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Lorenzo Loberti,Loredaria Adamo,Enrica Antolini, Giulia Casamassima,Anne Destrèe,Nicola Brunetti-Pierri,David Genevieve, Philippe Christophe,Christine Coubes,Hilde Van Esch,Theresia Herget,Fanny Kortüm,Jasmin Lisfeld, Anna Charlotte Möllring,Martin Zenker,Jonathan Levy,Laurence Perrin,Anne-Claude Tabet,Anna Maruani,Arthur Sorlin,Daniel Stieber, Lucas Herissant, Karin Dahan,Lorenzo Sinibaldi,Rossella Capolino,Maria Lisa Dentici,Bruno Dallapiccola,Antonio Novelli,Livia Garavelli,Stefano Giuseppe Caraffi,Gianluca Piatelli,Irene Valenzuela,Maria Cristina Digilio,Roseline Caumes,Cordula Knopp,Karolina Chwiałkowska,Aleksandra Jezela-Stanek, Miroslaw Kwasniewski, Urszula Korotko, Ewelina Gorzałczyńska,Roberto Canitano,Salvatore Grosso,Elisa Rahikkala, Larissa Mattern,Miriam Elbracht,Orsetta Zuffardi,Valentina Caputo,Benedetta Toschi,Gea Beunders,Lisette Leeuwen,Mariet W Elting,Liselot van der Laan, Marjoleine F Broekema,Alexander J Groffen,Jiddeke M van de Kamp,Mieke M van Haelst,Marielle Alders, Salvatore Pietro Mauro, Francesca De Razza, Dora Varvara, Johanna Kick,Harald Gaspar,Dominique Braun,Eva Lausberg, Andrea Maier,Valentin Ruault,Rita Genesio,Marco Tartaglia,Rossella Tita,Mirella Bruttini,Ilaria Longo,Margherita Baldassarri,Maria Antonietta Mencarelli,Alessandra Renieri,Anna Maria Pinto
Genetics in medicine official journal of the American College of Medical Geneticspp.101375-101375, (2025)
Caroline Nava, Benjamin Cogne, Amandine Santini,Elsa Leitão,François Lecoquierre, Yuyang Chen,Sarah L Stenton,Thomas Besnard, Solveig Heide, Sarah Baer, Abhilasha Jakhar, Sonja Neuser,Boris Keren, Anne Faudet,Sylvie Forlani, Marie Faoucher, Kevin Uguen,Konrad Platzer,Alexandra Afenjar, Jean-Luc Alessandri, Stephanie Andres, Chloé Angelini, Bernard Aral, Benoit Arveiler,Tania Attie-Bitach, Marion Aubert Mucca, Guillaume Banneau,Tahsin Stefan Barakat,Giulia Barcia,Stéphanie Baulac, Claire Beneteau, Fouzia Benkerdou, Virginie Bernard,Stéphane Bézieau,Dominique Bonneau,Marie-Noelle Bonnet-Dupeyron, Simon Boussion,Odile Boute, Elise Brischoux-Boucher, Samantha J Bryen,Julien Buratti, Tiffany Busa,Almuth Caliebe,Yline Capri, Kévin Cassinari, Roseline Caumes, Camille Cenni, Pascal Chambon,Perrine Charles,John Christodoulou,Cindy Colson, Solène Conrad, Auriane Cospain, Juliette Coursimault,Thomas Courtin, Madeline Couse,Charles Coutton, Isabelle Creveaux, Alissa M D'Gama,Benjamin Dauriat, Jean-Madeleine de Sainte Agathe,Giulia Del Gobbo, Andrée Delahaye-Duriez, Julian Delanne, Anne-Sophie Denommé-Pichon, Anne Dieux-Coeslier, Laura Do Souto Ferreira, Martine Doco-Fenzy, Stephan Drukewitz, Véronique Duboc,Christèle Dubourg,Yannis Duffourd, David Dyment,Salima El Chehadeh, Monique Elmaleh,Laurence Faivre, Samuel Fennelly, Hanna Fischer,Mélanie