Alba Sanchis-Juan

Affiliations
  • Department of Haematology, University of Cambridge, Cambridge Biomedical Campus, Cambridge, UK.
  • NIHR BioResource, Cambridge University Hospitals NHS Foundation, Cambridge Biomedical Campus, Cambridge, UK.

Publications (41)

Whole-genome sequencing of patients with rare diseases in a national health system.

Nature
Avec: Ernest Turro , William J Astle , Karyn Megy , Stefan Gräf , Daniel Greene , Olga Shamardina , Hana Lango Allen , Alba Sanchis-Juan , Mattia Frontini , Chantal Thys , Jonathan Stephens , Rutendo Mapeta , Oliver S Burren , Kate Downes , Matthias Haimel , Salih Tuna , Sri V V Deevi , Timothy J Aitman , David L Bennett , Paul Calleja , Keren Carss , Mark J Caulfield , Patrick F Chinnery , Peter H Dixon , Daniel P Gale , Roger James , Ania Koziell , Michael A Laffan , Adam P Levine , Eamonn R Maher , Hugh S Markus , Joannella Morales , Nicholas W Morrell , Andrew D Mumford , Elizabeth Ormondroyd , Stuart Rankin , Augusto Rendon , Sylvia Richardson , Irene Roberts , Noemi B A Roy , Moin A Saleem , Kenneth G C Smith , Hannah Stark , Rhea Y Y Tan , Andreas C Themistocleous , Adrian J Thrasher , Hugh Watkins , Andrew R Webster , Martin R Wilkins , Catherine Williamson , James Whitworth , Sean Humphray , David R Bentley , Auteur inconnu , Nathalie Kingston , Neil Walker , John R Bradley , Sofie Ashford , Christopher J Penkett , Kathleen Freson , Kathleen E Stirrups , F Lucy Raymond , Willem H Ouwehand

Publisher Correction: Whole-genome sequencing of a sporadic primary immunodeficiency cohort.

Nature
Avec: James E D Thaventhiran , Hana Lango Allen , Oliver S Burren , William Rae , Daniel Greene , Emily Staples , Zinan Zhang , James H R Farmery , Ilenia Simeoni , Elizabeth Rivers , Jesmeen Maimaris , Christopher J Penkett , Jonathan Stephens , Sri V V Deevi , Alba Sanchis-Juan , Nicholas S Gleadall , Moira J Thomas , Ravishankar B Sargur , Pavels Gordins , Helen E Baxendale , Matthew Brown , Paul Tuijnenburg , Austen Worth , Steven Hanson , Rachel J Linger , Matthew S Buckland , Paula J Rayner-Matthews , Kimberly C Gilmour , Crina Samarghitean , Suranjith L Seneviratne , David M Sansom , Andy G Lynch , Karyn Megy , Eva Ellinghaus , David Ellinghaus , Silje F Jorgensen , Tom H Karlsen , Kathleen E Stirrups , Antony J Cutler , Dinakantha S Kumararatne , Anita Chandra , J David M Edgar , Archana Herwadkar , Nichola Cooper , Sofia Grigoriadou , Aarnoud P Huissoon , Sarah Goddard , Stephen Jolles , Catharina Schuetz , Felix Boschann , Auteur inconnu , Paul A Lyons , Matthew E Hurles , Sinisa Savic , Siobhan O Burns , Taco W Kuijpers , Ernest Turro , Willem H Ouwehand , Adrian J Thrasher , Kenneth G C Smith

Long-Read Sequencing Identifies the First Retrotransposon Insertion and Resolves Structural Variants Causing Antithrombin Deficiency.

Thrombosis and haemostasis
Avec: Belén de la Morena-Barrio , Jonathan Stephens , María Eugenia de la Morena-Barrio , Luca Stefanucci , José Padilla , Antonia Miñano , Nicholas Gleadall , Juan Luis García , María Fernanda López-Fernández , Pierre-Emmanuel Morange , Marja Puurunen , Anetta Undas , Francisco Vidal , Frances Lucy Raymond , Vicente Vicente , Willem H Ouwehand , Javier Corral , Alba Sanchis-Juan , Auteur inconnu

Beyond the exome: what's next in diagnostic testing for Mendelian conditions.

ArXiv
Avec: Monica H Wojcik , Chloe M Reuter , Shruti Marwaha , Medhat Mahmoud , Michael H Duyzend , Hayk Barseghyan , Bo Yuan , Philip M Boone , Emily E Groopman , Emmanuèle C Délot , Deepti Jain , Alba Sanchis-Juan , Auteur inconnu , Lea M Starita , Michael Talkowski , Stephen B Montgomery , Michael J Bamshad , Jessica X Chong , Matthew T Wheeler , Seth I Berger , Anne O'Donnell-Luria , Fritz J Sedlazeck , Danny E Miller

Narrowing the diagnostic gap: Genomes, episignatures, long-read sequencing, and health economic analyses in an exome-negative intellectual disability cohort.

