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Estimating telomere length from whole genome sequence data
Estimating telomere length from whole genome sequence data
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Estimating telomere length from whole genome sequence data

Ding, Zhihao ; Mangino, Massimo ; Aviv, Abraham ; Spector, Tim ; Durbin, Richard

Nucleic acids research, 2014-05, Vol.42 (9), p.e75-e75 [Periódico revisado por pares]

England: Oxford University Press

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2
Health and population effects of rare gene knockouts in adult humans with related parents
Health and population effects of rare gene knockouts in adult humans with related parents
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Health and population effects of rare gene knockouts in adult humans with related parents

Narasimhan, Vagheesh M. ; Hunt, Karen A. ; Mason, Dan ; Baker, Christopher L. ; Karczewski, Konrad J. ; Barnes, Michael R. ; Barnett, Anthony H. ; Bates, Chris ; Bellary, Srikanth ; Bockett, Nicholas A. ; Giorda, Kristina ; Griffiths, Christopher J. ; Hemingway, Harry ; Jia, Zhilong ; Kelly, M. Ann ; Khawaja, Hajrah A. ; Lek, Monkol ; McCarthy, Shane ; McEachan, Rosie ; O'Donnell-Luria, Anne ; Paigen, Kenneth ; Parisinos, Constantinos A. ; Sheridan, Eamonn ; Southgate, Laura ; Tee, Louise ; Thomas, Mark ; Xue, Yali ; Schnall-Levin, Michael ; Petkov, Petko M. ; Tyler-Smith, Chris ; Maher, Eamonn R. ; Trembath, Richard C. ; MacArthur, Daniel G. ; Wright, John ; Durbin, Richard ; van Heel, David A.

Science (American Association for the Advancement of Science), 2016-04, Vol.352 (6284), p.474-477 [Periódico revisado por pares]

United States: American Association for the Advancement of Science

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3
X-linked primary ciliary dyskinesia due to mutations in the cytoplasmic axonemal dynein assembly factor PIH1D3
X-linked primary ciliary dyskinesia due to mutations in the cytoplasmic axonemal dynein assembly factor PIH1D3
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X-linked primary ciliary dyskinesia due to mutations in the cytoplasmic axonemal dynein assembly factor PIH1D3

Olcese, Chiara ; Patel, Mitali P ; Shoemark, Amelia ; Kiviluoto, Santeri ; Legendre, Marie ; Williams, Hywel J ; Vaughan, Cara K ; Hayward, Jane ; Goldenberg, Alice ; Emes, Richard D ; Munye, Mustafa M ; Dyer, Laura ; Cahill, Thomas ; Bevillard, Jeremy ; Gehrig, Corinne ; Guipponi, Michel ; Chantot, Sandra ; Duquesnoy, Philippe ; Thomas, Lucie ; Jeanson, Ludovic ; Copin, Bruno ; Tamalet, Aline ; Thauvin-Robinet, Christel ; Papon, Jean-François ; Garin, Antoine ; Pin, Isabelle ; Vera, Gabriella ; Aurora, Paul ; Fassad, Mahmoud R ; Jenkins, Lucy ; Boustred, Christopher ; Cullup, Thomas ; Dixon, Mellisa ; Onoufriadis, Alexandros ; Bush, Andrew ; Chung, Eddie M K ; Antonarakis, Stylianos E ; Loebinger, Michael R ; Wilson, Robert ; Armengot, Miguel ; Escudier, Estelle ; Hogg, Claire ; Amselem, Serge ; Sun, Zhaoxia ; Bartoloni, Lucia ; Blouin, Jean-Louis ; Mitchison, Hannah M

Nature communications, 2017-02, Vol.8 (1), p.14279-15, Article 14279 [Periódico revisado por pares]

England: Nature Publishing Group

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4
Epigenome-wide scans identify differentially methylated regions for age and age-related phenotypes in a healthy ageing population
Epigenome-wide scans identify differentially methylated regions for age and age-related phenotypes in a healthy ageing population
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Epigenome-wide scans identify differentially methylated regions for age and age-related phenotypes in a healthy ageing population

Bell, Jordana T ; Tsai, Pei-Chien ; Yang, Tsun-Po ; Pidsley, Ruth ; Nisbet, James ; Glass, Daniel ; Mangino, Massimo ; Zhai, Guangju ; Zhang, Feng ; Valdes, Ana ; Shin, So-Youn ; Dempster, Emma L ; Murray, Robin M ; Grundberg, Elin ; Hedman, Asa K ; Nica, Alexandra ; Small, Kerrin S ; Dermitzakis, Emmanouil T ; McCarthy, Mark I ; Mill, Jonathan ; Spector, Tim D ; Deloukas, Panos Li, Jun

PLoS genetics, 2012-04, Vol.8 (4), p.e1002629-e1002629 [Periódico revisado por pares]

United States: Public Library of Science

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5
Recessive HYDIN Mutations Cause Primary Ciliary Dyskinesia without Randomization of Left-Right Body Asymmetry
Recessive HYDIN Mutations Cause Primary Ciliary Dyskinesia without Randomization of Left-Right Body Asymmetry
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Recessive HYDIN Mutations Cause Primary Ciliary Dyskinesia without Randomization of Left-Right Body Asymmetry

