John Andrew Sayer (John A Sayer, J A Sayer, John Sayer)

Scopus Author ID Loop profile ORCID

Publication Activity (10 Years)

Years Active: 2017-2024
Publications (10 Years): 69

Top Venues

F1000Research

Clinical journal of the American Society of Nephrology : CJASN

Journal of rare diseases (Berlin, Germany)

Proceedings of the National Academy of Sciences of the United States of America

Newcastle University

This page only lists publications with an associated author ORCID identifier.

Affiliation History

Newcastle University Aug 01 2017

United Kingdom

Professor of Renal Medicine :: Institute of Genetic Medicine

Publications

Hellen Lesmann, Alexander Hustinx, Shahida Moosa, Hannah Klinkhammer, Elaine Marchi, Pilar Caro, Ibrahim M Abdelrazek, Jean Tori Pantel, Merle Ten Hagen, Meow-Keong Thong, Rifhan Azwani Binti Mazlan, Sok Kun Tae, Tom Kamphans, Wolfgang Meiswinkel, Jing-Mei Li, Behnam Javanmardi, Alexej Knaus, Annette Uwineza, Cordula Knopp, Tinatin Tkemaladze, Miriam Elbracht, Larissa Mattern, Rami Abou Jamra, Clara Velmans, Vincent Strehlow, Maureen Jacob, Angela Peron, Cristina Dias, Beatriz Carvalho Nunes, Thainá Vilella, Isabel Furquim Pinheiro, Chong Ae Kim, Maria Isabel Melaragno, Hannah Weiland, Sophia Kaptain, Karolina Chwiałkowska, Miroslaw Kwasniewski, Ramy Saad, Sarah Wiethoff, Himanshu Goel, Clara Tang, Anna Hau, Tahsin Stefan Barakat, Przemysław Panek, Amira Nabil, Julia Suh, Frederik Braun, Israel Gomy, Luisa Averdunk, Ekanem Ekure, Gaber Bergant, Borut Peterlin, Claudio Graziano, Nagwa Gaboon, Moisés O Fiesco-Roa, Alessandro Mauro Spinelli, Nina-Maria Wilpert, Prasit Phowthongkum, Nergis Güzel, Tobias B Haack, Rana Bitar, Andreas Tzschach, Agusti Rodriguez-Palmero, Theresa Brunet, Sabine Rudnik-Schöneborn, Silvina Noemi Contreras-Capetillo, Ava Oberlack, Carole Samango-Sprouse, Teresa Sadeghin, Margaret Olaya, Konrad Platzer, Artem O Borovikov, Franziska Schnabel, Lara Heuft, Vera Herrmann, Renske Oegema, Nour Elkhateeb, Sheetal Kumar, Katalin Komlosi, Khoushoua Mohamed, Silvia Kalantari, Fabio Sirchia, Antonio F Martinez-Monseny, Matthias Höller, Louiza Toutouna, Amal Mohamed, Amaia Lasa-Aranzasti, John Andrew Sayer, Nadja Ehmke, Magdalena Danyel, Henrike Sczakiel, Sarina Schwartzmann, Felix Boschann, Max Zhao, Ronja Adam, Lara Einicke, Denise Horn, Kee Seang Chew, Choy Chen Kam, Miray Karakoyun, Ben Pode-Shakked, Aviva Eliyahu, Rachel Rock, Teresa Carrion, Odelia Chorin, Yuri A Zarate, Marcelo Martinez Conti, Mert Karakaya, Moon Ley Tung, Bharatendu Chandra, Arjan Bouman, Aimé Z Lumaka, Naveed Wasif, Marwan S Shinawi, Patrick R Blackburn, Tianyun Wang, Tim Niehues, Axel Schmidt, Regina Rita Roth, Dagmar Wieczorek, Ping Hu, Rebekah L Waikel, Suzanna E Ledgister Hanchard, Gehad Elmakkawy, Sylvia Safwat, Frédéric Ebstein, Elke Krüger, Sébastien Küry, Stephane Bezieau, Annabelle Arlt, Eric Olinger, Felix Marbach, Dong Li, Lucie Dupuis, Roberto Mendoza-Londono, Sofia Douzgou Houge, Denisa Weis, Brian Hon-Yin Chung, Christopher C Y Mak, Hülya Kayserili, Nursel Elcioglu, Ayca Aykut, Peli Özlem Şimşek-Kiper, Nina Bögershausen, Bernd Wollnik, Heidi Beate Bentzen, Ingo Kurth, Christian Netzer, Aleksandra Jezela-Stanek, Koen Devriendt, Karen W Gripp, Martin Mücke, Alain Verloes, Christian P Schaaf, Christoffer Nellåker, Benjamin D Solomon, Markus M Nöthen, Ebtesam Abdalla, Gholson J Lyon, Peter M Krawitz, Tzung-Chien Hsieh
GestaltMatcher Database - A global reference for facial phenotypic variability in rare human diseases. Research square (2024)
