학술논문
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'학술논문'
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1~20
Academic Journal
Van Niel, Halianna; Lauretta, Mariana; Baker, Emma; O’Donnell, Lorraine; Boulton, Charlotte; Brenchley, Celia; Coman, David; Michellis, Evyenia; Goel, Himanshu; Thompson, Geoff; Webster, Richard; Paxton, Georgia; Stark, Zornitza; Scheffer, Ingrid E.; Hildebrand, Michael S.; Amor, David J.; Morgan, Angela T.
European Journal of Human Genetics. :1-10
Academic Journal
Christos Arvanitidis; Olga Ameixa; Alberto Basset; Eva Chatzinikolaou; Claudia Coman; Berta Companys; Francesco De Leo; Klaas Deneudt; Federico Drago; John Eriksson; Tiziana Ferrari; Teodor Georgiev; Giovanni Giuliano; Stefan Gruber; Jens Habermann; Katharina Heil; Tim Hubbard; Cristina Huertas Olivares; Georgios Kotoulas; Dimitris Koureas; Natalia Manola; Vanessa Marrocco; Nicolas Pade; Ana Portugal Melo; Antonello Provenzale; Fotis Psomopoulos; Niels Raes; Susie Robinson; Patrick Ruch; Dick Schaap; Adrian Stanica; Tassos Stavropoulos; Heliana Teixeira; Peter van Tienderen; Costas Tsigenopoulos; Robert Waterhouse; Giuseppe Aprea; Michel Boër; Ana Casino; Laurent Delauney; Jonathan Ewbank; Michael Mirtl; Jana Pavlic-Zupanc; Lyubomir Penev; Jaume Piera; Paraskevi Pitta; Ingrid Puillat; David Richter; Diana Stepanyan; Anton Ussi; Jan Węsławski; Gabriela Zuquim
Research Ideas and Outcomes, Vol 11, Iss , Pp 1-4 (2025)
Academic Journal
Sophie Manoy; Claire Murray; Matthew Lynch; Tahlee Minto; Kelvin Choo; Carolyn Bursle; Michelle Lipke; Jim McGill; Anita Inwood; David Coman
JIMD Reports, Vol 67, Iss 1, Pp n/a-n/a (2026)
Academic Journal
Agnese Giaz; Oliver Wieland; Angela Bracco; Franco Camera; Soichiro Aogaki; Dimiter L. Balabanski; Maria Brezeanu; Ruxandra Borcea; Marian Boromiza; Ion Burducea; Stefana Calinescu; Adina Coman; Paul Constantin; Cristian Costache; Michał Ciemała; Gheorghe Ciocan; Cristina Clisu; Fabio C.L. Crespi; Mihai Cuciuc; Anukul Dhal; Irina Dinescu; Nikolay Djourelov; Nicoleta M. Florea; Ioana Gheorghe; Decebal Iancu; Violeta Iancu; David M. Kahl; Maria Kmiecik; Aslı Kuşoğlu; Razvan Lica; Adam Maj; Nicolae M. Mărginean; Raluca Mărginean; Constantin Mihai; Radu E. Mihai; Bénédicte Million; Catalin Neacsu; Dragos Nichita; Cristina R. Niţă; Haridas Pai; Alfio D. Pappalardo; Teodora Petruse; Adrian Rotaru; Andreea B. Serban; Pär-Anders Söderström; Cristophe O. Sotty; Anamaria Spătaru; Lucian Stan; Alexandru N. State; Alexandru Stoica; Dmitry A. Testov; Sebastian Toma; Tatiana Tozar; Andrei Turturică; Gabriel V. Turturică; Sorin Ujeniuc; Vlad Vasilca; Yi Xu; Fan Zhu
Physics Letters B, Vol 868, Iss , Pp 139653- (2025)
Academic Journal
