Publications · 56 papers · 2000 to 2025
Peer-reviewed research on
federated health data.
Papers by the Lifebit team and by researchers working on Lifebit, from The Lancet Oncology to the first multi-party federation of Trusted Research Environments.
Featured
Clinical potential of whole-genome data linked to mortality statistics in patients with breast cancer in the UK
2,445 breast cancer tumors from the 100,000 Genomes Project, linked to mortality data. Clinically actionable alterations in more than 25% of cases. Black, Davies, Koh… Chatzou Dunford… Nik-Zainal.
Democratizing clinical-genomic data: how federated platforms can promote benefits sharing in genomics
Alvarellos, Sheppard, Knarston, Davison, Raine, Seeger, Prieto Barja, Chatzou Dunford.
Multi-party Trusted Research Environment federation: secure analysis across clinical-genomic datasets
Nik-Zainal, Seeger, Fennessy, Hall, Moss, Coles, Chatzou Dunford, Prieto Barja, Avery, Raine.
All publications
Newest first2026
Iman Nazari, Guo Cheng, James Ashton, Sarah Ennis
NAR Genom Bioinform. 2026 Dec;8(4):lqag113 · DOI 10.1093/nargab/lqag113
2025
Daniella Black, Helen Ruth Davies, Gene Ching Chiek Koh, Lucia Chmelova, Marko Cubric, Georgia Chalivelaki Chan, Andrea Degasperi, Jan Czarnecki, Ping Jing Toong, Yasin Memari, James Whitworth, Salome Jingchen Zhao, Yogesh Kumar, Shadi Basyuni, Giuseppe Rinaldi, Scott Shooter, Vladyslav Dembrovskyi, Rosie Davies, Maria Chatzou Dunford, Ellen Copson, Carlo Palmieri, Åke Borg, John Ambrose, Catey Bunce, Alona Sosinsky, Prabhu Arumugam, Matthew Arthur Brown, Johan Staaf, Nicholas Turner, Serena Nik-Zainal
The Lancet Oncology (2025) · DOI 10.1016/S1470-2045(25)00400-0
2023
Petros Tsipouras, Maria Chatzou Dunford, Hadley Sheppard, Hannah Gaimster, Theoklis Zaoutis
Rare Disease and Orphan Drugs Journal (2023) · DOI 10.20517/rdodj.2023.15
2022
Maria Alvarellos, Hadley E. Sheppard, Ingrid Knarston, Craig Davison, Nathaniel Raine, Thorben Seeger, Pablo Prieto Barja, Maria Chatzou Dunford
Frontiers in Genetics (2022) · DOI 10.3389/fgene.2022.1045450
Professor Serena Nik-Zainal, Thorben Seeger, Rosanna Fennessy, Eleanor Hall, Parker Moss, Geoff Coles, Dr Maria Chatzou Dunford, Dr Pablo Prieto Barja, Mark Avery, Keiran Raine
Zenodo (2022) · DOI 10.5281/zenodo.7085536
2020
GenomeChronicler: The Personal Genome Project UK Genomic Report Generator Pipeline
Guerra-Assuncao JA, Conde L, Moghul I, Webster AP, Chervova O, Chatzipantsiou C, Prieto P, Beck S and Herrero J
bioRxiv 2020.01.06.873026v2 · DOI 10.1101/2020.01.06.873026
2019
Pasolli E, Asnicar F, Manara S, Zolfo M, Karcher N, Armanini F, Beghini F, Manghi P, Tett A, Segata N et al.
