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Christian R. Marshall

the hospital for sick children

76H-index
333Paper Count
3.6WCitation Count
Published Papers 145
Publication Date
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Clinical applications of and molecular insights from RNA sequencing in a rare disease cohort
errGenome Medicine
IF11.2
err2026-03-24
err0
errOAAI
errJamie C. Stark; Neta Pipko; Yijing Liang; Anna Szuto; Chung Ting Tsoi; Megan A. Dickson; Kyoko E. Yuki; Huayun Hou; Sydney Scholten; Kenzie Pulsifer; Meryl Acker; Meredith Laver; Harsha Murthy; Olivia M. Moran; Emily Bonnell; Nicole Liang; Jashanpreet Sidhu; Lucie Dupuis; Mohammad M. Ghahramani Seno; Marisa Chard; Rebekah K. Jobling; Jessie Cameron; Rose Chami; Michal Inbar-Feigenberg; Michael D. Wilson; David A. Chitayat; Kym M. Boycott; Lianna Kyriakopoulou; Roberto Mendoza-Londono; Christian R. Marshall; James J. Dowling; Gregory Costain; Ashish R. Deshwar
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Retinal Pigment Epitheliopathy due to Sub-Optimal Recycling of Vitamin A (RESORVA): A Novel RDH11-Related Phenotype
errClinical Genetics
IF2.3
err2025-12-01
err0
errOAAI
errStephenson, Kirk A. J.; Shao, Zhuo; Tumber, Anupreet; Tavares, Erika; Ahmed, Kashif; Higginbotham, Edward J.; Marshall, Christian R.; Maynes, Jason T.; Rajala, Ammaji; Rajala, Raju V. S.; Heon, Elise; Vincent, Ajoy
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Pathogenic UNC13A variants cause a neurodevelopmental syndrome by impairing synaptic function
errNature Genetics
IF29
err2025-10-22
err0
errOAAI
errReza Asadollahi; Aisha Ahmad; Paranchai Boonsawat; Jasmine Shahanoor Hinzen; Mareike Lohse; Boris Bouazza-Arostegui; Siqi Sun; Tillmann Utesch; Jonas D. Sommer; Dragana Ilic; Murugesh Padmanarayana; Kati Fischermanns; Mrinalini Ranjan; Moritz Boll; Chandran Ka; Amélie Piton; Francesca Mattioli; Bertrand Isidor; Katrin Õunap; Karit Reinson; Monica H. Wojcik; Christian R. Marshall; Saadet Mercimek-Andrews; Naomichi Matsumoto; Noriko Miyake; Bruno de Oliveira Stephan; Rachel Sayuri Honjo; Debora R. Bertola; Chong Ae Kim; Roman Yusupov; Heather C. Mefford; John Christodoulou; Joy Lee; Oliver Heath; Natasha J. Brown; Naomi Baker; Zornitza Stark; Martin Delatycki; Nicole J. Lake; Shimriet Zeidler; Linda Zuurbier; Saskia M. Maas; Chris C. de Kruiff; Farrah Rajabi; Lance H. Rodan; Stephanie A. Coury; Konrad Platzer; Henry Oppermann; Rami Abou Jamra; Skadi Beblo; Caroline Maxton; Robert Śmigiel; Hunter Underhill; Holly Dubbs; Alyssa Rosen; Katherine L. Helbig; Ingo Helbig; Sarah McKeown Ruggiero; Mark P. Fitzgerald; Dennis Kraemer; Carlos E. Prada; Jeffrey Tenney; Parul Jayakar; Sylvia Redon; Jérémie Lefranc; Kevin Uguen; Simone Race; Stephanie Efthymiou; Reza Maroofian; Henry Houlden; Sandra Coppens; Nicolas Deconinck; Balasubramaniem Ashokkumar; Perumal Varalakshmi; Vykunta Raju Gowda K; Fatemeh Eghbal; Ehsan Ghayoor Karimiani; Morteza Heidari; John Neidhardt; Marta Owczarek-Lipska; G. Christoph Korenke; Michael J. Bamshad; Philippe