Daniel P Gale, Oliver Gross, Fang Wang, Rafael José Esteban de la Rosa, Matthew Hall, John Andrew Sayer, Gerald Appel, Ali Hariri, Shiguang Liu, Manish Maski, Yuqian Shen, Qi Zhang, Sajida Iqbal, Madhurima Uppara Kowthalam, Julie Lin, Jie Ding, null null
A Randomized Controlled Clinical Trial Testing Effects of Lademirsen on Kidney Function Decline in Adults with Alport Syndrome. Clinical journal of the American Society of Nephrology : CJASN 19 (8) (2024)
Tzung-Chien Hsieh, Hellen Lesmann, Alexander Hustinx, Shahida Moosa, Elaine Marchi, Maria Del Pilar Caro Martin, Ibrahim Abdelrazek, Jean Tori Pantel, Hannah Klinkhammer, Merle Ten Hagen, Meow-Keong Thong, Rifhan Azwani Binti Mazlan, Sok Kun Tae, Tom Kamphans, Wolfgang Meiswinkel, Jing-Mei Li, Behnam Javanmardi, Alexej Knaus, Annette Uwineza, Cordula Knopp, Tinatin Tkemaladze, Miriam Elbracht, Larissa Mattern, Rami Abou Jamra, Clara Velmans, Vincent Strehlow, Maureen Jacob, Angela Peron, Cristina Dias, Beatriz Nunes, Thainá Vilella, Isabel Pinheiro, Chong Ae Kim, Maria Melaragno, Hannah Weiland, Sophia Kaptain, Karolina Chwiałkowska, Miroslaw Kwasniewski, Ramy Saad, Sarah Wiethoff, Himanshu Goel, Clara Tang, Anna Hau, Tahsin Stefan Barakat, Przemysław Panek, Amira Nabil, Julia Suh, Frederik Braun, Israel Gomy, Luisa Averdunk, Ekanem Ekure, Gaber Bergant, Borut Peterlin, Claudio Graziano, Nagwa Gaboon, Moisés O Fiesco-Roa, Alessandro Mauro Spinelli, Nina-Maria Wilpert, Prasit Phowthongkum, Nergis Güzel, Tobias B Haack, Rana Bitar, Andreas Tzschach, Agusti Rodriguez-Palmero, Theresa Brunet, Sabine Rudnik-Schöneborn, Silvina Contreras-Capetillo, Ava Oberlack, Carole Samango-Sprouse, Teresa Sadeghin, Margaret Olaya, Konrad Platzer, Artem O Borovikov, Franziska Schnabel, Lara Heuft, Vera Herrmann, Renske Oegema, Nour Elkhateeb, Sheetal Kumar, Katalin Komlosi, Khoushoua Mohamed, Silvia Kalantari, Fabio Sirchia, Antonio Martinez-Monseny, Matthias Höller, Amal Mohamed, Amaia Lasa-Aranzasti, John Andrew Sayer, Nadja Ehmke, Magdalena Danyel, Henrike Sczakiel, Sarina Schwartzmann, Felix Boschann, Max Zhao, Ronja Adams, Lara Einicke, Denise Horn, Kee Seang Chew, Choy Chen Kam, Miray Karakoyun, Ben Pode-Shakked, Aviva Eliyahu, Rachel Rock, Teresa Carrion, Odelia Chorin, Yuri Zarate, Marcello Martinez, Mert Karakaya, Moon Ley Tung, Bharatendu Chandra, Aimé Z Lumaka, Marwan S Shinawi, Patrick R Blackburn, Tianyun Wang, Tim Niehues, Ping Hu, Rebekah Waikel, Suzanna Ledgister Hanchard, Gehad Elmakkawy, Sylvia Safwat, Frédéric Ebstein, Elke Krüger, Sébastien Küry, Stephane Bezieau, Annabelle Arlt, Felix Marbach, Dong Li, Lucie Dupuis, Roberto Mendoza-Londono, Sofia Douzgou Houge, Denisa Weis, Brian Hon-Yin Chung, Christopher Mak, Nursel Elcioglu, Ayca Aykut, Peli Şimşek-Kiper, Nina Bögershausen, Bernd Wollnik, Heidi Beate Bentzen, Ingo Kurth, Christian Netzer, Aleksandra Jezela-Stanek, Koen Devriendt, Karen Gripp, Martin Mücke, Alain Verloes, Christian Schaaf, Christoffer Nellåker, Benjamin Solomon, Markus Nöthen, Ebtesam Abdalla, Gholson J Lyon, Peter Krawitz, Hülya Kayserili, Louiza Toutouna, Axel Schmidt, Regina Roth, Dagmar Wieczorek, Eric Olinger
GestaltMatcher Database - A global reference for facial phenotypic variability in rare human diseases. Research square (2024)
Daniel P Gale, Oliver Gross, Fang Wang, Rafael José Esteban de la Rosa, Matthew Hall, John Andrew Sayer, Gerald Appel, Ali Hariri, Shiguang Liu, Manish Maski, Yuqian Shen, Qi Zhang, Sajida Iqbal, Madhurima Uppara Kowthalam, Julie Lin, Jie Ding, null null
A Randomized Controlled Clinical Trial Testing Effects of Lademirsen on Kidney Function Decline in Adults with Alport Syndrome. Clinical journal of the American Society of Nephrology : CJASN 19 (8) (2024)
