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231
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P575: The Rare Genomes Project: Improving access to genomic sequencing and identifying causes of rare disease*
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Austin-Tse, Christina;
DiTroia, Stephanie;
O'Leary, Melanie;
VanNoy, Grace;
Mangilog, Brian;
Shah, Gulalai;
Martinez, Eva;
Serrano, Jillian;
Pais, Lynn;
O'Heir, Emily;
Osei-Owusu, Ikeoluwa;
Lemire, Gabrielle;
Ganesh, Vijay;
Stenton, Sarah;
Amin, Mutaz;
Socarras, Kayla;
Singh, Mugdha;
Hall, Stacey;
Larsson, Katie;
Singer-Berk, Moriel;
Marten, Daniel;
Wilson, Michael;
Snow, Hana;
Blankenmeister, Benjamin;
Ma, Jialan;
Weisburd, Ben;
Sanchis-Juan, Alba;
Brand, Harrison;
Groopman, Emily;
Lovgren, Alysia;
Williamson, Clara;
Hollyer, Marissa;
England, Eleina;
Seaby, Eleanor;
Chao, Katherine;
Goodrich, Julia;
Baxter, Samantha;
MacArthur, Daniel;
Talkowski, Michael;
Wojcik, Monica;
O'Donnell-Luria, Anne;
Rehm, Heidi;
;
(Genetics in medicine open,
v.2,
2024,
pp.101481)
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232
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Clinical and Psychosocial Stress Factors are Associated with Decline in Physical Activity Over Time in Children with Juvenile Idiopathic Arthritis
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Heale Liane D;
Houghton Kristin;
Rezaei Elham;
Baxter-Jones Adam D.G.;
Tupper Susan M;
Muhajarine Nazeem;
Benseler Susanne M;
Boire Gilles;
Cabral David A;
Campillo Sarah;
Chedeville Gaelle;
Chetaille Anne-Laure;
Dancey Paul;
Duffy Ciaran;
Duffy Karen Watanabe;
Ellsworth Janet;
Guzman Jaime;
Huber Adam M;
Jurencak Roman;
Lang Bianca;
Laxer Ronald M;
Morishita Kimberly;
Oen Keim G;
Petty Ross E;
Ramsey Suzanne E;
Roth Johannes;
Schneider Rayfel;
Scuccimarri Rosie;
Spiegel Lynn;
Stringer Elizabeth;
McMaster University;
BC Children'
s Hospital;
University of Saskatchewan;
University of Saskatchewan;
University of Saskatchewan;
University of Saskatchewan;
University of Calgary;
University of Sherbrooke: Universite de Sherbrooke;
The University of British Columbia;
McGill University;
McGill University;
Centre hospitalier universitaire de Québec: CHU de Quebec-Universite Laval;
Memorial University of Newfoundland;
University of Ottawa;
University of Ottawa;
University of Alberta;
The University of British Columbia;
Dalhousie University;
University of Ottawa;
Dalhousie University;
University of Toronto;
The University of British Columbia;
University of Manitoba;
The University of British Columbia;
Dalhousie University;
University of Ottawa;
University of Toronto;
McGill University;
University of Toronto;
Dalhousie University;
(,
v.,
2021,
)
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233
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Exit-Site Infection in Continuous Ambulatory Peritoneal Dialysis: A Review
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Luzar, Mary Anne;
Baxter R&D Europe, Nivelles, Belgium;
(Peritoneal dialysis international : journal of the International Society for Peritoneal Dialysis,
v.11,
1991,
pp.333-340)
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234
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Phenotype and genetic analysis of data collected within the first year of NeuroDev: A Pilot Study
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Kipkemoi Patricia;
Kim Heesu Ally;
Christ Bjorn;
O’Heir Emily;
Allen Jake;
Austin-Tse Christina;
Baxter Samantha;
Brand Harrison;
Bryant Sam;
Buser Nick;
de Menil Victoria;
Eastman Emma;
Galvin Alice;
Kombe Martha;
Kipkoech Collins;
Lovgren Alysia;
MacArthur Daniel G.;
Melly Brigitte;
Mwangasha Katini;
Sanchis-Juan Alba;
Singer-Berk Moriel;
Talkowski Michael E.;
VanNoy Grace;
van der Merwe Celia;
Newton Charles;