Cell. 2019 Jan 24;176(3):649-662.e20 · DOI 10.1016/j.cell.2019.01.001
Novel missense variants in the RNF213 gene from a European family with Moyamoya disease
Andrey N Gagunashvili, Louise Ocaka, Daniel Kelberman, Pinki Munot, Chiara Bacchelli, Philip L Beales, Vijeya Ganesan
Hum Genome Var. 2019 Aug 8;6:35 · DOI 10.1038/s41439-019-0066-6
Plasmid ATLAS: plasmid visual analytics and identification in high-throughput sequencing data
Jesus T, Ribeiro-Gonçalves B, Silva D, Bortolaia V, Ramirez M, Carriço J
Nucleic Acids Research 47(D1) · DOI 10.1093/nar/gky1073
Lamia Mestek-Boukhibar, Emma Clement, Wendy D Jones, Suzanne Drury, Louise Ocaka, Andrey Gagunashvili, Polona Le Quesne Stabej, Chiara Bacchelli, Nital Jani, Shamima Rahman, Lucy Jenkins, Jane A Hurst, Maria Bitner-Glindzicz, Mark Peters, Philip L Beales, Hywel J Williams
J Med Genet. 2018 Nov;55(11):721-728 · DOI 10.1136/jmedgenet-2018-105396
The Personal Genome Project-UK, an open access resource of human multi-omics data
Chervova O, Conde L, Guerra-Assuncao JA, Moghul I, Webster AP, Berner A, Larose Cadieux E, Tian Y, Voloshin V, Jesus TF, Hamoudi R, Herrero J, Beck S
Sci Data. 2019 Oct 31;6(1):257 · DOI 10.1038/s41597-019-0205-4
2018
DNAAF1 links heart laterality with the AAA+ ATPase RUVBL1 and ciliary intraflagellar transport
Verity L Hartill, Glenn van de Hoek, Mitali P Patel, Rosie Little, Christopher M Watson, Ian R Berry, Amelia Shoemark, Dina Abdelmottaleb, Emma Parkes, Chiara Bacchelli, Katarzyna Szymanska, Nine V Knoers, Peter J Scambler, Marius Ueffing, Karsten Boldt, Robert Yates, Paul J Winyard, Beryl Adler, Eduardo Moya, Louise Hattingh, Anil Shenoy, Claire Hogg, Eamonn Sheridan, Ronald Roepman, Dominic Norris, Hannah M Mitchison, Rachel H Giles, Colin A Johnson
Hum Mol Genet. 2018 Feb 1;27(3):529-545 · DOI 10.1093/hmg/ddx422
Managing Bardet–Biedl Syndrome—Now and in the Future
Elizabeth Forsythe, Joanna Kenny, Chiara Bacchelli, Philip Beales
Front Pediatr. 2018 Feb 13;6:23 · DOI 10.3389/fped.2018.00023
chewBBACA: A complete suite for gene-by-gene schema creation and strain identification
Silva M, Machado M, Silva D, Rossi M, Moran-Gilad J, Santos S, Ramirez M, Carriço JA
Microbial Genomics 4(3) · DOI 10.1099/mgen.0.000166
2017
COLEC10 is mutated in 3MC patients and regulates early craniofacial development
Mustafa M Munye, Anna Diaz-Font, Louise Ocaka, Maiken L Henriksen, Melissa Lees, Angela Brady, Dagan Jenkins, Jenny Morton, Soren W Hansen, Chiara Bacchelli, Philip L Beales, Victor Hernandez-Hernandez
PLoS Genet. 2017 Mar 16;13(3):e1006679 · DOI 10.1371/journal.pgen.1006679
Dinu Antony, Narayanan Nampoory, Chiara Bacchelli, Motasem Melhem, Kaman Wu, Chela T James, Philip L Beales, Mike Hubank, Daisy Thomas, Anant Mashankar, Kazem Behbehani, Miriam Schmidts, Osama Alsmadi
Eur J Med Genet. 2017 Dec;60(12):658-666 · DOI 10.1016/j.ejmg.2017.08.019
Mutations in EXTL3 Cause Neuro-immuno-skeletal Dysplasia Syndrome
