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251
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Beyond the exome: What’s next in diagnostic testing for Mendelian conditions
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Wojcik, Monica H.;
Reuter, Chloe M.;
Marwaha, Shruti;
Mahmoud, Medhat;
Duyzend, Michael H.;
Barseghyan, Hayk;
Yuan, Bo;
Boone, Philip M.;
Groopman, Emily E.;
Dé
lot, Emmanuè
le C.;
Jain, Deepti;
Sanchis-Juan, Alba;
Starita, Lea M.;
Talkowski, Michael;
Montgomery, Stephen B.;
Bamshad, Michael J.;
Chong, Jessica X.;
Wheeler, Matthew T.;
Berger, Seth I.;
O'Donnell-Luria, Anne;
Sedlazeck, Fritz J.;
Miller, Danny E.;
Abouhala, Siwaar;
Albert, Jessica;
Almalvez, Miguel;
Alvarez, Raquel;
Amin, Mutaz;
Anderson, Peter;
Aradhya, Swaroop;
Ashley, Euan;
Assimes, Themistocles;
Auriga, Light;
Austin-Tse, Christina;
Bamshad, Mike;
Barseghyan, Hayk;
Baxter, Samantha;
Behera, Sairam;
Beheshti, Shaghayegh;
Bejerano, Gill;
Berger, Seth;
Bernstein, Jon;
Best, Sabrina;
Blankenmeister, Benjamin;
Blue, Elizabeth;
Boerwinkle, Eric;
Bonkowski, Emily;
Bonner, Devon;
Boone, Philip;
Bornhorst, Miriam;
Bozkurt-Yozgatli, Tugce;
Brand, Harrison;
Buckingh;
;
(American journal of human genetics,
v.110,
2023,
pp.1229-1248)
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252
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Early Appearance of Thyroid Autoimmunity in Children Followed From Birth for Type 1 Diabetes Risk
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Jonsdottir, Berglind;
Clasen, Joanna L;
Vehik, Kendra;
Lernmark, Å
ke;
Lundgren, Markus;
Bonifacio, Ezio;
Schatz, Desmond;
Ziegler, Anette-Gabriele;
Hagopian, William;
Rewers, Marian;
McIndoe, Richard;
Toppari, Jorma;
Krischer, Jeffrey;
Akolkar, Beena;
Steck, Andrea;
Veijola, Riitta;
Haller, Michael J;
Elding Larsson, Helena;
Rewers, Marian;
Bautista, Kimberly;
Baxter, Judith;
Felipe-Morales, Daniel;
Frohnert, Brigitte I;
Stahl, Marisa;
Garcia, Isabel Flores;
Gesualdo, Patricia;
Hays, Sierra;
Hoffman, Michelle;
Johnson, Randi;
Karban, Rachel;
Liu, Edwin;
Loaiza, Leila;
Norris, Jill;
O’Donnell, Holly;
Thorndahl, Loana;
Steck, Andrea;
Waugh, Kathleen;
Toppari, Jorma;
Simell, Olli G;
Adamsson, Annika;
Ahonen, Suvi;
Å
kerlund, Mari;
Anttila, Sirpa;
Hakola, Leena;
Hekkala, Anne;
Honkanen, Tiia;
Hurskainen, Teija;
Hyö
ty, Heikki;
Ilonen, Jorma;
Itoshima, Saori;
Jokipolvi, Minna;
Jokipuu, Sanna;
Karjalainen, Taru;
Karlsson,;
Department of Pediatrics, The Children's Hospital Iceland , 101 Reykjavik ,;
Health Informatics Institute, Morsani College of Medicine, University of South Florida , Tampa, FL 33612 ,;
Health Informatics Institute, Morsani College of Medicine, University of South Florida , Tampa, FL 33612 ,;
Department of Clinical Science Malmö
, Lund University , 20502 Malmö
,;
Department of Clinical Science Malmö
, Lund University , 20502 Malmö
,;
Center for Regenerative Therapies Dresden, Faculty of Medicine, Technische Universitä
t Dresden , 01307 Dresden ,;
Department of Pediatrics, University of Florida , Gainesville, FL 32610 ,;
German Center for Environmental Health, Institute of Diabetes Research, Helmholtz Munich , 80939 Munich ,;