Fradin, Camille Galludec Vaillant, Benjamin Ganne, Jamal Ghoumid, Himanshu Goel, Zeynep Gokce-Samar,Alice Goldenberg, Romain Gonfreville Robert, Svetlana Gorokhova, Louise Goujon, Victoria Granier, Mathilde Gras,John M Greally, Bianca Greiten, Paul Gueguen,Anne-Marie Guerrot,Saurav Guha,Anne Guimier,Tobias B Haack, Hamza Hadj Abdallah, Yosra Halleb, Radu Harbuz, Madeleine Harris,Julia Hentschel,Bénédicte Héron,Marc-Phillip Hitz,A Micheil Innes, Vincent Jadas, Louis Januel, Nolwenn Jean-Marçais,Vaidehi Jobanputra, Florence Jobic, Ludmila Jornea, Céline Jost,Sophie Julia,Frank J Kaiser, Daniel Kaschta, Sabine Kaya, Petra Ketteler, Bochra Khadija,Fabian Kilpert,Cordula Knopp,Florian Kraft, Ilona Krey, Marilyn Lackmy,Fanny Laffargue,Laetitia Lambert, Ryan Lamont,Vincent Laugel, Steven Laurie, Julie L Lauzon, Louis Lebreton,Marine Lebrun, Marine Legendre,Eric Leguern,Daphné Lehalle,Elodie Lejeune,Gaetan Lesca, Marion Lesieur-Sebellin, Jonathan Levy, Agnès Linglart,Stanislas Lyonnet, Kevin Lüthy, Alan S Ma, Corinne Mach,Jean-Louis Mandel, Lamisse Mansour-Hendili, Julien Marcadier, Victor Marin, Henri Margot, Valentine Marquet, Angèle May,Johannes A Mayr, Catherine Meridda, Vincent Michaud,Caroline Michot, Gwenael Nadeau,Sophie Naudion, Laetitia Nguyen,Mathilde Nizon, Frédérique Nowak,Sylvie Odent, Valerie Olin, Ikeoluwa A Osei-Owusu,Matthew Osmond,Katrin Õunap,Laurent Pasquier,Sandrine Passemard, Melissa Pauly, Olivier Patat, Marine Pensec, Laurence Perrin-Sabourin,Florence Petit, Christophe Philippe, Marc Planes,Annapurna Poduri,Céline Poirsier, Antoine Pouzet, Bradley Prince,Clément Prouteau,Aurora Pujol,Caroline Racine, Mélanie Rama, Francis Ramond, Kara Ranguin, Margaux Raway,André Reis,Mathilde Renaud,Nicole Revencu, Anne-Claire Richard, Lucile Riera-Navarro, Rocio Rius,Diana Rodriguez, Agustí Rodriguez-Palmero, Sophie Rondeau, Annika Roser-Unruh, Christelle Rougeot Jung,Hana Safraou,Véronique Satre,Pascale Saugier-Veber, Clément Sauvestre,Elise Schaefer, Wanqing Shao,Ina Schanze, Jan-Ulrich Schlump, Agatha Schlüter Martin,Caroline Schluth-Bolard,Sarah Schuhmann,Christopher Schröder, Monisha Sebastin,Sabine Sigaudy,Malte Spielmann,Marta Spodenkiewicz, Laura St Clair, Julie Steffann,Radka Stoeva,Harald Surowy, Mark A Tarnopolsky, Calina Todosi,Annick Toutain, Frédéric Tran Mau-Them, Astrid Unterlauft, Julien Van-Gils,Clémence Vanlerberghe,Georgia Vasileiou,Gabriella Vera, André Verdel,Alain Verloes, Yoann Vial,Cédric Vignal,Marie Vincent,Catherine Vincent-Delorme, Aline Vincent-Devulder,Antonio Vitobello,Sacha Weber,Marjolaine Willems, Khaoula Zaafrane-Khachnaoui,Pia Zacher, Lena Zeltner,Alban Ziegler,Wojciech P Galej,Hélène Dollfus, Christel Thauvin, Kym M Boycott, Pierre Marijon, Alban Lermine,Valérie Malan,Marlène Rio,Alma Kuechler,Bertrand Isidor,Séverine Drunat, Thomas Smol,Nicolas Chatron,Amélie Piton, Gael Nicolas,Matias Wagner,Rami Abou Jamra,Delphine Héron,Cyril Mignot, Pierre Blanc,Anne O'Donnell-Luria,Nicola Whiffin,Camille Charbonnier, Clément Charenton,Julien Thevenon,Christel Depienne
