Sara Cuvertino

Affiliations

Division of Evolution and Genomic Sciences, School of Biological Sciences, Faculty of Biology, Medicine, and Health, The University of Manchester, Manchester, UK.
Division of Cell Matrix Biology and Regenerative Medicine, School of Biological Sciences, Faculty of Biology, Medicine, and Health, The University of Manchester, Manchester, UK.

Publications (7)

Correction: A restricted spectrum of missense KMT2D variants cause a multiple malformations disorder distinct from Kabuki syndrome.

Genetics in medicine : official journal of the American College of Medical Genetics

Avec: Sara Cuvertino , Verity Hartill , Alice Colyer , Terence Garner , Nisha Nair , Lihadh Al-Gazali , Natalie Canham , Victor Faundes , Frances Flinter , Jozef Hertecant , Muriel Holder-Espinasse , Brian Jackson , Sally Ann Lynch , Fatima Nadat , Vagheesh M Narasimhan , Michelle Peckham , Robert Sellers , Marco Seri , Francesca Montanari , Laura Southgate , Gabriella Maria Squeo , Richard Trembath , David van Heel , Santina Venuto , Daniel Weisberg , Karen Stals , Sian Ellard , Auteur inconnu , Anne Barton , Susan J Kimber , Eamonn Sheridan , Giuseppe Merla , Adam Stevens , Colin A Johnson , Siddharth Banka

Germline intergenic duplications at Xq26.1 underlie Bazex-Dupré-Christol basal cell carcinoma susceptibility syndrome.

The British journal of dermatology

Avec: Yanshan Liu , Siddharth Banka , Yingzhi Huang , Jonathan Hardman-Smart , Derek Pye , Antonio Torrelo , Glenda M Beaman , Marcelo G Kazanietz , Martin J Baker , Carlo Ferrazzano , Chenfu Shi , Gisela Orozco , Stephen Eyre , Michel van Geel , Anette Bygum , Judith Fischer , Zosia Miedzybrodzka , Faris Abuzahra , Albert Rübben , Sara Cuvertino , Jamie M Ellingford , Miriam J Smith , D Gareth Evans , Lizelotte J M T Weppner-Parren , Maurice A M van Steensel , Iskander H Chaudhary , D Chas Mangham , John T Lear , Ralf Paus , Jorge Frank , William G Newman , Xue Zhang

Mutations in PCYT2 disrupt etherlipid biosynthesis and cause a complex hereditary spastic paraplegia.

Brain : a journal of neurology

Avec: Frédéric M Vaz , John H McDermott , Mariëlle Alders , Saskia B Wortmann , Stefan Kölker , Mia L Pras-Raves , Martin A T Vervaart , Henk van Lenthe , Angela C M Luyf , Hyung L Elfrink , Kay Metcalfe , Sara Cuvertino , Peter E Clayton , Rebecca Yarwood , Martin P Lowe , Simon Lovell , Richard C Rogers , Auteur inconnu , Antoine H C van Kampen , Jos P N Ruiter , Ronald J A Wanders , Sacha Ferdinandusse , Michel van Weeghel , Marc Engelen , Siddharth Banka

Effect of a retinoic acid analogue on BMP-driven pluripotent stem cell chondrogenesis.

Scientific reports

Avec: Fabrizio E Mancini , Paul E A Humphreys , Steven Woods , Nicola Bates , Sara Cuvertino , Julieta O'Flaherty , Leela Biant , Marco A N Domingos , Susan J Kimber

Haploinsufficiency of ATP6V0C possibly underlies 16p13.3 deletions that cause microcephaly, seizures, and neurodevelopmental disorder.

American journal of medical genetics. Part A

Avec: Rory J Tinker , George J Burghel , Shruti Garg , Maggie Steggall , Sara Cuvertino , Siddharth Banka

Impaired eIF5A function causes a Mendelian disorder that is partially rescued in model systems by spermidine.

Nature communications

Avec: Víctor Faundes , Martin D Jennings , Siobhan Crilly , Sarah Legraie , Sarah E Withers , Sara Cuvertino , Sally J Davies , Andrew G L Douglas , Andrew E Fry , Victoria Harrison , Jeanne Amiel , Daphné Lehalle , William G Newman , Patricia Newkirk , Judith Ranells , Miranda Splitt , Laura A Cross , Carol J Saunders , Bonnie R Sullivan , Jorge L Granadillo , Christopher T Gordon , Paul R Kasher , Graham D Pavitt , Siddharth Banka

A restricted spectrum of missense KMT2D variants cause a multiple malformations disorder distinct from Kabuki syndrome.

