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Academic Journal
Sissy Bassani; Jacqueline Chrast; Giovanna Ambrosini; Norine Voisin; Frédéric Schütz; Alfredo Brusco; Fabio Sirchia; Lydia Turban; Susanna Schubert; Rami Abou Jamra; Jan-Ulrich Schlump; Desiree DeMille; Pinar Bayrak-Toydemir; Gary Rex Nelson; Kristen Nicole Wong; Laura Duncan; Mackenzie Mosera; Christian Gilissen; Lisenka E. L. M. Vissers; Rolph Pfundt; Rogier Kersseboom; Hilde Yttervik; Geir Åsmund Myge Hansen; Marie Falkenberg Smeland; Kameryn M. Butler; Michael J. Lyons; Claudia M. B. Carvalho; Chaofan Zhang; James R. Lupski; Lorraine Potocki; Leticia Flores-Gallegos; Rodrigo Morales-Toquero; Florence Petit; Binnaz Yalcin; Annabelle Tuttle; Houda Zghal Elloumi; Lane McCormick; Mary Kukolich; Oliver Klaas; Judit Horvath; Marcello Scala; Michele Iacomino; Francesca Operto; Federico Zara; Karin Writzl; Aleš Maver; Maria K. Haanpää; Pia Pohjola; Harri Arikka; Anneke J. A. Kievit; Camilla Calandrini; Christian Iseli; Nicolas Guex; Alexandre Reymond
Genome Medicine, Vol 16, Iss 1, Pp 1-18 (2024)
Academic Journal
Sheng-Jia Lin; Barbara Vona; Tracy Lau; Kevin Huang; Maha S. Zaki; Huda Shujaa Aldeen; Ehsan Ghayoor Karimiani; Clarissa Rocca; Mahmoud M. Noureldeen; Ahmed K. Saad; Cassidy Petree; Tobias Bartolomaeus; Rami Abou Jamra; Giovanni Zifarelli; Aditi Gotkhindikar; Ingrid M. Wentzensen; Mingjuan Liao; Emalyn Elise Cork; Pratishtha Varshney; Narges Hashemi; Mohammad Hasan Mohammadi; Aboulfazl Rad; Juanita Neira; Mehran Beiraghi Toosi; Cordula Knopp; Ingo Kurth; Thomas D. Challman; Rebecca Smith; Asmahan Abdalla; Thomas Haaf; Mohnish Suri; Manali Joshi; Wendy K. Chung; Andres Moreno-De-Luca; Henry Houlden; Reza Maroofian; Gaurav K. Varshney
Genome Medicine, Vol 15, Iss 1, Pp 1-24 (2023)
Academic Journal
Marek B. Körner; Akhil Velluva; Linnaeus Bundalian; Maximilian Radtke; Chen-Ching Lin; Pia Zacher; Tobias Bartolomaeus; Anna S. Kirstein; Achmed Mrestani; Nicole Scholz; Konrad Platzer; Anne-Christin Teichmann; Julia Hentschel; Tobias Langenhan; Johannes R. Lemke; Antje Garten; Rami Abou Jamra; Diana Le Duc
Scientific Reports, Vol 12, Iss 1, Pp 1-10 (2022)
Academic Journal
Philip Boone; Kamli Faour; Kiana Mohajeri; John Lemanski; Bimal Jana; Jack Fu; Jennifer Kerkhof; Haley McConkey; Ryan Collins; Diane Lucente; Celine de Esch; Mariana Moysés-Oliveira; Alexander Nuttle; Aloysius Domingo; Serkan Erdin; Maris Hanley; Amy Watt; Eric Surette; Gloria Lima; Laura Smith; Monica Salani; Rachita Yadav; Ricardo Harripaul; Kathryn O’Keefe; Nicholas Burt; Matthew Larson; Riya Bhavsar; Benjamin Currall; Susan Sell; Roger Ladda; LaDonna Immken; Catherine Buchanan; Bo Yuan; Sally Lynch; Christian Gilissen; Rolph Pfundt; Charlotte Ockeloen; Tjitske Kleefstra; Els Vanhoutte; Margje Sinnema; Sander Stegmann; Servi Stevens; Maria Iascone; Silvia Maitz; Benjamin Cogne; Cedric Le Caignec; Marie Vincent; Mathilde Nizon; Alison Male; Pankaj Agrawal; Michelle Thompson; Pernille Torring; Charlotte Brasch-Andersen; Laurence Faivre; Ange-Line Bruel; Bertrand Isidor; Christophe Philippe; Manuela Morleo; Monica Wojcik; Casie Genetti; Siddharth Srivastava; Sonia Ballal; Sophia Schließke; Rami Abou Jamra; Andree Delahaye; Lydia von Wintzingerode; Viktoria Bothe; Marine Houlier; Timothy Stout; Gaber Bergant; Borut Peterlin; Oana Moldovan; Núria Martínez-Gil; Emanuela Argilli; Elliott Sherr; Tamar Harel; Hallel Rosenberg-Fogler; Jill Rosenfeld; Ingrid Wentzensen; Dominik Westphal; Korbinian Riedhammer; Laura Orec; James Gusella; Bekim Sadikovic; Derek Tai; Michael Talkowski
Genetics in Medicine Open, Vol 1, Iss 1, Pp 100188- (2023)
Academic Journal