Nature geneticsno. 6 (2025): 1374-1388
Kimberley Jade Anderson, Eirny Tholl Thorolfsdottir, Ilana M Nodelman, Sara Tholl Halldorsdottir, Stefania Benonisdottir, Malak Alghamdi, Naif Almontashiri,Brenda J Barry,Matthias Begemann, Jacquelyn F Britton, Sarah Burke, Benjamin Cogne,Ana S A Cohen, Carles de Diego Boguñá, Evan E Eichler,Elizabeth C Engle,Jill A Fahrner,Laurence Faivre, Mélanie Fradin, Nico Fuhrmann, Christine W Gao, Gunjan Garg, Dagmar Grečmalová, Mina Grippa, Jacqueline R Harris,Kendra Hoekzema, Tova Hershkovitz, Sydney Hubbard, Katrien Janssens, Julie A Jurgens, Stanislav Kmoch,Cordula Knopp, Meral Aktas Koptagel, Farah A Ladha,Pablo Lapunzina, Tobias Lindau,Marije Meuwissen, Andreina Minicucci,Emily Neuhaus,Mathilde Nizon, Lenka Nosková,Kristen Park,Chirag Patel,Rolph Pfundt, Pankaj Prasun, Nils Rahner, Nathaniel H Robin, Carey Ronspies, Jasmin Roohi, Jill Rosenfeld,Margarita Saenz,Carol Saunders,Zornitza Stark,Isabelle Thiffault, Sarah Thull,Danita Velasco, Clara Velmans, Jolijn Verseput,Antonio Vitobello,Tianyun Wang, Karin Weiss,Ingrid M Wentzensen, Genay Pilarowski, Thor Eysteinsson, Madelyn Gillentine,Kári Stefánsson, Agnar Helgason, Gregory D Bowman, Hans Tomas Bjornsson
Maimuna S. Paul,Sydney L. Michener,Hongling Pan, Hiuling Chan,Jessica M. Pfliger,Jill A. Rosenfeld,Vanesa C. Lerma,Alyssa Tran,Megan A. Longley,Richard A. Lewis,Monika Weisz-Hubshman,Mir Reza Bekheirnia,Nasim Bekheirnia,Lauren Massingham,Michae Zech,Matia Wagner,Hartmut Engels,Kirsten Cremer,Elisabeth Mangold,Sophia Peters,Jessica Trautmann,Jessica L. Mester,Maria J. Guillen Sacoto,Richard Person,Pamela P. Mcdonnell,Stacey R. Cohen,Laina Lusk,Ana S. A. Cohen,Jean-Baptiste Le Pichon,Tomi Pastinen,Dihong Zhou,Kendra Engleman, Carolin Racirie,Laurence Faivre,Sebastien Moutton,Anne-Sophie Denomme-Pichon,Hyun Yong Koh,Annapurna Poduri,Jeffrey Bolton,Cordula Knopp, Dong Sun Julia Suh,Andrea Maier,Mehran Beiraghi Toosi,Ehsan Ghayoor Karimiani,Reza Maroofian, Gerald Bradley Schaefer, Vijayalakshmi Ramakumaran,Pradeep Vasudevan,Chitra Prasad,Matthew Osmond,Sarah Schuhmann,Georgia Vasileiou,Sophie Russ-Hall,Ingrid E. Scheffer,Gemma L. Carvill,Heather Mefford,Carlos A. Bacino,Brendan H. Lee,Hsiao-Tuan Chao
The American Journal of Human Geneticsno. 1 (2024): 96-118
