.

European journal of human genetics : EJHG
Avec: Markus Zweier , Anaïs Begemann , Kirsty McWalter , Megan T Cho , Lucia Abela , Siddharth Banka , Bettina Behring , Andrea Berger , Chester W Brown , Maryline Carneiro , Jiani Chen , Gregory M Cooper , Auteur inconnu , Candice R Finnila , Maria J Guillen Sacoto , Alex Henderson , Ulrike Hüffmeier , Pascal Joset , Bronwyn Kerr , Gaetan Lesca , Gloria S Leszinski , John Henry McDermott , Meira R Meltzer , Kristin G Monaghan , Roya Mostafavi , Katrin Õunap , Barbara Plecko , Zöe Powis , Gabriela Purcarin , Tiia Reimand , Korbinian M Riedhammer , John M Schreiber , Deepa Sirsi , Klaas J Wierenga , Monica H Wojcik , Sorina M Papuc , Katharina Steindl , Heinrich Sticht , Anita Rauch

A prenatally diagnosed case of Meckel-Gruber syndrome with novel compound heterozygous pathogenic variants in the TXNDC15 gene.

Molecular genetics & genomic medicine
Avec: Konstantin Ridnõi , Marek Šois , Eve Vaidla , Sander Pajusalu , Larissa Kelder , Tiia Reimand , Katrin Õunap

International clinical guidelines for the management of phosphomannomutase 2-congenital disorders of glycosylation: Diagnosis, treatment and follow up.

Journal of inherited metabolic disease
Avec: Ruqaiah Altassan , Romain Péanne , Jaak Jaeken , Rita Barone , Muad Bidet , Delphine Borgel , Sandra Brasil , David Cassiman , Anna Cechova , David Coman , Javier Corral , Joana Correia , María Eugenia de la Morena-Barrio , Pascale de Lonlay , Vanessa Dos Reis , Carlos R Ferreira , Agata Fiumara , Rita Francisco , Hudson Freeze , Simone Funke , Thatjana Gardeitchik , Matthijs Gert , Muriel Girad , Marisa Giros , Stephanie Grünewald , Trinidad Hernández-Caselles , Tomas Honzik , Marlen Hutter , Donna Krasnewich , Christina Lam , Joy Lee , Dirk Lefeber , Dorinda Marques-de-Silva , Antonio F Martinez , Hossein Moravej , Katrin Õunap , Carlota Pascoal , Tiffany Pascreau , Marc Patterson , Dulce Quelhas , Kimiyo Raymond , Peymaneh Sarkhail , Manuel Schiff , Małgorzata Seroczyńska , Mercedes Serrano , Nathalie Seta , Jolanta Sykut-Cegielska , Christian Thiel , Federic Tort , Mari-Anne Vals , Paula Videira , Peter Witters , Renate Zeevaert , Eva Morava

Genome sequencing identifies a homozygous inversion disrupting QDPR as a cause for dihydropteridine reductase deficiency.

Molecular genetics & genomic medicine
Avec: Hardo Lilleväli , Sander Pajusalu , Monica H Wojcik , Julia Goodrich , Ryan L Collins , Ülle Murumets , Pille Tammur , Nenad Blau , Kersti Lilleväli , Katrin Õunap

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
Avec: 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 , Auteur inconnu , 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 , Amélie 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 Hevner , Christel Thauvin-Robinet

New insights into the clinical and molecular spectrum of the novel CYFIP2-related neurodevelopmental disorder and impairment of the WRC-mediated actin dynamics.

