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Tamar Harel, Camille Spicher,Elisabeth Scheer,Jillian G. Buchan, Jennifer Cech,Chiara Folland,Tanja Frey,Alexander M. Holtz,A. Micheil Innes,Boris Keren,William L. Macken,Carlo Marcelis,Catherine E. Otten, Sarah A. Paolucci,Florence Petit,Rolph Pfundt,Robert D. S. Pitceathly,Anita Rauch,Gianina Ravenscroft, Rani Sanchev,Katharina Steindl,Femke Tammer,Amanda Tyndall,Didier Devys,Stephane D. Vincent,Orly Elpeleg,Laszlo Tora
BRAINno. 8 (2024): 2732-2744
Alexander J. M. Dingemans,Sandra Jansen,Jeroen van Reeuwijk,Nicole de Leeuw,Rolph Pfundt,Janneke Schuurs-Hoeijmakers,Bregje W. van Bon,Carlo Marcelis,Charlotte W. Ockeloen,Marjolein Willemsen,Pleuntje J. van der Sluijs,Gijs W. E. Santen,R. Frank Kooy,Anneke T. Vulto-van Silfhout,Tjitske Kleefstra,David A. Koolen,Lisenka E. L. M. Vissers,Bert B. A. de Vries
NATURE MEDICINE (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 Ounap,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
CLINICAL GENETICSno. 6 (2024): 655-660
Dong Li,Qin Wang,Allan Bayat,Mark R. Battig,Yijing Zhou,Danielle G. M. Bosch,Gijs van Haaften,Leslie Granger,Andrea K. Petersen,Luis A. Perez-Jurado,Gemma Aznar-Lain, Anushree Aneja,Miroslava Hancarova,Sarka Bendova,Martin Schwarz,Radka Kremlikova Pourova,Zdenek Sedlacek,Beth A. Keena,Michael E. March,Cuiping Hou,Nora O'Connor,Elizabeth J. Bhoj,Margaret H. Harr,Gabrielle Lemire,Kym M. Boycott,Meghan Towne,Megan Li,Mark Tarnopolsky,Lauren Brady,Michael J. Parker,Hanna Faghfoury, Lea Kristin Parsley,Emanuele Agolini,Maria Lisa Dentici,Antonio Novelli,Meredith Wright,Rachel Palmquist,Khanh Lai,Marcello Scala,Pasquale Striano,Michele Iacomino,Federico Zara, Annina Cooper,Timothy J. Maarup,Melissa Byler,Robert Roger Lebel,Tugce B. Balci,Raymond Louie,Michael Lyons,Jessica Douglas,Catherine Nowak,Alexandra Afenjar,Juliane Hoyer,Boris Keren,Saskia M. Maas,Mahdi M. Motazacker,Julian A. Martinez-Agosto,Ahna M. Rabani,Elizabeth M. McCormick,Marni J. Falk,Sarah M. Ruggiero,Ingo Helbig,Rikke S. Moller,Lino Tessarollo,Francesco Tomassoni Ardori,Mary Ellen Palko,Tzung-Chien Hsieh,Peter M. Krawitz,Mythily Ganapathi,Bruce D. Gelb,Vaidehi Jobanputra,Ashley Wilson,John Greally,Sebastien Jacquemont,Khadije Jizi,Ange-Line Bruel,Chloe Quelin,Vinod K. Misra, Erika Chick,Corrado Romano,Donatella Greco, Alessia Arena,Manuela Morleo,Vincenzo Nigro,Rie Seyama,Yuri Uchiyama,Naomichi Matsumoto,Ryoji Taira,Katsuya Tashiro,Yasunari Sakai,Gokhan Yigit,Bernd Wollnik, Michael Wagner, Barbara Kutsche,Anna C. E. Hurst,Michelle L. Thompson,Ryan Schmidt,Linda Randolph,Rebecca C. Spillmann,Vandana Shashi,Edward J. Higginbotham,Dawn Cordeiro,Amanda Carnevale,Gregory Costain,Tayyaba Khan,Benoit