Daniel P Gale, Oliver Gross, Fang Wang, Rafael José Esteban de la Rosa, Matthew Hall, John Andrew Sayer, Gerald Appel, Ali Hariri, Shiguang Liu, Manish Maski, Yuqian Shen, Qi Zhang, Sajida Iqbal, Madhurima Uppara Kowthalam, Julie Lin, Jie Ding, null null
A Randomized Controlled Clinical Trial Testing Effects of Lademirsen on Kidney Function Decline in Adults with Alport Syndrome. Clinical journal of the American Society of Nephrology : CJASN 19 (8) (2024)
Hellen Lesmann, Alexander Hustinx, Shahida Moosa, Hannah Klinkhammer, Elaine Marchi, Pilar Caro, Ibrahim M Abdelrazek, Jean Tori Pantel, Merle Ten Hagen, Meow-Keong Thong, Rifhan Azwani Binti Mazlan, Sok Kun Tae, Tom Kamphans, Wolfgang Meiswinkel, Jing-Mei Li, Behnam Javanmardi, Alexej Knaus, Annette Uwineza, Cordula Knopp, Tinatin Tkemaladze, Miriam Elbracht, Larissa Mattern, Rami Abou Jamra, Clara Velmans, Vincent Strehlow, Maureen Jacob, Angela Peron, Cristina Dias, Beatriz Carvalho Nunes, Thainá Vilella, Isabel Furquim Pinheiro, Chong Ae Kim, Maria Isabel Melaragno, Hannah Weiland, Sophia Kaptain, Karolina Chwiałkowska, Miroslaw Kwasniewski, Ramy Saad, Sarah Wiethoff, Himanshu Goel, Clara Tang, Anna Hau, Tahsin Stefan Barakat, Przemysław Panek, Amira Nabil, Julia Suh, Frederik Braun, Israel Gomy, Luisa Averdunk, Ekanem Ekure, Gaber Bergant, Borut Peterlin, Claudio Graziano, Nagwa Gaboon, Moisés O Fiesco-Roa, Alessandro Mauro Spinelli, Nina-Maria Wilpert, Prasit Phowthongkum, Nergis Güzel, Tobias B Haack, Rana Bitar, Andreas Tzschach, Agusti Rodriguez-Palmero, Theresa Brunet, Sabine Rudnik-Schöneborn, Silvina Noemi Contreras-Capetillo, Ava Oberlack, Carole Samango-Sprouse, Teresa Sadeghin, Margaret Olaya, Konrad Platzer, Artem O Borovikov, Franziska Schnabel, Lara Heuft, Vera Herrmann, Renske Oegema, Nour Elkhateeb, Sheetal Kumar, Katalin Komlosi, Khoushoua Mohamed, Silvia Kalantari, Fabio Sirchia, Antonio F Martinez-Monseny, Matthias Höller, Louiza Toutouna, Amal Mohamed, Amaia Lasa-Aranzasti, John Andrew Sayer, Nadja Ehmke, Magdalena Danyel, Henrike Sczakiel, Sarina Schwartzmann, Felix Boschann, Max Zhao, Ronja Adam, Lara Einicke, Denise Horn, Kee Seang Chew, Choy Chen Kam, Miray Karakoyun, Ben Pode-Shakked, Aviva Eliyahu, Rachel Rock, Teresa Carrion, Odelia Chorin, Yuri A Zarate, Marcelo Martinez Conti, Mert Karakaya, Moon Ley Tung, Bharatendu Chandra, Arjan Bouman, Aimé Z Lumaka, Naveed Wasif, Marwan S Shinawi, Patrick R Blackburn, Tianyun Wang, Tim Niehues, Axel Schmidt, Regina Rita Roth, Dagmar Wieczorek, Ping Hu, Rebekah L Waikel, Suzanna E Ledgister Hanchard, Gehad Elmakkawy, Sylvia Safwat, Frédéric Ebstein, Elke Krüger, Sébastien Küry, Stephane Bezieau, Annabelle Arlt, Eric Olinger, Felix Marbach, Dong Li, Lucie Dupuis, Roberto Mendoza-Londono, Sofia Douzgou Houge, Denisa Weis, Brian Hon-Yin Chung, Christopher C Y Mak, Hülya Kayserili, Nursel Elcioglu, Ayca Aykut, Peli Özlem Şimşek-Kiper, Nina Bögershausen, Bernd Wollnik, Heidi Beate Bentzen, Ingo Kurth, Christian Netzer, Aleksandra Jezela-Stanek, Koen Devriendt, Karen W Gripp, Martin Mücke, Alain Verloes, Christian P Schaaf, Christoffer Nellåker, Benjamin D Solomon, Markus M Nöthen, Ebtesam Abdalla, Gholson J Lyon, Peter M Krawitz, Tzung-Chien Hsieh
GestaltMatcher Database - A global reference for facial phenotypic variability in rare human diseases. Research square (2024)
Gavin Esson, Ian Logan, Katrina Wood, Andrew C Browning, John Andrew Sayer
Diverse retinal-kidney phenotypes associated with NPHP1 homozygous whole-gene deletions in patients with kidney failure. Journal of rare diseases (Berlin, Germany) 3 (1) (2024)