Genetics in medicine : official journal of the American College of Medical Genetics
Avec: Anaïs Begemann , Heinrich Sticht , Amber Begtrup , Antonio Vitobello , Laurence Faivre , Siddharth Banka , Bader Alhaddad , Reza Asadollahi , Jessica Becker , Tatjana Bierhals , Kathleen E Brown , Ange-Line Bruel , Theresa Brunet , Maryline Carneiro , Kirsten Cremer , Robert Day , Anne-Sophie Denommé-Pichon , Dave A Dyment , Hartmut Engels , Rachel Fisher , Elaine S Goh , M J Hajianpour , Lucia Ribeiro Machado Haertel , Nadine Hauer , Maja Hempel , Theresia Herget , Jessika Johannsen , Cornelia Kraus , Gwenaël Le Guyader , Gaetan Lesca , Frédéric Tran Mau-Them , John Henry McDermott , Kirsty McWalter , Pierre Meyer , Katrin Õunap , Bernt Popp , Tiia Reimand , Korbinian M Riedhammer , Martina Russo , Lynette G Sadleir , Margarita Saenz , Manuel Schiff , Elisabeth Schuler , Steffen Syrbe , Amelie Theresa Van der Ven , Alain Verloes , Marjolaine Willems , Christiane Zweier , Katharina Steindl , Markus Zweier , Anita Rauch

Atypical presentation of Arts syndrome due to a novel hemizygous loss-of-function variant in the

Molecular genetics and metabolism reports
Avec: Sanna Puusepp , Karit Reinson , Sander Pajusalu , André B P van Kuilenburg , Doreen Dobritzsch , Jeroen Roelofsen , Werner Stenzel , Katrin Õunap

Alternative genomic diagnoses for individuals with a clinical diagnosis of Dubowitz syndrome.

American journal of medical genetics. Part A
Avec: David A Dyment , Anne O'Donnell-Luria , Pankaj B Agrawal , Zeynep Coban Akdemir , Kyrieckos A Aleck , Danny Antaki , Hind Al Sharhan , Ping-Yee B Au , Hatip Aydin , Alan H Beggs , Kaya Bilguvar , Eric Boerwinkle , Harrison Brand , Catherine A Brownstein , Steve Buyske , Bernard Chodirker , Jungmin Choi , Albert E Chudley , Carol L Clericuzio , Gerald F Cox , Cynthia Curry , Elke de Boer , Bert B A de Vries , Kathryn Dunn , Cullen M Dutmer , Eleina M England , Jill A Fahrner , Bilgen B Geckinli , Casie A Genetti , Alper Gezdirici , William T Gibson , Joseph G Gleeson , Cheryl R Greenberg , April Hall , Ada Hamosh , Taila Hartley , Shalini N Jhangiani , Ender Karaca , Kristin Kernohan , Julie L Lauzon , M E Suzanne Lewis , R Brian Lowry , Francesc López-Giráldez , Tara C Matise , Jennifer McEvoy-Venneri , Brenda McInnes , Aziz Mhanni , Sixto Garcia Minaur , Jukka Moilanen , An Nguyen , Malgorzata J M Nowaczyk , Jennifer E Posey , Katrin Õunap , Davut Pehlivan , Sander Pajusalu , Lynette S Penney , Timothy Poterba , Paolo Prontera , Maria Juliana Rodovalho Doriqui , Sarah L Sawyer , Nara Sobreira , Valentina Stanley , Deniz Torun , David Wargowski , P Dane Witmer , Isaac Wong , Jinchuan Xing , Maha S Zaki , Yeting Zhang , Auteur inconnu , Auteur inconnu , Kym M Boycott , Michael J Bamshad , Deborah A Nickerson , Elizabeth E Blue , A Micheil Innes

Leukoencephalopathy with calcifications and cysts: Genetic and phenotypic spectrum.

American journal of medical genetics. Part A
Avec: 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 A 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

Refining the 9q34.3 microduplication syndrome reveals mild neurodevelopmental features associated with a distinct global DNA methylation profile.

Clinical genetics
Avec: 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

Unique Capabilities of Genome Sequencing for Rare Disease Diagnosis.

medRxiv : the preprint server for health sciences
Avec: Monica H 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 Christodoulou , 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

The prevalence of inherited metabolic disorders in Estonian population over 30 years: A significant increase during study period.

JIMD reports
Avec: Elis Tiivoja , Karit Reinson , Kai Muru , Kristi Rähn , Kristina Muhu , Laura Mauring , Tiina Kahre , Sander Pajusalu , Katrin Õunap

AXIN2-related oligodontia-colorectal cancer syndrome with cleft palate as a possible new feature.