Pacific Northwest Research Institute , Seattle, WA 98122 ,;
Barbara Davis Center for Childhood Diabetes, University of Colorado , Aurora, CO 80045 ,;
Center for Biotechnology and Genomic Medicine, Medical College of Georgia, Augusta U;
(The Journal of clinical endocrinology & metabolism,
v.110,
2025,
pp.498-510)
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253
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Establishment of CORONET, COVID-19 Risk in Oncology Evaluation Tool, to Identify Patients With Cancer at Low Versus High Risk of Severe Complications of COVID-19 Disease On Presentation to Hospital
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Lee, Rebecca J.;
Wysocki, Oskar;
Zhou, Cong;
Shotton, Rohan;
Tivey, Ann;
Lever, Louise;
Woodcock, Joshua;
Albiges, Laurence;
Angelakas, Angelos;
Arnold, Dirk;
Aung, Theingi;
Banfill, Kathryn;
Baxter, Mark;
Barlesi, Fabrice;
Bayle, Arnaud;
Besse, Benjamin;
Bhogal, Talvinder;
Boyce, Hayley;
Britton, Fiona;
Calles, Antonio;
Castelo-Branco, Luis;
Copson, Ellen;
Croitoru, Adina E.;
Dani, Sourbha S.;
Dickens, Elena;
Eastlake, Leonie;
Fitzpatrick, Paul;
Foulon, Stephanie;
Frederiksen, Henrik;
Frost, Hannah;
Ganatra, Sarju;
Gennatas, Spyridon;
Glenthøj, Andreas;
Gomes, Fabio;
Graham, Donna M.;
Hague, Christina;
Harrington, Kevin;
Harrison, Michelle;
Horsley, Laura;
Hoskins, Richard;
Huddar, Prerana;
Hudson, Zoe;
Jakobsen, Lasse H.;
Joharatnam-Hogan, Nalinie;
Khan, Sam;
Khan, Umair T.;
Khan, Khurum;
Massard, Christophe;
Maynard, Alec;
McKenzie, Hayley;
Michielin, Olivier;
Mosenthal, Anne C.;
Obispo, Berta;
Patel, Rushin;
Pentheroudakis, Ge;
The Christie NHS Foundation Trust, Manchester, United Kingdom;
The University of Manchester, Manchester, United Kingdom;
Cancer Research UK Manchester Institute Cancer Biomarker Center, The University of Manchester, Alderley Park, United Kingdom;
The Christie NHS Foundation Trust, Manchester, United Kingdom;
The Christie NHS Foundation Trust, Manchester, United Kingdom;
The University of Manchester, Manchester, United Kingdom;
The University of Manchester, Manchester, United Kingdom;
Department of Medical Oncology, Gustave Roussy, Villejuif, France;
The Christie NHS Foundation Trust, Manchester, United Kingdom;
Department of Oncology, Haematology and Palliative Care, Asklepios Klinik Altona, Hamburg, G;
(Jco clinical cancer informatics,
v.6,
2022,
pp.e2100177)
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254
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Sustained human outbreak of a new MPXV clade I lineage in eastern Democratic Republic of the Congo
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Vakaniaki, Emmanuel Hasivirwe;
Kacita, Cris;
Kinganda-Lusamaki, Eddy;
O’Toole, Á
ine;
Wawina-Bokalanga, Tony;
Mukadi-Bamuleka, Daniel;
Amuri-Aziza, Adrienne;
Malyamungu-Bubala, Nadine;
Mweshi-Kumbana, Franklin;
Mutimbwa-Mambo, Lé
andre;
Belesi-Siangoli, Freddy;
Mujula, Yves;
Parker, Edyth;
Muswamba-Kayembe, Pauline-Chloé
;
Nundu, Sabin S.;
Lushima, Robert S.;
Makangara-Cigolo, Jean-Claude;
Mulopo-Mukanya, Noella;
Pukuta-Simbu, Elisabeth;
Akil-Bandali, Prince;