Genetics in medicine : official journal of the American College of Medical Genetics
Avec: Kerith-Rae Dias , Rupendra Shrestha , Deborah Schofield , Carey-Anne Evans , Emily O'Heir , Ying Zhu , Futao Zhang , Krystle Standen , Ben Weisburd , Sarah L Stenton , Alba Sanchis-Juan , Harrison Brand , Michael E Talkowski , Alan Ma , Sondy Ghedia , Meredith Wilson , Sarah A Sandaradura , Janine Smith , Benjamin Kamien , Anne Turner , Madhura Bakshi , Lesley C Adès , David Mowat , Matthew Regan , George McGillivray , Ravi Savarirayan , Susan M White , Tiong Yang Tan , Zornitza Stark , Natasha J Brown , Luis A Pérez-Jurado , Emma Krzesinski , Matthew F Hunter , Lauren Akesson , Andrew Paul Fennell , Alison Yeung , Tiffany Boughtwood , Lisa J Ewans , Jennifer Kerkhof , Christopher Lucas , Louise Carey , Hugh French , Melissa Rapadas , Igor Stevanovski , Ira W Deveson , Corrina Cliffe , George Elakis , Edwin P Kirk , Tracy Dudding-Byth , Janice Fletcher , Rebecca Walsh , Mark A Corbett , Thessa Kroes , Jozef Gecz , Cliff Meldrum , Simon Cliffe , Meg Wall , Sebastian Lunke , Kathryn North , David J Amor , Michael Field , Bekim Sadikovic , Michael F Buckley , Anne O'Donnell-Luria , Tony Roscioli

Genome Sequencing for Diagnosing Rare Diseases.

The New England journal of medicine
Avec: Monica H Wojcik , Gabrielle Lemire , Eva Berger , Maha S Zaki , Mariel Wissmann , Wathone Win , Susan M White , Ben Weisburd , Dagmar Wieczorek , Leigh B Waddell , Jeffrey M Verboon , Grace E VanNoy , Ana Töpf , Tiong Yang Tan , Steffen Syrbe , Vincent Strehlow , Volker Straub , Sarah L Stenton , Hana Snow , Moriel Singer-Berk , Josh Silver , Shirlee Shril , Eleanor G Seaby , Ronen Schneider , Vijay G Sankaran , Alba Sanchis-Juan , Kathryn A Russell , Karit Reinson , Gianina Ravenscroft , Maximilian Radtke , Denny Popp , Tilman Polster , Konrad Platzer , Eric A Pierce , Emily M Place , Sander Pajusalu , Lynn Pais , Katrin Õunap , Ikeoluwa Osei-Owusu , Henry Opperman , Volkan Okur , Kaisa Teele Oja , Melanie O'Leary , Emily O'Heir , Chantal F Morel , Andreas Merkenschlager , Rhett G Marchant , Brian E Mangilog , Jill A Madden , Daniel MacArthur , Alysia Lovgren , Jordan P Lerner-Ellis , Jasmine Lin , Nigel Laing , Friedhelm Hildebrandt , Julia Hentschel , Emily Groopman , Julia Goodrich , Joseph G Gleeson , Roula Ghaoui , Casie A Genetti , Janina Gburek-Augustat , Hanna T Gazda , Vijay S Ganesh , Mythily Ganapathi , Lyndon Gallacher , Jack M Fu , Emily Evangelista , Eleina England , Sandra Donkervoort , Stephanie DiTroia , Sandra T Cooper , Wendy K Chung , John Christodoulou , Katherine R Chao , Liam D Cato , Kinga M Bujakowska , Samantha J Bryen , Harrison Brand , Carsten G Bönnemann , Alan H Beggs , Samantha M Baxter , Tobias Bartolomaeus , Pankaj B Agrawal , Michael Talkowski , Christina Austin-Tse , Rami Abou Jamra , Heidi L Rehm , Anne O'Donnell-Luria

Rare Genetic Variation in 135 Families With Family History Suggestive of X-Linked Intellectual Disability.

Frontiers in genetics
Avec: Alba Sanchis-Juan , Christina Bitsara , Kay Yi Low , Keren J Carss , Courtney E French , Olivera Spasic-Boskovic , Joanna Jarvis , Michael Field , F Lucy Raymond , Detelina Grozeva

Whole genome sequencing reveals that genetic conditions are frequent in intensively ill children.

Intensive care medicine
Avec: Courtney E French , Isabelle Delon , Helen Dolling , Alba Sanchis-Juan , Olga Shamardina , Karyn Mégy , Stephen Abbs , Topun Austin , Sarah Bowdin , Ricardo G Branco , Helen Firth , Auteur inconnu , Auteur inconnu , David H Rowitch , F Lucy Raymond

Neurology
Avec: Sara Zagaglia , Dora Steel , S Krithika , Laura Hernandez-Hernandez , Helena Martins Custodio , Kathleen M Gorman , Aikaterini Vezyroglou , Rikke S Møller , Mary D King , Trine Bjørg Hammer , Robert Spaull , Walid Fazeli , Tobias Bartolomaeus , Diane Doummar , Boris Keren , Cyril Mignot , Nathalie Bednarek , J Helen Cross , Andrew A Mallick , Alba Sanchis-Juan , Anna Basu , F Lucy Raymond , Bryan J Lynch , Anirban Majumdar , Hannah Stamberger , Sarah Weckhuysen , Sanjay M Sisodiya , Manju A Kurian

Phenotype and genetic analysis of data collected within the first year of NeuroDev.