Machteld M Oud, Paul Tuijnenburg, Maja Hempel, Naomi van Vlies, Zemin Ren, Sacha Ferdinandusse, Machiel H Jansen, René Santer, Jessika Johannsen, Chiara Bacchelli, Marielle Alders, Rui Li, Rosalind Davies, Lucie Dupuis, Catherine M Cale, Ronald J A Wanders, Steven T Pals, Louise Ocaka, Chela James, Ingo Müller, Kai Lehmberg, Tim Strom, Hartmut Engels, Hywel J Williams, Phil Beales, Ronald Roepman, Patricia Dias, Han G Brunner, Jan-Maarten Cobben, Christine Hall, Taila Hartley, Polona Le Quesne Stabej, Roberto Mendoza-Londono, E Graham Davies, Sérgio B de Sousa, Davor Lessel, Heleen H Arts, Taco W Kuijpers
Am J Hum Genet. 2017 Feb 2;100(2):281-296 · DOI 10.1016/j.ajhg.2017.01.013
Chiara Bacchelli, Federico A Moretti, Marlene Carmo, Stuart Adams, Horia C Stanescu, Kerra Pearce, Manisha Madkaikar, Kimberly C Gilmour, Adeline K Nicholas, C Geoffrey Woods, Robert Kleta, Phil L Beales, Waseem Qasim, H Bobby Gaspar
J Allergy Clin Immunol. 2017 Feb;139(2):634-642.e5 · DOI 10.1016/j.jaci.2016.05.036
Nextflow enables reproducible computational workflows
Di Tommaso P, Chatzou M, Floden EW, Barja PP, Palumbo E, Notredame C.
Nat Biotechnol. 2017 Apr 11;35(4):316-319 · DOI 10.1038/nbt.3820
Novel G6B gene variant causes familial autosomal recessive thrombocytopenia and anemia
Motasem Melhem, Mohamed Abu-Farha, Dinu Antony, Ashraf Al Madhoun, Chiara Bacchelli, Fadi Alkayal, Irina AlKhairi, Sumi John, Mohamad Alomari, Phillip L Beales, Osama Alsmadi
Eur J Haematol. 2017 Mar;98(3):218-227 · DOI 10.1111/ejh.12819
Jochen Kammermeier, Robert Dziubak, Matilde Pescarin, Suzanne Drury, Heather Godwin, Kate Reeve, Sibongile Chadokufa, Bonita Huggett, Sara Sider, Chela James, Nikki Acton, Elena Cernat, Marco Gasparetto, Gabi Noble-Jamieson, Fevronia Kiparissi, Mamoun Elawad, Phil L Beales, Neil J Sebire, Kimberly Gilmour, Holm H Uhlig, Chiara Bacchelli, Neil Shah
J Crohns Colitis. 2017 Jan;11(1):60-69 · DOI 10.1093/ecco-jcc/jjw118
Pina-Martins F, Silva D, Fino J, Paulo O
Molecular Ecology Resources 17(6) · DOI 10.1111/1755-0998.12702
Toward personalized medicine in Bardet-Biedl syndrome
Joanna Kenny, Elizabeth Forsythe, Philip Beales, Chiara Bacchelli
Per Med. 2017 Sep;14(5):447-456 · DOI 10.2217/pme-2017-0019
Haplotype selection as an adaptive mechanism in the protozoan pathogen Leishmania donovani
Prieto Barja P, Pescher P, Bussotti G, Dumetz F, Imamura H, Kedra D, Domagalska M, Chaumeau V, Himmelbauer H, Pages M, Sterkers Y, Dujardin JC, Notredame C, Späth GF
Nature Ecology & Evolution 1, 1961–1969 (2017) · DOI 10.1038/s41559-017-0361-x
2016
Vlasova A, Capella-Gutiérrez S, Rendón-Anaya M, Hernández-Oñate M, Minoche AE, Erb I, Câmara F, Prieto-Barja P, Corvelo A, Sanseverino W, Westergaard G, Dohm JC, Pappas GJ Jr, Saburido-Alvarez S, Kedra D, Gonzalez I, Cozzuto L, Gómez-Garrido J, Aguilar-Morón MA, Andreu N, Aguilar OM, Garcia-Mas J, Zehnsdorf M, Vázquez MP, Delgado-Salinas A, Delaye L, Lowy E, Mentaberry A, Vianello-Brondani RP, García JL, Alioto T, Sánchez F, Himmelbauer H, Santalla M, Notredame C, Gabaldón T, Herrera-Estrella A, Guigó R
Genome Biol. 2016 Feb 25;17:32 · DOI 10.1186/s13059-016-0883-6
Multiple sequence alignment modeling: methods and applications
Chatzou M, Magis C, Chang JM, Kemena C, Bussotti G, Erb I, Notredame C.