O’Donnell-Luria Anne;
Abubakar Amina;
Donald Kirsten A;
Robinson Elise;
The NeuroDev Project;
;
(,
v.,
2022,
)
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235
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Angiogenic and immune predictors of neoadjuvant axitinib response in renal cell carcinoma with venous tumour thrombus
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Wray, Rebecca;
Paverd, Hania;
Machado, Ines;
Barbieri, Johanna;
Easita, Farhana;
Edwards, Abigail R.;
Gallagher, Ferdia A.;
Mendichovszky, Iosif A.;
Mitchell, Thomas J.;
de la Roche, Maike;
Shields, Jacqueline D.;
Ursprung, Stephan;
Wallis, Lauren;
Warren, Anne Y.;
Welsh, Sarah J.;
Crispin-Ortuzar, Mireia;
Stewart, Grant D.;
Jones, James O.;
Couper, Niki;
Hopcroft, Lisa E. M.;
Hill, Robert;
Matakidou, Athena;
Caasi, Cara;
Watson, James;
Cross, Ruby;
Burge, Sarah W.;
George, Anne;
Klatte, Tobias;
Aho, Tevita F.;
Armitage, James N.;
Rossi, Sabrina Helena;
Massie, Charlie;
Anand, Shubha;
Haddow, Tiffany;
Dodd, Marc;
Deng, Wenhan;
Martin, Ezequiel;
Howden, Philip;
Wenlock, Stephanie;
Sala, Evis;
Symeonides, Stefan;
Ho, Lynn;
Baxter, Jennifer;
Leslie, Stuart;
McLaren, Duncan;
Brush, John;
O’Donnell, Marie;
Griffin, Alisa;
Orr, Ruth;
Cowan, Catriona;
Powles, Thomas;
Pejnovic, Anna;
Tincey, Sophia;
Grant, Lee;
Nuttall, Martin;
Willsher,;
;
(Nature communications,
v.16,
2025,
pp.3870)
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236
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Centers for Mendelian Genomics: A decade of facilitating gene discovery
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Baxter Samantha M.;
Posey Jennifer E.;
Lake Nicole J.;
Sobreira Nara;
Chong Jessica X.;
Buyske Steven;
Blue Elizabeth E.;
Chadwick Lisa H.;
Coban-Akdemir Zeynep H.;
Doheny Kimberly F.;
Davis Colleen P.;
Lek Monkol;
Wellington Christopher;
Jhangiani Shalini N.;
Gerstein Mark;
Gibbs Richard A.;
Lifton Richard P.;
MacArthur Daniel G.;
Matise Tara C.;
Lupski James R.;
Valle David;
Bamshad Michael J.;
Hamosh Ada;
Mane Shrikant;
Nickerson Deborah A.;
Rehm Heidi L.;
O’Donnell-Luria Anne;
Centers for Mendelian Genomics Consortium;
;
(,
v.,
2021,
)
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237
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The landscape of regional missense mutational intolerance quantified from 125,748 exomes
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Chao Katherine R;
Wang Lily;
Panchal Ruchit;
Liao Calwing;
Abderrazzaq Haneen;
Ye Robert;
Schultz Patrick;
Compitello John;
Grant Riley H;
Kosmicki Jack A;
Weisburd Ben;
Phu William;
Wilson Michael W;
Laricchia Kristen M;
Goodrich Julia K;
Goldstein Daniel;
Goldstein Jacqueline I;
Vittal Christopher;
Poterba Timothy;
Baxter Samantha;
Watts Nicholas A;
Solomonson Matthew;
Tiao Grace;
Rehm Heidi L;
Neale Benjamin M;
Talkowski Michael E;
MacArthur Daniel G;
O'
Donnell-Luria Anne;
Karczewski Konrad J;
Radivojac Predrag;
;
(,
v.,
2024,
)
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238
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Higher concentrations of vitamin D in Canadian children with juvenile idiopathic arthritis compared to healthy controls are associated with more frequent use of vitamin D supplements and season of birth
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Finch, Sarah L.;
Rosenberg, Alan M.;
Kusalik, Anthony J.;
Maleki, Farhad;
Rezaei, Elham;
Baxter-Jones, Adam;
Benseler, Susanne;
Boire, Gilles;
Cabral, David;
Campillo, Sarah;
Ché
deville, Gaë
lle;
Chetaille, Anne-Laure;
Dancey, Paul;
Duffy, Ciaran;
Duffy, Karen Watanabe;
Guzman, Jaime;
Houghton, Kristin;
Huber, Adam M.;
Jurencak, Roman;
Lang, Bianca;
Laxer, Ron M.;
Morishita, Kimberly;
Oen, Kiem G.;
Petty, Ross E.;
Ramsey, Suzanne E.;
Roth, Johannes;
Schneider, Rayfel;