Kavunga, Hugo;
Abdramane, Ombotimbe;
Brosius, Isabel;
Bangwen, Eugene;
Vercauteren, Koen;
Sam-Agudu, Nadia A.;
Mills, Edward J.;
Tshiani-Mbaya, Olivier;
Hoff, Nicole A.;
Rimoin, Anne W.;
Hensley, Lisa E.;
Kindrachuk, Jason;
Baxter, Cheryl;
de Oliveira, Tulio;
Ayouba, Ahidjo;
Peeters, Martine;
Delaporte, Eric;
Ahuka-Mundeke, Steve;
Mohr, Emma L.;
Sullivan, Nancy J.;
Muyembe-Tamfum, Jean-Jacques;
Nachega, Jean B.;
Rambaut, Andrew;
Liesenborghs, Laurens;
Mbala-Kingebeni,;
;
(Nature medicine,
v.30,
2024,
pp.2791-2795)
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255
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Risk of celiac disease autoimmunity is modified by interactions between CD247 and environmental exposures
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Euré
n, Anna;
Lynch, Kristian;
Lindfors, Katri;
Parikh, Hemang;
Koletzko, Sibylle;
Liu, Edwin;
Akolkar, Beena;
Hagopian, William;
Krischer, Jeffrey;
Rewers, Marian;
Toppari, Jorma;
Ziegler, Anette;
Agardh, Daniel;
Kurppa, Kalle;
Rewers, Marian;
Barbour, Aaron;
Bautista, Kimberly;
Baxter, Judith;
Felipe-Morales, Daniel;
Frohnert, Brigitte I.;
Stahl, Marisa;
Gesualdo, Patricia;
Hoffman, Michelle;
Karban, Rachel;
Liu, Edwin;
Munoz, Alondra;
Norris, Jill;
O’Donnell, Holly;
Peacock, Stesha;
Shorrosh, Hanan;
Steck, Andrea;
Stern, Megan;
Waugh, Kathleen;
Toppari, Jorma;
Simell, Olli G.;
Adamsson, Annika;
Ahonen, Suvi;
Å
kerlund, Mari;
Anttila, Sirpa;
Hakola, Leena;
Hekkala, Anne;
Honkanen, Tiia;
Hyö
ty, Heikki;
Ilonen, Jorma;
Jokipuu, Sanna;
Karjalainen, Taru;
Karlsson, Leena;
Kero, Jukka;
Koskenniemi, Jaakko J.;
Kä
hö
nen, Miia;
Knip, Mikael;
Koivikko, Minna-Liisa;
Kokkonen, Katja;
Koskinen, Merja;
Koreasalo, Mirv;
;
(Scientific reports,
v.14,
2024,
pp.25463)
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256
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An International Comparison of Presentation, Outcomes and CORONET Predictive Score Performance in Patients with Cancer Presenting with COVID-19 across Different Pandemic Waves
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Wysocki, Oskar;
Zhou, Cong;
Rogado, Jacobo;
Huddar, Prerana;
Shotton, Rohan;
Tivey, Ann;
Albiges, Laurence;
Angelakas, Angelos;
Arnold, Dirk;
Aung, Theingi;
Banfill, Kathryn;
Baxter, Mark;
Barlesi, Fabrice;
Bayle, Arnaud;
Besse, Benjamin;
Bhogal, Talvinder;
Boyce, Hayley;
Britton, Fiona;
Calles, Antonio;
Castelo-Branco, Luis;
Copson, Ellen;
Croitoru, Adina;
Dani, Sourbha S.;
Dickens, Elena;
Eastlake, Leonie;
Fitzpatrick, Paul;
Foulon, Stephanie;
Frederiksen, Henrik;
Ganatra, Sarju;
Gennatas, Spyridon;
Glenthøj, Andreas;
Gomes, Fabio;
Graham, Donna M.;
Hague, Christina;
Harrington, Kevin;
Harrison, Michelle;
Horsley, Laura;
Hoskins, Richard;
Hudson, Zoe;
Jakobsen, Lasse H.;
Joharatnam-Hogan, Nalinie;
Khan, Sam;
Khan, Umair T.;
Khan, Khurum;
Lewis, Alexandra;
Massard, Christophe;
Maynard, Alec;
McKenzie, Hayley;
Michielin, Olivier;
Mosenthal, Anne C.;
Obispo, Berta;
Palmieri, Carlo;
Patel, Rushin;
Pentheroudakis, George;
Peters, Sol;
Department of Computer Science, University of Manchester, Oxford Road, Manchester M13 9PL, UK;
