About
I am a postdoctoral research fellow from Professor Diana Baralle group, working on splicing in rare diseases.
Publications
11 publications
Page 1 of 2
Jenny Lord,
Andrew G.L. Douglas,
David J. Bunyan,
Yaqiong Wang,
Zhiqiang Hu,
Zishuo Zeng,
Daniel Danis,
Panagiotis Katsonis,
Amanda Williams,
Oliver Lichtarge,
Yuchen Chang,
Richard D. Bagnall,
Stephen M. Mount,
Brynja Matthiasardottir,
Chiaofeng Lin,
Thomas van Overeem Hansen,
Raphael Leman,
Alexandra Martins,
Claude Houdayer,
Sophie Krieger,
Constantina Bakolitsa,
Yisu Peng,
Akash Kamandula,
Predrag Radivojac,
& Diana Baralle
, 2024
, Human Genetics
Type: article
Gabriella Gazdagh,
David Hunt,
Anna Maria Cueto Gonzalez,
Monserrat Pons Rodriguez,
Ayeshah Chaudhry,
Marcos Madruga,
Fleur Vansenne,
Deborah Shears,
Aurore Curie,
Eva-Lena Stattin,
Britt-Marie Anderlid,
Slavica Trajkova,
Elena Sukarova Angelovska,
Catherine McWilliam,
Philip R. Wyatt,
Mary O’Driscoll,
Giles Atton,
Anke K. Bergman,
Pia Zacher,
Leena D. Mewasingh,
Antonio Gonzalez-Meneses Lopez,
Olga Alonso-Luengo,
Ottilie Rohde,
Pauline Boiroux,
Anne Debant,
Susanne Schmidt,
Diana Baralle,
&
, 2023
, American Journal of Medical Genetics: Part A
, 191 (7) , 1722--1740
DOI: 10.1002/ajmg.a.63194
Type: article
Temporal whole-transcriptomic analysis of characterized in vitro and ex vivo primary nasal epithelia
Jelmer Legebeke,
Katie Leanne Horton,
Claire Jackson,
Janice Coles,
Amanda Harris,
Gabrielle Wheway,
, 2022
, Frontiers in Cell and Developmental Biology
, 10 , 907511
Type: article
Alexander J.M. Blakes,
Htoo Wai,
Ian Davies,
Hassan E Moledina,
April Ruiz,
Tessy Thomas,
David Bunyan,
N Simon Thomas,
Christine P Burren,
Lynn Greenhalgh,
Melissa Lees,
Amanda Pichini,
Sarah F. Smithson,
Ana Lisa Taylor Tavares,
Peter O'Donovan,
Andrew Douglas,
,
Nicola Whiffin,
& Jenny Lord
, 2022
, Genome Medicine
, 14 (1) , 79
Type: article
Htoo Wai,
Matthew Constable,
Cosima Drewes,
Ian C Davies,
Eliska Svobodova,
Esther Dempsey,
Anand Saggar,
Sahar Mansour,
Sofia Douzgou,
Kate Barr,
Stephanie Scott,
David Hunt,
Andrew Douglas,
, 2022
, Human Mutation
, 43 (7) , 963--970
DOI: 10.1002/humu.24378
Type: article
,
Charlie Rowlands,
Huw B Thomas,
Jenny Lord,
Htoo Wai,
Gavin Arno,
Glenda Beaman,
Panagiotis I. Sergouniotis,
Beatriz Gomes-Silva,
Christopher Campbell,
Nicole Gossan,
Claire Hardcastle,
Kevin Webb,
Christopher O'Callaghan,
Robert A. Hirst,
Simon Ramsden,
Elizabeth Jones,
Jill Clayton-Smith,
Andrew R. Webster,
Andrew Douglas,
Raymond T O'Keefe,
William G. Newman ,
Graema CM Black,
& Jamie M. Ellingford
, 2021
, Scientific Reports
, 11 (1)
Type: article
Jelmer Legebeke,
Gabrielle Wheway,
Claire Jackson,
Janice Coles,
, 2021
, European Respiratory Journal
, 58 (63)
Type: conference
William Macken,
Annie Godwin,
Gabrielle Wheway,
Karen Stals,
Liliya Nazlamova,
Sian Ellard,
Ahmed Alfares,
Taghrid Aloraini,
Lamia AlSubaie,
Majid Alfadhel,
Sulaiman Alajaji,
Htoo Wai,
Andrew Douglas,
Alexander Kao,
Matthew Guille,
, 2021
, Genome Medicine
, 13 (1) , 34
Type: article
Sonia Barbosa,
Stephanie Greville-Heygate,
Maxime Bonnet,
Annie Godwin,
Christine Fagotto-Kaufmann,
Andrey Kajava,
Damien Laouteouet,
Rebecca Mawby,
Htoo Wai,
Alexander Dingemans,
Bert De Vries,
Marjorlaine Willems,
Yline Capri,
Sarju G. Mehta,
Helen Cox,
David Goudie,
Fleur Vansenne,
Peter Turnpenny,
Marie Vincent,
Gaetan Lesca,
Jozef Hertecant,
Diana Rodriguez,
Gerard Marion,
Audrey Putoux,
Keri Ramsey,
Vincent Kantagrel,
Sidharth Banka,
Ajoy Sarkar,
Marcie Steeves,
Michael Parker,
Emma Clement,
Serbastien Mouttton,
Frederic Tran-Mau-Them,
Amelie Piton,
Matthew Guille,
Anne Debant,
Susanne Schmidt,
, 2020
, The American Journal of Human Genetics
, 106 (3) , 338--355
Type: article
Htoo Wai,
Jenny Lord,
Matthew S Lyon,
Adam Gunning,
Hugh Kelly,
Penelope Cibin,
Eleanor Seaby,
Kerry Spiers-Fitzgerald,
Jed Lye,
Sian Ellard,
N. Simon Thomas,
David Bunyan,
Andrew Douglas,
, 2020
, Genetics in Medicine
, 22 (6) , 1005--1014
Type: article