OLBRICH, Heike ; SCHMIDTS, Miriam ; HURLES, Matthew E ; CONSORTIUM, Ukk ; KÖHLER, Gabriele ; SCHROEDER, Josef ; NÜRNBERG, Gudrun ; NÜRNBERG, Peter ; CHUNG, Eddie M. K ; REINHARDT, Richard ; MARTHIN, June K ; NIELSEN, Kim G ; WERNER, Claudius ; MITCHISON, HannahM ; OMRAN, Heymut ; ONOUFRIADIS, Alexandros ; LOGES, Niki T ; RAIDT, Johanna ; FANNI BANKI, Nora ; SHOEMARK, Amelia ; BURGOYNE, Tom ; AL TURKI, Saeed

American journal of human genetics, 2012-10, Vol.91 (4), p.672-684 [Periódico revisado por pares]

Cambridge, MA: Cell Press

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6
Gene expression changes with age in skin, adipose tissue, blood and brain
Gene expression changes with age in skin, adipose tissue, blood and brain
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Gene expression changes with age in skin, adipose tissue, blood and brain

Glass, Daniel ; Viñuela, Ana ; Davies, Matthew N ; Ramasamy, Adaikalavan ; Parts, Leopold ; Knowles, David ; Brown, Andrew A ; Hedman, Asa K ; Small, Kerrin S ; Buil, Alfonso ; Grundberg, Elin ; Nica, Alexandra C ; Di Meglio, Paola ; Nestle, Frank O ; Ryten, Mina ; Durbin, Richard ; McCarthy, Mark I ; Deloukas, Panagiotis ; Dermitzakis, Emmanouil T ; Weale, Michael E ; Bataille, Veronique ; Spector, Tim D

Genome Biology, 2013-01, Vol.14 (7), p.R75-R75 [Periódico revisado por pares]

England: BioMed Central Ltd

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7
Immunofluorescence Analysis and Diagnosis of Primary Ciliary Dyskinesia with Radial Spoke Defects
Immunofluorescence Analysis and Diagnosis of Primary Ciliary Dyskinesia with Radial Spoke Defects
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Immunofluorescence Analysis and Diagnosis of Primary Ciliary Dyskinesia with Radial Spoke Defects

Frommer, Adrien ; Hjeij, Rim ; Loges, Niki T ; Edelbusch, Christine ; Jahnke, Charlotte ; Raidt, Johanna ; Werner, Claudius ; Wallmeier, Julia ; Große-Onnebrink, Jörg ; Olbrich, Heike ; Cindrić, Sandra ; Jaspers, Martine ; Boon, Mieke ; Memari, Yasin ; Durbin, Richard ; Kolb-Kokocinski, Anja ; Sauer, Sascha ; Marthin, June K ; Nielsen, Kim G ; Amirav, Israel ; Elias, Nael ; Kerem, Eitan ; Shoseyov, David ; Haeffner, Karsten ; Omran, Heymut

American journal of respiratory cell and molecular biology, 2015-10, Vol.53 (4), p.563-573 [Periódico revisado por pares]

United States: American Thoracic Society

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8
Population-scale proteome variation in human induced pluripotent stem cells
Population-scale proteome variation in human induced pluripotent stem cells
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Population-scale proteome variation in human induced pluripotent stem cells

Mirauta, Bogdan Andrei ; Seaton, Daniel D ; Bensaddek, Dalila ; Brenes, Alejandro ; Bonder, Marc Jan ; Kilpinen, Helena ; Stegle, Oliver ; Lamond, Angus I

eLife, 2020-08, Vol.9 [Periódico revisado por pares]

England: eLife Science Publications, Ltd

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9
Whole-exome sequencing of 228 patients with sporadic Parkinson's disease
Whole-exome sequencing of 228 patients with sporadic Parkinson's disease
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Whole-exome sequencing of 228 patients with sporadic Parkinson's disease

Sandor, Cynthia ; Honti, Frantisek ; Haerty, Wilfried ; Szewczyk-Krolikowski, Konrad ; Tomlinson, Paul ; Evetts, Sam ; Millin, Stephanie ; Keane, Thomas ; McCarthy, Shane A ; Durbin, Richard ; Talbot, Kevin ; Hu, Michele ; Webber, Caleb ; Ponting, Chris P ; Wade-Martins, Richard

Scientific reports, 2017-01, Vol.7 (1), p.41188-41188, Article 41188 [Periódico revisado por pares]

England: Nature Publishing Group

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10
Truncation of POC1A associated with short stature and extreme insulin resistance
Truncation of POC1A associated with short stature and extreme insulin resistance
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Truncation of POC1A associated with short stature and extreme insulin resistance

Chen, Jian-Hua ; Segni, Maria ; Payne, Felicity ; Huang-Doran, Isabel ; Sleigh, Alison ; Adams, Claire ; Savage, David B ; O'Rahilly, Stephen ; Semple, Robert K ; Barroso, Inês

Journal of molecular endocrinology, 2015-10, Vol.55 (2), p.147-158 [Periódico revisado por pares]

England: Bioscientifica Ltd

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