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1
A Canadian genome-wide association study and meta-analysis confirm HLA as a risk factor for peanut allergy independent of asthma
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A Canadian genome-wide association study and meta-analysis confirm HLA as a risk factor for peanut allergy independent of asthma

Asai, Yuka ; Eslami, Aida ; van Ginkel, C. Dorien ; Akhabir, Loubna ; Wan, Ming ; Yin, David ; Ellis, George ; Ben-Shoshan, Moshe ; Marenholz, Ingo ; Martino, David ; Ferreira, Manuel A. ; Allen, Katrina ; Mazer, Bruce ; de Groot, Hans ; de Jong, Nicolette W. ; Gerth van Wijk, Roy ; Dubois, Anthony E.J. ; Grosche, Sarah ; Ashley, Sarah ; Rüschendorf, Franz ; Kalb, Birgit ; Beyer, Kirsten ; Nöthen, Markus M. ; Lee, Young-Ae ; Chin, Rick ; Cheuk, Stephen ; Hoffman, Joshua ; Jorgensen, Eric ; Witte, John S. ; Melles, Ronald B. ; Hong, Xiumei ; Wang, Xiaobin ; Hui, Jennie ; Musk, Arthur W. (Bill) ; Hunter, Michael ; James, Alan L. ; Koppelman, Gerard H. ; Sandford, Andrew J. ; Clarke, Ann E. ; Daley, Denise

Journal of allergy and clinical immunology, 2018-04, Vol.141 (4), p.1513-1516 [Periódico revisado por pares]

United States: Elsevier Inc

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2
Prevalence and architecture of de novo mutations in developmental disorders
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Prevalence and architecture of de novo mutations in developmental disorders

McRae, Jeremy F ; Clayton, Stephen ; Mason, Laura E ; Tivey, Adrian R ; Ahmed, Munaza ; Awada, Jana ; Balasubramanian, Meena ; Banka, Siddharth ; Bennett, Chris ; Bernhard, Birgitta ; Bevan, A. Paul ; Blair, Edward ; Blyth, Moira ; Burn, John ; Castle, Bruce ; Clasper, Susan ; Collins, Amanda ; Collinson, Morag N ; Dabir, Tabib ; Davidson, Rosemarie ; Davies, Sally ; Dean, John ; Donnai, Dian ; Ellard, Sian ; Ellis, Ian ; Everest, Sarah ; Foulds, Nicola ; Fryer, Alan ; Gaunt, Lorraine ; Goudie, David ; Gray, Emma ; Greene, Philip ; Gribble, Susan ; Henderson, Alex ; Hildyard, Lucy ; Holden, Simon ; Holder, Muriel ; Ingram, Stuart ; Jackson, Andrew ; Kaemba, Beckie ; Kazembe, Sandra ; Kinning, Esther ; Kraus, Alison ; Kumar, V. K. Ajith ; Lachlan, Katherine ; Lam, Wayne ; Lim, Derek ; Longman, Cheryl ; Lynch, Sally A ; Maher, Eddy ; Maye, Una ; McKay, Kirsten ; McWilliam, Catherine ; Metcalfe, Kay ; Morgan, Sian ; Murday, Victoria ; Murphy, Helen ; Nemeth, Andrea ; Nevitt, Louise ; Newbury-Ecob, Ruth ; Park, Soo-Mi ; Paterson, Joan ; Payne, Stewart ; Perrett, Daniel ; Pratt, Norman ; Quarrell, Oliver ; Randall, Josh ; Rankin, Julia ; Raymond, Lucy ; Robert, Leema ; Roberts, Paul ; Saggar, Anand ; Samant, Shalaka ; Sampson, Julian ; Sandford, Richard ; Selby, Ann ; Sequeira, Cheryl ; Shearing, Emma ; Smith, Audrey ; Smith, Kath ; Splitt, Miranda ; Suri, Mohnish ; Sutton, Vivienne ; Tatton-Brown, Kate ; Temple, I. Karen ; Turner, Claire ; Varghese, Vinod ; Vasudevan, Pradeep ; Vogt, Julie ; Wakeling, Emma ; Wilcox, Sarah ; Williams, Denise ; Williams, Nicola ; Wilson, Louise ; Wright, Michael ; Yates, Laura ; Yau, Michael ; Wright, Caroline F ; FitzPatrick, David R ; Barrett, Jeffrey C