Neuron
Avec: Patricia Kipkemoi , Heesu Ally Kim , Bjorn Christ , Emily O'Heir , Jake Allen , Christina Austin-Tse , Samantha Baxter , Harrison Brand , Sam Bryant , Nick Buser , Victoria de Menil , Emma Eastman , Serini Murugasen , Alice Galvin , Martha Kombe , Alfred Ngombo , Beatrice Mkubwa , Paul Mwangi , Collins Kipkoech , Alysia Lovgren , Daniel G MacArthur , Brigitte Melly , Katini Mwangasha , Alicia Martin , Lethukuthula L Nkambule , Alba Sanchis-Juan , Moriel Singer-Berk , Michael E Talkowski , Grace VanNoy , Celia van der Merwe , Auteur inconnu , Charles Newton , Anne O'Donnell-Luria , Amina Abubakar , Kirsten A Donald , Elise B Robinson

Rare germline structural variants increase risk for pediatric solid tumors.

bioRxiv : the preprint server for biology
Avec: Riaz Gillani , Ryan L Collins , Jett Crowdis , Amanda Garza , Jill K Jones , Mark Walker , Alba Sanchis-Juan , Chris Whelan , Emma Pierce-Hoffman , Michael Talkowski , Harrison Brand , Kevin Haigis , Jaclyn LoPiccolo , Saud H AlDubayan , Alexander Gusev , Brian D Crompton , Katie A Janeway , Eliezer M Van Allen

A cell type-aware framework for nominating non-coding variants in Mendelian regulatory disorders.

Nature communications
Avec: Arthur S Lee , Lauren J Ayers , Michael Kosicki , Wai-Man Chan , Lydia N Fozo , Brandon M Pratt , Thomas E Collins , Boxun Zhao , Matthew F Rose , Alba Sanchis-Juan , Jack M Fu , Isaac Wong , Xuefang Zhao , Alan P Tenney , Cassia Lee , Kristen M Laricchia , Brenda J Barry , Victoria R Bradford , Julie A Jurgens , Eleina M England , Monkol Lek , Daniel G MacArthur , Eunjung Alice Lee , Michael E Talkowski , Harrison Brand , Len A Pennacchio , Elizabeth C Engle

Re-annotation of 191 developmental and epileptic encephalopathy-associated genes unmasks de novo variants in

NPJ genomic medicine
Avec: Charles A Steward , Jolien Roovers , Marie-Marthe Suner , Jose M Gonzalez , Barbara Uszczynska-Ratajczak , Dmitri Pervouchine , Stephen Fitzgerald , Margarida Viola , Hannah Stamberger , Fadi F Hamdan , Berten Ceulemans , Patricia Leroy , Caroline Nava , Anne Lepine , Electra Tapanari , Don Keiller , Stephen Abbs , Alba Sanchis-Juan , Detelina Grozeva , Anthony S Rogers , Mark Diekhans , Roderic Guigó , Robert Petryszak , Berge A Minassian , Gianpiero Cavalleri , Dimitrios Vitsios , Slavé Petrovski , Jennifer Harrow , Paul Flicek , F Lucy Raymond , Nicholas J Lench , Peter De Jonghe , Jonathan M Mudge , Sarah Weckhuysen , Sanjay M Sisodiya , Adam Frankish

Bi-allelic Loss-of-Function CACNA1B Mutations in Progressive Epilepsy-Dyskinesia.

American journal of human genetics
Avec: Kathleen M Gorman , Esther Meyer , Detelina Grozeva , Egidio Spinelli , Amy McTague , Alba Sanchis-Juan , Keren J Carss , Emily Bryant , Adi Reich , Amy L Schneider , Ronit M Pressler , Michael A Simpson , Geoff D Debelle , Evangeline Wassmer , Jenny Morton , Diana Sieciechowicz , Eric Jan-Kamsteeg , Alex R Paciorkowski , Mary D King , J Helen Cross , Annapurna Poduri , Heather C Mefford , Ingrid E Scheffer , Tobias B Haack , Gary McCullagh , Auteur inconnu , Auteur inconnu , Auteur inconnu , John J Millichap , Gemma L Carvill , Jill Clayton-Smith , Eamonn R Maher , F Lucy Raymond , Manju A Kurian

ExpansionHunter: a sequence-graph-based tool to analyze variation in short tandem repeat regions.

Bioinformatics (Oxford, England)
Avec: Egor Dolzhenko , Viraj Deshpande , Felix Schlesinger , Peter Krusche , Roman Petrovski , Sai Chen , Dorothea Emig-Agius , Andrew Gross , Giuseppe Narzisi , Brett Bowman , Konrad Scheffler , Joke J F A van Vugt , Courtney French , Alba Sanchis-Juan , Kristina Ibáñez , Arianna Tucci , Bryan R Lajoie , Jan H Veldink , F Lucy Raymond , Ryan J Taft , David R Bentley , Michael A Eberle

Structural mapping of GABRB3 variants reveals genotype-phenotype correlations.

Genetics in medicine : official journal of the American College of Medical Genetics
Avec: Katrine M Johannesen , Sumaiya Iqbal , Milena Guazzi , Nazanin A Mohammadi , Eduardo Pérez-Palma , Elise Schaefer , Anne De Saint Martin , Marie Therese Abiwarde , Amy McTague , Roser Pons , Amelie Piton , Manju A Kurian , Gautam Ambegaonkar , Helen Firth , Alba Sanchis-Juan , Marie Deprez , Katrien Jansen , Liesbeth De Waele , Eva H Briltra , Nienke E Verbeek , Marjan van Kempen , Walid Fazeli , Pasquale Striano , Federico Zara , Gerhard Visser , Hilde M H Braakman , Martin Haeusler , Miriam Elbracht , Ulvi Vaher , Thomas Smol , Johannes R Lemke , Konrad Platzer , Joanna Kennedy , Karl Martin Klein , Ping Yee Billie Au , Kimberly Smyth , Julie Kaplan , Morgan Thomas , Malin K Dewenter , Argirios Dinopoulos , Arthur J Campbell , Dennis Lal , Damien Lederer , Vivian W Y Liao , Philip K Ahring , Rikke S Møller , Elena Gardella

Molecular Dissection of Structural Variations Involved in Antithrombin Deficiency.