M. Campeau; Anna Lehman; Laura G. Hendon; Ingrid M. Wentzensen; Kristin G. Monaghan; Yanmin Chen; Anna Szuto; Ronald D. Cohn; Ping Yee Billie Au; Christoph Hübner; Felix Boschann; Kandamurugu Manickam; Daniel C. Koboldt; Aboulfazl Rad; Gabriela Oprea; Kristine K. Bachman; Andrea H. Seeley; Emanuele Agolini; Alessandra Terracciano; Piscopo Carmelo; Caleb Bupp; Bethany Grysko; Annick Rein-Rothschild; Bruria Ben Zeev; Amy Margolin; Jennifer Morrison; Aditi Dagli; Elliot Stolerman; Raymond J. Louie; Camerun Washington; Servi J. C. Stevens; Malou Heijligers; Fowzan S. Alkuraya; Jasmin Lisfeld; Axel Neu; Fabíola Paoli Monteiro; André Luiz Santos Pessoa; Antonio Edvan Camelo-Filho; Fernando Kok; Dwight Koeberl; Kacie Riley; Lydie Burglen; Diane Doummar; Bénédicte Héron; Cyril Mignot; Boris Keren; Perrine Charles; Caroline Nava; Felix P. Bernhard; Andrea A. Kühn; Sven Thoms; Ryan D. Morrie; Shila Mekhoubad; Eric M. Green; Sami J. Barmada; Aaron D. Gitler; Olaf Jahn; Jeong Seop Rhee; Christian Rosenmund; Mišo Mitkovski; Heinrich Sticht; Han Sun; Gerald Le Gac; Holger Taschenberger; Nils Brose; Jeremy S. Dittman; Anita Rauch; Noa Lipstein
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Screening rare genetic diagnoses for amenability to bespoke antisense oligonucleotide therapy development: a retrospective cohort study
errGenetics in Medicine
IF6.2
err2025-10-11
err0
PREAI
errDavid Cheerie; Marlen C. Lauffer; Logan Newton; Kimberly Amburgey; Danique Beijer; Bushra Haque; Brian T. Kalish; Margaret Meserve; Rachel Y. Oh; Amy Y. Pan; Miriam S. Reuter; Michael J. Szego; Anna Szuto; Annemieke Aartsma-Rus; Michelle M. Axford; Ashish R. Deshwar; James J. Dowling; Christian R. Marshall; Zhenya Ivakine; Matthis Synofzik; Timothy W. Yu; Gregory Costain
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Comparing the performance of exome and genome sequencing for rare disease diagnostics: A randomized implementation effectiveness trial
errGenetics in Medicine
IF6.2
err2025-10-10
err0
PREAI
errRobin Z. Hayeems; Wendy J. Ungar; Christian R. Marshall; Meredith K. Gillespie; Anna Szuto; Lijia Huang; Viji Venkataramanan; Bowen Xiao; Caitlin Chisholm; D.James Stavropoulos; Mélanie Beaulieu Bergeron; Whiwon Lee; Gregory Costain; Rebekah Jobling; Sarah Sawyer; E.Magda Price; Lynette Lau; Roberto Mendoza; Martin J. Somerville; Kym M. Boycott
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A Microcosting and Cost Consequence Analysis from a Randomized Controlled Trial Comparing Genome Sequencing to Exome Sequencing for Genetic Diagnosis
errGenetics in Medicine
IF6.2
err2025-08-21
err0
errOAAI
errWendy J. Ungar; Vercancy Wu; Christian R. Marshall; Jackie Hwang; Robin Z. Hayeems; Kate Tsiplova; Meredith K. Gillespie; Anna Szuto; Caitlin Chisholm; Dimitri J. Stavropoulos; Viji Venkataramanan; Bowen Xiao; Gregory Costain; Mélanie Beaulieu Bergeron; Sarah Sawyer; Lynette Lau; Lijia Huang; Roberto Mendoza-Londono; Martin J. Somerville; Kym M. Boycott
