Lilian Bomme Ousager

Charlotte Brasch-Andersen 4 collaborations

Klaus Brusgaard 4 collaborations

Rolph Pfundt 3 collaborations

Anette Bygum 3 collaborations

Bertrand Isidor 2 collaborations

Han G Brunner 2 collaborations

Laurence Faivre 2 collaborations

Christophe Philippe 2 collaborations

Ieva Miceikaite 2 collaborations

Stine Bjørn Gram 2 collaborations

Eric W Klee 2 collaborations

Constance T R M Stumpel 2 collaborations

Servi J C Stevens 2 collaborations

Usha Kini 2 collaborations

Lilian B Ousager 2 collaborations

Anne Marie Jelsig 2 collaborations

Lone Sunde 2 collaborations

John Gásdal Karstensen 2 collaborations

Silvestre Cuinat 1 collaboration

Mathilde Nizon 1 collaboration

Alexander Stegmann 1 collaboration

Richard H van Jaarsveld 1 collaboration

Koen L van Gassen 1 collaboration

Jasper J van der Smagt 1 collaboration

Catharina M L Volker-Touw 1 collaboration

Sjoerd J B Holwerda 1 collaboration

Paulien A Terhal 1 collaboration

Sarah Schuhmann 1 collaboration

Georgia Vasileiou 1 collaboration

Mohamed Khalifa 1 collaboration

Alaa A Nugud 1 collaboration

Hemad Yasaei 1 collaboration

Wallid Deb 1 collaboration

Thomas Besnard 1 collaboration

Marleen E H Simon 1 collaboration

Karin Huijsdens-van Amsterdam 1 collaboration

Nienke E Verbeek 1 collaboration

Dena Matalon 1 collaboration

Natalie Dykzeul 1 collaboration

Shana White 1 collaboration

Elizabeth Spiteri 1 collaboration

Koen Devriendt 1 collaboration

Anneleen Boogaerts 1 collaboration

Marjolein Willemsen 1 collaboration

Margje Sinnema 1 collaboration

Bert B A De Vries 1 collaboration

Erica H Gerkes 1 collaboration

Kosuke Izumi 1 collaboration

Ian D Krantz 1 collaboration

Zhou L Xu 1 collaboration

Jill R Murrell 1 collaboration

Irene Valenzuela 1 collaboration

Ivon Cusco 1 collaboration

Eulàlia Rovira-Moreno 1 collaboration

Yaping Yang 1 collaboration

Varoona Bizaoui 1 collaboration

Olivier Patat 1 collaboration

Frederic Tran-Mau-Them 1 collaboration

Antonio Vitobello 1 collaboration

Anne-Sophie Denommé-Pichon 1 collaboration

Stéphane Bezieau 1 collaboration

Benjamin Cogné 1 collaboration

Christina Fagerberg 1 collaboration

Pernille Mathiesen Torring 1 collaboration

Britta Schlott Kristiansen 1 collaboration

Qin Hao 1 collaboration

Lene Sperling 1 collaboration

Mette Holm Ibsen 1 collaboration

Katrin Löser 1 collaboration

Eske Alf Bendsen 1 collaboration

Martin Jakob Larsen 1 collaboration

Anne Sofie Fredberg Jørgensen 1 collaboration

Julian Delanne 1 collaboration

Magaly Lecat 1 collaboration

Patrick R Blackburn 1 collaboration

Sander Stegmann 1 collaboration

Caroline Nava 1 collaboration

Delphine Heron 1 collaboration

Boris Keren 1 collaboration

Sonal Mahida 1 collaboration

Sakkubai Naidu 1 collaboration

Dusica Babovic-Vuksanovic 1 collaboration

Johanna C Herkert 1 collaboration

Pernille M Torring 1 collaboration

Maria Kibæk 1 collaboration

Isabelle De Bie 1 collaboration

Yvonne M C Hendriks 1 collaboration

Renee Bend 1 collaboration

Hannah Warren 1 collaboration

Steven A Skinner 1 collaboration

Michael J Lyons 1 collaboration

Charlotte Pöe 1 collaboration

Martin Chevarin 1 collaboration

Thibaud Jouan 1 collaboration

Aurore Garde 1 collaboration

Quentin Thomas 1 collaboration

Paul Kuentz 1 collaboration

Emilie Tisserant 1 collaboration

Yannis Duffourd 1 collaboration

Christel Thauvin-Robinet 1 collaboration

Sofie Lieberoth 1 collaboration

Sheetal Kumar 1 collaboration

Lillian B Ousager 1 collaboration

Regina C Betz 1 collaboration

S B Gram 1 collaboration

J Bjerrelund 1 collaboration

A M Jelsig 1 collaboration