Florian Kraft,Piere Rodriguez-Aliaga, Weimin Yuan, Lena Franken, Kamil Zajt,Dimah Hasan,Ting-Ting Lee,Elisabetta Flex,Andreas Hentschel,A. Micheil Innes, Bixia Zheng, Dong Sun Julia Suh,Cordula Knopp,Eva Lausberg, Jeremias Krause, Xiaomeng Zhang,Pamela Trapane, Riley Carroll, Martin Mcclatchey,Andrew E. Fry, Lisa Wang,Sebastian Giesselmann,Hieu Hoang,Dustin Baldridge,Gary A. Silverman,Francesca Clementina Radio,Enrico Bertini,Andrea Ciolfi,Katherine A. Blood,Jean-Madeleine de Sainte Agathe,Perrine Charles,Gaber Bergant,Goran Cuturilo,Borut Peterlin,Karin Diderich,Haley Streff,Laurie Robak,Renske Oegema,Ellen van Binsbergen,John Herriges,Carol J. Saunders,Andrea Maier,Stefan Wolking,Yvonne Weber,Hanns Lochmuller, Stefanie Meyer, Alberto Aleman,Kiran Polavarapu,Gael Nicolas,Alice Goldenberg, Lucie Guyant,Kathleen Pope, Katherine N. Hehmeyer,Kristin G. Monaghan,Annegret Quade,Thomas Smol,Roseline Caumes,Sarah Duerinckx,Chantal Depondt,Wim Van Paesschen,Claudine Rieubland, Claudia Poloni,Michel Guipponi, Severine Arcioni,Marije Meuwissen,Anna C. Jansen,Jessica Rosenblum,Tobias B. Haack,Miriam Bertrand, Lea Gerstner,Janine Magg,Olaf Riess,Joerg B. Schulz,Norbert Wagner,Martin Wiesmann,Joachim Weis,Thomas Eggermann,Matthias Begemann,Andreas Roos,Martin Haeusler,Tim Schedl,Marco Tartaglia,Juliane Bremer,Stephen C. Pak,Judith Frydman,Miriam Elbracht,Ingo Kurth
Hellen Lesmann,Alexander Hustinx,Shahida Moosa,Hannah Klinkhammer,Elaine Marchi,Pilar Caro,Ibrahim M Abdelrazek,Jean Tori Pantel, Merle Ten Hagen,Meow-Keong Thong, Rifhan Azwani Binti Mazlan,Sok Kun Tae,Tom Kamphans,Wolfgang Meiswinkel,Jing-Mei Li,Behnam Javanmardi,Alexej Knaus,Annette Uwineza,Cordula Knopp,Tinatin Tkemaladze,Miriam Elbracht, Larissa Mattern,Rami Abou Jamra,Clara Velmans,Vincent Strehlow,Maureen Jacob,Angela Peron,Cristina Dias,Beatriz Carvalho Nunes, Thainá Vilella, Isabel Furquim Pinheiro,Chong Ae Kim,Maria Isabel Melaragno, Hannah Weiland, Sophia Kaptain,Karolina Chwiałkowska, Miroslaw Kwasniewski, Ramy Saad,Sarah Wiethoff,Himanshu Goel, Clara Tang, Anna Hau,Tahsin Stefan Barakat, Przemysław Panek,Amira Nabil, Julia Suh,Frederik Braun,Israel Gomy,Luisa Averdunk,Ekanem Ekure,Gaber Bergant,Borut Peterlin,Claudio Graziano,Nagwa Gaboon, Moisés Fiesco-Roa,Alessandro Mauro Spinelli, Nina-Maria Wilpert,Prasit Phowthongkum,Nergis Güzel,Tobias B Haack,Rana Bitar,Andreas Tzschach,Agusti Rodriguez-Palmero,Theresa Brunet,Sabine Rudnik-Schöneborn, Silvina Noemi Contreras-Capetillo, Ava Oberlack,Carole Samango-Sprouse,Teresa Sadeghin, Margaret Olaya,Konrad Platzer,Artem Borovikov,Franziska Schnabel,Lara Heuft, Vera Herrmann,Renske Oegema,Nour Elkhateeb,Sheetal Kumar,Katalin Komlosi, Khoushoua Mohamed,Silvia Kalantari,Fabio Sirchia, Antonio F Martinez-Monseny, Matthias Höller, Louiza Toutouna, Amal Mohamed,Amaia Lasa-Aranzasti,John A Sayer,Nadja Ehmke,Magdalena Danyel,Henrike Sczakiel,Sarina Schwartzmann,Felix Boschann,Max Zhao,Ronja Adam, Lara Einicke,Denise Horn,Kee Seang Chew,Choy Chen Kam, Miray Karakoyun,Ben Pode-Shakked,Aviva Eliyahu,Rachel Rock, Teresa Carrion,Odelia Chorin,Yuri A Zarate, Marcelo