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Autosomal dominant Roquin-1 immunodeficiency and hyper-inflammation
errJournal of Allergy and Clinical Immunology
IF11.2
err2025-08-05
err0
PREAI
errAmit Nahum; Nigel Sharfe; Daniele Merico; Kelli W. Williams; Dionne Aleman; Christian R. Marshall; Azhar Al Shaqaq; Abdulrahman Al Ghamdi; Harjit Dadi; Linda Vong; Stephen Betschel; Chaim M. Roifman
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The evolution of health data ecosystems: An international survey
erramerican journal of human genetics
IF0
err2025-07-21
err0
PREAI
errJordan P. Lerner-Ellis; E. Magda Price; Shazia Subhani; Tiffany Boughtwood; Marie-Jo Brion; Augusto Rendon; Lene Cividanes; Jacob Gemmer; Danielle Ciofani; Nicolas Bertin; Seow Shih Wee; Stephen Robertson; Batoul Baz; Katrin Crameri; Sabine Österle; Valtteri Wirta; Per Sikora; Anna Lindstrand; Frédérique Nowak; Inês Amado; Nicola Jane Mulder; Andrea Ganna; Peter Goodhand; Lindsay D. Smith; Christian R. Marshall; Ma’n Zawati; Vincent Ferretti; Jacques L. Michaud; Dennis Bulman; Francois Bernier; Kym M. Boycott
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Assessing the diagnostic impact of blood transcriptome profiling in a pediatric cohort previously assessed by genome sequencing
errnpj Genomic Medicine
IF4.8
err2025-07-01
err0
PREAI
errHuayun Hou; Kyoko E. Yuki; Gregory Costain; Anna Szuto; Sierra Barnes; Arun K. Ramani; Alper Celik; Michael Braga; Meagan Gloven-Brown; Dimitri J. Stavropoulos; Sarah Bowdin; Ronald D. Cohn; Roberto Mendoza-Londono; Stephen W. Scherer; Michael Brudno; Christian R. Marshall; M. Stephen Meyn; Adam Shlien; James J. Dowling; Michael D. Wilson; Lianna Kyriakopoulou
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Clinical utility of genome sequencing in autism: illustrative examples from a genomic research study
errJOURNAL OF MEDICAL GENETICS
IF3.7
err2025-04-01
err0
PREAI
errSelvanayagam, Thanuja; Hoang, Ny; Sarikaya, Ege; Howe, Jennifer; Russell, Carolyn; Iaboni, Alana; Quirbach, Morgan; Marshall, Christian R.; Szatmari, Peter; Anagnostou, Evdokia; Vorstman, Jacob; Hartley, Dean M.; Scherer, Stephen W.
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Genome sequencing reveals novel IKBKG structural variants associated with incontinentia pigmenti
errBRITISH JOURNAL OF DERMATOLOGY
IF9.6
err2024-11-23
err0
PREAI
errPipko, Neta; Oh, Rachel Youjin; Kaplan, Aiyana; Shugar, Andrea; Szuto, Anna; Weinstein, Miriam; Yoon, Grace; Mendoza-Londono, Roberto; Pope, Elena; Young, Ted; Marshall, Christian R.; Costain, Gregory; Lara-Corrales, Irene; Wang, Yiming
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errSave
A call to action to scale up research and clinical genomic data sharing
errNATURE REVIEWS GENETICS
IF52
err2024-10-07
err0
PREAI
errStark, Zornitza; Glazer, David; Hofmann, Oliver; Rendon, Augusto; Marshall, Christian R.; Ginsburg, Geoffrey S.; Lunt, Chris; Allen, Naomi; Effingham, Mark; Ward, Jillian Hastings; Hill, Sue L.; Ali, Raghib; Goodhand, Peter; Page, Angela; Rehm, Heidi L.; North, Kathryn N.; Scott, Richard H.