Daniel Mihai Teleanu; Octavian Narcis Ionescu; Carmen Aura Moldovan; Marian Ion; Adrian Tulbure; Eduard Franti; David Catalin Dragomir; Silviu Dinulescu; Bianca Mihaela Boga; Ana Maria Oproiu; Ancuta Diana-Larisa; Vaduva Mariana; Coman Cristin; Carmen Mihailescu; Mihaela Savin; Gabriela Ionescu; Monica Dascalu; Mark Edward Pogarasteanu; Marius Moga; Mirela Petruta Suchea
Bioengineering, Vol 12, Iss 12, p 1366 (2025)
Academic Journal
Benignus Logan; Elaine M. Pascoe; Andrea K. Viecelli; David W. Johnson; Tracy Comans; Carmel M. Hawley; Laura E. Hickey; Monika Janda; Allison Jaure; Emarene Kalaw; Charani Kiriwandeniya; Misa Matsuyama; Gabor Mihala; Kim-Huong Nguyen; Jason D. Pole; Kevan R. Polkinghorne; Dimity Pond; Rajesh Raj; Donna M. Reidlinger; Nicole Scholes-Robertson; Andrea Valks; Germaine Wong; Ruth E. Hubbard; Deanna Nisha Antony; Ricky Arenson; Owen Bale; Sabine Braat; Benilda Maria Lobo Brites; Sally Broers; Graham Buckle; Sreenath Bukkapatnam; Joanne Cerni; Doris Chan; Michael G. Collins; Amanda Elms; John Fanning; Karen Fischer; Adam Flavell; Leon Flicker; Chloe Furst; Emily H. Gordon; Sridevi Govindarajulu; Natalie Grainer; Stella Jean Green; Suetonia C. Green; Chandana Guha; Samantha Hand; Leny Dwi Nur Hidayati; Rachael Irvine; Ibrahim Ismail; Shilpanjali Jesudason; George Kan; Ya-Yu Kang; Leonie Kelly; Debbie Kennedy; Khadija Khatry; Vinod Khelgi; Shannon Kokoszka; Anoushka Krishnan; Heather Lane; Diana Leary; Andrea Lees; Claire Long; Angela Makris; Khalilah Katherine Marquez; Amanda Maxwell; Amanda McGrath; David McIntyre; Penelope Murie; Karina Murphy; Danielle Ní Chróinín; Nancye M. Peel; Stephanie Polley Xiaodan Qiu; Madeleine Rapisardi; Matthew A. Roberts; Simon D. Roger; Shailly Saxena; Shaundeep Sen; Edward Strivens; Julie Varghese; Louise M. Waite; Robert Walker; Daniel Wong; Paul Andrew Yates; Belinda Yip; Andreea Zaharia
Kidney International Reports, Vol 10, Iss 1, Pp 120-133 (2025)
Academic Journal
Matthew Lynch; Sophie Manoy; Peter D. Sly; Claire E. Wainwright; Ernst Wolvetang; John E. Feenstra; Jason Dowling; Robert S. Ware; Maharshi S. Patel; Diana Hermith-Ramirez; Adam Vogel; Kahn Preece; Tania Zappala; Shuan Dai; Ann Webber; Abrey Yeo; Goutham Subramanian; Geetha Rao; Cindy S. Ma; Sara Jose; Magtouf Gatei; Bowen Xin; Nicoletta Sandona; Peter Lewindon; Katherine G. Sinclair; Sam Nayler; Martin F. Lavin; David J. Coman
EBioMedicine, Vol 118, Iss , Pp 105840- (2025)
Academic Journal
Rius, Rocio ; Compton, Alison G. ; Baker, Naomi L. ; Balasubramaniam, Shanti ; Best, Stephanie ; Bhattacharya, Kaustuv ; Boggs, Kirsten ; Boughtwood, Tiffany ; Braithwaite, Jeffrey ; Bratkovic, Drago ; Bray, Alessandra ; Brion, Marie-Jo ; Burke, Jo ; Casauria, Sarah ; Chong, Belinda ; Coman, David ; Cowie, Shannon ; Cowley, Mark ; de Silva, Michelle G. ; Delatycki, Martin B. ; Edwards, Samantha ; Ellaway, Carolyn ; Fahey, Michael C. ; Finlay, Keri ; Fletcher, Janice ; Frajman, Leah E. ; Frazier, Ann E. ; Gayevskiy, Velimir ; Ghaoui, Roula ; Goel, Himanshu ; Goranitis, Ilias ; Haas, Matilda ; Hock, Daniella H. ; Howting, Denise ; Jackson, Matilda R. ; Kava, Maina P. ; Kemp, Madonna ; King-Smith, Sarah ; Lake, Nicole J. ; Lamont, Phillipa J. ; Lee, Joy ; Long, Janet C. ; MacShane, Mandi ; Madelli, Evanthia O. ; Martin, Ellenore M. ; Marum, Justine E. ; Mattiske, Tessa ; McGill, Jim ; Metke, Alejandro ; Murray, Sean ; Panetta, Julie ; Phillips, Liza K. ; Quinn, Michael C.J. ; Ryan, Michael T. ; Schenscher, Sarah ; Simons, Cas ; Smith, Nicholas ; Stroud, David A. ; Tchan, Michel C. ; Tom, Melanie ; Wallis, Mathew ; Ware, Tyson L. ; Welch, AnneMarie E. ; Wools, Christine ; Wu, You ; Christodoulou, John ; Thorburn, David R.
In Genetics in Medicine January 2025 27(1)
Academic Journal
Uli Klümper; Giulia Gionchetta; Elisa Catão; Xavier Bellanger; Irina Dielacher; Alan Xavier Elena; Peiju Fang; Sonia Galazka; Agata Goryluk-Salmonowicz; David Kneis; Uchechi Okoroafor; Elena Radu; Mateusz Szadziul; Edina Szekeres; Adela Teban-Man; Cristian Coman; Norbert Kreuzinger; Magdalena Popowska; Julia Vierheilig; Fiona Walsh; Markus Woegerbauer; Helmut Bürgmann; Christophe Merlin; Thomas Ulrich Berendonk
Communications Biology, Vol 7, Iss 1, Pp 1-13 (2024)
Academic Journal
Energies, Vol 18, Iss 16, p 4354 (2025)
SUPT16H-associated neurodevelopmental disorder and neurocristopathy: genetic and phenotypic spectrum
Academic Journal
Lee, Eunhye; Sim, Seungmin; Choi, Hee-Jung; Liang, Eugene Y.; Le, Carolyn; Bina, Roya; Cohen, Ryan; George, Elizabeth; Kim, Soo Yeon; Bhat, Gifty; Falsey, Erin; Sidlow, Richard; Clinard, Kristin; Ben-Shachar, Shay; England, Eleina; Menendez, Beatriz; Herman, Isabella; Nielsen, Shelly; Punetha, Jaya; Bhola, Priya; Hamm, J. Austin; Keeney, Megan A.; Sitzman, Nike; Berger, Sara; Mehta, Lakshmi; Conn, Alison J.; Downie, Lilian; Ashfaq, Myla; Northrup, Hope; Bruel, Ange-Line; Odent, Sylvie; Szot, Justin O.; Martinez, Noelia Nunez; Park, Sunju; Refkin, Julie; Good, Jean-Marc; Maurer, Fabienne; Le Caignec, Cedric; Coman, David J.; Anderson, Erin; Richards, Linda J.; Dean, Ryan J.; Yang, Caleb; Choi, Chulwon; Hwang, Byung Joon; Lee, Jin Sook; Dobyns, William B.; Choi, Murim; Sherr, Elliott H.; Chae, Jong-Hee; Kee, Yun; Argilli, Emanuela
Academic Journal
Azmanov, Dimitar N.; Barnett, Christopher P.; Barry, Simon C.; Baynam, Gareth; Berkovic, Samuel F.; Christodoulou, John; Coman, David J.; Cooper, Sandra; Corbett, Mark A.; Delatycki, Martin; Dudding, Tracy E.; Fletcher, Sue; Gardner, Alison E.; Gecz, Jozef; Higgins, Megan J.; Hildebrand, Michael S.; Jolly, Lachlan A.; Lister, Ryan; McGaughran, Julie; Pflueger, Christian; Poulton, Cathryn; Roscioli, Tony; Hamish S. Scott, Ingrid Scheffer; Sinclair, Andrew H.; Spurdle, Amanda B.; Tan, Tiong Y.; van Eyk, Clare L.; Voineagu, Irina; Nicolas-Martinez, Emmylou