A Bygum 1 collaboration

C Leboeuf-Yde 1 collaboration

L B Ousager 1 collaboration

Ole Magnus Bjorgaas Helle 1 collaboration

Torkild Høieggen Pedersen 1 collaboration

Mads Thomassen 1 collaboration

Jens Michael Hertz 1 collaboration

Aia Elise Jønch 1 collaboration

Elise Douard 1 collaboration

Clara Moreau 1 collaboration

Anke Van Dijck 1 collaboration

Marzia Passeggeri 1 collaboration

Frank Kooy 1 collaboration

Jacques Puechberty 1 collaboration

Carolyn Campbell 1 collaboration

Damien Sanlaville 1 collaboration

Henrietta Lefroy 1 collaboration

Sonia Richetin 1 collaboration

Aurelie Pain 1 collaboration

David Geneviève 1 collaboration

Cédric Le Caignec 1 collaboration

James Lespinasse 1 collaboration

Anne-Bine Skytte 1 collaboration

Christiane Zweier 1 collaboration

Jean-Hubert Caberg 1 collaboration

Marie-Ange Delrue 1 collaboration

Rikke Steensbjerre Møller 1 collaboration

Anders Bojesen 1 collaboration

Helle Hjalgrim 1 collaboration

Emmanuelle Lemyre 1 collaboration

Sébastien Jacquemont 1 collaboration

None None 1 collaboration

Katrine S Aagaard 1 collaboration

Martin J Larsen 1 collaboration

Anette D Kjeldsen 1 collaboration

Emilie B Lester 1 collaboration

Pernille M Tørring 1 collaboration

Thomas van Overeem Hansen 1 collaboration

Lene Bjerring Gede 1 collaboration

Niels Qvist 1 collaboration

Lise-Lotte Christensen 1 collaboration

Charlotte Kvist Lautrup 1 collaboration

Jane Hübertz Frederiksen 1 collaboration

Ken Ljungmann 1 collaboration

Birgitte Bertelsen 1 collaboration

Laus Wullum 1 collaboration

Tine Plato Kuhlmann 1 collaboration

Johan Burisch 1 collaboration

Cagla Margit Øzdemir 1 collaboration

Mette Mølby Nielsen 1 collaboration

Jani Liimatta 1 collaboration

Clarissa D Voegel 1 collaboration

Rawda Naamneh Elzenaty 1 collaboration

Victor S Wasehuus 1 collaboration

Marie Lind-Holst 1 collaboration

Marie Juul Ornstrup 1 collaboration

Christa E Flück 1 collaboration

Claus H Gravholt 1 collaboration

Ameni Kdissa 1 collaboration

Mahdi Ksiaa 1 collaboration

Lamia Golli 1 collaboration

Olfa Hallara 1 collaboration

Wiem Manoubi 1 collaboration

Rihab Ben Seghaier 1 collaboration

Labiba Adala 1 collaboration

Yosra Halleb 1 collaboration

Ali Saad 1 collaboration

Fahmi Hmila 1 collaboration

Moez Gribaa 1 collaboration

Zahraa Chayed 1 collaboration

Lone Krøldrup Kristensen 1 collaboration

Karina Rønlund 1 collaboration

Dmitrijs Rots 1 collaboration

Eric Chater-Diehl 1 collaboration

Alexander J M Dingemans 1 collaboration

Sarah J Goodman 1 collaboration

Michelle T Siu 1 collaboration

Cheryl Cytrynbaum 1 collaboration

Sanaa Choufani 1 collaboration

Ny Hoang 1 collaboration

Susan Walker 1 collaboration

Zain Awamleh 1 collaboration

Joshua Charkow 1 collaboration

Stephen Meyn 1 collaboration

Tuula Rinne 1 collaboration

Thatjana Gardeitchik 1 collaboration

Bert B A de Vries 1 collaboration

A Chantal Deden 1 collaboration

Erika Leenders 1 collaboration

Michael Kwint 1 collaboration

Jeroen R Vermeulen 1 collaboration

Jeske V T van Harssel 1 collaboration

Danielle G M Bosch 1 collaboration

Koen L I van Gassen 1 collaboration

Ellen van Binsbergen 1 collaboration

Christa M de Geus 1 collaboration

Hein Brackel 1 collaboration

Maja Hempel 1 collaboration

Davor Lessel 1 collaboration

Jonas Denecke 1 collaboration

Anne Slavotinek 1 collaboration

Jonathan Strober 1 collaboration

Amy Crunk 1 collaboration

Leandra Folk 1 collaboration

Ingrid M Wentzensen 1 collaboration

Hui Yang 1 collaboration

Fanggeng Zou 1 collaboration

Francisca Millan 1 collaboration

Richard Person 1 collaboration