Brief Bioinform. 2016 Nov;17(6):1009-1023 · DOI 10.1093/bib/bbv099
Chiara Bacchelli, Hywel J Williams
Expert Rev Mol Diagn. 2016 Oct;16(10):1073-1082 · DOI 10.1080/14737159.2016.1222906
Ribeiro-Gonçalves B, Francisco AP, Vaz C, Ramirez M, Carriço J
Nucleic Acids Research 44(W1) · DOI 10.1093/nar/gkw359
STAG3 truncating variant as the cause of primary ovarian insufficiency
Polona Le Quesne Stabej, Hywel J Williams, Chela James, Mehmet Tekman, Horia C Stanescu, Robert Kleta, Louise Ocaka, Francesco Lescai, Helen L Storr, Maria Bitner-Glindzicz, Chiara Bacchelli, Gerard S Conway, GOSgene
Eur J Hum Genet. 2016 Jan;24(1):135-8 · DOI 10.1038/ejhg.2015.107
Seizures Due to a KCNQ2 Mutation: Treatment with Vitamin B6
Emma S Reid, Hywel Williams, Polona Le Quesne Stabej, Chela James, Louise Ocaka, Chiara Bacchelli, Emma J Footitt, Stewart Boyd, Maureen A Cleary, Philippa B Mills, Peter T Clayton
JIMD Rep. 2016;27:79-84 · DOI 10.1007/8904_2015_460
The use of whole-exome sequencing to disentangle complex phenotypes
Hywel J Williams, John R Hurst, Louise Ocaka, Chela James, Caroline Pao, Estelle Chanudet, Francesco Lescai, Horia C Stanescu, Robert Kleta, GOSgene; Elisabeth Rosser, Chiara Bacchelli, Philip Beales
Eur J Hum Genet. 2016 Feb;24(2):298-301 · DOI 10.1038/ejhg.2015.121
2015
The impact of Docker containers on the performance of genomic pipelines
Di Tommaso P, Palumbo E, Chatzou M, Prieto P, Heuer ML, Notredame C
PeerJ 3:e1273, September 2015 · DOI 10.7717/peerj.1273
Third Report on Chicken Genes and Chromosomes 2015
Schmid M, Smith J, Burt DW, Aken BL, Antin PB, Archibald AL, Ashwell C, Blackshear PJ, Boschiero C, Brown CT, Burgess SC, Cheng HH, Chow W, Coble DJ, Cooksey A, Crooijmans RPMA, Damas J, Davis RVN, de Koning D-J, Delany ME, Derrien T, Desta TT, Dunn IC, Dunn M, Ellegren H, Eöry L, Erb I, Farré M, Fasold M, Fleming D, Flicek P, Fowler KE, Frésard L, Froman DP, Garceau V, Gardner PP, Gheyas AA, Griffin DK, Groenen MAM, Haaf T, Hanotte O, Hart A, Häsler J, Hedges SB, Hertel J, Howe K, Hubbard A, Hume DA, Kaiser P, Kedra D, Kemp SJ, Klopp C, Kniel KE, Kuo R, Lagarrigue S, Lamont SJ, Larkin DM, Lawal RA, Markland SM, McCarthy F, McCormack HA, McPherson MC, Motegi A, Muljo SA, Münsterberg A, Nag R, Nanda I, Neuberger M, Nitsche A, Notredame C, Noyes H, O’Connor R, O’Hare EA, Oler AJ, Ommeh SC, Pais H, Persia M, Pitel F, Preeyanon L, Prieto Barja P, Pritchett EM, Rhoads DD, Robinson CM, Romanov MN, Rothschild M, Roux P-F, Schmidt CJ, Schneider A-S, Schwartz MG, Searle SM, Skinner MA, Smith CA, Stadler PF, Steeves TE, Steinlein C, Sun L, Takata M, Ulitsky I, Wang Q, Wang Y, Warren WC, Wood JMD, Wragg D, Zhou H
Cytogenet Genome Res 2015;145:78-179 · DOI 10.1159/000430927