Funalot,Frederic Tran Mau-Them, Luis Fernandez Garcia Moya,Sixto Garcia-Minaur,Matthew Osmond,Lauren Chad,Nada Quercia, Diana Carrasco,Chumei Li,Amarilis Sanchez-Valle,Meghan Kelley,Mathilde Nizon,Brynjar O. Jensson,Patrick Sulem,Kari Stefansson,Svetlana Gorokhova,Tiffany Busa,Marlene Rio, Hamza Hadj Habdallah,Marion Lesieur-Sebellin,Jeanne Amiel,Veronique Pingault,Sandra Mercier,Marie Vincent,Christophe Philippe, Clemence Fatus-Fauconnier,Kathryn Friend, Rebecca K. Halligan, Sunita Biswas, Jane Rosser,Cheryl Shoubridge,Mark Corbett,Christopher Barnett,Jozef Gecz,Kathleen Leppig,Anne Slavotinek,Carlo Marcelis,Rolph Pfundt,Bert B. A. de Vries,Marjon A. van Slegtenhorst,Alice S. Brooks,Benjamin Cogne, Thomas Rambaud,Zeynep Tumer,Elaine H. Zackai,Naiara Akizu,Yuanquan Song,Hakon Hakonarson
JOURNAL OF CLINICAL INVESTIGATIONno. 1 (2024)
Maria W. A. Teunissen,Elly Lewerissa,Eline J. H. van Hugte, Shan Wang,Charlotte W. Ockeloen,David A. Koolen,Rolph Pfundt,Carlo L. M. Marcelis,Eva Brilstra,Jennifer L. Howe,Stephen W. Scherer,Xavier Le Guillou,Frederic Bilan,Michelle Primiano,Jasmin Roohi,Amelie Piton,Anne de Saint Martin,Sarah Baer,Simone Seiffert,Konrad Platzer,Rami Abou Jamra,Steffen Syrbe,Jan H. Doering,Shenela Lakhani,Srishti Nangia,Christian Gilissen,R. Jeroen Vermeulen,Rob P. W. Rouhl,Han G. Brunner,Marjolein H. Willemsen,Nael Nadif Kasri
My Vuong Hermansen,Lena Lande Wekre,Ingeborg Beate Lidal,Ashlee Joan Macalino, Randall Porter,Lindsay E Smith, Hongyue Wang, Alex V. Levin,Jessica Duis,Austin Skinner,Robert P. Carson,Arnaud Gouelle,M. Annoussamy, Jill L. Silverman,Susan Apkon, Laurent Servais,James Carollo,Gabriella Gazdagh, David Hunt,A. González, Pablo Gustavo Rodríguez,Ayeshah Chaudhry,Marcos Madruga,Fleur Vansenne,Deborah Shears,Aurore Curie,Eva‐Lena Stattin, Britt‐Marie Anderlid,Slavica Trajkova, Elena Angelovska,Catherine McWilliam, Philip Wyatt, Michael P. O’Driscoll,Giles Atton, Anke Bergman,Pia Zacher, Leena Mewasingh,Antonio González-Meneses López, Olga Alonso-Luengo,Htoo A Wai, Ottilie Rohde, Pauline Boiroux,Anne Debant, Susanne Schmidt, Diana Baralle, Thomas Frazier, Robyn M. Busch,Patricia Klaas,Katherine Lachlan,Shafali Jeste,A lexander Kolevzon, Eva Loth,Jacqueline Harris,Leslie Speer, Thomas Pepper,Kristin Anthony,J. Michael Graglia,Christal G. Delagrammatikas,Sandra Bedrosian‐Sermone,Jenine Beekhuyzen,Constance Smith‐Hicks, Mustafa Şahin, Charis Eng,Antonia Y. Hardan, Mirko Uljarević,Jacquelyn Manfredo,George Capone, Lisa R. Yanek, Robert McCarter, Babette S. Zemel, Andrea Kelly, Sheela N. Magge, Sarah Wang,Lina Patel,Elise M. Sannar,Mellad Khoshnood,Natalie K. Boyd, Lorena Mendez,Noemi Alice Spinazzi,Eileen A. Quinn, Michael S. Rafii, Jonathan