The Journal of molecular diagnostics : JMD
Avec: Belén de la Morena-Barrio , Christelle Orlando , Alba Sanchis-Juan , Juan L García , José Padilla , María E de la Morena-Barrio , Marija Puruunen , Katrien Stouffs , Rosa Cifuentes , Nina Borràs , Carlos Bravo-Pérez , Rocio Benito , Javier Cuenca-Guardiola , Vicente Vicente , Francisco Vidal , Jesús M Hernández-Rivas , Willem Ouwehand , Kristin Jochmans , Javier Corral

GATK-gCNV enables the discovery of rare copy number variants from exome sequencing data.

Nature genetics
Avec: Mehrtash Babadi , Jack M Fu , Samuel K Lee , Andrey N Smirnov , Laura D Gauthier , Mark Walker , David I Benjamin , Xuefang Zhao , Konrad J Karczewski , Isaac Wong , Ryan L Collins , Alba Sanchis-Juan , Harrison Brand , Eric Banks , Michael E Talkowski

Beyond the exome: What's next in diagnostic testing for Mendelian conditions.

American journal of human genetics
Avec: Monica H Wojcik , Chloe M Reuter , Shruti Marwaha , Medhat Mahmoud , Michael H Duyzend , Hayk Barseghyan , Bo Yuan , Philip M Boone , Emily E Groopman , Emmanuèle C Délot , Deepti Jain , Alba Sanchis-Juan , Auteur inconnu , Lea M Starita , Michael Talkowski , Stephen B Montgomery , Michael J Bamshad , Jessica X Chong , Matthew T Wheeler , Seth I Berger , Anne O'Donnell-Luria , Fritz J Sedlazeck , Danny E Miller

Rare variants found in clinical gene panels illuminate the genetic and allelic architecture of orofacial clefting.

Genetics in medicine : official journal of the American College of Medical Genetics
Avec: Kimberly K Diaz Perez , Sarah W Curtis , Alba Sanchis-Juan , Xuefang Zhao , Taylor Head , Samantha Ho , Bridget Carter , Toby McHenry , Madison R Bishop , Luz C Valencia-Ramirez , Claudia Restrepo , Jacqueline T Hecht , Lina M Uribe , George Wehby , Seth M Weinberg , Terri H Beaty , Jeffrey C Murray , Eleanor Feingold , Mary L Marazita , David J Cutler , Michael P Epstein , Harrison Brand , Elizabeth J Leslie

Expanding the genetics and phenotypes of ocular congenital cranial dysinnervation disorders.

medRxiv : the preprint server for health sciences
Avec: Julie A Jurgens , Brenda J Barry , Wai-Man Chan , Sarah MacKinnon , Mary C Whitman , Paola M Matos Ruiz , Brandon M Pratt , Eleina M England , Lynn Pais , Gabrielle Lemire , Emily Groopman , Carmen Glaze , Kathryn A Russell , Moriel Singer-Berk , Silvio Alessandro Di Gioia , Arthur S Lee , Caroline Andrews , Sherin Shaaban , Megan M Wirth , Sarah Bekele , Melissa Toffoloni , Victoria R Bradford , Emma E Foster , Lindsay Berube , Cristina Rivera-Quiles , Fiona M Mensching , Alba Sanchis-Juan , Jack M Fu , Isaac Wong , Xuefang Zhao , Michael W Wilson , Ben Weisburd , Monkol Lek , Auteur inconnu , Harrison Brand , Michael E Talkowski , Daniel G MacArthur , Anne O'Donnell-Luria , Caroline D Robson , David G Hunter , Elizabeth C Engle

Multiple GYPB gene deletions associated with the U- phenotype in those of African ancestry.

Transfusion
Avec: William J Lane , Nicholas S Gleadall , Judith Aeschlimann , Sunitha Vege , Alba Sanchis-Juan , Jonathan Stephens , Jensyn Cone Sullivan , Helen H Mah , Maria Aguad , Robin Smeland-Wagman , Matthew S Lebo , Prathik K Vijay Kumar , Richard M Kaufman , Robert C Green , Willem H Ouwehand , Connie M Westhoff

Spinal muscular atrophy diagnosis and carrier screening from genome sequencing data.

Genetics in medicine : official journal of the American College of Medical Genetics
Avec: Xiao Chen , Alba Sanchis-Juan , Courtney E French , Andrew J Connell , Isabelle Delon , Zoya Kingsbury , Aditi Chawla , Aaron L Halpern , Ryan J Taft , Auteur inconnu , David R Bentley , Matthew E R Butchbach , F Lucy Raymond , Michael A Eberle

MitoPhen database: a human phenotype ontology-based approach to identify mitochondrial DNA diseases.

Nucleic acids research
Avec: Thiloka E Ratnaike , Daniel Greene , Wei Wei , Alba Sanchis-Juan , Katherine R Schon , Jelle van den Ameele , Lucy Raymond , Rita Horvath , Ernest Turro , Patrick F Chinnery

De novo variants in SNAP25 cause an early-onset developmental and epileptic encephalopathy.

