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Sequencing Alpha-1 MZ Individuals Shows Frequent Biallelic Mutations
Sequencing Alpha-1 MZ Individuals Shows Frequent Biallelic Mutations
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Sequencing Alpha-1 MZ Individuals Shows Frequent Biallelic Mutations

Foil, Kimberly E. ; Blanton, M. Gwen ; Sanders, Chris ; Kim, Joannah ; Al Ashry, Haitham S. ; Kumbhare, Suchit ; Strange, Charlie Sandford, Andrew ; Andrew Sandford

Pulmonary medicine, 2018-01, Vol.2018, p.2836389-6 [Periódico revisado por pares]

Egypt: Hindawi

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2
Prevalence and architecture of de novo mutations in developmental disorders
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
Analysis of data from the ERA-EDTA Registry indicates that conventional treatments for chronic kidney disease do not reduce the need for renal replacement therapy in autosomal dominant polycystic kidney disease
Analysis of data from the ERA-EDTA Registry indicates that conventional treatments for chronic kidney disease do not reduce the need for renal replacement therapy in autosomal dominant polycystic kidney disease
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Analysis of data from the ERA-EDTA Registry indicates that conventional treatments for chronic kidney disease do not reduce the need for renal replacement therapy in autosomal dominant polycystic kidney disease

Spithoven, Edwin M. ; Kramer, Anneke ; Meijer, Esther ; Orskov, Bjarne ; Wanner, Christoph ; Caskey, Fergus ; Collart, Frederic ; Finne, Patrik ; Fogarty, Damian G. ; Groothoff, Jaap W. ; Hoitsma, Andries ; Nogier, Marie-Béatrice ; Postorino, Maurizio ; Ravani, Pietro ; Zurriaga, Oscar ; Jager, Kitty J. ; Gansevoort, Ron T. ; on behalf of the ERA-EDTA Registry, the EuroCYST consortium and the WGIKD

Kidney international, 2014-12, Vol.86 (6), p.1244-1252 [Periódico revisado por pares]

United States: Elsevier Inc

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4
Heterozygous Variants in KMT2E Cause a Spectrum of Neurodevelopmental Disorders and Epilepsy
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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5
Effects of rare kidney diseases on kidney failure: a longitudinal analysis of the UK National Registry of Rare Kidney Diseases (RaDaR) cohort
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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6
Primary, Nonsyndromic Vesicoureteric Reflux and Nephropathy in Sibling Pairs: A United Kingdom Cohort for a DNA Bank
Primary, Nonsyndromic Vesicoureteric Reflux and Nephropathy in Sibling Pairs: A United Kingdom Cohort for a DNA Bank
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Primary, Nonsyndromic Vesicoureteric Reflux and Nephropathy in Sibling Pairs: A United Kingdom Cohort for a DNA Bank

Lambert, Heather J ; Stewart, Aisling ; Gullett, Ambrose M ; Cordell, Heather J ; Malcolm, Sue ; Feather, Sally A ; Goodship, Judith A ; Goodship, Timothy H J ; Woolf, Adrian S

Clinical journal of the American Society of Nephrology, 2011-04, Vol.6 (4), p.760-766 [Periódico revisado por pares]

United States: American Society of Nephrology

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7
Genetic Modifiers of Lung Disease in Cystic Fibrosis
Genetic Modifiers of Lung Disease in Cystic Fibrosis
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Genetic Modifiers of Lung Disease in Cystic Fibrosis

Drumm, Mitchell L ; Konstan, Michael W ; Schluchter, Mark D ; Handler, Allison ; Pace, Rhonda ; Zou, Fei ; Zariwala, Maimoona ; Fargo, David ; Xu, Airong ; Dunn, John M ; Darrah, Rebecca J ; Dorfman, Ruslan ; Sandford, Andrew J ; Corey, Mary ; Zielenski, Julian ; Durie, Peter ; Goddard, Katrina ; Yankaskas, James R ; Wright, Fred A ; Knowles, Michael R

The New England journal of medicine, 2005-10, Vol.353 (14), p.1443-1453 [Periódico revisado por pares]

Boston, MA: Massachusetts Medical Society

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8
The "Ick" Factor, Anticipated Regret, and Willingness to Become an Organ Donor
The "Ick" Factor, Anticipated Regret, and Willingness to Become an Organ Donor
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The "Ick" Factor, Anticipated Regret, and Willingness to Become an Organ Donor

O'Carroll, Ronan E ; Foster, Catherine ; McGeechan, Grant ; Sandford, Kayleigh ; Ferguson, Eamonn

Health psychology, 2011-03, Vol.30 (2), p.236-245 [Periódico revisado por pares]

Washington, DC: American Psychological Association

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9
A Canadian genome-wide association study and meta-analysis confirm HLA as a risk factor for peanut allergy independent of asthma
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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10
The inter‐relationship of symptom severity and quality of life in 2055 patients with primary biliary cholangitis
The inter‐relationship of symptom severity and quality of life in 2055 patients with primary biliary cholangitis
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The inter‐relationship of symptom severity and quality of life in 2055 patients with primary biliary cholangitis

Dyson, J. K ; Wilkinson, N. ; Jopson, L. ; Mells, G. ; Bathgate, A. ; Heneghan, M. A. ; Neuberger, J. ; Hirschfield, G. M. ; Ducker, S. J. ; Sandford, R. ; Alexander, G. ; Stocken, D. ; Jones, D. E. J.

Alimentary pharmacology & therapeutics, 2016-11, Vol.44 (10), p.1039-1050 [Periódico revisado por pares]

England: John Wiley and Sons Inc

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