Nature (London), 2017-02, Vol.542 (7642), p.433-438 [Periódico revisado por pares]

England: Nature Publishing Group

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3
Asthma and genes encoding components of the vitamin D pathway
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Asthma and genes encoding components of the vitamin D pathway

Bossé, Yohan ; Lemire, Mathieu ; Poon, Audrey H ; Daley, Denise ; He, Jian-Qing ; Sandford, Andrew ; White, John H ; James, Alan L ; Musk, Arthur William ; Palmer, Lyle J ; Raby, Benjamin A ; Weiss, Scott T ; Kozyrskyj, Anita L ; Becker, Allan ; Hudson, Thomas J ; Laprise, Catherine

Respiratory research, 2009-10, Vol.10 (1), p.98-98, Article 98 [Periódico revisado por pares]

England: BioMed Central Ltd

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4
Effects of rare kidney diseases on kidney failure: a longitudinal analysis of the UK National Registry of Rare Kidney Diseases (RaDaR) cohort
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Effects of rare kidney diseases on kidney failure: a longitudinal analysis of the UK National Registry of Rare Kidney Diseases (RaDaR) cohort

Braddon, Fiona ; Downward, Lewis ; Coward, Richard J ; Griffin, Sian ; Hall, Matt ; Karet Frankl, Fiona ; Kerecuk, Larissa ; Pinney, Jenny ; Sayer, John A ; Waters, Aoife ; Bockenhauer, Detlef ; Gale, Daniel P ; Agbonmwandolor, Joy ; Ahmad, Zubaidah ; Asgari, Ellie ; Ayers, Amanda ; Barratt, Alison ; Barratt, Jonathan ; Benyon, Sarah ; Bhandari, Sunil ; Bond, Sally ; Bramham, Kate ; Branson, Angela ; Byrne, Conor ; Campbell, Gary ; Capell, Alys ; Cathcart, Tracy ; Cheung, Chee Kay ; Chick, Katy-Jane ; Chrysochou, Tina ; Clayton, Christopher ; Cook, Wendy ; Coward, Richard J ; Drayson, Mark ; Evans, Dawn ; Flinter, Frances ; Gale, Daniel P ; Gallagher, Hugh ; Game, David ; Gavrila, Madita ; Gilchrist, Mark ; Goldsmith, Christopher ; Gray, Barry ; Griffith, Megan ; Gupta, Sanjana ; Hillman, Kate ; Htet, Zay ; Huish, Sharon ; Hull, Richard ; Hunter, Karl ; Inston, Nick ; Jayne, David ; Jenkins, Alison ; Kamesh, Lavanya ; Kanigicherla, Durga ; Karet Frankl, Fiona ; Kaur, Amrit ; King, Garry ; King, Grant ; Kislowska, Ewa ; Kokocinska, Maria ; Lawless, Laura ; Mabillard, Holly ; Mahdi, Khalid ; Masoud, Sherry ; Mayfair, Jake ; Meyrick, Simon ; Moochhala, Shabbir ; Morgan, Ann ; Muhammad, Fawad ; Murray, Shona ; Osmaston, Kate ; Padmanabhan, Neal ; Pattison, James ; Persu, Alexandre ; Petchey, William G ; Post, Frank ; Sandford, Richard ; Sarween, Nadia ; Sayer, John A ; Sebire, Neil ; Selvaskandan, Haresh ; Sharma, Asheesh ; Sheerin, Neil ; Shetty, Harish ; Simms, Roslyn ; Smith, Kerry ; Swift, Pauline ; Szklarzewicz, Justyna ; Tam, Fred ; Tan, Kay ; Tischkowitz, Marc ; Tse, Yincent ; Tyerman, Kay ; Usher, Miranda ; Wechalekar, Ashutosh ; Welsh, Gavin I ; West, Nicol ; Williams, Angharad ; Wilson, Patricia D