Genetics in medicine : official journal of the American College of Medical Genetics
Avec: Chiara Klöckner , Heinrich Sticht , Pia Zacher , Bernt Popp , Holly E Babcock , Dewi P Bakker , Katy Barwick , Michaela V Bonfert , Carsten G Bönnemann , Eva H Brilstra , Auteur inconnu , Wendy K Chung , Angus J Clarke , Patrick Devine , Sandra Donkervoort , Jamie L Fraser , Jennifer Friedman , Alyssa Gates , Jamal Ghoumid , Emma Hobson , Gabriella Horvath , Jennifer Keller-Ramey , Boris Keren , Manju A Kurian , Virgina Lee , Kathleen A Leppig , Johan Lundgren , Marie T McDonald , Heather M McLaughlin , Amy McTague , Heather C Mefford , Cyril Mignot , Mohamad A Mikati , Caroline Nava , F Lucy Raymond , Julian R Sampson , Alba Sanchis-Juan , Vandana Shashi , Joseph T C Shieh , Marwan Shinawi , Anne Slavotinek , Tommy Stödberg , Nicholas Stong , Jennifer A Sullivan , Ashley C Taylor , Tomi L Toler , Marie-José van den Boogaard , Saskia N van der Crabben , Koen L I van Gassen , Richard H van Jaarsveld , Jessica Van Ziffle , Alexandrea F Wadley , Matias Wagner , Kristen Wigby , Saskia B Wortmann , Yuri A Zarate , Rikke S Møller , Johannes R Lemke , Konrad Platzer

Abundancy of polymorphic CGG repeats in the human genome suggest a broad involvement in neurological disease.

Scientific reports
Avec: Dale J Annear , Geert Vandeweyer , Ellen Elinck , Alba Sanchis-Juan , Courtney E French , Lucy Raymond , R Frank Kooy

Unique Capabilities of Genome Sequencing for Rare Disease Diagnosis.

medRxiv : the preprint server for health sciences
Avec: Monica H Wojcik , Gabrielle Lemire , Maha S Zaki , Mariel Wissman , Wathone Win , Sue White , Ben Weisburd , Leigh B Waddell , Jeffrey M Verboon , Grace E VanNoy , Ana Töpf , Tiong Yang Tan , Volker Straub , Sarah L Stenton , Hana Snow , Moriel Singer-Berk , Josh Silver , Shirlee Shril , Eleanor G Seaby , Ronen Schneider , Vijay G Sankaran , Alba Sanchis-Juan , Kathryn A Russell , Karit Reinson , Gianina Ravenscroft , Eric A Pierce , Emily M Place , Sander Pajusalu , Lynn Pais , Katrin Õunap , Ikeoluwa Osei-Owusu , Volkan Okur , Kaisa Teele Oja , Melanie O'Leary , Emily O'Heir , Chantal Morel , Rhett G Marchant , Brian E Mangilog , Jill A Madden , Daniel MacArthur , Alysia Lovgren , Jordan P Lerner-Ellis , Jasmine Lin , Nigel Laing , Friedhelm Hildebrandt , Emily Groopman , Julia Goodrich , Joseph G Gleeson , Roula Ghaoui , Casie A Genetti , Hanna T Gazda , Vijay S Ganesh , Mythily Ganapathy , Lyndon Gallacher , Jack Fu , Emily Evangelista , Eleina England , Sandra Donkervoort , Stephanie DiTroia , Sandra T Cooper , Wendy K Chung , John Christodoulou , Katherine R Chao , Liam D Cato , Kinga M Bujakowska , Samantha J Bryen , Harrison Brand , Carsten Bonnemann , Alan H Beggs , Samantha M Baxter , Pankaj B Agrawal , Michael Talkowski , Chrissy Austin-Tse , Heidi L Rehm , Anne O'Donnell-Luria

Improvement of large copy number variant detection by whole genome nanopore sequencing.

Journal of advanced research
Avec: Javier Cuenca-Guardiola , Belén de la Morena-Barrio , Juan L García , Alba Sanchis-Juan , Javier Corral , Jesualdo T Fernández-Breis

Mapping the Constrained Coding Regions in the Human Genome to Their Corresponding Proteins.

Journal of molecular biology
Avec: Marcia A Hasenahuer , Alba Sanchis-Juan , Roman A Laskowski , James A Baker , James D Stephenson , Christine A Orengo , F Lucy Raymond , Janet M Thornton

Expanding the genetics and phenotypes of ocular congenital cranial dysinnervation disorders.

Genetics in medicine : official journal of the American College of Medical Genetics
Avec: Julie A Jurgens , Brenda J Barry , Wai-Man Chan , Sarah MacKinnon , Mary C Whitman , Paola M Matos Ruiz , Brandon M Pratt , Eleina M England , Lynn Pais , Gabrielle Lemire , Emily Groopman , Carmen Glaze , Kathryn A Russell , Moriel Singer-Berk , Silvio Alessandro Di Gioia , Arthur S Lee , Caroline Andrews , Sherin Shaaban , Megan M Wirth , Sarah Bekele , Melissa Toffoloni , Victoria R Bradford , Emma E Foster , Lindsay Berube , Cristina Rivera-Quiles , Fiona M Mensching , Alba Sanchis-Juan , Jack M Fu , Isaac Wong , Xuefang Zhao , Michael W Wilson , Ben Weisburd , Monkol Lek , Auteur inconnu , Harrison Brand , Michael E Talkowski , Daniel G MacArthur , Anne O'Donnell-Luria , Caroline D Robson , David G Hunter , Elizabeth C Engle

KMT2B-related disorders: expansion of the phenotypic spectrum and long-term efficacy of deep brain stimulation.

