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John A. Sayer

ResearcherPublications, citations & collaboration network

John A. Sayer is a researcher indexed in ScholarIQ from OpenAlex & ORCID. ScholarIQ records 1,201 works, 12,494 citations, an h-index of 57 and an i10-index of 193.

1,201
Works
12,494
Citations
57
h-index
193
i10-index

How has John A. Sayer's publication output changed over time?

ScholarIQpublication output · 2005–2021

Output grew0% over the shown period — from 1 works in 2005 to 1 in 2021.

1
2
1
1
1
1
2
1
1
200520062007201220142017201920202021

What are the most-cited papers on John A. Sayer?

ScholarIQmost cited works
Whole-genome sequencing of patients with rare diseases in a national health system
Ernest Turro, William J. Astle, Karyn Mégy, Stefan Gräf, Daniel Greene, Olga Shamardina, Hana Lango Allen, Alba Sanchis‐Juan, Mattia Frontini, Chantal Thys, Jonathan Stephens, Rutendo Mapeta, Oliver S. Burren, Kate Downes, Matthias Haimel, Salih Tuna, Sri V. V. Deevi, Timothy J. Aitman, David Bennett, Paul Calleja, Keren Carss, Mark J. Caulfield, Patrick F. Chinnery, Peter Dixon, Daniel P. Gale, Roger James, Ania Koziell, Michael A. Laffan, Adam P. Levine, Eamonn R. Maher, Hugh S. Markus, Joannella Morales, Nicholas W. Morrell, Andrew Mumford, Elizabeth Ormondroyd, Stuart Rankin, Augusto Rendon, Sylvia Richardson, Irene Roberts, Noémi Roy, Moin A. Saleem, Kenneth G. C. Smith, Hannah Stark, Rhea Tan, Andreas C. Themistocleous, Adrian J. Thrasher, Hugh Watkins, Andrew R. Webster, Martin R. Wilkins, Catherine Williamson, James Whitworth, Sean Humphray, David R. Bentley, NIHR BioResource for the 100,000 Genomes Project, Stephen Abbs, Lara Abulhoul, Julian Adlard, Munaza Ahmed, Timothy J. Aitman, Hana Alachkar, David Allsup, J. P. Almeida, Philip Ancliff, Richard Antrobus, Ruth Armstrong, Gavin Arno, Sofie Ashford, William J. Astle, Anthony Attwood, Paul Aurora, Christian Babbs, Chiara Bacchelli, Tamam Bakchoul, Siddharth Banka, Tadbir K. Bariana, Julian Barwell, Joana Batista, Helen Baxendale, Phil Beales, David Bennett, David R. Bentley, Agnieszka Bierżyńska, Tina Biss, Maria Bitner‐Glindzicz, Graeme C. Black, Marta Bleda, Iulia Blesneac, Detlef Böckenhauer, Harm Jan Bogaard, Christian Bourne, Sara Boyce, John R. Bradley, Eugene Bragin, Gerome Breen, Paul Brennan, Carole Brewer, Matthew A. Brown, Andrew C. Browning, Michael J. Browning, Rachel Buchan
Nature. 2020586 CitationsOPEN ACCESS
The centrosomal protein nephrocystin-6 is mutated in Joubert syndrome and activates transcription factor ATF4
John A. Sayer, Edgar A. Otto, John F. O’Toole, Gudrun Nürnberg, Michael A. Kennedy, Christian Becker, Hans Christian Hennies, Juliana Helou, Massimo Attanasio, Blake V. Fausett, Boris Utsch, Hemant Khanna, Yan Liu, Iain A. Drummond, I. Kawakami, Takehiro Kusakabe, Motoyuki Tsuda, Li Ma, Hwankyu Lee, Ronald G. Larson, Susan J. Allen, Christopher J. Wilkinson, Erich A. Nigg, Chengchao Shou, Concepción Lillo, David S. Williams, Bernd Höppe, Markus J. Kemper, Thomas J. Neuhaus, Melissa A. Parisi, Ian A. Glass, Marianne Petry, Andreas Kispert, Joachim Gloy, Athina Ganner, Gerd Walz, Xueliang Zhu, Daniel Goldman, Peter Nürnberg, Anand Swaroop, Michel R. Leroux, Friedhelm Hildebrandt
S137905309. 2006578 Citations