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errSave
A systematic assessment of the impact of rare canonical splice site variants on splicing using functional and in silico methods
errHUMAN GENETICS AND GENOMICS ADVANCES
IF3.6
err2024-07-01
err4
errOAAI
errOh, Rachel Y.; Almail, Ali; Cheerie, David; Guirguis, George; Hou, Huayun; Yuki, Kyoko E.; Haque, Bushra; Thiruvahindrapuram, Bhooma; Marshall, Christian R.; Mendoza-Londono, Roberto; Shlien, Adam; Kyriakopoulou, Lianna G.; Walker, Susan; Dowling, James J.; Wilson, Michael D.; Costain, Gregory
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errSave
Comprehensive whole-genome sequence analyses provide insights into the genomic architecture of cerebral palsy
errNATURE GENETICS
IF31.8
err2024-03-29
err7
PREAI
errFehlings, Darcy L.; Zarrei, Mehdi; Engchuan, Worrawat; Sondheimer, Neal; Thiruvahindrapuram, Bhooma; MacDonald, Jeffrey R.; Higginbotham, Edward J.; Thapa, Ritesh; Behlim, Tarannum; Aimola, Sabrina; Switzer, Lauren; Ng, Pamela; Wei, John; Danthi, Prakroothi S.; Pellecchia, Giovanna; Lamoureux, Sylvia; Ho, Karen; Pereira, Sergio L.; de Rijke, Jill; Sung, Wilson W. L.; Mowjoodi, Alireza; Howe, Jennifer L.; Nalpathamkalam, Thomas; Manshaei, Roozbeh; Ghaffari, Siavash; Whitney, Joseph; Patel, Rohan V.; Hamdan, Omar; Shaath, Rulan; Trost, Brett; Knights, Shannon; Samdup, Dawa; McCormick, Anna; Hunt, Carolyn; Kirton, Adam; Kawamura, Anne; Mesterman, Ronit; Gorter, Jan Willem; Dlamini, Nomazulu; Merico, Daniele; Hilali, Murto; Hirschfeld, Kyle; Grover, Kritika; Bautista, Nelson X.; Han, Kara; Marshall, Christian R.; Yuen, Ryan K. C.; Subbarao, Padmaja; Azad, Meghan B.; Turvey, Stuart E.; Mandhane, Piush; Moraes, Theo J.; Simons, Elinor; Maxwell, George; Shevell, Michael; Costain, Gregory; Michaud, Jacques L.; Hamdan, Fadi F.; Gauthier, Julie; Uguen, Kevin; Stavropoulos, Dimitri J.; Wintle, Richard F.; Oskoui, Maryam; Scherer, Stephen W.
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The landscape of reported VUS in multi-gene panel and genomic testing: Time for a change
errGENETICS IN MEDICINE
IF6.2
err2023-12-01
err36
errOAAI
errRehm, Heidi L.; Alaimo, Joseph T.; Aradhya, Swaroop; Bayrak-Toydemir, Pinar; Best, Hunter; Brandon, Rhonda; Buchan, Jillian G.; Chao, Elizabeth C.; Chen, Elaine; Clifford, Jacob; Cohen, Ana S. A.; Conlin, Laura K.; Das, Soma; Davis, Kyle W.; del Gaudio, Daniela; Del Viso, Florencia; Divincenzo, Christina; Eisenberg, Marcia; Guidugli, Lucia; Hammer, Monia B.; Harrison, Steven M.; Hatchell, Kathryn E.; Dyer, Lindsay Havens; Hoang, Lily U.; Holt, James M.; Jobanputra, Vaidehi; Karbassi, Izabela D.; Kearney, Hutton M.; Kelly, Melissa A.; Kelly, Jacob M.; Kluge, Michelle L.; Komala, Timothy; Kruszka, Paul; Lau, Lynette; Lebo, Matthew S.; Marshall, Christian R.; Mcknight, Dianalee; Mcwalter, Kirsty; Meng, Yan; Nagan, Narasimhan; Neckelmann, Christian S.; Neerman, Nir; Niu, Zhiyv; Paolillo, Vitoria K.; Paolucci, Sarah A.; Perry, Denise; Pesaran, Tina; Radtke, Kelly; Rasmussen, Kristen J.; Retterer, Kyle; Saunders, Carol J.; Spiteri, Elizabeth; Stanley, Christine; Szuto, Anna; Taft, Ryan J.; Thiffault, Isabelle; Thomas, Brittany C.; Thomas-Wilson, Amanda; Thorpe, Erin; Tidwell, Timothy J.; Towne, Meghan C.; Zouk, Hana
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errSave
Protocol for a Prospective, Observational Cost-effectiveness Analysis of Returning Secondary Findings of Genome Sequencing for Unexplained Suspected Genetic Conditions
errCLINICAL THERAPEUTICS
IF3.6
err2023-08-01
err1
PREAI
errUngar, Wendy J.; Hayeems, Robin Z.; Marshall, Christian R.; Gillespie, Meredith K.; Szuto, Anna; Chisholm, Caitlin; Stavropoulos, D. James; Huang, Lijia; Jarinova, Olga; Wu, Vercancy; Tsiplova, Kate; Lau, Lynnette; Lee, Whiwon; Venkataramanan, Viji; Sawyer, Sarah; Mendoza-Londono, Roberto; Somerville, Martin J.; Boycott, Kym M.