Martinez Conti,Mert Karakaya,Moon Ley Tung,Bharatendu Chandra,Arjan Bouman,Aime Lumaka,Naveed Wasif,Marwan Shinawi,Patrick R Blackburn,Tianyun Wang, Tim Niehues,Axel Schmidt, Regina Rita Roth,Dagmar Wieczorek,Ping Hu,Rebekah L Waikel,Suzanna E Ledgister Hanchard,Gehad Elmakkawy,Sylvia Safwat,Frédéric Ebstein,Elke Krüger,Sébastien Küry,Stéphane Bézieau,Annabelle Arlt,Eric Olinger,Felix Marbach, Dong Li,Lucie Dupuis,Roberto Mendoza-Londono,Sofia Douzgou Houge,Denisa Weis,Brian Hon-Yin Chung,Christopher C Y Mak,Hülya Kayserili,Nursel Elcioglu,Ayca Aykut, Peli Özlem Şimşek-Kiper,Nina Bögershausen,Bernd Wollnik,Heidi Beate Bentzen,Ingo Kurth,Christian Netzer,Aleksandra Jezela-Stanek,Koen Devriendt,Karen W Gripp,Martin Mücke,Alain Verloes,Christian P Schaaf,Christoffer Nellåker,Benjamin D Solomon,Markus M Nöthen,Ebtesam Abdalla,Gholson J Lyon,Peter M Krawitz,Tzung-Chien Hsieh
Hellen Lesmann,Shahida Moosa,Jean Tori Pantel,Alexander Hustinx,Tom Kamphans,Wolfgang Meiswinkel,Jing-Mei Li,Hannah Klinkhammer,Behnam Javanmardi,Alexej Knaus,Stanislav Rosnev, Merle ten Hagen,Pilar Caro, Ibrahim Abdelrazek,Clara Velmans,Frederic Ebstein,Sebastien Kury,Ebtesam Abdalla, Matthias Hoeller,Kimberly Christine Coetzer,Miriam Elbracht,Felix Marbach,Cordula Knopp,Claudio Graziano,Annabelle Arlt,Artem Borovikov,Christian Netzer,Annette Uwineza,Rami Abou Jamra,Markus Noethen,Gholson Lyon,Peter Krawitz,Tzung-Chien Hsieh
Mateja Pfeifer,Helga Rehder,Maria Gerykova Bujalkova,Christine Bartsch,Barbara Fritz,Cordula Knopp, Björn Beckers, Frank Dohle,Matthias Meyer-Wittkopf,Roland Axt-Fliedner,Alexander V. Beribisky, Manuel Hofer,Franco Laccone,Katharina Schoner
Axel Schmidt,Magdalena Danyel,Kathrin Grundmann,Theresa Brunet,Hannah Klinkhammer,Tzung-Chien Hsieh,Hartmut Engels,Sophia Peters,Alexej Knaus,Shahida Moosa,Luisa Averdunk,Felix Boschann,Henrike Lisa Sczakiel,Sarina Schwartzmann,Martin Atta Mensah,Jean Tori Pantel,Manuel Holtgrewe, Annemarie Bösch,Claudia Weiß,Natalie Weinhold, Aude-Annick Suter,Corinna Stoltenburg,Julia Neugebauer, Tillmann Kallinich,Angela M Kaindl,Susanne Holzhauer,Christoph Bührer,Philip Bufler,Uwe Kornak,Claus-Eric Ott,Markus Schülke,Hoa Huu Phuc Nguyen,Sabine Hoffjan,Corinna Grasemann,Tobias Rothoeft,Folke Brinkmann,Nora Matar,Sugirthan Sivalingam,Claudia Perne,Elisabeth Mangold,Martina Kreiss,Kirsten Cremer,Regina C Betz,Martin Mücke,Lorenz Grigull,Thomas Klockgether,Isabel Spier,André Heimbach,Tim Bender,Fabian Brand,Christiane Stieber, Alexandra Marzena Morawiec,Pantelis Karakostas,Valentin S Schäfer,Sarah Bernsen,Patrick Weydt,Sergio Castro-Gomez,Ahmad Aziz,Marcus Grobe-Einsler,Okka Kimmich,Xenia Kobeleva,Demet Önder,Hellen Lesmann,Sheetal Kumar,Pawel Tacik, Meghna Ahuja Basin,Pietro Incardona,Min Ae Lee-Kirsch,Reinhard Berner,Catharina Schuetz,Julia Körholz,Tanita