The Lancet (British edition), 2024-03, Vol.403 (10433), p.1279-1289 [Periódico revisado por pares]

England: Elsevier Ltd

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5
Cystic fibrosis modifier genes related to Pseudomonas aeruginosa infection
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Cystic fibrosis modifier genes related to Pseudomonas aeruginosa infection

Park, J E ; Yung, R ; Stefanowicz, D ; Shumansky, K ; Akhabir, L ; Durie, P R ; Corey, M ; Zielenski, J ; Dorfman, R ; Daley, D ; Sandford, A J

Genes and immunity, 2011-07, Vol.12 (5), p.370-377 [Periódico revisado por pares]

England: Nature Publishing Group

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6
Leukoencephalopathy with calcifications and cysts: Genetic and phenotypic spectrum
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Leukoencephalopathy with calcifications and cysts: Genetic and phenotypic spectrum

Crow, Yanick J ; Marshall, Heather ; Rice, Gillian I ; Seabra, Luis ; Jenkinson, Emma M ; Baranano, Kristin ; Battini, Roberta ; Berger, Andrea ; Blair, Edward ; Blauwblomme, Thomas ; Bolduc, Francois ; Boddaert, Natalie ; Buckard, Johannes ; Burnett, Heather ; Calvert, Sophie ; Caumes, Roseline ; Ng, Andy Cheuk‐Him ; Chiang, Diana ; Clifford, David B ; Cordelli, Duccio M ; Burca, Anna ; Demic, Natasha ; Desguerre, Isabelle ; De Waele, Liesbeth ; Di Fonzo, Alessio ; Dunham, S. Richard ; Dyack, Sarah ; Elmslie, Frances ; Ferrand, Mickaël ; Fisher, Gemma ; Karimiani, Ehsan Ghayoor ; Ghoumid, Jamal ; Gibbon, Frances ; Goel, Himanshu ; Hilmarsen, Hilde T ; Hughes, Imelda ; Jacob, Anu ; Jones, Elizabeth A ; Kumar, Ram ; Leventer, Richard J ; MacDonald, Shelley ; Maroofian, Reza ; Mehta, Sarju G ; Metz, Imke ; Monfrini, Edoardo ; Neumann, Daniela ; Noetzel, Michael ; O'Driscoll, Mary ; Õunap, Katrin ; Panzer, Axel ; Parikh, Sumit ; Prabhakar, Prab ; Ramond, Francis ; Sandford, Richard ; Saneto, Russell ; Soh, Calvin ; Stutterd, Chloe A ; Subramanian, Gopinath M ; Talbot, Kevin ; Thomas, Rhys H ; Toro, Camilo ; Touraine, Renaud ; Wakeling, Emma ; Wassmer, Evangeline ; Whitney, Andrea ; Livingston, John H ; O'Keefe, Raymond T ; Badrock, Andrew P

American journal of medical genetics. Part A, 2021-01, Vol.185 (1), p.15-25 [Periódico revisado por pares]

Hoboken, USA: John Wiley & Sons, Inc

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7
Heterozygous Variants in KMT2E Cause a Spectrum of Neurodevelopmental Disorders and Epilepsy
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Heterozygous Variants in KMT2E Cause a Spectrum of Neurodevelopmental Disorders and Epilepsy