Variable phenotype of severe immunodeficiencies associated with RMRP gene mutations
Winnie Ip, H Bobby Gaspar, Robert Kleta, Estelle Chanudet, Chiara Bacchelli, Alison Pitts, Zohreh Nademi, E Graham Davies, Mary A Slatter, Persis Amrolia, Kanchan Rao, Paul Veys, Andrew R Gennery, Waseem Qasim
J Clin Immunol. 2015 Feb;35(2):147-57 · DOI 10.1007/s10875-015-0135-7
2014
Identification and validation of loss of function variants in clinical contexts
Francesco Lescai, Elena Marasco, Chiara Bacchelli, Philip Stanier, Vilma Mantovani, Philip Beales
Mol Genet Genomic Med. 2014 Jan;2(1):58-63 · DOI 10.1002/mgg3.42
Mutation of SALL2 causes recessive ocular coloboma in humans and mice
Daniel Kelberman, Lily Islam, Jörn Lakowski, Chiara Bacchelli, Estelle Chanudet, Francesco Lescai, Aara Patel, Elia Stupka, Anja Buck, Stephan Wolf, Philip L Beales, Thomas S Jacques, Maria Bitner-Glindzicz, Alki Liasis, Ordan J Lehmann, Jürgen Kohlhase, Ken K Nischal, Jane C Sowden
Hum Mol Genet. 2014 May 15;23(10):2511-26 · DOI 10.1093/hmg/ddt643
Anna C Thomas, Hywel Williams, Núria Setó-Salvia, Chiara Bacchelli, Dagan Jenkins, Mary O’Sullivan, Konstantinos Mengrelis, Miho Ishida, Louise Ocaka, Estelle Chanudet, Chela James, Francesco Lescai, Glenn Anderson, Deborah Morrogh, Mina Ryten, Andrew J Duncan, Yun Jin Pai, Jorge M Saraiva, Fabiana Ramos, Bernadette Farren, Dawn Saunders, Bertrand Vernay, Paul Gissen, Anna Straatmaan-Iwanowska, Frank Baas, Nicholas W Wood, Joshua Hersheson, Henry Houlden, Jane Hurst, Richard Scott, Maria Bitner-Glindzicz, Gudrun E Moore, Sérgio B Sousa, Philip Stanier
Am J Hum Genet. 2014 Nov 6;95(5):611-21 · DOI 10.1016/j.ajhg.2014.10.007
Perinatal systemic gene delivery using adeno-associated viral vectors
Rajvinder Karda, Suzanne M K Buckley, Citra N Mattar, Joanne Ng, Giulia Massaro, Michael P Hughes, Manju A Kurian, Julien Baruteau, Paul Gissen, Jerry K Y Chan, Chiara Bacchelli, Simon N Waddington, Ahad A Rahim
Front Mol Neurosci. 2014 Nov 14;7:89 · DOI 10.3389/fnmol.2014.00089
Principles of regulatory information conservation between mouse and human
Cheng Y, Ma Z, Kim BH, Wu W, Cayting P, Boyle AP, Sundaram V, Xing X, Dogan N, Li J, Euskirchen G, Lin S, Lin Y, Visel A, Kawli T, Yang X, Patacsil D, Keller CA, Giardine B; mouse ENCODE Consortium, Kundaje A, Wang T, Pennacchio LA, Weng Z, Hardison RC, Snyder MP
Nature 515, 371–375, Nov 2014 · DOI 10.1038/nature13985
Jochen Kammermeier, Suzanne Drury, Chela T James, Robert Dziubak, Louise Ocaka, Mamoun Elawad, Philip Beales, Nicholas Lench, Holm H Uhlig, Chiara Bacchelli, Neil Shah
J Med Genet. 2014 Nov;51(11):748-55 · DOI 10.1136/jmedgenet-2014-102624
2013
ARNT2 mutation causes hypopituitarism, post-natal microcephaly, visual and renal anomalies