C. ; Robinson, Olivia ; Gardner, Alison ; Ritchie, Tarin ; Kroes, Thessa ; Scheffer, Ingrid E. ; Barnier, Jean-Vianney ; Rousseau, Véronique ; Genevieve, David ; Haushalter, Virginie ; Piton, Amélie ; Denommé-Pichon, Anne-Sophie ; Bruel, Ange-Line ; Nambot, Sophie ; Isidor, Bertrand ; Grigg, John ; Gonzalez, Tina ; Ghedia, Sondhya ; Marchant, Rhett G. ; Bournazos, Adam ; Wong, Wui-Kwan ; Webster, Richard I. ; Evesson, Frances J. ; Jones, Kristi J. ; Cooper, Sandra T.
In The American Journal of Human Genetics 8 August 2024 111(8):1673-1699
Academic Journal
Bernhardt, Isaac ; Frajman, Leah E. ; Ryder, Bryony ; Andersen, Erik ; Wilson, Callum ; McKeown, Colina ; Anderson, Tim ; Coman, David ; Vincent, Andrea L. ; Buchanan, Christina ; Roxburgh, Richard ; Pitt, James ; De Hora, Mark ; Christodoulou, John ; Thorburn, David R. ; Wilson, Francessa ; Drake, Kylie M. ; Leask, Megan ; Yardley, Anne-Marie ; Merriman, Tony ; Robertson, Stephen ; Compton, Alison G. ; Glamuzina, Emma
In Molecular Genetics and Metabolism July 2024 142(3)
Academic Journal
Agrawal, Pankaj; Armstrong Scott, Daryl; Barkoudah, Elizabeth; Bellini, Melissa; Beneteau, Claire; Bjørgo, Kathrine; Brooks, Alice; Brown, Natasha; Castle, Alison; Castro, Diana; Chorin, Odelia; Cleghorn, Mark; Clement, Emma; Coman, David; Costin, Carrie; Devriendt, Koen; Dong, Dexin; Dries, Annika; Duelund Hjortshøj, Tina; Dyment, David; Eng, Christine; Genetti, Casie; Grano, Siera; Henneman, Peter; Heron, Delphine; Hoffmann, Katrin; Hom, Jason; Du, Haowei; Iascone, Maria; Isidor, Bertrand; Järvelä, Irma E.; Jones, Julie; Keren, Boris; Koenig, Mary Kay; Kohlhase, Jürgen; Lalani, Seema; Le Caignec, Cedric; Lewis, Andi; Liu, Pengfei; Lovgren, Alysia; Lupski, James R.; Lyons, Mike; Lysy, Philippe; Manning, Melanie; Marcelis, Carlo; McLean, Scott Douglas; Mercie, Sandra; Mertens, Mareike; Molin, Arnaud; Nizon, Mathilde; Nugent, Kimberly Margaret; Öhman, Susanna; O'Leary, Melanie; Okashah Littlejohn, Rebecca; Petit, Florence; Pfundt, Rolph; Pottocki, Lorraine; Raas-Rotschild, Annick; Ranguin, Kara; Revencu, Nicole; Rosenfeld, Jill; Rhodes, Lindsay; Santos Simmaro, Fernando; Sals, Karen; Schieving, Jolanda; Schrauwen, Isabelle; Schuurs-Hoeijmakers, Janneke H.M.; Seaby, Eleanor G.; Sheffer, Ruth; Snijders Blok, Lot; Sørensen, Kristina P.; Srivastava, Siddharth; Stark, Zornitza; Stoeva, Radka; Stutterd, Chloe; Tan, Natalie B.; Mathiesen Torring, Pernille; Vanakker, Olivier; van der Laan, Liselot; Ververi, Athina; Villavicencio-Lorini, Pablo; Vincent, Marie; Wand, Dorothea; Wessels, Marja; White, Sue; Wojcik, Monica H.; Wu, Nan; Zhao, Sen; Pérez Baca, María del Rocío ; Jacobs, Eva Z. ; Vantomme, Lies ; Leblanc, Pontus ; Bogaert, Elke ; Dheedene, Annelies ; De Cock, Laurenz ; Haghshenas, Sadegheh ; Foroutan, Aidin ; Levy, Michael A. ; Kerkhof, Jennifer ; McConkey, Haley ; Chen, Chun-An ; Batzir, Nurit Assia ; Wang, Xia ; Palomares, María ; Carels, Marieke ; Dermaut, Bart ; Sadikovic, Bekim ; Menten, Björn ; Yuan, Bo ; Vergult, Sarah ; Callewaert, Bert