Gavin Esson, Ian Logan, Katrina Wood, Andrew C Browning, John Andrew Sayer
Diverse retinal-kidney phenotypes associated with NPHP1 homozygous whole-gene deletions in patients with kidney failure. Journal of rare diseases (Berlin, Germany) 3 (1) (2024)
Daniel P Gale, Oliver Gross, Fang Wang, Rafael José Esteban de la Rosa, Matthew Hall, John Andrew Sayer, Gerald Appel, Ali Hariri, Shiguang Liu, Manish Maski, Yuqian Shen, Qi Zhang, Sajida Iqbal, Madhurima Uppara Kowthalam, Julie Lin, Jie Ding, null null
A Randomized Controlled Clinical Trial Testing Effects of Lademirsen on Kidney Function Decline in Adults with Alport Syndrome. Clinical journal of the American Society of Nephrology : CJASN (2024)
Daniel P Gale, Oliver Gross, Fang Wang, Rafael José Esteban de la Rosa, Matthew Hall, John Andrew Sayer, Gerald Appel, Ali Hariri, Shiguang Liu, Manish Maski, Yuqian Shen, Qi Zhang, Sajida Iqbal, Madhurima Uppara Kowthalam, Julie Lin, Jie Ding, null null
A Randomized Controlled Clinical Trial Testing Effects of Lademirsen on Kidney Function Decline in Adults with Alport Syndrome. Clinical journal of the American Society of Nephrology : CJASN (2024)
Daniel P Gale, Oliver Gross, Fang Wang, Rafael José Esteban de la Rosa, Matthew Hall, John Andrew Sayer, Gerald Appel, Ali Hariri, Shiguang Liu, Manish Maski, Yuqian Shen, Qi Zhang, Sajida Iqbal, Madhurima Uppara Kowthalam, Julie Lin, Jie Ding, null null
A Randomized Controlled Clinical Trial Testing Effects of Lademirsen on Kidney Function Decline in Adults with Alport Syndrome. Clinical journal of the American Society of Nephrology : CJASN 19 (8) (2024)
Laura Devlin, Praveen Dhondurao Sudhindar, John Andrew Sayer
Renal Ciliopathies: Promising drug targets and prospects for clinical trials. Expert opinion on therapeutic targets (2023)
Lidvana Spahiu, John Andrew Sayer, Emir Behluli, Thomas Liehr, Gazmend Temaj
Case Report: Identification of likely recurrent CEP290 mutation in a child with Joubert syndrome and cerebello-retinal-renal features. F1000Research 11 (2023)
Robert M Geraghty, Sarah Orr, Eric Olinger, Ruxandra Neatu, Miguel Barroso-Gil, Holly Mabillard, Genomics England Research Consortium, Ian Wilson, John Andrew Sayer
Use of whole genome sequencing to determine the genetic basis of visceral myopathies including Prune Belly syndrome. Journal of rare diseases (Berlin, Germany) 2 (1) (2023)
Sarah Orr, John Andrew Sayer
Many lessons still to learn about autosomal dominant polycystic kidney disease. Journal of rare diseases (Berlin, Germany) 2 (1) (2023)
G Esson, P Haslam, John Andrew Sayer
Large renal angiomyolipomas in tuberous sclerosis. Oxford medical case reports 2023 (3) (2023)
Sarah Orr, Eric Olinger, Sotia Iosifidou, Miguel Barroso-Gil, Ruxandra Neatu, Katrina Wood, Ian Wilson, null null, John Andrew Sayer
Molecular genetic diagnosis of kidney ciliopathies: Lessons from interpreting genomic sequencing data and the requirement for accurate phenotypic data. Annals of human genetics (2023)
Mohamed S Al Riyami, Intisar Al Alawi, Badria Al Gaithi, Anisa Al Maskari, Naifain Al Kalbani, Nadia Al Hashmi, Aisha Al Balushi, Maryam Al Shahi, Suliman Al Saidi, Muna Al Bimani, Fahad Al Hatali, Holly Mabillard, John Andrew Sayer
Genetic analysis and outcomes of Omani children with steroid-resistant nephrotic syndrome. Molecular genetics & genomic medicine (2023)
G Esson, P Haslam, John Andrew Sayer
Large renal angiomyolipomas in tuberous sclerosis. Oxford medical case reports 2023 (3) (2023)