Scuccimarri, Rosie;
Stringer, Elizabeth;
Tse, Shirley M.L.;
Tucker, Lori B.;
Turvey, Stuart E.;
Szafron, Michael;
Whiting, Susan;
Yeung, Rae SM;
Vatanparast, Hassan;
University of Saskatchewan;
University of Saskatchewan;
University of Saskatchewan;
University of Saskatchewan;
University of Saskatchewan;
University of Saskatchewan;
Alberta Children's Hospital, Cumming School of Medicine, University of Calgary;
University of Sherbrooke;
BC Children's Hospital and The University of British Columbia;
McGill University Health Center;
McGill University Health Center;
le Centre Hospitalier Universitaire de Quebec;
Janeway Children's Health and Rehabilitation Centre;
Children's Hospital of Eastern Ontario;
Children's Hospital of Eastern Ontario;
BC Children';
(Nutrition research,
v.92,
2021,
pp.139-149)
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239
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Insights into genetics, human biology and disease gleaned from family based genomic studies
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Posey, Jennifer E.;
O’Donnell-Luria, Anne H.;
Chong, Jessica X.;
Harel, Tamar;
Jhangiani, Shalini N.;
Coban Akdemir, Zeynep H.;
Buyske, Steven;
Pehlivan, Davut;
Carvalho, Claudia M.B.;
Baxter, Samantha;
Sobreira, Nara;
Liu, Pengfei;
Wu, Nan;
Rosenfeld, Jill A.;
Kumar, Sushant;
Avramopoulos, Dimitri;
White, Janson J.;
Doheny, Kimberly F.;
Witmer, P. Dane;
Boehm, Corinne;
Sutton, V. Reid;
Muzny, Donna M.;
Boerwinkle, Eric;
Gü
nel, Murat;
Nickerson, Deborah A.;
Mane, Shrikant;
MacArthur, Daniel G.;
Gibbs, Richard A.;
Hamosh, Ada;
Lifton, Richard P.;
Matise, Tara C.;
Rehm, Heidi L.;
Gerstein, Mark;
Bamshad, Michael J.;
Valle, David;
Lupski, James R.;
;
(Genetics in medicine : official journal of the American College of Medical Genetics,
v.21,
2019,
pp.798-812)
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240
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Phase II Trial of Dabrafenib Plus Trametinib in Relapsed/Refractory <i>BRAF</i> V600-Mutant Pediatric High-Grade Glioma
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Hargrave, Darren R.;
Terashima, Keita;
Hara, Junichi;
Kordes, Uwe R.;
Upadhyaya, Santhosh A.;
Sahm, Felix;
Bouffet, Eric;
Packer, Roger J.;
Witt, Olaf;
Sandalic, Larissa;
Kieloch, Agnieszka;
Russo, Mark;
Cohen, Kenneth J.;
Diez, Blanca;
Cappellano, Andrea;
Epelman, Sidnei;
Mancano, Bruna;
Nysom, Karsten;
Aerts, Isabelle;
Bertozzi, Anne-Isabelle;
Witt, Olaf;
Kramm, Christof;
Fleischhack, Gudrun;
Kordes, Uwe;
Hernaiz-Driever, Pablo;
Massimino, Maura;
Garre, Maria Luisa;
Locatelli, Franco;
Terashima, Keita;
Okada, Keiko;
Koga, Yuki;
Van der Lugt, Jasper;
Maschan, Alexey;
Lassaletta, Alvaro;
Holm, Stefan;
Hargrave, Darren;
Howell, Lisa;
Upadhyaya, Santhosh;
Gauvain, Karen;
Cohen, Kenneth;
Baxter, Patricia;
UCL Great Ormond Street Institute of Child Health, London, United Kingdom;
National Center for Child Health and Development, Tokyo, Japan;
Osaka City General Hospital, Osaka, Japan;
University Medical Center Eppendorf, Hamburg, Germany;
Department of Oncology, St Jude Children's Research Hospital, Memphis, TN;
Department of Neuropathology, University Hospital Heidelberg, Heidelberg, Germany;
The Hospital for Sick Children, University of Toronto, Toronto, ON, Canada;
Children's National Medical Center, Washington, DC;
Hopp Children's Cancer Center (KiTZ), German Cancer Research Center (DKFZ), Heidelberg University Hospital, Heidelberg, Germany;
Johnson & Johnson, Basel, Switzerland;
Novartis Pharma AG, Basel, Switzerland;
Novartis Pharmaceuticals Corporation, East Hanover, NJ;
The Sidney Kimmel Comprehensive Cancer Center at Johns Hopkins, Baltimore, MD;
(Journal of clinical oncology : official journal of the American Society of Clinical Oncology,
v.41,
2023,
pp.5174-5183)