D. Santoro,Adenrele M. Gleason, Andrea Silveira de Souza,Emory Ryan,Angela Grochowsky, Camille Carter, Özlem Göker-Alpan, Grisel Lopez, Nahid Tayebi, Ellen Sidransky,Lisanne de Koning,Jessica Warnink‐Kavelaars,Marion van Rossum, D. K. Bosman,Leonie A. Menke, Fransiska Malfait, Rosa de Boer, Jaap Oosterlaan,Raoul Engelbert,Lies Rombaut, Petya Angelova,Vasil Velchev,N. D. Stoyanov,Slavena Atemin,Tihomir Todorov,Ivan Tourtourikov, Vanio Mitev, Албена Тодорова,Gökcen Karamık, Beyhan Tüysüz, Esra Işık, Ayşegül Yılmaz, Yasemin Alanay, Cifci Sunamak, Avci Durmusalioglu,Ferda Özkınay, Ozan Gokhan, Nuray Cetin, Elif Öztürk, Banu Mihci,Michell Lozano Chinga, Alison A. Bertuch,Zeinab Afify,Kaylee Dollerschell, Joanne W. Hsu, Tami John, Eswara A. Rao, Robert Rowe, Vijay G. Sankaran, Akiko Shimamura, David Williams,Taizo A. Nakano,Martina Siracusano,Assia Riccioni,Ilaria Frattale,Lucrezia Arturi,Caterina Dante,Cinzia Galasso, Leonardo Gialloreti,Giuseppina Conteduca,Barbara Testa,Michela Malacarne, Domenico Coviello, Luigi Mazzone, Jonathan Lukas Lühmann, Gunnar Schmidt,Bernd Auber, Katharina Anke, Oliver Bergmann, A. Brandau, St Louis, Katrin Hentze, Brigitte Eisfeld, Ruediger Schlegelberger, Dieter Klaes,Päivi Pietilä‐Effati,Jukka T. Saarinen, Eliisa Löyttyniemi,Maria Saarenhovi,Reijo Autio, Ilkka Kantola,Jirat Chenbhanich, Patompong Ungprasert, Paul T. Kröner,Mitsunori Fujino,Masami Ojima, Seiya Mizuno, Sumio Takahashi,Elise Pelgrims, Sally Ann Lynch,Laurens Hannes, Mariétte J.V. Hoffer,Cindy Melotte,Arie van Haeringen, Ann Swillen, Jeroen Breckpot,Monica H. Wojcik,Siddharth Srivastava, Pankaj B. Agrawal,Tuğçe B. Balcı, Bert Callewaert, Pier Luigi Calvo,Diana Carli,Michelle Caudle,Samantha Colaiacovo,Laura M. Cross, Kalliope Demetriou, Katy Drazba,Marina Dutra‐Clarke, Matthew Edwards,Casie A. Genetti, Dorothy K. Grange,Scott E. Hickey, Bertrand Isidor, Sébastien Küry,Herbert M. Lachman,Alinoë Lavillaureix,Michael D. Lyons,Carlo Marcelis,Elysa J. Marco, Julian A. Martinez‐Agosto, C. Nowak,Antonio Pizzol,Marc Planes,Eloise J. Prijoles,Evelise Riberi,Eric T. Rush,Bianca Russell,Rani Sachdev,Betsy Schmalz,David Stevenson, Kate Wilson,Sandra Jansen,Bert de Vries, Cynthia J. Curry,Nicholas A. Borja,Paulo Borjas‐Mendoza,Stephanie Bivona,LéShon Peart,Joanna Gonzalez, Brittney Johnson,Shengru Guo,Roman Yusupov,Undiagnosed Diseases Network, Güney Bademci, Mustafa Tekin,Joanna Ashworth, Sousa Abreu,Isabel Couto Guerra, Susana Almeida,Catarina Cunha, Helena Silva, Ermelinda Santos, Claire Kittock,Mohamad Saifeddine, Lisa Straight,D. Isum Ward,Anna Meroni,Silvia Kalantari,Alessia Arossa, Arsenio Spinillo,Chiara Melito, Licia Annachiara, Stefania Scatigno, E. Cesari, Giorgio Melchiori, Tessa