Abou Jamra, Rami ; Accogli, Andrea ; Amburgey, Kimberly ; Basinger, Alice A. ; Ceulemans, Sophia ; Charles, Perrine ; McRae, Jeremy F. ; Rajan, Diana ; Ambridge, Kirsty ; Jones, Philip ; Jones, Wendy D. ; Ahmed, Munaza ; Anjum, Uruj ; Armstrong, Ruth ; Barnicoat, Angela ; Bennett, Chris ; Blair, Edward ; Blyth, Moira ; Bourdon, Louise ; Brady, Angela ; Burn, John ; Canham, Natalie ; Cilliers, Deirdre ; Clayton-Smith, Jill ; Coates, Andrea ; Cooper, Nicola ; Dabir, Tabib ; Davies, Sally ; Dean, John ; Devlin, Gemma ; Donnai, Dian ; Donnelly, Carina ; Evans, Karenza ; Fendick, Tina ; Goodship, Judith ; Green, Andrew ; Harrison, Lucy ; Holden, Simon ; Jarvis, Joanna ; Johnson, Diana ; Jones, Elizabeth ; Kumar, V. K. Ajith ; Lachlan, Katherine ; Langman, Caroline ; Maye, Una ; McMullan, Dominic J. ; McWilliam, Catherine ; Metcalfe, Kay ; Norman, Andrew ; Ogilvie, Caroline ; Park, Soo-Mi ; Phipps, Julie ; Prescott, Katrina ; Procter, Annie ; Purnell, Hellen ; Ross, Alison ; Sampson, Julian ; Shannon, Nora ; Skitt, Zara ; Stewart, Fiona ; Stewart, Helen ; Swaminathan, Ganesh Jawahar ; Taylor, Cat ; Tein, Mark ; Treacy, Becky ; Vandersteen, Anthony ; Wallwark, Sarah ; Waters, Jonathon ; Weber, Astrid ; Whiteford, Margo ; Widaa, Sara ; Wilcox, Sarah ; Wilkinson, Emily ; Parker, Michael ; FitzPatrick, David R. ; Demurger, Florence ; Eiset, Saga Elise ; Ferrarini, Alessandra ; Haack, Tobias B. ; Hashim, Mona ; Jonasson, Amy R. ; Kok, Fernando ; Marcelis, Carlo L.M. ; McWalter, Kirsty ; Mercimek-Andrews, Saadet ; Person, Richard ; Ramelli, Gian Paolo ; Rauch, Anita ; Sanchez-Valle, Amarilis ; Sattar, Shifteh ; Saunders, Carol ; Steindl, Katharina ; Syrbe, Steffen ; Taylor, Jenny C. ; Trauner, Doris A. ; Vogel, Ida ; Widjaja, Elysa ; Zak, Jaroslav ; Banka, Siddharth ; Rodan, Lance H.

American journal of human genetics, 2019-06, Vol.104 (6), p.1210-1222 [Periódico revisado por pares]

United States: Elsevier Inc

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8
Targeted high throughput sequencing in hereditary ataxia and spastic paraplegia
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Targeted high throughput sequencing in hereditary ataxia and spastic paraplegia

Iqbal, Zafar ; Rydning, Siri L ; Wedding, Iselin M ; Koht, Jeanette ; Pihlstrøm, Lasse ; Rengmark, Aina H ; Henriksen, Sandra P ; Tallaksen, Chantal M E ; Toft, Mathias Brusgaard, Klaus

PloS one, 2017-03, Vol.12 (3), p.e0174667-e0174667 [Periódico revisado por pares]

United States: Public Library of Science

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9
Management of repository corticotropin injection therapy for non‐infectious uveitis: a Delphi study
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Management of repository corticotropin injection therapy for non‐infectious uveitis: a Delphi study

Nguyen, Quan Dong ; Anesi, Stephen D. ; Chexal, Saradha ; Chu, David S. ; Dayani, Pouya N. ; Leng, Theodore ; Meleth, Annal D. ; Sallam, Ahmed A. ; Sheppard, John D. ; Silverstein, Steven M. ; Toyos, Melissa ; Wang, Robert C. ; Foster, Charles Stephen

Acta ophthalmologica (Oxford, England), 2021-09, Vol.99 (6), p.669-678 [Periódico revisado por pares]

England: Wiley Subscription Services, Inc

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10
Cranial nerve injuries in patients with moderate to severe head trauma – Analysis of 91,196 patients from the TraumaRegister DGU® between 2008 and 2017
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Cranial nerve injuries in patients with moderate to severe head trauma – Analysis of 91,196 patients from the TraumaRegister DGU® between 2008 and 2017

Huckhagel, T. ; Riedel, C. ; Rohde, V. ; Lefering, R.

Clinical neurology and neurosurgery, 2022-01, Vol.212, p.107089-107089, Article 107089 [Periódico revisado por pares]

Netherlands: Elsevier B.V

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