Yili Xie 1 collaboration

Shuxi Liu 1 collaboration

Martin Larsen 1 collaboration

Laura Schultz-Rogers 1 collaboration

Eva Morava 1 collaboration

Ian R Berry 1 collaboration

Jennifer Campbell 1 collaboration

Kristin Lindstrom 1 collaboration

Brianna Pruniski 1 collaboration

Ann M Neumeyer 1 collaboration

Jessica A Radley 1 collaboration

Chanika Phornphutkul 1 collaboration

Berkley Schmidt 1 collaboration

William G Wilson 1 collaboration

Katrin Õunap 1 collaboration

Karit Reinson 1 collaboration

Sander Pajusalu 1 collaboration

Arie van Haeringen 1 collaboration

Claudia Ruivenkamp 1 collaboration

Roos Cuperus 1 collaboration

Fernando Santos-Simarro 1 collaboration

María Palomares-Bralo 1 collaboration

Marta Pacio-Míguez 1 collaboration

Alyssa Ritter 1 collaboration

Elizabeth Bhoj 1 collaboration

Elin Tønne 1 collaboration

Kristian Tveten 1 collaboration

Gerarda Cappuccio 1 collaboration

Nicola Brunetti-Pierri 1 collaboration

Leah Rowe 1 collaboration

Jason Bunn 1 collaboration

Margarita Saenz 1 collaboration

Konrad Platzer 1 collaboration

Mareike Mertens 1 collaboration

Oana Caluseriu 1 collaboration

Małgorzata J M Nowaczyk 1 collaboration

Ronald D Cohn 1 collaboration

Peter Kannu 1 collaboration

Ebba Alkhunaizi 1 collaboration

David Chitayat 1 collaboration

Stephen W Scherer 1 collaboration

Lisenka E L M Vissers 1 collaboration

Tjitske Kleefstra 1 collaboration

David A Koolen 1 collaboration

Rosanna Weksberg 1 collaboration

Marie Louise M Binderup 1 collaboration

Maja Smerdel 1 collaboration

Line Borgwadt 1 collaboration

Signe Sparre Beck Nielsen 1 collaboration

Mia Gebauer Madsen 1 collaboration

Hans Ulrik Møller 1 collaboration

Jens Folke Kiilgaard 1 collaboration

Lennart Friis-Hansen 1 collaboration

Vibeke Harbud 1 collaboration

Søren Cortnum 1 collaboration

Hanne Owen 1 collaboration

Steen Gimsing 1 collaboration

Henning Anker Friis Juhl 1 collaboration

Sune Munthe 1 collaboration

Marianne Geilswijk 1 collaboration

Åse Krogh Rasmussen 1 collaboration

Ulla Møldrup 1 collaboration

Ole Graumann 1 collaboration

Frede Donskov 1 collaboration

Henning Grønbæk 1 collaboration

Brian Stausbøl-Grøn 1 collaboration

Ove Schaffalitzky de Muckadell 1 collaboration

Ulrich Knigge 1 collaboration

Gitte Dam 1 collaboration

Karin Aw Wadt 1 collaboration

Lars Bøgeskov 1 collaboration

Per Bagi 1 collaboration

Lars Lund 1 collaboration

Kirstine Stochholm 1 collaboration

Alistair T Pagnamenta 1 collaboration

Carme Camps 1 collaboration

Edoardo Giacopuzzi 1 collaboration

John M Taylor 1 collaboration

Mona Hashim 1 collaboration

Eduardo Calpena 1 collaboration

Pamela J Kaisaki 1 collaboration

Akiko Hashimoto 1 collaboration

Jing Yu 1 collaboration

Edward Sanders 1 collaboration

Ron Schwessinger 1 collaboration

Jim R Hughes 1 collaboration

Gerton Lunter 1 collaboration

Helene Dreau 1 collaboration

Matteo Ferla 1 collaboration

Lukas Lange 1 collaboration

Yesim Kesim 1 collaboration

Vassilis Ragoussis 1 collaboration

Dimitrios V Vavoulis 1 collaboration

Holger Allroggen 1 collaboration

Olaf Ansorge 1 collaboration

Christian Babbs 1 collaboration

Siddharth Banka 1 collaboration

Benito Baños-Piñero 1 collaboration

David Beeson 1 collaboration

Tal Ben-Ami 1 collaboration

David L Bennett 1 collaboration

Celeste Bento 1 collaboration

Edward Blair 1 collaboration

Katherine R Bull 1 collaboration

Holger Cario 1 collaboration

Deirdre Cilliers 1 collaboration

Valerio Conti 1 collaboration

E Graham Davies 1 collaboration

Fatima Dhalla 1 collaboration

Beatriz Diez Dacal 1 collaboration