In The American Journal of Human Genetics 7 March 2024 111(3):509-528
Academic Journal
Chen, Yuyang; Dawes, Ruebena; Kim, Hyung Chul; Ljungdahl, Alicia; Stenton, Sarah L.; Walker, Susan; Lord, Jenny; Lemire, Gabrielle; Martin-Geary, Alexandra C.; Ganesh, Vijay S.; Ma, Jialan; Ellingford, Jamie M.; Delage, Erwan; D’Souza, Elston N.; Dong, Shan; Adams, David R.; Allan, Kirsten; Bakshi, Madhura; Baldwin, Erin E.; Berger, Seth I.; Bernstein, Jonathan A.; Bhatnagar, Ishita; Blair, Ed; Brown, Natasha J.; Burrage, Lindsay C.; Chapman, Kimberly; Coman, David J.; Compton, Alison G.; Cunningham, Chloe A.; D’Souza, Precilla; Danecek, Petr; Délot, Emmanuèle C.; Dias, Kerith-Rae; Elias, Ellen R.; Elmslie, Frances; Evans, Care-Anne; Ewans, Lisa; Ezell, Kimberly; Fraser, Jamie L.; Gallacher, Lyndon; Genetti, Casie A.; Goriely, Anne; Grant, Christina L.; Haack, Tobias; Higgs, Jenny E.; Hinch, Anjali G.; Hurles, Matthew E.; Kuechler, Alma; Lachlan, Katherine L.; Lalani, Seema R.; Lecoquierre, François; Leitão, Elsa; Fevre, Anna Le; Leventer, Richard J.; Liebelt, Jan E.; Lindsay, Sarah; Lockhart, Paul J.; Ma, Alan S.; Macnamara, Ellen F.; Mansour, Sahar; Maurer, Taylor M.; Mendez, Hector R.; Metcalfe, Kay; Montgomery, Stephen B.; Moosajee, Mariya; Nassogne, Marie-Cécile; Neumann, Serena; O’Donoghue, Michael; O’Leary, Melanie; Palmer, Elizabeth E.; Pattani, Nikhil; Phillips, John; Pitsava, Georgia; Pysar, Ryan; Rehm, Heidi L.; Reuter, Chloe M.; Revencu, Nicole; Riess, Angelika; Rius, Rocio; Rodan, Lance; Roscioli, Tony; Rosenfeld, Jill A.; Sachdev, Rani; Shaw-Smith, Charles J.; Simons, Cas; Sisodiya, Sanjay M.; Snell, Penny; St Clair, Laura; Stark, Zornitza; Stewart, Helen S.; Tan, Tiong Yang; Tan, Natalie B.; Temple, Suzanna E. L.; Thorburn, David R.; Tifft, Cynthia J.; Uebergang, Eloise; VanNoy, Grace E.; Vasudevan, Pradeep; Vilain, Eric; Viskochil, David H.; Wedd, Laura; Wheeler, Matthew T.; White, Susan M.; Wojcik, Monica; Wolfe, Lynne A.; Wolfenson, Zoe; Wright, Caroline F.; Xiao, Changrui; Zocche, David; Rubenstein, John L.; Markenscoff-Papadimitriou, Eirene; Fica, Sebastian M.; Baralle, Diana; Depienne, Christel; MacArthur, Daniel G.; Howson, Joanna M. M.; Sanders, Stephan J.; O’Donnell-Luria, Anne; Whiffin, Nicola
Nature: International weekly journal of science. 632(8026):832-840
Academic Journal
Demetriou, Kalliope ; Nisbet, Janelle ; Coman, David ; Ewing, Adam D. ; Phillips, Liza ; Smith, Sally ; Lipke, Michelle ; Inwood, Anita ; Spicer, Janette ; Atthow, Catherine ; Wilgen, Urs ; Robertson, Thomas ; McWhinney, Avis ; Swenson, Rebecca ; Espley, Brayden ; Snowdon, Brianna ; McGill, James J. ; Summers, Kim M.