Molecular genetics & genomic medicine
Avec: 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

The neurodevelopmental and facial phenotype in individuals with a TRIP12 variant.

European journal of human genetics : EJHG
Avec: Mio Aerden , Anne-Sophie Denommé-Pichon , Dominique Bonneau , Ange-Line Bruel , Julian Delanne , Bénédicte Gérard , Benoît Mazel , Christophe Philippe , Lucile Pinson , Clément Prouteau , Audrey Putoux , Frédéric Tran Mau-Them , Éléonore Viora-Dupont , Antonio Vitobello , Alban Ziegler , Amélie Piton , Bertrand Isidor , Christine Francannet , Pierre-Yves Maillard , Sophie Julia , Anais Philippe , Elise Schaefer , Saskia Koene , Claudia Ruivenkamp , Mariette Hoffer , Eric Legius , Miel Theunis , Boris Keren , Julien Buratti , Perrine Charles , Thomas Courtin , Mala Misra-Isrie , Mieke 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

Untargeted metabolomics profiling in pediatric patients and adult populations indicates a connection between lipid imbalance and epilepsy.

medRxiv : the preprint server for health sciences
Avec: Kaisa Teele Oja , Mihkel Ilisson , Karit Reinson , Kai Muru , Tiia Reimand , Hedi Peterson , Dmytro Fishman , Tõnu Esko , Toomas Haller , Jaanika Kronberg , Monica H Wojcik , Adam Kennedy , Gregory Michelotti , Anne O'Donnell-Luria , Eve Õiglane-Šlik , Sander Pajusalu , Katrin Õunap

Bi-allelic loss-of-function variants in WBP4, encoding a spliceosome protein, result in a variable neurodevelopmental syndrome.

American journal of human genetics
Avec: Eden Engal , Kaisa Teele Oja , Reza Maroofian , Ophir Geminder , Thuy-Linh Le , Pauline Marzin , Anne Guimier , Evyatar Mor , Naama Zvi , Naama Elefant , Maha S Zaki , Joseph G Gleeson , Kai Muru , Sander Pajusalu , Monica H Wojcik , Divya Pachat , Marwa Abd Elmaksoud , Won Chan Jeong , Hane Lee , Peter Bauer , Giovanni Zifarelli , Henry Houlden , Muhannad Daana , Orly Elpeleg , Jeanne Amiel , Stanislas Lyonnet , Christopher T Gordon , Tamar Harel , Katrin Õunap , Maayan Salton , Hagar Mor-Shaked

Distinct effects on mRNA export factor GANP underlie neurological disease phenotypes and alter gene expression depending on intron content.

Human molecular genetics
Avec: Rosa Woldegebriel , Jouni Kvist , Noora Andersson , Katrin Õunap , Karit Reinson , Monica H Wojcik , Emilia K Bijlsma , Mariëtte J V Hoffer , Monique M Ryan , Zornitza Stark , Maie Walsh , Inge Cuppen , Marie-Jose H van den Boogaard , Diana Bharucha-Goebel , Sandra Donkervoort , Sara Winchester , Roberto Zori , Carsten G Bönnemann , Reza Maroofian , Emer O'Connor , Henry Houlden , Fang Zhao , Olli Carpén , Matthew White , Jemeen Sreedharan , Murray Stewart , Emil Ylikallio , Henna Tyynismaa

Aberrant Function of the C-Terminal Tail of HIST1H1E Accelerates Cellular Senescence and Causes Premature Aging.