Yin Dong 1 collaboration

James E Dunford 1 collaboration

Renzo Guerrini 1 collaboration

Adrian L Harris 1 collaboration

Jane Hartley 1 collaboration

Georg Hollander 1 collaboration

Kassim Javaid 1 collaboration

Maureen Kane 1 collaboration

Deirdre Kelly 1 collaboration

Dominic Kelly 1 collaboration

Samantha J L Knight 1 collaboration

Alexandra Y Kreins 1 collaboration

Erika M Kvikstad 1 collaboration

Craig B Langman 1 collaboration

Tracy Lester 1 collaboration

Kate E Lines 1 collaboration

Simon R Lord 1 collaboration

Xin Lu 1 collaboration

Sahar Mansour 1 collaboration

Adnan Manzur 1 collaboration

Reza Maroofian 1 collaboration

Brian Marsden 1 collaboration

Joanne Mason 1 collaboration

Simon J McGowan 1 collaboration

Davide Mei 1 collaboration

Hana Mlcochova 1 collaboration

Yoshiko Murakami 1 collaboration

Andrea H Németh 1 collaboration

Steven Okoli 1 collaboration

Elizabeth Ormondroyd 1 collaboration

Jacqueline Palace 1 collaboration

Smita Y Patel 1 collaboration

Melissa M Pentony 1 collaboration

Chris Pugh 1 collaboration

Aboulfazl Rad 1 collaboration

Archana Ramesh 1 collaboration

Simone G Riva 1 collaboration

Irene Roberts 1 collaboration

Noémi Roy 1 collaboration

Outi Salminen 1 collaboration

Kyleen D Schilling 1 collaboration

Caroline Scott 1 collaboration

Arjune Sen 1 collaboration

Conrad Smith 1 collaboration

Mark Stevenson 1 collaboration

Rajesh V Thakker 1 collaboration

Stephen R F Twigg 1 collaboration

Holm H Uhlig 1 collaboration

Richard van Wijk 1 collaboration

Barbara Vona 1 collaboration

Steven Wall 1 collaboration

Jing Wang 1 collaboration

Hugh Watkins 1 collaboration

Jaroslav Zak 1 collaboration

Anna H Schuh 1 collaboration

Andrew O M Wilkie 1 collaboration

Niko Popitsch 1 collaboration

Jenny C Taylor 1 collaboration

Affiliations

Publications (17)

Loss-of-function variants in SRRM2 cause a neurodevelopmental disorder.

Comprehensive prenatal diagnostics: Exome versus genome sequencing.

Identification of a founder variant AAGAB c.370C>T, p.Arg124Ter in patients with punctate palmoplantar keratoderma in Southern Denmark.

Further clinical and molecular characterization of an XLID syndrome associated with BRWD3 variants, a gene implicated in the leukemia-related JAK-STAT pathway.

Identification of a Novel

Is punctate palmoplantar keratoderma type 1 associated with malignancy? A systematic review of the literature.

Low frequency of parental mosaicism in de novo COL4A5 mutations in X-linked Alport syndrome.

Estimating the effect size of the 15Q11.2 BP1-BP2 deletion and its contribution to neurodevelopmental symptoms: recommendations for practice.

Chromosomal translocation disrupting the SMAD4 gene resulting in the combined phenotype of Juvenile polyposis syndrome and Hereditary Hemorrhagic Telangiectasia.

Survival, surveillance, and genetics in patients with Peutz-Jeghers syndrome: A nationwide study.

Cancer risk and mortality in patients with solitary juvenile polyps-A nationwide cohort study with matched controls.

Late diagnosis of partial 3β-hydroxysteroid dehydrogenase type 2 deficiency - characterization of a new genetic variant.

c.1227_1228dupGG (p.Glu410Glyfs), a frequent variant in Tunisian patients with MUTYH associated polyposis.

Hereditary leiomyomatosis and renal cell carcinoma: a case series and literature review.

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

von Hippel-Lindau disease: Updated guideline for diagnosis and surveillance.

Structural and non-coding variants increase the diagnostic yield of clinical whole genome sequencing for rare diseases.

Réseau de co-auteurs