Eric Olinger, Pran Phakdeekitcharoen, Yasar K Caliskan, Sarah Orr, Holly Mabillard, Charles Pickles, Yincent Tse, Katrina Wood, null null, John Andrew Sayer
Biallelic variants in TTC21B as a rare cause of early-onset arterial hypertension and tubuloglomerular kidney disease. American journal of medical genetics. Part C, Seminars in medical genetics 190 (1) (2022)
Miguel Barroso-Gil, Eric Olinger, John Andrew Sayer
Molecular genetics of renal ciliopathies. Biochemical Society transactions 49 (3) (2022)
Eric Olinger, Céline Schaeffer, Kendrah Kidd, Elhussein A E Elhassan, Yurong Cheng, Inès Dufour, Guglielmo Schiano, Holly Mabillard, Elena Pasqualetto, Patrick Hofmann, Daniel G Fuster, Andreas David Kistler, Ian J Wilson, Stanislav Kmoch, Laure Raymond, Thomas Robert, null null, Kai Uwe Eckardt, Anthony J Bleyer, Anna Köttgen, Peter J Conlon, Michael S Wiesener, John Andrew Sayer, Luca Rampoldi, Olivier Devuyst
An intermediate-effect size variant in UMOD confers risk for chronic kidney disease. Proceedings of the National Academy of Sciences of the United States of America 119 (33) (2022)
Holly Mabillard, Eric Olinger, John Andrew Sayer
UMOD and you! Explaining a rare disease diagnosis. Journal of rare diseases (Berlin, Germany) 1 (1) (2022)
Mohamed H Al-Hamed, John Andrew Sayer, Nada Alsahan, Noel Edwards, Wafaa Ali, Maha Tulbah, Faiqa Imtiaz
Missense Variants in <i>GFRA1</i> and <i>NPNT</i> Are Associated with Congenital Anomalies of the Kidney and Urinary Tract. Genes 13 (10) (2022)
Laura A Devlin, Janice Coles, Claire L Jackson, Miguel Barroso-Gil, Ben Green, Woolf T Walker, N Simon Thomas, James Thompson, Simon A Rock, Ruxandra Neatu, Laura Powell, Elisa Molinari, null null, Ian J Wilson, Heather J Cordell, Eric Olinger, Colin G Miles, John Andrew Sayer, Gabrielle Wheway, Jane S A Lucas
Biallelic variants in CEP164 cause a motile ciliopathy-like syndrome. Clinical genetics (2022)
Holly Mabillard, Eric Olinger, John Andrew Sayer
UMOD and you! Explaining a rare disease diagnosis. Journal of rare diseases (Berlin, Germany) 1 (1) (2022)
Zahra Pournasiri, Abbas Madani, Fatemeh Nazarpack, John Andrew Sayer, Zahra Chavoshzadeh, Fatemeh Nili, Paulina Tran, Julie D Saba, Mahnaz Jamee
Sphingosine phosphate lyase insufficiency syndrome: a systematic review. World journal of pediatrics : WJP (2022)
Holly Mabillard, Eric Olinger, John Andrew Sayer
UMOD and you! Explaining a rare disease diagnosis. Journal of rare diseases (Berlin, Germany) 1 (1) (2022)
Intisar Al Alawi, Mohamed S Al Riyami, Miguel Barroso-Gil, Laura Powell, Eric Olinger, Isa Al Salmi, John Andrew Sayer
The diagnostic yield of whole exome sequencing as a first approach in consanguineous Omani renal ciliopathy syndrome patients. F1000Research 10 (2021)
Miguel Barroso-Gil, Eric Olinger, Simon A Rock, Elisa Molinari, Colin G Miles, John Andrew Sayer
Update of genetic variants in CEP120 and CC2D2A-With an emphasis on genotype-phenotype correlations, tissue specific transcripts and exploring mutation specific exon skipping therapies. Molecular genetics & genomic medicine (2021)
Eric Olinger, Intisar Al Alawi, Mohammed S Al Riyami, Isa Al Salmi, Elisa Molinari, Eissa Ali Faqeih, Mohamed H Al-Hamed, Miguel Barroso-Gil, Laura Powell, Abdulrahman A Al-Hussaini, Khawla A Rahim, Naif A M Almontashiri, Colin Miles, Shirlee Shril, Friedhelm Hildebrandt, Genomics England Research Consortium, Ian J Wilson, John Andrew Sayer
A discarded synonymous variant in NPHP3 explains nephronophthisis and congenital hepatic fibrosis in several families. Human mutation 42 (10) (2021)
Maha Mohamed, James Tellez, Carsten Bergmann, Daniel P Gale, John Andrew Sayer, Eric Olinger