In Molecular Genetics and Metabolism August 2024 142(4)
Academic Journal
Renata Neves; Blanca De Dios Perez; Rafal Panek; Sumit Jagani; Sophie Wilne; Jayesh M. Bhatt; Caterina Caputi; Emilia Cirillo; David J. Coman; Gregor Dückers; Donald L. Gilbert; Mary Kay Koenig; Lobna Mansour; Elizabeth McDermott; Micaela Pauni; Claudio Pignata; Susan L. Perlman; Oscar Porras; Mariela Betina Porto; Katherine Schon; Pere Soler‐Palacin; Sam Nick Russo; Masatoshi Takagi; Marc Tischkowitz; Claire Wainwright; Madhumita Dandapani; Cristine Glazebrook; Mohnish Suri; William P. Whitehouse; Robert A. Dineen
Cancer Medicine, Vol 12, Iss 13, Pp 14663-14673 (2023)
Academic Journal
Vogel, Georg F. ; Mozer-Glassberg, Yael ; Landau, Yuval E. ; Schlieben, Lea D. ; Prokisch, Holger ; Feichtinger, René G. ; Mayr, Johannes A. ; Brennenstuhl, Heiko ; Schröter, Julian ; Pechlaner, Agnes ; Alkuraya, Fowzan S. ; Baker, Joshua J. ; Barcia, Giulia ; Baric, Ivo ; Braverman, Nancy ; Burnyte, Birute ; Christodoulou, John ; Ciara, Elzbieta ; Coman, David ; Das, Anibh M. ; Darin, Niklas ; Della Marina, Adela ; Distelmaier, Felix ; Eklund, Erik A. ; Ersoy, Melike ; Fang, Weiyan ; Gaignard, Pauline ; Ganetzky, Rebecca D. ; Gonzales, Emmanuel ; Howard, Caoimhe ; Hughes, Joanne ; Konstantopoulou, Vassiliki ; Kose, Melis ; Kerr, Marina ; Khan, Aneal ; Lenz, Dominic ; McFarland, Robert ; Margolis, Merav Gil ; Morrison, Kevin ; Müller, Thomas ; Murayama, Kei ; Nicastro, Emanuele ; Pennisi, Alessandra ; Peters, Heidi ; Piekutowska-Abramczuk, Dorota ; Rötig, Agnès ; Santer, René ; Scaglia, Fernando ; Schiff, Manuel ; Shagrani, Mohmmad ; Sharrard, Mark ; Soler-Alfonso, Claudia ; Staufner, Christian ; Storey, Imogen ; Stormon, Michael ; Taylor, Robert W. ; Thorburn, David R. ; Teles, Elisa Leao ; Wang, Jian-She ; Weghuber, Daniel ; Wortmann, Saskia
In Genetics in Medicine June 2023 25(6)
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