Digital Experimental Cancer Medicine Team, Cancer Biomarker Centre, Cancer Research UK Manchester Institute, University of Manchester, Alderley Park, Macclesfield SK10 4TG, UK;
Department of Medical Oncology, Hospital Universitario Infanta Leonor, Av. Gran Via del Este, 80, 28031 Madrid, Spain;
Department of Medical Oncology, The Christie NHS Foundation Trust, Wilmslow Road, Manchester M20 4BX, UK;
Department of Medical Oncology, The Christie NHS Foundation Trust, Wilmslow Road, Manchester M20 4BX, UK;
Department of Medical Oncology, The Christie NHS Foundation Trust, Wilmslow Road, Manchester M20 4BX, UK;
Department of Medical Oncology, Gustave Roussy, 94805 Villejuif, France(L.A.);
Department of Medical Oncology, The Christie NHS Foundation Trust, Wilmslow Road, Manchester M20 4BX, UK;
Department of Oncology, Haematology and Palliative Care, Asklepios Klinik Altona, Paul-Ehrlich-Str;
(Cancers,
v.14,
2022,
pp.3931)
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257
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The Impact of Preoperative Intra-articular Injections on Postoperative Outcomes in Hip Arthroscopy
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Rana, Parimal;
Brennan, Jane;
Johnson, Andrea;
Baxter, Samantha N.;
Turcotte, Justin J;
Petre, Benjamin M;
Department of Orthopedics, Luminis Health Anne Arundel Medical Center, Annapolis, MD, USA;
Department of Orthopedics, Luminis Health Anne Arundel Medical Center, Annapolis, MD, USA;
Department of Orthopedics, Luminis Health Anne Arundel Medical Center, Annapolis, MD, USA;
Department of Orthopedics, Luminis Health Anne Arundel Medical Center, Annapolis, MD, USA;
Department of Orthopedics, Luminis Health Anne Arundel Medical Center, Annapolis, MD, USA;
Department of Orthopedics, Luminis Health Anne Arundel Medical Center, Annapolis, MD, USA;
(Journal of arthroscopy and joint surgery,
v.11,
2024,
pp.204-210)
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258
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Rising Hemoglobin A1c in the Nondiabetic Range Predicts Progression of Type 1 Diabetes As Well As Oral Glucose Tolerance Tests
-
Vehik, Kendra;
Boulware, David;
Killian, Michael;
Rewers, Marian;
McIndoe, Richard;
Toppari, Jorma;
Lernmark, Å
ke;
Akolkar, Beena;
Ziegler, Anette-G.;
Rodriguez, Henry;
Schatz, Desmond A.;
Krischer, Jeffrey P.;
Hagopian, William;
Rewers, Marian;
Barbour, Aaron;
Bautista, Kimberly;
Baxter, Judith;
Felipe-Morales, Daniel;
Frohnert, Brigitte I.;
Stahl, Marisa;
Gesualdo, Patricia;
Hoffman, Michelle;
Karban, Rachel;
Liu, Edwin;
Munoz, Alondra;
Norris, Jill;
O’Donnell, Holly;
Peacock, Stesha;
Shorrosh, Hanan;
Steck, Andrea;
Stern, Megan;
Waugh, Kathleen;
Toppari, Jorma;
Simell, Olli G.;
Adamsson, Annika;
Aaltonen, Sanna-Mari;
Ahonen, Suvi;
Å
kerlund, Mari;
Hakola, Leena;
Hekkala, Anne;
Holappa, Henna;
Hyö
ty, Heikki;
Ikonen, Anni;
Ilonen, Jorma;
Jokipuu, Sanna;
Karlsson, Leena;
Kero, Jukka;
Koskenniemi, Jaakko J.;
Kä
hö
nen, Miia;
Knip, Mikael;
Koivikko, Minna-Liisa;
Kokkonen, Katja;
Koskinen, Merja;
Koreasalo, Mir;
;
(Diabetes care,
v.45,
2022,
pp.2342-2349)
-
259
-