Kretschmer,Nataliya Di Donato,Evelin Schröck,André Heinen,Ulrike Reuner, Amalia-Mihaela Hanßke,Frank J Kaiser,Eva Manka,Martin Munteanu,Alma Kuechler,Kiewert Cordula,Raphael Hirtz,Elena Schlapakow,Christian Schlein,Jasmin Lisfeld,Christian Kubisch,Theresia Herget,Maja Hempel,Christina Weiler-Normann,Kurt Ullrich,Christoph Schramm,Cornelia Rudolph,Franziska Rillig, Maximilian Groffmann,Ania Muntau, Alexandra Tibelius,Eva M C Schwaibold,Christian P Schaaf,Michal Zawada,Lilian Kaufmann,Katrin Hinderhofer, Pamela M Okun,Urania Kotzaeridou,Georg F Hoffmann,Daniela Choukair,Markus Bettendorf,Malte Spielmann,Annekatrin Ripke,Martje Pauly,Alexander Münchau,Katja Lohmann,Irina Hüning,Britta Hanker,Tobias Bäumer,Rebecca Herzog,Yorck Hellenbroich,Dominik S Westphal,Tim Strom,Reka Kovacs,Korbinian M Riedhammer,Katharina Mayerhanser,Elisabeth Graf,Melanie Brugger,Julia Hoefele,Konrad Oexle,Nazanin Mirza-Schreiber,Riccardo Berutti,Ulrich Schatz,Martin Krenn,Christine Makowski,Heike Weigand,Sebastian Schröder,Meino Rohlfs,Katharina Vill,Fabian Hauck,Ingo Borggraefe,Wolfgang Müller-Felber,Ingo Kurth,Miriam Elbracht,Cordula Knopp,Matthias Begemann,Florian Kraft,Johannes R Lemke,Julia Hentschel,Konrad Platzer,Vincent Strehlow,Rami Abou Jamra,Martin Kehrer,German Demidov,Stefanie Beck-Wödl,Holm Graessner,Marc Sturm,Lena Zeltner, Ludger J Schöls,Janine Magg,Andrea Bevot,Christiane Kehrer,Nadja Kaiser,Ernest Turro,Denise Horn,Annette Grüters-Kieslich,Christoph Klein,Stefan Mundlos,Markus Nöthen,Olaf Riess,Thomas Meitinger,Heiko Krude,Peter M Krawitz,Tobias Haack,Nadja Ehmke,Matias Wagner
Nature Geneticsno. 8 (2024): 1644-1653
Maimuna S. Paul,Sydney L. Michener,Hongling Pan, Hiuling Chan,Jessica M. Pfliger,Jill A. Rosenfeld,Vanesa C. Lerma,Alyssa Tran,Megan A. Longley,Richard A. Lewis,Monika Weisz-Hubshman,Mir Reza Bekheirnia,Nasim Bekheirnia,Lauren Massingham,Michael Zech,Matias Wagner,Hartmut Engels,Kirsten Cremer,Elisabeth Mangold,Sophia Peters,Jessica Trautmann,Claudia Perne,Jessica L. Mester,Maria J. Guillen Sacoto,Richard Person,Pamela P. McDonnell,Stacey R. Cohen,Laina Lusk,Ana S. A. Cohen,Jean -Baptiste Le Pichon,Tomi Pastinen,Dihong Zhou,Kendra Engleman,Caroline Racine,Laurence Faivre,Sebastien Moutton,Anne -Sophie Denomme-Pichon,Hyun Yong Koh,Annapurna Poduri,Jeffrey Bolton,Cordula Knopp, Dong Sun Julia Suh,Andrea Maier,Mehran Beiraghi Toosi,Ehsan Ghayoor Karimiani,Reza Maroofian, Gerald Bradley Schaefer, Vijayalakshmi Ramakumaran,Pradeep Vasudevan,Benito Banos-Pinero,Alistair T. Pagnamenta,Chitra Prasad,Matthew Osmond,Sarah Schuhmann,Georgia Vasileiou,Sophie Russ-Hall,Ingrid E. Scheffer,Gemma L. Carvill,Heather Mefford,Carlos A. Bacino,Brendan H. Lee,Hsiao-Tuan Chao
AMERICAN JOURNAL OF HUMAN GENETICSno. 6 (2024): 1239-1239
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