American journal of human genetics
Avec: Elisabetta Flex , Simone Martinelli , Anke Van Dijck , Andrea Ciolfi , Serena Cecchetti , Elisa Coluzzi , Luca Pannone , Cristina Andreoli , Francesca Clementina Radio , Simone Pizzi , Giovanna Carpentieri , Alessandro Bruselles , Giuseppina Catanzaro , Lucia Pedace , Evelina Miele , Elena Carcarino , Xiaoyan Ge , Chieko Chijiwa , M E Suzanne Lewis , Marije Meuwissen , Sandra Kenis , Nathalie Van der Aa , Austin Larson , Kathleen Brown , Melissa P Wasserstein , Brian G Skotko , Amber Begtrup , Richard Person , Maria Karayiorgou , J Louw Roos , Koen L Van Gassen , Marije Koopmans , Emilia K Bijlsma , Gijs W E Santen , Daniela Q C M Barge-Schaapveld , Claudia A L Ruivenkamp , Mariette J V Hoffer , Seema R Lalani , Haley Streff , William J Craigen , Brett H Graham , Annette P M van den Elzen , Daan J Kamphuis , Katrin Õunap , Karit Reinson , Sander Pajusalu , Monica H Wojcik , Clara Viberti , Cornelia Di Gaetano , Enrico Bertini , Simona Petrucci , Alessandro De Luca , Rossella Rota , Elisabetta Ferretti , Giuseppe Matullo , Bruno Dallapiccola , Antonella Sgura , Magdalena Walkiewicz , R Frank Kooy , Marco Tartaglia

Defective DNA Polymerase α-Primase Leads to X-Linked Intellectual Disability Associated with Severe Growth Retardation, Microcephaly, and Hypogonadism.

American journal of human genetics
Avec: Hilde Van Esch , Rita Colnaghi , Kathleen Freson , Petro Starokadomskyy , Andreas Zankl , Liesbeth Backx , Iga Abramowicz , Emily Outwin , Luis Rohena , Claire Faulkner , Gary M Leong , Ruth A Newbury-Ecob , Rachel C Challis , Katrin Õunap , Jacques Jaeken , Eve Seuntjens , Koen Devriendt , Ezra Burstein , Karen J Low , Mark O'Driscoll

The natural history of classic galactosemia: lessons from the GalNet registry.

Orphanet journal of rare diseases
Avec: M E Rubio-Gozalbo , M Haskovic , A M Bosch , B Burnyte , A I Coelho , D Cassiman , M L Couce , C Dawson , D Demirbas , T Derks , F Eyskens , M T Forga , S Grunewald , J Häberle , M Hochuli , A Hubert , H H Huidekoper , P Janeiro , J Kotzka , I Knerr , P Labrune , Y E Landau , J G Langendonk , D Möslinger , D Müller-Wieland , E Murphy , K Õunap , D Ramadza , I A Rivera , S Scholl-Buergi , K M Stepien , A Thijs , C Tran , R Vara , G Visser , R Vos , M de Vries , S E Waisbren , M M Welsink-Karssies , S B Wortmann , M Gautschi , E P Treacy , G T Berry

Diverse phenotype in patients with complex I deficiency due to mutations in NDUFB11.

European journal of medical genetics
Avec: Karit Reinson , Reka Kovacs-Nagy , Eve Õiglane-Shlik , Sander Pajusalu , Margit Nõukas , Liesbeth T Wintjes , Frans C A van den Brandt , Maaike Brink , Till Acker , Uwe Ahting , Andreas Hahn , Anne Schänzer , Tobias B Haack , Richard J Rodenburg , Katrin Õunap

PEHO syndrome caused by compound heterozygote variants in ZNHIT3 gene.

European journal of medical genetics
Avec: Katrin Õunap , Kai Muru , Eve Õiglane-Shlik , Pilvi Ilves , Sander Pajusalu , Imbi Kuus , Monica H Wojcik , Tiia Reimand

Clustered mutations in the GRIK2 kainate receptor subunit gene underlie diverse neurodevelopmental disorders.

American journal of human genetics
Avec: Jacob R Stolz , Kendall M Foote , Hermine E Veenstra-Knol , Rolph Pfundt , Sanne W Ten Broeke , Nicole de Leeuw , Laura Roht , Sander Pajusalu , Reelika Part , Ionella Rebane , Katrin Õunap , Zornitza Stark , Edwin P Kirk , John A Lawson , Sebastian Lunke , John Christodoulou , Raymond J Louie , R Curtis Rogers , Jessica M Davis , A Micheil Innes , Xing-Chang Wei , Boris Keren , Cyril Mignot , Robert Roger Lebel , Steven M Sperber , Ai Sakonju , Nienke Dosa , Daniela Q C M Barge-Schaapveld , Cacha M P C D Peeters-Scholte , Claudia A L Ruivenkamp , Bregje W van Bon , Joanna Kennedy , Karen J Low , Sian Ellard , Lewis Pang , Joseph J Junewick , Paul R Mark , Gemma L Carvill , Geoffrey T Swanson

The Common Partner of Several Methyltransferases TRMT112 Regulates the Expression of N6AMT1 Isoforms in Mammalian Cells.