Intake of B vitamins and the risk of developing islet autoimmunity and type 1 diabetes in the TEDDY study
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Hakola, Leena;
Mramba, Lazarus K.;
Uusitalo, Ulla;
André
n Aronsson, Carin;
Hummel, Sandra;
Niinistö
, Sari;
Erlund, Iris;
Yang, Jimin;
Rewers, Marian J.;
Akolkar, Beena;
McIndoe, Richard A.;
Rich, Stephen S.;
Hagopian, William A.;
Ziegler, Anette;
Lernmark, Å
ke;
Toppari, Jorma;
Krischer, Jeffrey P.;
Norris, Jill M.;
Virtanen, Suvi M.;
Rewers, Marian;
Bautista, Kimberly;
Baxter, Judith;
Felipe-Morales, Daniel;
Frohnert, Brigitte I;
Stahl, Marisa;
Garcia, Isabel Flores;
Gesualdo, Patricia;
Hays, Sierra;
Hoffman, Michelle;
Johnson, Randi;
Karban, Rachel;
Liu, Edwin;
Loaiza, Leila;
Norris, Jill;
O’Donnell, Holly;
Thorndahl, Loana;
Steck, Andrea;
Waugh, Kathleen;
Simell, Olli G;
Adamsson, Annika;
Ahonen, Suvi;
Å
kerlund, Mari;
Anttila, Sirpa;
Hekkala, Anne;
Honkanen, Tiia;
Hurskainen, Teija;
Hyö
ty, Heikki;
Ilonen, Jorma;
Itoshima, Saori;
Jokipolvi, Minna;
Jokipuu, Sanna;
Karjalainen, Taru;
Karlsson, Leena;
Ker;
;
(European journal of nutrition,
v.63,
2024,
pp.1329-1338)
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260
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Mutations in genes encoding ribonuclease H2 subunits cause Aicardi-Goutières syndrome and mimic congenital viral brain infection
-
Crow, Yanick J;
Leitch, Andrea;
Hayward, Bruce E;
Garner, Anna;
Parmar, Rekha;
Griffith, Elen;
Ali, Manir;
Semple, Colin;
Aicardi, Jean;
Babul-Hirji, Riyana;
Baumann, Clarisse;
Baxter, Peter;
Bertini, Enrico;
Chandler, Kate E;
Chitayat, David;
Cau, Daniel;
Dé
ry, Catherine;
Fazzi, Elisa;
Goizet, Cyril;
King, Mary D;
Klepper, Joerg;
Lacombe, Didier;
Lanzi, Giovanni;
Lyall, Hermione;
Martí
nez-Frí
as, Marí
a Luisa;
Mathieu, Michè
le;
McKeown, Carole;
Monier, Anne;
Oade, Yvette;
Quarrell, Oliver W;
Rittey, Christopher D;
Rogers, R Curtis;
Sanchis, Amparo;
Stephenson, John B P;
Tacke, Uta;
Till, Marianne;
Tolmie, John L;
Tomlin, Pam;
Voit, Thomas;
Weschke, Bernhard;
Woods, C Geoffrey;
Lebon, Pierre;
Bonthron, David T;
Ponting, Chris P;
Jackson, Andrew P;
[1] Leeds Institute of Molecular Medicine, University of Leeds, St. James's University Hospital, Leeds, LS9 7TF, UK. [2] Department of Paediatrics, St. Luke's Hospital, Little Horton Lane, Bradford BD5 0NA, UK.;
UK Medical Research Council (MRC) Human Genetics Unit, Western General Hospital, Crewe Road, Edinburgh, EH4 2XU, UK.;
Leeds Institute of Molecular Medicine, University of Leeds, St. James's University Hospital, Leeds, LS9 7TF, UK.;
UK Medical Research Council (MRC) Human Genetics Unit, Western General Hospital, Crewe Road, Edinburgh, EH4 2XU, UK.;
Leeds Institute of Molecular Medicine, University of Leeds, St. James's University Hospital, Leeds, LS9 7TF, UK.;
UK Medical Research Council (MRC) Human Genetics Unit, Western General Hospital, Crewe Road, Edinburgh, EH4 2XU, UK.;
Leeds Institute of Molecular Medicine, University of Leeds, St. James's University Hospital, Leeds, LS9 7TF, UK.;
UK Medical Research Council (MRC) Human Genetics Unit, Western General Hospital, Crew;
(Nature genetics,
v.38,
2006,
pp.910-916)