Literature DB >> 35853949

An estimate of the cumulative paediatric prevalence of rare diseases in Ireland and comment on the literature.

Emer Gunne1, Deborah M Lambert2, Alana J Ward2, Daniel N Murphy2, Eileen P Treacy2, Sally Ann Lynch3,2.   

Abstract

Entities:  

Year:  2022        PMID: 35853949     DOI: 10.1038/s41431-022-01144-4

Source DB:  PubMed          Journal:  Eur J Hum Genet        ISSN: 1018-4813            Impact factor:   5.351


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  3 in total

1.  Quantifying the contribution of recessive coding variation to developmental disorders.

Authors:  Hilary C Martin; Wendy D Jones; Rebecca McIntyre; Gabriela Sanchez-Andrade; Mark Sanderson; James D Stephenson; Carla P Jones; Juliet Handsaker; Giuseppe Gallone; Michaela Bruntraeger; Jeremy F McRae; Elena Prigmore; Patrick Short; Mari Niemi; Joanna Kaplanis; Elizabeth J Radford; Nadia Akawi; Meena Balasubramanian; John Dean; Rachel Horton; Alice Hulbert; Diana S Johnson; Katie Johnson; Dhavendra Kumar; Sally Ann Lynch; Sarju G Mehta; Jenny Morton; Michael J Parker; Miranda Splitt; Peter D Turnpenny; Pradeep C Vasudevan; Michael Wright; Andrew Bassett; Sebastian S Gerety; Caroline F Wright; David R FitzPatrick; Helen V Firth; Matthew E Hurles; Jeffrey C Barrett
Journal:  Science       Date:  2018-11-08       Impact factor: 47.728

2.  100,000 Genomes Pilot on Rare-Disease Diagnosis in Health Care - Preliminary Report.

Authors:  Damian Smedley; Katherine R Smith; Antonio Martin; Ellen A Thomas; Ellen M McDonagh; Valentina Cipriani; Jamie M Ellingford; Gavin Arno; Arianna Tucci; Jana Vandrovcova; Georgia Chan; Hywel J Williams; Thiloka Ratnaike; Wei Wei; Kathleen Stirrups; Kristina Ibanez; Loukas Moutsianas; Matthias Wielscher; Anna Need; Michael R Barnes; Letizia Vestito; James Buchanan; Sarah Wordsworth; Sofie Ashford; Karola Rehmström; Emily Li; Gavin Fuller; Philip Twiss; Olivera Spasic-Boskovic; Sally Halsall; R Andres Floto; Kenneth Poole; Annette Wagner; Sarju G Mehta; Mark Gurnell; Nigel Burrows; Roger James; Christopher Penkett; Eleanor Dewhurst; Stefan Gräf; Rutendo Mapeta; Mary Kasanicki; Andrea Haworth; Helen Savage; Melanie Babcock; Martin G Reese; Mark Bale; Emma Baple; Christopher Boustred; Helen Brittain; Anna de Burca; Marta Bleda; Andrew Devereau; Dina Halai; Eik Haraldsdottir; Zerin Hyder; Dalia Kasperaviciute; Christine Patch; Dimitris Polychronopoulos; Angela Matchan; Razvan Sultana; Mina Ryten; Ana L T Tavares; Carolyn Tregidgo; Clare Turnbull; Matthew Welland; Suzanne Wood; Catherine Snow; Eleanor Williams; Sarah Leigh; Rebecca E Foulger; Louise C Daugherty; Olivia Niblock; Ivone U S Leong; Caroline F Wright; Jim Davies; Charles Crichton; James Welch; Kerrie Woods; Lara Abulhoul; Paul Aurora; Detlef Bockenhauer; Alexander Broomfield; Maureen A Cleary; Tanya Lam; Mehul Dattani; Emma Footitt; Vijeya Ganesan; Stephanie Grunewald; Sandrine Compeyrot-Lacassagne; Francesco Muntoni; Clarissa Pilkington; Rosaline Quinlivan; Nikhil Thapar; Colin Wallis; Lucy R Wedderburn; Austen Worth; Teofila Bueser; Cecilia Compton; Charu Deshpande; Hiva Fassihi; Eshika Haque; Louise Izatt; Dragana Josifova; Shehla Mohammed; Leema Robert; Sarah Rose; Deborah Ruddy; Robert Sarkany; Genevieve Say; Adam C Shaw; Agata Wolejko; Bishoy Habib; Gavin Burns; Sarah Hunter; Russell J Grocock; Sean J Humphray; Peter N Robinson; Melissa Haendel; Michael A Simpson; Siddharth Banka; Jill Clayton-Smith; Sofia Douzgou; Georgina Hall; Huw B Thomas; Raymond T O'Keefe; Michel Michaelides; Anthony T Moore; Sam Malka; Nikolas Pontikos; Andrew C Browning; Volker Straub; Gráinne S Gorman; Rita Horvath; Richard Quinton; Andrew M Schaefer; Patrick Yu-Wai-Man; Doug M Turnbull; Robert McFarland; Robert W Taylor; Emer O'Connor; Janice Yip; Katrina Newland; Huw R Morris; James Polke; Nicholas W Wood; Carolyn Campbell; Carme Camps; Kate Gibson; Nils Koelling; Tracy Lester; Andrea H Németh; Claire Palles; Smita Patel; Noemi B A Roy; Arjune Sen; John Taylor; Pilar Cacheiro; Julius O Jacobsen; Eleanor G Seaby; Val Davison; Lyn Chitty; Angela Douglas; Kikkeri Naresh; Dom McMullan; Sian Ellard; I Karen Temple; Andrew D Mumford; Gill Wilson; Phil Beales; Maria Bitner-Glindzicz; Graeme Black; John R Bradley; Paul Brennan; John Burn; Patrick F Chinnery; Perry Elliott; Frances Flinter; Henry Houlden; Melita Irving; William Newman; Shamima Rahman; John A Sayer; Jenny C Taylor; Andrew R Webster; Andrew O M Wilkie; Willem H Ouwehand; F Lucy Raymond; John Chisholm; Sue Hill; David Bentley; Richard H Scott; Tom Fowler; Augusto Rendon; Mark Caulfield
Journal:  N Engl J Med       Date:  2021-11-11       Impact factor: 176.079

3.  A retrospective review of the contribution of rare diseases to paediatric mortality in Ireland.

Authors:  Emer Gunne; Cliona McGarvey; Karina Hamilton; Eileen Treacy; Deborah M Lambert; Sally Ann Lynch
Journal:  Orphanet J Rare Dis       Date:  2020-11-04       Impact factor: 4.123

  3 in total

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