Biomolecules
Avec: Lilian Leetsi , Kadri Õunap , Aare Abroi , Reet Kurg

Human TRMT112-Methyltransferase Network Consists of Seven Partners Interacting with a Common Co-Factor.

International journal of molecular sciences
Avec: Baiba Brūmele , Margit Mutso , Lilian Telanne , Kadri Õunap , Karīna Spunde , Aare Abroi , Reet Kurg

Congenital disorder of glycosylation caused by starting site-specific variant in syntaxin-5.

Nature communications
Avec: Peter T A Linders , Eveline C F Gerretsen , Angel Ashikov , Mari-Anne Vals , Rinse de Boer , Natalia H Revelo , Richard Arts , Melissa Baerenfaenger , Fokje Zijlstra , Karin Huijben , Kimiyo Raymond , Kai Muru , Olga Fjodorova , Sander Pajusalu , Katrin Õunap , Martin Ter Beest , Dirk Lefeber , Geert van den Bogaart

POLRMT mutations impair mitochondrial transcription causing neurological disease.

Nature communications
Avec: 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

Integrative analysis of liver-specific non-coding regulatory SNPs associated with the risk of coronary artery disease.

American journal of human genetics
Avec: Ilakya Selvarajan , Anu Toropainen , Kristina M Garske , Maykel López Rodríguez , Arthur Ko , Zong Miao , Dorota Kaminska , Kadri Õunap , Tiit Örd , Aarthi Ravindran , Oscar H Liu , Pierre R Moreau , Ashik Jawahar Deen , Ville Männistö , Calvin Pan , Anna-Liisa Levonen , Aldons J Lusis , Sami Heikkinen , Casey E Romanoski , Jussi Pihlajamäki , Päivi Pajukanta , Minna U Kaikkonen

Biallelic variants in TSPOAP1, encoding the active-zone protein RIMBP1, cause autosomal recessive dystonia.

The Journal of clinical investigation
Avec: Niccolò E Mencacci , Marisa M Brockmann , Jinye Dai , Sander Pajusalu , Burcu Atasu , Joaquin Campos , Gabriela Pino , Paulina Gonzalez-Latapi , Christopher Patzke , Michael Schwake , Arianna Tucci , Alan Pittman , Javier Simon-Sanchez , Gemma L Carvill , Bettina Balint , Sarah Wiethoff , Thomas T Warner , Apostolos Papandreou , Audrey Soo , Reet Rein , Liis Kadastik-Eerme , Sanna Puusepp , Karit Reinson , Tiiu Tomberg , Hasmet Hanagasi , Thomas Gasser , Kailash P Bhatia , Manju A Kurian , Ebba Lohmann , Katrin Õunap , Christian Rosenmund , Thomas C Südhof , Nicholas W Wood , Dimitri Krainc , Claudio Acuna

Linkage-specific deubiquitylation by OTUD5 defines an embryonic pathway intolerant to genomic variation.

Science advances
Avec: 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 Bodurtha , Weiyi Mu , Kristin W Barañano , Noriko Miyake , Raymond Wang , Marlies Kempers , Tomoko Tamada , Yutaka Nishimura , Satoshi Okada , Tomoki Kosho , Ryan Dale , Apratim Mitra , Ellen Macnamara , Auteur inconnu , Naomichi Matsumoto , Johji Inazawa , Magdalena Walkiewicz , Katrin Õunap , Cynthia J Tifft , Ivona Aksentijevich , Daniel L Kastner , Pedro P Rocha , Achim Werner

Rare pathogenic variants in WNK3 cause X-linked intellectual disability.