Emma A Webb, Angham AlMutair, Daniel Kelberman, Chiara Bacchelli, Estelle Chanudet, Francesco Lescai, Cynthia L Andoniadou, Abdul Banyan, Al Alsawaid, Muhammad T Alrifai, Mohammed A Alahmesh, M Balwi, Seyedeh N Mousavy-Gharavy, Biljana Lukovic, Derek Burke, Mark J McCabe, Tessa Kasia, Robert Kleta, Elia Stupka, Philip L Beales, Dorothy A Thompson, W Kling Chong, Fowzan S Alkuraya, Juan-Pedro Martinez-Barbera, Jane C Sowden, Mehul T Dattani
Brain. 2013 Oct;136(Pt 10):3096-105 · DOI 10.1093/brain/awt218
2012
CUDA implementation of the algorithm for simulating the epidemic spreading over large networks
Šošić M, Šikić M
MIPRO 2012, 35th International Convention on Information and Communication Technology
Characterization and validation of insertions and deletions in 173 patient exomes
Francesco Lescai, Silvia Bonfiglio, Chiara Bacchelli, Estelle Chanudet, Aoife Waters, Sanjay M Sisodiya, Dalia Kasperavičiūtė, Julie Williams, Denise Harold, John Hardy, Robert Kleta, Sebahattin Cirak, Richard Williams, John C Achermann, John Anderson, David Kelsell, Tom Vulliamy, Henry Houlden, Nicholas Wood, Una Sheerin, Gian Paolo Tonini, Donna Mackay, Khalid Hussain, Jane Sowden, Veronica Kinsler, Justyna Osinska, Tony Brooks, Mike Hubank, Philip Beales, Elia Stupka
PLoS One. 2012;7(12):e51292 · DOI 10.1371/journal.pone.0051292
GPU implementation of epidemiological behavior in large social networks
Menon SKM, Baruah PK, Sosic M
IEEE International Conference on High Performance Computing (HiPC), 2012
2011
Ingrid Slade, Chiara Bacchelli, Helen Davies, Anne Murray, Fatemeh Abbaszadeh, Sandra Hanks, Rita Barfoot, Amos Burke, Julia Chisholm, Martin Hewitt, Helen Jenkinson, Derek King, Bruce Morland, Barry Pizer, Katrina Prescott, Anand Saggar, Lucy Side, Heidi Traunecker, Sucheta Vaidya, Paul Ward, P Andrew Futreal, Gordan Vujanic, Andrew G Nicholson, Neil Sebire, Clare Turnbull, John R Priest, Kathryn Pritchard-Jones, Richard Houlston, Charles Stiller, Michael R Stratton, Jenny Douglas, Nazneen Rahman
J Med Genet. 2011 Apr;48(4):273-8 · DOI 10.1136/jmg.2010.083790
Chiara Bacchelli, Karen F Buckland, Sylvie Buckridge, Ulrich Salzer, Pascal Schneider, Adrian J Thrasher, H Bobby Gaspar
J Allergy Clin Immunol. 2011 May;127(5):1253-9.e13 · DOI 10.1016/j.jaci.2011.02.037
2009
Ulrich Salzer, Chiara Bacchelli, Sylvie Buckridge, Qiang Pan-Hammarström, Stephanie Jennings, Vassilis Lougaris, Astrid Bergbreiter, Tina Hagena, Jennifer Birmelin, Alessandro Plebani, A David B Webster, Hans-Hartmut Peter, Daniel Suez, Helen Chapel, Andrew McLean-Tooke, Gavin P Spickett, Stephanie Anover-Sombke, Hans D Ochs, Simon Urschel, Bernd H Belohradsky, Sanja Ugrinovic, Dinakantha S Kumararatne, Tatiana C Lawrence, Are M Holm, Jose L Franco, Ilka Schulze, Pascal Schneider, E Michael Gertz, Alejandro A Schäffer, Lennart Hammarström, Adrian J Thrasher, H Bobby Gaspar, Bodo Grimbacher