Brain : a journal of neurology
Avec: Laura Cif , Diane Demailly , Jean-Pierre Lin , Katy E Barwick , Mario Sa , Lucia Abela , Sony Malhotra , Wui K Chong , Dora Steel , Alba Sanchis-Juan , Adeline Ngoh , Natalie Trump , Esther Meyer , Xavier Vasques , Julia Rankin , Meredith W Allain , Carolyn D Applegate , Sanaz Attaripour Isfahani , Julien Baleine , Bettina Balint , Jennifer A Bassetti , Emma L Baple , Kailash P Bhatia , Catherine Blanchet , Lydie Burglen , Gilles Cambonie , Emilie Chan Seng , Sandra Chantot Bastaraud , Fabienne Cyprien , Christine Coubes , Vincent d'Hardemare , Auteur inconnu , Asif Doja , Nathalie Dorison , Diane Doummar , Marisela E Dy-Hollins , Ellyn Farrelly , David R Fitzpatrick , Conor Fearon , Elizabeth L Fieg , Brent L Fogel , Eva B Forman , Rachel G Fox , Auteur inconnu , William A Gahl , Serena Galosi , Victoria Gonzalez , Tracey D Graves , Allison Gregory , Mark Hallett , Harutomo Hasegawa , Susan J Hayflick , Ada Hamosh , Marie Hully , Sandra Jansen , Suh Young Jeong , Joel B Krier , Sidney Krystal , Kishore R Kumar , Chloé Laurencin , Hane Lee , Gaetan Lesca , Laurence Lion François , Timothy Lynch , Neil Mahant , Julian A Martinez-Agosto , Christophe Milesi , Kelly A Mills , Michel Mondain , Hugo Morales-Briceno , Auteur inconnu , John R Ostergaard , Swasti Pal , Juan C Pallais , Frédérique Pavillard , Pierre-Francois Perrigault , Andrea K Petersen , Gustavo Polo , Gaetan Poulen , Tuula Rinne , Thomas Roujeau , Caleb Rogers , Agathe Roubertie , Michelle Sahagian , Elise Schaefer , Laila Selim , Richard Selway , Nutan Sharma , Rebecca Signer , Ariane G Soldatos , David A Stevenson , Fiona Stewart , Michel Tchan , Auteur inconnu , Ishwar C Verma , Bert B A de Vries , Jenny L Wilson , Derek A Wong , Raghda Zaitoun , Dolly Zhen , Anna Znaczko , Russell C Dale , Claudio M de Gusmão , Jennifer Friedman , Victor S C Fung , Mary D King , Shekeeb S Mohammad , Luis Rohena , Jeff L Waugh , Camilo Toro , F Lucy Raymond , Maya Topf , Philippe Coubes , Kathleen M Gorman , Manju A Kurian

De Novo VPS4A Mutations Cause Multisystem Disease with Abnormal Neurodevelopment.

American journal of human genetics
Avec: Catherine Rodger , Elisabetta Flex , Rachel J Allison , Alba Sanchis-Juan , Marcia A Hasenahuer , Serena Cecchetti , Courtney E French , James R Edgar , Giovanna Carpentieri , Andrea Ciolfi , Francesca Pantaleoni , Alessandro Bruselles , Auteur inconnu , Roberta Onesimo , Giuseppe Zampino , Francesca Marcon , Ester Siniscalchi , Melissa Lees , Deepa Krishnakumar , Emma McCann , Dragana Yosifova , Joanna Jarvis , Michael C Kruer , Warren Marks , Jonathan Campbell , Louise E Allen , Stefano Gustincich , F Lucy Raymond , Marco Tartaglia , Evan Reid

Nuclear-mitochondrial DNA segments resemble paternally inherited mitochondrial DNA in humans.

Nature communications
Avec: Wei Wei , Alistair T Pagnamenta , Nicholas Gleadall , Alba Sanchis-Juan , Jonathan Stephens , John Broxholme , Salih Tuna , Christopher A Odhams , Auteur inconnu , Auteur inconnu , Carl Fratter , Ernest Turro , Mark J Caulfield , Jenny C Taylor , Shamima Rahman , Patrick F Chinnery

Structural analysis of pathogenic missense mutations in GABRA2 and identification of a novel de novo variant in the desensitization gate.

Molecular genetics & genomic medicine
Avec: Alba Sanchis-Juan , Marcia A Hasenahuer , James A Baker , Amy McTague , Katy Barwick , Manju A Kurian , Sofia T Duarte , Auteur inconnu , Keren J Carss , Janet Thornton , F Lucy Raymond

Whole-genome sequencing of a sporadic primary immunodeficiency cohort.

Nature
Avec: James E D Thaventhiran , Hana Lango Allen , Oliver S Burren , William Rae , Daniel Greene , Emily Staples , Zinan Zhang , James H R Farmery , Ilenia Simeoni , Elizabeth Rivers , Jesmeen Maimaris , Christopher J Penkett , Jonathan Stephens , Sri V V Deevi , Alba Sanchis-Juan , Nicholas S Gleadall , Moira J Thomas , Ravishankar B Sargur , Pavels Gordins , Helen E Baxendale , Matthew Brown , Paul Tuijnenburg , Austen Worth , Steven Hanson , Rachel J Linger , Matthew S Buckland , Paula J Rayner-Matthews , Kimberly C Gilmour , Crina Samarghitean , Suranjith L Seneviratne , David M Sansom , Andy G Lynch , Karyn Megy , Eva Ellinghaus , David Ellinghaus , Silje F Jorgensen , Tom H Karlsen , Kathleen E Stirrups , Antony J Cutler , Dinakantha S Kumararatne , Anita Chandra , J David M Edgar , Archana Herwadkar , Nichola Cooper , Sofia Grigoriadou , Aarnoud P Huissoon , Sarah Goddard , Stephen Jolles , Catharina Schuetz , Felix Boschann , Auteur inconnu , Paul A Lyons , Matthew E Hurles , Sinisa Savic , Siobhan O Burns , Taco W Kuijpers , Ernest Turro , Willem H Ouwehand , Adrian J Thrasher , Kenneth G C Smith

Author Correction: Nuclear-mitochondrial DNA segments resemble paternally inherited mitochondrial DNA in humans.