Nephrocystin-5, a ciliary IQ domain protein, is mutated in Senior-Loken syndrome and interacts with RPGR and calmodulin
Edgar A. Otto, Bart Loeys, Hemant Khanna, Jan Hellemans, Ralf Sudbrak, Shuling Fan, Ulla Muerb, John F. O’Toole, Juliana Helou, Massimo Attanasio, Boris Utsch, John A. Sayer, Concepción Lillo, David Jimeno, Paul Coucke, Anne De Paepe, Richard Reinhardt, Sven Klages, Motoyuki Tsuda, I. Kawakami, Takehiro Kusakabe, Heymut Omran, Anita Imm, Melissa Tippens, Pamela A. Raymond, JO Hill, Phil Beales, Shirley He, Andreas Kispert, Benjamin Margolis, David S. Williams, Anand Swaroop, Friedhelm Hildebrandt
S137905309. 2005408 Citations
Exome Capture Reveals ZNF423 and CEP164 Mutations, Linking Renal Ciliopathies to DNA Damage Response Signaling
Moumita Chaki, Rannar Airik, Amiya K. Ghosh, Rachel H. Giles, Rui Chen, Gisela G. Slaats, Hui Wang, Toby W. Hurd, Weibin Zhou, Andrew Cluckey, Heon Yung Gee, Gokul Ramaswami, Chen‐Jei Hong, Bruce A. Hamilton, Igor Červenka, Ranjani Sri Ganji, Vı́tězslav Bryja, Heleen H. Arts, Jeroen van Reeuwijk, Machteld M. Oud, Stef J.F. Letteboer, Ronald Roepman, Hervé Husson, Oxana Ibraghimov‐Beskrovnaya, Takayuki Yasunaga, Gerd Walz, Lorraine Eley, John A. Sayer, Bernhard Schermer, Max C. Liebau, Thomas Benzing, Stéphanie Le Corre, Iain A. Drummond, Sabine Janssen, Susan J. Allen, S. Natarajan, John F. O’Toole, Massimo Attanasio, Sophie Saunier, Corinne Antignac, Robert K. Koenekoop, Huanan Ren, Irma López, Ahmet Nayır, Corinne Stoetzel, Hélène Dollfus, Rustin Massoudi, Joseph G. Gleeson, Sharon Andreoli, D Doherty, Anna Lindstrad, Christelle Golzio, Nicholas Katsanis, Lars Pape, Emad B. Abboud, Ali A. Al‐Rajhi, Richard A. Lewis, Heymut Omran, Eva Y.-H.P. Lee, Shaohui Wang, JoAnn Sekiguchi, Rudel A. Saunders, Colin A. Johnson, Elizabeth Garner, Katja Vanselow, Jens Andersen, Joseph Shlomai, Gudrun Nürnberg, Peter Nürnberg, Shawn Levy, Agata Smogorzewska, Edgar A. Otto, Friedhelm Hildebrandt
S110447773. 2012398 CitationsOPEN ACCESS
In-frame deletion in a novel centrosomal/ciliary protein CEP290/NPHP6 perturbs its interaction with RPGR and results in early-onset retinal degeneration in the rd16 mouse
Bo Chang, Hemant Khanna, Norman L. Hawes, David Jimeno, Shirley He, Concepción Lillo, Sunil K. Parapuram, Hong Cheng, Alison Scott, R.E. Hurd, John A. Sayer, Edgar A. Otto, Massimo Attanasio, John F. O’Toole, Genglin Jin, Chengchao Shou, Friedhelm Hildebrandt, David S. Williams, John R. Heckenlively, Anand Swaroop
S166515463. 2006382 CitationsOPEN ACCESS

Related on ScholarIQ

Newcastle upon Tyne Hospitals NHS Foundation Trust
Institution
Whole-genome sequencing of patients with rare diseases in a national health system
Paper
The centrosomal protein nephrocystin-6 is mutated in Joubert syndrome and activates transcription factor ATF4
Paper
Nephrocystin-5, a ciliary IQ domain protein, is mutated in Senior-Loken syndrome and interacts with RPGR and calmodulin
Paper
Exome Capture Reveals ZNF423 and CEP164 Mutations, Linking Renal Ciliopathies to DNA Damage Response Signaling
Paper
In-frame deletion in a novel centrosomal/ciliary protein CEP290/NPHP6 perturbs its interaction with RPGR and results in early-onset retinal degeneration in the rd16 mouse
Paper
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