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errSave
Gene copy number variation and pediatric mental health/neurodevelopment in a general population
errHUMAN MOLECULAR GENETICS
IF3.2
err2023-05-08
err11
errOAAI
errZarrei, Mehdi; Burton, Christie L.; Engchuan, Worrawat; Higginbotham, Edward J.; Wei, John; Shaikh, Sabah; Roslin, Nicole M.; MacDonald, Jeffrey R.; Pellecchia, Giovanna; Nalpathamkalam, Thomas; Lamoureux, Sylvia; Manshaei, Roozbeh; Howe, Jennifer; Trost, Brett; Thiruvahindrapuram, Bhooma; Marshall, Christian R.; Yuen, Ryan K. C.; Wintle, Richard F.; Strug, Lisa J.; Stavropoulos, Dimitri J.; Vorstman, Jacob A. S.; Arnold, Paul; Merico, Daniele; Woodbury-Smith, Marc; Crosbie, Jennifer; Schachar, Russell J.; Scherer, Stephen W.
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Trio RNA sequencing in a cohort of medically complex children
errAMERICAN JOURNAL OF HUMAN GENETICS
IF8.1
err2023-05-01
err7
errOAAI
errDeshwar, Ashish R.; Yuki, Kyoko E.; Hou, Huayu; Liang, Yijing; Khan, Tayyaba; Celik, Alper; Ramani, Arun; Mendoza-Londono, Robert; Marshall, Christian R.; Brudno, Michael; Shlien, Adam; Meyn, M. Stephen; Hayeems, Robin Z.; McKinlay, Brandon J.; Klentrou, Panagiot; Wilson, Michael D.; Kyriakopoulou, Liann; Costain, Gregory; Dowling, James J.
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Genome-Wide Sequencing Identified Rare Genetic Variants for Childhood-Onset Monogenic Lupus
errJOURNAL OF RHEUMATOLOGY
IF3.4
err2022-11-15
err7
PREAI
errMisztal, Melissa C.; Liao, Fangming; Couse, Madeline; Cao, Jingjing; Dominguez, Daniela; Lau, Lynette; Marshall, Christian R.; Naumenko, Sergey; Knight, Andrea M.; Levy, Deborah M.; Hiraki, Linda T.