Pseudodominant Alport syndrome caused by pathogenic homozygous and compound heterozygous COL4A3 splicing variants. Annals of human genetics (2021)
Andrew John Mallett, Nine Knoers, John Andrew Sayer, Zornitza Stark
Clinical versus research genomics in kidney disease. Nature reviews. Nephrology 17 (9) (2021)
Hrafnhildur L Runolfsdottir, John Andrew Sayer, Olafur S Indridason, Viðar Ö Eðvarðsson, Brynjar O Jensson, Gudny Anna Arnadottir, Sigurjon A Gudjonsson, Run Fridriksdottir, Hildigunnur Katrinardottir, Daniel Gudbjartsson, Unnur Thorsteinsdottir, Patrick Sulem, Kari Stefansson, Runolfur Palsson
Allele frequency of variants reported to cause adenine phosphoribosyltransferase deficiency. European journal of human genetics : EJHG 29 (7) (2021)
Laura Powell, Eric Olinger, Sarah Wedderburn, Vijayalakshmi Salem Ramakumaran, Usha Kini, Jill Clayton-Smith, Simon C Ramsden, Sarah J Rice, Miguel Barroso-Gil, Ian Wilson, Lorraine Cowley, Sally Johnson, Elizabeth Harris, Tara Montgomery, Marta Bertoli, null null, Eugen Boltshauser, John Andrew Sayer
Identification of LAMA1 mutations ends diagnostic odyssey and has prognostic implications for patients with presumed Joubert syndrome. Brain communications 3 (3) (2021)
Holly Mabillard, Hilary Tedd, Richard Alexander Speight, Christopher Duncan, David A Price, John Andrew Sayer
Case Report: Renal potassium wasting in SARS-CoV-2 infection. F1000Research 9 (2020)
Laura A Devlin, S A Ramsbottom, L M Overman, S N Lisgo, G Clowry, Elisa Molinari, L Powell, C G Miles, John Andrew Sayer
Embryonic and foetal expression patterns of the ciliopathy gene CEP164. PloS one 15 (1) (2020)
Holly Mabillard, John Andrew Sayer
Electrolyte Disturbances in SARS-CoV-2 Infection. F1000Research 9 (2020)
Fay J Dickson, John Andrew Sayer
Nephrocalcinosis: A Review of Monogenic Causes and Insights They Provide into This Heterogeneous Condition. International journal of molecular sciences 21 (1) (2020)
Holly Mabillard, John Andrew Sayer
SARS-CoV-2 and hypokalaemia: evidence and implications. F1000Research (2020)
Elisa Molinari, Shalabh Srivastava, Rebecca M Dewhurst, John Andrew Sayer
Use of patient derived urine renal epithelial cells to confirm pathogenicity of PKHD1 alleles. BMC nephrology 21 (1) (2020)
Mohamed H Al-Hamed, John Andrew Sayer, Nada Alsahan, Maha Tulbah, Wesam Kurdi, Qamariya Ambusaidi, Wafaa Ali, Faiqa Imtiaz
Novel loss of function variants in FRAS1 AND FREM2 underlie renal agenesis in consanguineous families. Journal of nephrology 34 (3) (2020)
Elisa Molinari, John Andrew Sayer
Disease Modeling To Understand the Pathomechanisms of Human Genetic Kidney Disorders. Clinical journal of the American Society of Nephrology : CJASN 15 (6) (2020)
L Powell, M Barroso-Gil, G J Clowry, L A Devlin, E Molinari, S A Ramsbottom, C G Miles, John Andrew Sayer
Expression patterns of ciliopathy genes ARL3 and CEP120 reveal roles in multisystem development. BMC developmental biology 20 (1) (2020)
Mohamed H Al-Hamed, Nada Alsahan, Huda I Tulbah, Wesam Kurdi, Wafa'a Ali, John Andrew Sayer, Faiqa Imtiaz
Fetal Anomalies Associated with Novel Pathogenic Variants in TMEM94. Genes 11 (9) (2020)
Holly Mabillard, Hilary Tedd, Richard Alexander Speight, Christopher Duncan, David A Price, John Andrew Sayer
Case Report: Renal potassium wasting in SARS-CoV-2 infection. F1000Research (2020)
Mohamed H Al-Hamed, Hamad Alzaidan, Maged Hussein, Lina Albaik, Alya Qari, John Andrew Sayer, Faiqa Imtiaz
Novel pathogenic MAPKBP1 variant in a family with nephronophthisis. Clinical kidney journal 14 (2) (2020)