Nature communications
Avec: Wei Wei , Alistair T Pagnamenta , Nicholas Gleadall , Alba Sanchis-Juan , Jonathan Stephens , John Broxholme , Salih Tuna , Christopher A Odhams , Auteur inconnu , Auteur inconnu , Carl Fratter , Ernest Turro , Mark J Caulfield , Jenny C Taylor , Shamima Rahman , Patrick F Chinnery

Refinements and considerations for trio whole-genome sequence analysis when investigating Mendelian diseases presenting in early childhood.

HGG advances
Avec: Courtney E French , Helen Dolling , Karyn Mégy , Alba Sanchis-Juan , Ajay Kumar , Isabelle Delon , Matthew Wakeling , Lucy Mallin , Shruti Agrawal , Topun Austin , Florence Walston , Soo-Mi Park , Alasdair Parker , Chinthika Piyasena , Kimberley Bradbury , Auteur inconnu , Sian Ellard , David H Rowitch , F Lucy Raymond

Genome sequencing and comprehensive rare-variant analysis of 465 families with neurodevelopmental disorders.

American journal of human genetics
Avec: Alba Sanchis-Juan , Karyn Megy , Jonathan Stephens , Camila Armirola Ricaurte , Eleanor Dewhurst , Kayyi Low , Courtney E French , Detelina Grozeva , Kathleen Stirrups , Marie Erwood , Amy McTague , Christopher J Penkett , Olga Shamardina , Salih Tuna , Louise C Daugherty , Nicholas Gleadall , Sofia T Duarte , Antonio Hedrera-Fernández , Julie Vogt , Gautam Ambegaonkar , Manali Chitre , Dragana Josifova , Manju A Kurian , Alasdair Parker , Julia Rankin , Evan Reid , Emma Wakeling , Evangeline Wassmer , C Geoffrey Woods , Auteur inconnu , F Lucy Raymond , Keren J Carss

Exome copy number variant detection, analysis and classification in a large cohort of families with undiagnosed rare genetic disease.

medRxiv : the preprint server for health sciences
Avec: Gabrielle Lemire , Alba Sanchis-Juan , Kathryn Russell , Samantha Baxter , Katherine R Chao , Moriel Singer-Berk , Emily Groopman , Isaac Wong , Eleina England , Julia Goodrich , Lynn Pais , Christina Austin-Tse , Stephanie DiTroia , Emily O'Heir , Vijay S Ganesh , Monica H Wojcik , Emily Evangelista , Hana Snow , Ikeoluwa Osei-Owusu , Jack Fu , Mugdha Singh , Yulia Mostovoy , Steve Huang , Kiran Garimella , Samantha L Kirkham , Jennifer E Neil , Diane D Shao , Christopher A Walsh , Emanuela Argili , Carolyn Le , Elliott H Sherr , Joseph Gleeson , Shirlee Shril , Ronen Schneider , Friedhelm Hildebrandt , Vijay G Sankaran , Jill A Madden , Casie A Genetti , Alan H Beggs , Pankaj B Agrawal , Kinga M Bujakowska , Emily Place , Eric A Pierce , Sandra Donkervoort , Carsten G Bönnemann , Lyndon Gallacher , Zornitza Stark , Tiong Tan , Susan M White , Ana Töpf , Volker Straub , Mark D Fleming , Martin R Pollak , Katrin Õunap , Sander Pajusalu , Kirsten A Donald , Zandre Bruwer , Gianina Ravenscroft , Nigel G Laing , Daniel G MacArthur , Heidi L Rehm , Michael E Talkowski , Harrison Brand , Anne O'Donnell-Luria

A cell type-aware framework for nominating non-coding variants in Mendelian regulatory disorders.

medRxiv : the preprint server for health sciences
Avec: Arthur S Lee , Lauren J Ayers , Michael Kosicki , Wai-Man Chan , Lydia N Fozo , Brandon M Pratt , Thomas E Collins , Boxun Zhao , Matthew F Rose , Alba Sanchis-Juan , Jack M Fu , Isaac Wong , Xuefang Zhao , Alan P Tenney , Cassia Lee , Kristen M Laricchia , Brenda J Barry , Victoria R Bradford , Monkol Lek , Daniel G MacArthur , Eunjung Alice Lee , Michael E Talkowski , Harrison Brand , Len A Pennacchio , Elizabeth C Engle

Exome copy number variant detection, analysis, and classification in a large cohort of families with undiagnosed rare genetic disease.