Hellen Lesmann; Shahida Moosa; Tori Pantel; Stanislav Rosnev; Alexander Hustinx; Behnam Javanmardi; Alexej Knaus; Tom Kamphans; Wolfgang Meiswinkel; Jing-Mei Li; Merle ten Hagen; Pilar Caro; Clara Velmans; Matthias Höller; Ibrahim Abdelrazek; Gehad Elmakkawy; Khoushoua Alaadin; Kimberly Christine Coetzer; Frédéric Ebstein; Sebastian Küry; Ebtesam Abdalla; Miriam Elbracht; Cordula Knopp; Annabelle Arlt; Claudio Graziano; Borovikov Artem; Annette Uwineza; Felix Marbach; Christian Netzer; Rami Abou Jamra; Markus Nöthen; Gholson Lyon; Peter Krawitz; Tzung-Chien Hsieh
Genetics in Medicine Open, Vol 1, Iss 1, Pp 100225- (2023)
Academic Journal
Antje Kampmeier; Elsa Leitão; Ilaria Parenti; Jasmin Beygo; Christel Depienne; Nuria C Bramswig; Tzung-Chien Hsieh; Alexandra Afenjar; Stefanie Beck-Wödl; Ute Grasshoff; Tobias B Haack; Emilia K Bijlsma; Claudia Ruivenkamp; Eva Lausberg; Miriam Elbracht; Maria K Haanpää; Hannele Koillinen; Uwe Heinrich; Imma Rost; Rami Abou Jamra; Denny Popp; Margarete Koch-Hogrebe; Kevin Rostasy; Vanesa López-González; María José Sanchez-Soler; Catarina Macedo; Ariane Schmetz; Carmen Steinborn; Sabine Weidensee; Hellen Lesmann; Felix Marbach; Pilar Caro; Christian P. Schaaf; Peter Krawitz; Dagmar Wieczorek; Frank J Kaiser; Alma Kuechler
Frontiers in Cell and Developmental Biology, Vol 10 (2023)
Academic Journal
Akhil Velluva; Maximillian Radtke; Susanne Horn; Bernt Popp; Konrad Platzer; Erind Gjermeni; Chen-Ching Lin; Johannes R. Lemke; Antje Garten; Torsten Schöneberg; Matthias Blüher; Rami Abou Jamra; Diana Le Duc
BMC Genomics, Vol 22, Iss 1, Pp 1-9 (2021)
Academic Journal
Ulrike Hüffmeier; Cornelia Kraus; Miriam S. Reuter; Steffen Uebe; Mary-Alice Abbott; Syed A. Ahmed; Kristyn L. Rawson; Eileen Barr; Hong Li; Ange-Line Bruel; Laurence Faivre; Frédéric Tran Mau-Them; Christina Botti; Susan Brooks; Kaitlyn Burns; D. Isum Ward; Marina Dutra-Clarke; Julian A. Martinez-Agosto; Hane Lee; Stanley F. Nelson; UCLA California Center for Rare Disease; Pia Zacher; Rami Abou Jamra; Chiara Klöckner; Julie McGaughran; Jürgen Kohlhase; Sarah Schuhmann; Ellen Moran; John Pappas; Annick Raas-Rothschild; Maria J. Guillen Sacoto; Lindsay B. Henderson; Timothy Blake Palculict; Sureni V. Mullegama; Houda Zghal Elloumi; Adi Reich; Samantha A. Schrier Vergano; Erica Wahl; André Reis; Christiane Zweier
Orphanet Journal of Rare Diseases, Vol 16, Iss 1, Pp 1-9 (2021)
Academic Journal
Davor Lessel; Daniela M. Zeitler; Margot R. F. Reijnders; Andriy Kazantsev; Fatemeh Hassani Nia; Alexander Bartholomäus; Victoria Martens; Astrid Bruckmann; Veronika Graus; Allyn McConkie-Rosell; Marie McDonald; Bernarda Lozic; Ee-Shien Tan; Erica Gerkes; Jessika Johannsen; Jonas Denecke; Aida Telegrafi; Evelien Zonneveld-Huijssoon; Henny H. Lemmink; Breana W. M. Cham; Tanja Kovacevic; Linda Ramsdell; Kimberly Foss; Diana Le Duc; Diana Mitter; Steffen Syrbe; Andreas Merkenschlager; Margje Sinnema; Bianca Panis; Joanna Lazier; Matthew Osmond; Taila Hartley; Jeremie Mortreux; Tiffany Busa; Chantal Missirian; Pankaj Prasun; Sabine Lüttgen; Ilaria Mannucci; Ivana Lessel; Claudia Schob; Stefan Kindler; John Pappas; Rachel Rabin; Marjolein Willemsen; Thatjana Gardeitchik; Katharina Löhner; Patrick Rump; Kerith-Rae Dias; Carey-Anne Evans; Peter Ian Andrews; Tony Roscioli; Han G. Brunner; Chieko Chijiwa; M. E. Suzanne Lewis; Rami Abou Jamra; David A. Dyment; Kym M. Boycott; Alexander P. A. Stegmann; Christian Kubisch; Ene-Choo Tan; Ghayda M. Mirzaa; Kirsty McWalter; Tjitske Kleefstra; Rolph Pfundt; Zoya Ignatova; Gunter Meister; Hans-Jürgen Kreienkamp
Nature Communications, Vol 11, Iss 1, Pp 1-14 (2020)
Academic Journal
Dana Marafi; Tadahiro Mitani; Sedat Isikay; Jozef Hertecant; Mohammed Almannai; Kandamurugu Manickam; Rami Abou Jamra; Ayman W. El‐Hattab; Jaishen Rajah; Jawid M. Fatih; Haowei Du; Ender Karaca; Yavuz Bayram; Jaya Punetha; Jill A. Rosenfeld; Shalini N. Jhangiani; Eric Boerwinkle; Zeynep C. Akdemir; Serkan Erdin; Jill V. Hunter; Richard A. Gibbs; Davut Pehlivan; Jennifer E. Posey; James R. Lupski
Annals of Clinical and Translational Neurology, Vol 7, Iss 5, Pp 610-627 (2020)
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