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Common Genetic Variation and Age of Onset of Anorexia Nervosa
errBIOLOGICAL PSYCHIATRY: GLOBAL OPEN SCIENCE
IF3.7
err2022-10-01
err12
errOAAI
errWatson, Hunna J.; Thornton, Laura M.; Yilmaz, Zeynep; Baker, Jessica H.; Coleman, Jonathan R. I.; Adan, Roger A. H.; Alfredsson, Lars; Andreassen, Ole A.; Ask, Helga; Berrettini, Wade H.; Boehnke, Michael; Boehm, Ilka; Boni, Claudette; Buehren, Katharina; Bulant, Josef; Burghardt, Roland; Chang, Xiao; Cichon, Sven; Cone, Roger D.; Courtet, Philippe; Crow, Scott; Crowley, James J.; Danner, Unna N.; de Zwaan, Martina; Dedoussis, George; DeSocio, Janiece E.; Dick, Danielle M.; Dikeos, Dimitris; Dina, Christian; Djurovic, Srdjan; Dmitrzak-Weglarz, Monika; Docampo-Martinez, Elisa; Duriez, Philibert; Egberts, Karin; Ehrlich, Stefan; Eriksson, Johan G.; Escaramis, Georgia; Esko, Tonu; Estivill, Xavier; Farmer, Anne; Fernandez-Aranda, Fernando; Fichter, Manfred M.; Foecker, Manuel; Foretova, Lenka; Forstner, Andreas J.; Frei, Oleksandr; Gallinger, Steven; Giegling, Ina; Giuranna, Johanna; Gonidakis, Fragiskos; Gorwood, Philip; Gratacos, Monica; Guillaume, Sebastien; Guo, Yiran; Hakonarson, Hakon; Hauser, Joanna; Havdahl, Alexandra; Hebebrand, Johannes; Helder, Sietske G.; Herms, Stefan; Herpertz-Dahlmann, Beate; Herzog, Wolfgang; Hinney, Anke; Huebel, Christopher; Hudson, James I.; Imgart, Hartmut; Jamain, Stephanie; Janout, Vladimir; Jimenez-Murcia, Susana; Jones, Ian R.; Julia, Antonio; Kalsi, Gursharan; Kaminska, Deborah; Kaprio, Jaakko; Karhunen, Leila; Kas, Martien J. H.; Keel, Pamela K.; Kennedy, James L.; Keski-Rahkonen, Anna; Kiezebrink, Kirsty; Klareskog, Lars; Klump, Kelly L.; Knudsen, Gun Peggy S.; La Via, Maria C.; Le Hellard, Stephanie; Leboyer, Marion; Li, Dong; Lilenfeld, Lisa; Lin, Bochao; Lissowska, Jolanta; Luykx, Jurjen; Magistretti, Pierre; Maj, Mario; Marsal, Sara; Marshall, Christian R.; Mattingsdal, Morten; Meulenbelt, Ingrid; Micali, Nadia; Mitchell, Karen S.; Monteleone, Alessio Maria; Monteleone, Palmiero; Myers, Richard; Navratilova, Marie; Ntalla, Ionna; O'Toole, Julie K.; Ophoff, Roel A.; Padyukov, Leonid; Pantel, Jacques; Papezova, Hana; Pinto, Dalila; Raevuori, Anu; Ramoz, Nicolas; Reichborn-Kjennerud, Ted; Ricca, Valdo; Ripatti, Samuli; Ripke, Stephan; Ritschel, Franziska; Roberts, Marion; Rotondo, Alessandro; Rujescu, Dan; Rybakowski, Filip; Scherag, Andre; Scherer, Stephen W.; Schmidt, Ulrike; Scott, Laura J.; Seitz, Jochen; Silen, Yasmina; Slachtova, Lenka; Slagboom, P. Eline; Slof-Op 't Landt, Margarita C. T.; Slopien, Agnieszka; Sorbi, Sandro; Swiatkowska, Beata; Tortorella, Alfonso; Tozzi, Federica; Treasure, Janet; Tsitsika, Artemis; Tyszkiewicz-Nwafor, Marta; Tziouvas, Konstantinos; van Elburg, Annemarie A.; van Furth, Eric F.; Walton, Esther; Widen, Elisabeth; Zerwas, Stephanie; Zipfel, Stephan; Bergen, Andrew W.; Boden, Joseph M.; Brandt, Harry; Crawford, Steven; Halmi, Katherine A.; Horwood, L. John; Johnson, Craig; Kaplan, Allan S.; Kaye, Walter H.; Mitchell, James E.; Olsen, Catherine M.; Pearson, John F.; Pedersen, Nancy L.; Strober, Michael; Werge, Thomas; Whiteman, David C.; Woodside, D. Blake; Gordon, Scott; Maguire, Sarah; Larsen, Janne T.; Parker, Richard; Petersen, Liselotte, V; Jordan, Jennifer; Kennedy, Martin; Wade, Tracey D.; Birgegard, Andreas; Lichtenstein, Paul; Landen, Mikael; Martin, Nicholas G.; Mortensen, Preben Bo; Breen, Gerome; Bulik, Cynthia M.
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Research Directions

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Co-authors
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