Blood. 2009 Feb 26;113(9):1967-76 · DOI 10.1182/blood-2008-02-141937
2007
Philip L Beales, Elizabeth Bland, Jonathan L Tobin, Chiara Bacchelli, Beyhan Tuysuz, Josephine Hill, Suzanne Rix, Chad G Pearson, Masatake Kai, Jane Hartley, Colin Johnson, Melita Irving, Nursel Elcioglu, Mark Winey, Masazumi Tada, Peter J Scambler
Nat Genet. 2007 Jun;39(6):727-9 · DOI 10.1038/ng2038
Qiang Pan-Hammarström, Ulrich Salzer, Likun Du, Janne Björkander, Charlotte Cunningham-Rundles, David L Nelson, Chiara Bacchelli, H Bobby Gaspar, Steven Offer, Timothy W Behrens, Bodo Grimbacher, Lennart Hammarström
Nat Genet. 2007 Apr;39(4):429-30 · DOI 10.1038/ng0407-429
Sequence analysis of TNFRSF13b, encoding TACI, in patients with systemic lupus erythematosus
Ulrich Salzer, Jennifer Birmelin, Chiara Bacchelli, Torsten Witte, Ulrike Buchegger-Podbielski, Sylvie Buckridge, Rita Rzepka, H Bobby Gaspar, Adrian J Thrasher, Reinhold E Schmidt, Inga Melchers, Bodo Grimbacher
J Clin Immunol. 2007 Jul;27(4):372-7 · DOI 10.1007/s10875-007-9094-y
C Bacchelli, S Buckridge, A J Thrasher, H B Gaspar
Clin Exp Immunol. 2007 Sep;149(3):401-9 · DOI 10.1111/j.1365-2249.2007.03461.x
2003
A locus for asphyxiating thoracic dystrophy, ATD, maps to chromosome 15q13
N V Morgan, C Bacchelli, P Gissen, J Morton, G B Ferrero, M Silengo, P Labrune, I Casteels, C Hall, P Cox, D A Kelly, R C Trembath, P J Scambler, E R Maher, F R Goodman, C A Johnson
J Med Genet. 2003 Jun;40(6):431-5 · DOI 10.1136/jmg.40.6.431
ROR2 is mutated in hereditary brachydactyly with nail dysplasia, but not in Sorsby syndrome
C Bacchelli, L C Wilson, J A Cook, R M Winter, F R Goodman
Clin Genet. 2003 Sep;64(3):263-5 · DOI 10.1034/j.1399-0004.2003.00139.x
2002
Jeffrey W Innis, Frances R Goodman, Chiara Bacchelli, Thomas M Williams, Douglas P Mortlock, Praveen Sateesh, Peter J Scambler, Wendy McKinnon, Alan E Guttmacher
Hum Mutat. 2002 May;19(5):573-4 · DOI 10.1002/humu.9036
P Debeer, C Bacchelli, P J Scambler, L De Smet, J-P Fryns, F R Goodman
J Med Genet. 2002 Nov;39(11):852-6 · DOI 10.1136/jmg.39.11.852
2001
Cenani-Lenz syndrome with renal hypoplasia is not linked to FORMIN or GREMLIN
C Bacchelli, F R Goodman, P J Scambler, R M Winter
Clin Genet. 2001 Mar;59(3):203-5 · DOI 10.1034/j.1399-0004.2001.590312.x
2000
Novel HOXA13 mutations and the phenotypic spectrum of hand-foot-genital syndrome
F R Goodman, C Bacchelli, A F Brady, L A Brueton, J P Fryns, D P Mortlock, J W Innis, L B Holmes, A E Donnenfeld, M Feingold, F A Beemer, R C Hennekam, P J Scambler
Am J Hum Genet. 2000 Jul;67(1):197-202 · DOI 10.1086/302961
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