Genetics in medicine : official journal of the American College of Medical Genetics
Avec: Sébastien Küry , Jinwei Zhang , Thomas Besnard , Alfonso Caro-Llopis , Xue Zeng , Stephanie M Robert , Sunday S Josiah , Emre Kiziltug , Anne-Sophie Denommé-Pichon , Benjamin Cogné , Adam J Kundishora , Le T Hao , Hong Li , Roger E Stevenson , Raymond J Louie , Wallid Deb , Erin Torti , Virginie Vignard , Kirsty McWalter , F Lucy Raymond , Farrah Rajabi , Emmanuelle Ranza , Detelina Grozeva , Stephanie A Coury , Xavier Blanc , Elise Brischoux-Boucher , Boris Keren , Katrin Õunap , Karit Reinson , Pilvi Ilves , Ingrid M Wentzensen , Eileen E Barr , Solveig Heide Guihard , Perrine Charles , Eleanor G Seaby , Kristin G Monaghan , Marlène Rio , Yolande van Bever , Marjon van Slegtenhorst , Wendy K Chung , Ashley Wilson , Delphine Quinquis , Flora Bréhéret , Kyle Retterer , Pierre Lindenbaum , Emmanuel Scalais , Lindsay Rhodes , Katrien Stouffs , Elaine M Pereira , Sara M Berger , Sarah S Milla , Ankita B Jaykumar , Melanie H Cobb , Shreyas Panchagnula , Phan Q Duy , Marie Vincent , Sandra Mercier , Brigitte Gilbert-Dussardier , Xavier Le Guillou , Séverine Audebert-Bellanger , Sylvie Odent , Sébastien Schmitt , Pierre Boisseau , Dominique Bonneau , Annick Toutain , Estelle Colin , Laurent Pasquier , Richard Redon , Arjan Bouman , Jill A Rosenfeld , Michael J Friez , Helena Pérez-Peña , Syed Raza Akhtar Rizvi , Shozeb Haider , Stylianos E Antonarakis , Charles E Schwartz , Francisco Martínez , Stéphane Bézieau , Kristopher T Kahle , Bertrand Isidor

De novo putative loss-of-function variants in TAF4 are associated with a neuro-developmental disorder.

Human mutation
Avec: 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

Réseau de co-auteurs

Sander Pajusalu 40 collaborations
Monica H Wojcik 22 collaborations
Karit Reinson 18 collaborations
None None 13 collaborations
Kai Muru 11 collaborations
Tiia Reimand 10 collaborations
Tiina Kahre 9 collaborations
Kadri Õunap 9 collaborations
Lynn Pais 8 collaborations
Anne O'Donnell-Luria 8 collaborations
Sandra Donkervoort 7 collaborations
Tiit Örd 7 collaborations
Eleanor G Seaby 6 collaborations
Rolph Pfundt 6 collaborations
Mari-Anne Vals 6 collaborations
Pilvi Ilves 6 collaborations
Vijay S Ganesh 6 collaborations
Ana Töpf 6 collaborations
Carsten G Bönnemann 6 collaborations
Volker Straub 6 collaborations
Kaisa Teele Oja 6 collaborations
Joseph G Gleeson 6 collaborations
Casie A Genetti 6 collaborations
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Laura Roht 6 collaborations
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Julia Goodrich 5 collaborations
Lyndon Gallacher 5 collaborations
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Zornitza Stark 5 collaborations
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Pierre R Moreau 3 collaborations
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Isaac Wong 3 collaborations
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Eve Õiglane-Shlik 3 collaborations
Korbinian M Riedhammer 3 collaborations
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Dmitrijs Rots 3 collaborations
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Ange-Line Bruel 3 collaborations
Frédéric Tran Mau-Them 3 collaborations
Anne-Sophie Denommé-Pichon 3 collaborations
David B Beck 2 collaborations
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Noriko Miyake 2 collaborations
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Mehmet Gundogdu 2 collaborations
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K Õunap 2 collaborations
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