Simon A Rock, Peter E Thelwall, Katrina M Wood, Gavin J Clowry, Laura A Devlin, Flora Silbermann, Helena L Spiewak, Shirlee Shril, Elisa Molinari, Friedhelm Hildebrandt, Meral Gunay-Aygun, Sophie Saunier, Heather J Cordell, John Andrew Sayer, Colin G Miles
Mouse genetics reveals Barttin as a genetic modifier of Joubert syndrome. Proceedings of the National Academy of Sciences of the United States of America 117 (2) (2019)
Wei Wei, Salih Tuna, Michael J Keogh, Katherine R Smith, Timothy J Aitman, Philip L Beales, David L H Bennett, Daniel P Gale, Maria A K Bitner-Glindzicz, Graeme C Black, Paul Brennan, Perry Mark Elliott, Frances A Flinter, R Andres Floto, Henry Houlden, Melita Irving, Ania Koziell, Eamonn R Maher, Hugh Stephen Markus, Nicholas W Morrell, William G Newman, Irene Roberts, John Andrew Sayer, Kenneth G C Smith, Jenny C Taylor, Hugh C Watkins, Andrew R Webster, Andrew O M Wilkie, Catherine Williamson, null null, null null, Sofie Ashford, Christopher J Penkett, Kathleen E Stirrups, Augusto Rendon, Willem H Ouwehand, John R Bradley, F Lucy Raymond, Mark Caulfield, Ernest Turro, Patrick F Chinnery
Germline selection shapes human mitochondrial DNA diversity. Science (New York, N.Y.) 364 (6442) (2019)
Jamie Willows, Maryam Al Badi, Chloe Richardson, Aisha Al Sinani, Noel Edwards, Sarah Rice, John Andrew Sayer
Case Report: Investigation and molecular genetic diagnosis of familial hypomagnesaemia. F1000Research (2019)
Stephanie Urwin, Jamie Willows, John Andrew Sayer
The challenges of diagnosis and management of Gitelman syndrome. Clinical endocrinology 92 (1) (2019)
Amy Fearn, Benjamin Allison, Sarah J Rice, Noel Edwards, Jan Halbritter, Soline Bourgeois, Eva M Pastor-Arroyo, Friedhelm Hildebrandt, Velibor Tasic, Carsten A Wagner, Nati Hernando, John Andrew Sayer, Andreas Werner
Clinical, biochemical, and pathophysiological analysis of SLC34A1 mutations. Physiological reports 6 (12) (2019)
Elisa Molinari, Simon A Ramsbottom, Shalabh Srivastava, Philip Booth, Sumaya Alkanderi, Seamus M McLafferty, Laura A Devlin, Kathryn White, Meral Gunay-Aygun, Colin G Miles, John Andrew Sayer
Targeted exon skipping rescues ciliary protein composition defects in Joubert syndrome patient fibroblasts. Scientific reports 9 (1) (2019)
Laura Powell, Youhani H Samarakoon, Shehab Ismail, John Andrew Sayer
ARL3, a small GTPase with a functionally conserved role in primary cilia and immune synapses. Small GTPases 12 (3) (2019)
Jamie Willows, Maryam Al Badi, Chloe Richardson, Noel Edwards, Sarah Rice, John Andrew Sayer
Case Report: Investigation and molecular genetic diagnosis of familial hypomagnesaemia: a case report. F1000Research 8 (2019)
Simon A Ramsbottom, Elisa Molinari, Shalabh Srivastava, Flora Silberman, Charline Henry, Sumaya Alkanderi, Laura A Devlin, Kathryn White, David H Steel, Sophie Saunier, Colin G Miles, John Andrew Sayer
Targeted exon skipping of a CEP290 mutation rescues Joubert syndrome phenotypes in vitro and in a murine model. Proceedings of the National Academy of Sciences of the United States of America 115 (49) (2018)
Elisa Molinari, Simon A Ramsbottom, Veronica Sammut, Frances E P Hughes, John Andrew Sayer
Using zebrafish to study the function of nephronophthisis and related ciliopathy genes. F1000Research (2018)
John M Darlow, Rebecca Darlay, Mark G Dobson, Aisling Stewart, Pimphen Charoen, Jennifer Southgate, Simon C Baker, Yaobo Xu, Manuela Hunziker, Heather J Lambert, Andrew J Green, Mauro Santibanez-Koref, John Andrew Sayer, Timothy H J Goodship, Prem Puri, Adrian S Woolf, Rajko B Kenda, David E Barton, Heather J Cordell