Furione, Fabio Homfray,Katarzyna Polonis,Jaime L. Lopes,Huong Cabral,Holly E. Babcock,Laura Kline, Kaylee M. Ruiz,Stuart Schwartz,Linda Hasadsri,Ross Rowsey,Nicole L. Hoppman,Hiroshi Kurosaka,Sayuri Yamamoto,Kyoko Hirasawa,Tomoe Yanagishita,Kaoru Fujioka,Hideaki Yagasaki,Miho Nagata,Yasuki Ishihara,Ayumi Yonei, Yoshihiro Asano,Namiki Nagata,Takayuki Tsujimoto,Toshihiro Inubushi, Toshiyuki Yamamoto, Norio Sakai, Takashi Yamashiro
American journal of medical genetics Part Ano. 7 (2023): 1681-1686
Edgar T. Hoorntje,Charlotte Burns,Luisa Marsili,Ben Corden,Victoria N. Parikh, Gerard J. te Meerman,Belinda Gray,Ahmet Adiyaman,Richard D. Bagnall,Daniela Q. C. M. Barge-Schaapveld,Maarten P. van den Berg,Marianne Bootsma,Laurens P. Bosman,Gemma Correnti,Johan Duflou,Ruben N. Eppinga,Diane Fatkin,Michael Fietz,Eric Haan,Jan D. H. Jongbloed,Arnaud D. Hauer,Lien Lam,Freyja H. M. van Lint,Amrit Lota,Carlo Marcelis,Hugh J. McCarthy,Anneke M. van Mil,Rogier A. Oldenburg,Nicholas Pachter,R. Nils Planken,Chloe Reuter,Christopher Semsarian,Jasper J. van der Smagt,Tina Thompson,Jitendra Vohra,Paul G. A. Volders,Jaap I. van Waning,Nicola Whiffin,Arthur van den Wijngaard,Ahmad S. Amin,Arthur A. M. Wilde,Gijs van Woerden,Laura Yeates,Dominica Zentner, Euan A. Ashley,Matthew T. Wheeler,James S. Ware,J. Peter van Tintelen,Jodie Ingles
Michiel Dalinghaus,Marijke van der Meulen,Johanna C. Herkert,Susanna den Boer, Gang Du,Marchie Sarvaas, Nico A. Blom, Arend, Derk-Jan Ten Harkel,Hans Breur,Lukas Rammeloo,Ronald B. Tanke,Carlo Marcelis,Ingrid M.B.H. van de Laar,Judith M.A. Verhagen,Ronald Lekanne dit Deprez,Daniela Q.C.M. Barge‐Schaapveld,Annette F. Baas,Arjan Sammani,Peter van Tintelen,Ephraim B. Winzer,Antje Augstein,Antje Schauer, Stephan Mueller, Tina Fischer-Schaepmann,Kosaku Goto,Jennifer Hommel,Emeline Van Craenenbroeck, Ulrik Wisløff, Burkert Pieske, Martin Halle, Axel Linke, Volker Adams,Alberta Warner,Lingyun Lu,Zunera Ghaznavi, Cynthia A. Jackevicius, A. Lin,Pepijn A. van Diemen, Manish Motwani,Priscilla McElhinney, Yuka Otaki, Donghee Han,Alan C. Kwan,Evangelos Tzolos,Eyal Klein,Keiichiro Kuronuma,Kajetan Grodecki, Benjamin L. Shou,Richard Ríos,Nipun Manral,Sebastien Cadet, Ibrahim Danad,Roel S. Driessen, Daniel S. Berman, Bjarne Linde Nørgaard, Piotr J. Slomka, Paul Knaapen, Damini Dey
Circulationno. 2 (2023): 178-182
Faas BHW,D Westra, SA de Munnik, M van Rij,C Marcelis, S Joosten,I Krapels,V Vernimmen,M Heijligers,MH Willemsen, N de Leeuw,T Rinne,R Pfundt, SP Smeekens, APA Stegmann,M Macville,E Sikkel,A Coumans,L Wijnberger,I Derks,J van Lent‐Albrechts,T Hofste,R Timmermans,J van den End, SJC Stevens,I Feenstra
Prenatal Diagnosis (2023)
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