Genetics in medicine : official journal of the American College of Medical Genetics

Avec: Sara Cuvertino , Verity Hartill , Alice Colyer , Terence Garner , Nisha Nair , Lihadh Al-Gazali , Natalie Canham , Victor Faundes , Frances Flinter , Jozef Hertecant , Muriel Holder-Espinasse , Brian Jackson , Sally Ann Lynch , Fatima Nadat , Vagheesh M Narasimhan , Michelle Peckham , Robert Sellers , Marco Seri , Francesca Montanari , Laura Southgate , Gabriella Maria Squeo , Richard Trembath , David van Heel , Santina Venuto , Daniel Weisberg , Karen Stals , Sian Ellard , Auteur inconnu , Anne Barton , Susan J Kimber , Eamonn Sheridan , Giuseppe Merla , Adam Stevens , Colin A Johnson , Siddharth Banka

Réseau de co-auteurs

Siddharth Banka 6 collaborations

None None 3 collaborations

Susan J Kimber 3 collaborations

Verity Hartill 2 collaborations

Alice Colyer 2 collaborations

Terence Garner 2 collaborations

Nisha Nair 2 collaborations

Lihadh Al-Gazali 2 collaborations

Natalie Canham 2 collaborations

Victor Faundes 2 collaborations

Frances Flinter 2 collaborations

Jozef Hertecant 2 collaborations

Muriel Holder-Espinasse 2 collaborations

Brian Jackson 2 collaborations

Sally Ann Lynch 2 collaborations

Fatima Nadat 2 collaborations

Vagheesh M Narasimhan 2 collaborations

Michelle Peckham 2 collaborations

Robert Sellers 2 collaborations

Marco Seri 2 collaborations

Francesca Montanari 2 collaborations

Laura Southgate 2 collaborations

Gabriella Maria Squeo 2 collaborations

Richard Trembath 2 collaborations

David van Heel 2 collaborations

Santina Venuto 2 collaborations

Daniel Weisberg 2 collaborations

Karen Stals 2 collaborations

Sian Ellard 2 collaborations

Anne Barton 2 collaborations

Eamonn Sheridan 2 collaborations

Giuseppe Merla 2 collaborations

Adam Stevens 2 collaborations

Colin A Johnson 2 collaborations

William G Newman 2 collaborations

Yanshan Liu 1 collaboration

Yingzhi Huang 1 collaboration

Jonathan Hardman-Smart 1 collaboration

Derek Pye 1 collaboration

Antonio Torrelo 1 collaboration

Glenda M Beaman 1 collaboration

Marcelo G Kazanietz 1 collaboration

Martin J Baker 1 collaboration

Carlo Ferrazzano 1 collaboration

Chenfu Shi 1 collaboration

Gisela Orozco 1 collaboration

Stephen Eyre 1 collaboration

Michel van Geel 1 collaboration

Anette Bygum 1 collaboration

Judith Fischer 1 collaboration

Zosia Miedzybrodzka 1 collaboration

Faris Abuzahra 1 collaboration

Albert Rübben 1 collaboration

Jamie M Ellingford 1 collaboration

Miriam J Smith 1 collaboration

D Gareth Evans 1 collaboration

Lizelotte J M T Weppner-Parren 1 collaboration

Maurice A M van Steensel 1 collaboration

Iskander H Chaudhary 1 collaboration

D Chas Mangham 1 collaboration

John T Lear 1 collaboration

Ralf Paus 1 collaboration

Jorge Frank 1 collaboration

Xue Zhang 1 collaboration

Frédéric M Vaz 1 collaboration

John H McDermott 1 collaboration

Mariëlle Alders 1 collaboration

Saskia B Wortmann 1 collaboration

Stefan Kölker 1 collaboration

Mia L Pras-Raves 1 collaboration

Martin A T Vervaart 1 collaboration

Henk van Lenthe 1 collaboration

Angela C M Luyf 1 collaboration

Hyung L Elfrink 1 collaboration

Kay Metcalfe 1 collaboration

Peter E Clayton 1 collaboration

Rebecca Yarwood 1 collaboration

Martin P Lowe 1 collaboration

Simon Lovell 1 collaboration

Richard C Rogers 1 collaboration

Antoine H C van Kampen 1 collaboration

Jos P N Ruiter 1 collaboration

Ronald J A Wanders 1 collaboration

Sacha Ferdinandusse 1 collaboration

Michel van Weeghel 1 collaboration

Marc Engelen 1 collaboration

Fabrizio E Mancini 1 collaboration

Paul E A Humphreys 1 collaboration

Steven Woods 1 collaboration

Nicola Bates 1 collaboration

Julieta O'Flaherty 1 collaboration

Leela Biant 1 collaboration

Marco A N Domingos 1 collaboration

Rory J Tinker 1 collaboration

George J Burghel 1 collaboration

Shruti Garg 1 collaboration

Maggie Steggall 1 collaboration

Víctor Faundes 1 collaboration

Martin D Jennings 1 collaboration

Siobhan Crilly 1 collaboration

Sarah Legraie 1 collaboration

Sarah E Withers 1 collaboration

Sally J Davies 1 collaboration

Andrew G L Douglas 1 collaboration

Andrew E Fry 1 collaboration

Victoria Harrison 1 collaboration

Jeanne Amiel 1 collaboration

Daphné Lehalle 1 collaboration

Patricia Newkirk 1 collaboration

Judith Ranells 1 collaboration

Miranda Splitt 1 collaboration

Laura A Cross 1 collaboration

Carol J Saunders 1 collaboration

Bonnie R Sullivan 1 collaboration

Jorge L Granadillo 1 collaboration

Christopher T Gordon 1 collaboration

Paul R Kasher 1 collaboration

Graham D Pavitt 1 collaboration