Publisher Correction: Genome-wide linkage and association study implicates the 10q26 region as a major genetic contributor to primary nonsyndromic vesicoureteric reflux. Scientific reports 8 (1) (2018)
Elisa Molinari, Eva Decker, Holly Mabillard, James Tellez, Shalabh Srivastava, Shreya Raman, Katrina Wood, Caroline Kempf, Sumaya Alkanderi, Simon A Ramsbottom, Colin G Miles, Colin A Johnson, Friedhelm Hildebrandt, Carsten Bergmann, John Andrew Sayer
Human urine-derived renal epithelial cells provide insights into kidney-specific alternate splicing variants. European journal of human genetics : EJHG 26 (12) (2018)
Elisa Molinari, Simon A Ramsbottom, Veronica Sammut, Frances E P Hughes, John Andrew Sayer
Using zebrafish to study the function of nephronophthisis and related ciliopathy genes. F1000Research 7 (2018)
Sarah McCloskey, Paul Brennan, John Andrew Sayer
Variable phenotypic presentations of renal involvement in Fabry disease: a case series. F1000Research 7 (2018)
Zahra Iqbal, John Andrew Sayer
Case Report: Making a diagnosis of familial renal disease - clinical and patient perspectives. F1000Research 6 (2017)
Roman-Ulrich Müller, Christian S Haas, John Andrew Sayer
Practical approaches to the management of autosomal dominant polycystic kidney disease patients in the era of tolvaptan. Clinical kidney journal 11 (1) (2017)
Elisa Molinari, Shalabh Srivastava, John Andrew Sayer, Simon A Ramsbottom
From disease modelling to personalised therapy in patients with CEP290 mutations. F1000Research 6 (2017)
Sven Enerbäck, Daniel Nilsson, Noel Edwards, Mikael Heglind, Sumaya Alkanderi, Emma Ashton, Asma Deeb, Feras E B Kokash, Abdul R A Bakhsh, William Van't Hoff, Stephen B Walsh, Felice D'Arco, Arezoo Daryadel, Soline Bourgeois, Carsten Alexander Wagner, Robert Kleta, Detlef Bockenhauer, John Andrew Sayer
Acidosis and Deafness in Patients with Recessive Mutations in FOXI1. Journal of the American Society of Nephrology : JASN 29 (3) (2017)
Intisar Al Alawi, Isa Al Salmi, Adhra Al Mawali, Yacoub Al Maimani, John Andrew Sayer
End-Stage Kidney Failure in Oman: An Analysis of Registry Data with an Emphasis on Congenital and Inherited Renal Diseases. International journal of nephrology 2017 (2017)
John M Darlow, Rebecca Darlay, Mark G Dobson, Aisling Stewart, Pimphen Charoen, Jennifer Southgate, Simon C Baker, Yaobo Xu, Manuela Hunziker, Heather J Lambert, Andrew J Green, Mauro Santibanez-Koref, John Andrew Sayer, Timothy H J Goodship, Prem Puri, Adrian S Woolf, Rajko B Kenda, David E Barton, Heather J Cordell
Genome-wide linkage and association study implicates the 10q26 region as a major genetic contributor to primary nonsyndromic vesicoureteric reflux. Scientific reports 7 (1) (2017)
Holly Mabillard, Shalabh Srivastava, Philip Haslam, Maciej Karasek, John Andrew Sayer
Large Retroperitoneal Haemorrhage Following Cyst Rupture in a Patient with Autosomal Dominant Polycystic Kidney Disease. Case reports in nephrology 2017 (2017)
Thomas M Connor, Simon Hoer, Andrew Mallett, Daniel P Gale, Aurora Gomez-Duran, Viktor Posse, Robin Antrobus, Pablo Moreno, Marco Sciacovelli, Christian Frezza, Jennifer Duff, Neil S Sheerin, John Andrew Sayer, Margaret Ashcroft, Michael S Wiesener, Gavin Hudson, Claes M Gustafsson, Patrick F Chinnery, Patrick H Maxwell
Mutations in mitochondrial DNA causing tubulointerstitial kidney disease. PLoS genetics 13 (3) (2017)

John Andrew Sayer.css-eqlu8i{font-size:small;padding-left:4px;} (John A Sayer, J A Sayer, John Sayer)

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John Andrew Sayer (John A Sayer, J A Sayer, John Sayer)