American journal of human genetics
Avec: Gabrielle Lemire , Alba Sanchis-Juan , Kathryn Russell , Samantha Baxter , Katherine R Chao , Moriel Singer-Berk , Emily Groopman , Isaac Wong , Eleina England , Julia Goodrich , Lynn Pais , Christina Austin-Tse , Stephanie DiTroia , Emily O'Heir , Vijay S Ganesh , Monica H Wojcik , Emily Evangelista , Hana Snow , Ikeoluwa Osei-Owusu , Jack Fu , Mugdha Singh , Yulia Mostovoy , Steve Huang , Kiran Garimella , Samantha L Kirkham , Jennifer E Neil , Diane D Shao , Christopher A Walsh , Emanuela Argilli , Carolyn Le , Elliott H Sherr , Joseph G Gleeson , Shirlee Shril , Ronen Schneider , Friedhelm Hildebrandt , Vijay G Sankaran , Jill A Madden , Casie A Genetti , Alan H Beggs , Pankaj B Agrawal , Kinga M Bujakowska , Emily Place , Eric A Pierce , Sandra Donkervoort , Carsten G Bönnemann , Lyndon Gallacher , Zornitza Stark , Tiong Yang Tan , Susan M White , Ana Töpf , Volker Straub , Mark D Fleming , Martin R Pollak , Katrin Õunap , Sander Pajusalu , Kirsten A Donald , Zandre Bruwer , Gianina Ravenscroft , Nigel G Laing , Daniel G MacArthur , Heidi L Rehm , Michael E Talkowski , Harrison Brand , Anne O'Donnell-Luria

Réseau de co-auteurs

None None 28 collaborations
F Lucy Raymond 15 collaborations
Harrison Brand 13 collaborations
Anne O'Donnell-Luria 10 collaborations
Michael E Talkowski 9 collaborations
Jonathan Stephens 8 collaborations
Moriel Singer-Berk 7 collaborations
Courtney E French 7 collaborations
Manju A Kurian 7 collaborations
Daniel G MacArthur 7 collaborations
Isaac Wong 7 collaborations
Ernest Turro 6 collaborations
Monica H Wojcik 6 collaborations
Emily O'Heir 6 collaborations
Gabrielle Lemire 6 collaborations
Lynn Pais 6 collaborations
Emily Groopman 6 collaborations
Jack M Fu 6 collaborations
Xuefang Zhao 6 collaborations
Willem H Ouwehand 5 collaborations
Michael Talkowski 5 collaborations
Ben Weisburd 5 collaborations
Sandra Donkervoort 5 collaborations
Amy McTague 5 collaborations
Karyn Megy 4 collaborations
Daniel Greene 4 collaborations
Salih Tuna 4 collaborations
Patrick F Chinnery 4 collaborations
Christopher J Penkett 4 collaborations
Nicholas Gleadall 4 collaborations
Susan M White 4 collaborations
Tiong Yang Tan 4 collaborations
Ana Töpf 4 collaborations
Volker Straub 4 collaborations
Hana Snow 4 collaborations
Shirlee Shril 4 collaborations
Ronen Schneider 4 collaborations
Vijay G Sankaran 4 collaborations
Kathryn A Russell 4 collaborations
Gianina Ravenscroft 4 collaborations
Eric A Pierce 4 collaborations
Sander Pajusalu 4 collaborations
Katrin Õunap 4 collaborations
Ikeoluwa Osei-Owusu 4 collaborations
Jill A Madden 4 collaborations
Friedhelm Hildebrandt 4 collaborations
Julia Goodrich 4 collaborations
Casie A Genetti 4 collaborations
Vijay S Ganesh 4 collaborations
Lyndon Gallacher 4 collaborations
Emily Evangelista 4 collaborations
Eleina England 4 collaborations
Stephanie DiTroia 4 collaborations
Katherine R Chao 4 collaborations
Kinga M Bujakowska 4 collaborations
Carsten G Bönnemann 4 collaborations
Alan H Beggs 4 collaborations
Pankaj B Agrawal 4 collaborations
Christina Austin-Tse 4 collaborations
Heidi L Rehm 4 collaborations
Keren J Carss 4 collaborations
Detelina Grozeva 4 collaborations
Arthur S Lee 4 collaborations
Wai-Man Chan 4 collaborations
Brandon M Pratt 4 collaborations
Brenda J Barry 4 collaborations
Victoria R Bradford 4 collaborations
Monkol Lek 4 collaborations
Elizabeth C Engle 4 collaborations
Olga Shamardina 3 collaborations
Hana Lango Allen 3 collaborations
Oliver S Burren 3 collaborations
Sri V V Deevi 3 collaborations
Mark J Caulfield 3 collaborations
Kenneth G C Smith 3 collaborations
Adrian J Thrasher 3 collaborations
David R Bentley 3 collaborations
Kathleen E Stirrups 3 collaborations
Nicholas S Gleadall 3 collaborations
Belén de la Morena-Barrio 3 collaborations
Javier Corral 3 collaborations
Sarah L Stenton 3 collaborations
Zornitza Stark 3 collaborations
Konrad Platzer 3 collaborations
Alysia Lovgren 3 collaborations
Joseph G Gleeson 3 collaborations
Wendy K Chung 3 collaborations
Isabelle Delon 3 collaborations
Kathleen M Gorman 3 collaborations
Rikke S Møller 3 collaborations
Mary D King 3 collaborations
Samantha Baxter 3 collaborations
Kirsten A Donald 3 collaborations
Julie A Jurgens 3 collaborations
Eleina M England 3 collaborations
Wei Wei 3 collaborations
Jack Fu 3 collaborations
Marcia A Hasenahuer 3 collaborations
Eamonn R Maher 2 collaborations
James E D Thaventhiran 2 collaborations
William Rae 2 collaborations
Emily Staples 2 collaborations
Zinan Zhang 2 collaborations
James H R Farmery 2 collaborations
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Elizabeth Rivers 2 collaborations
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Moira J Thomas 2 collaborations
Ravishankar B Sargur 2 collaborations
Pavels Gordins 2 collaborations
Helen E Baxendale 2 collaborations
Matthew Brown 2 collaborations
Paul Tuijnenburg 2 collaborations
Austen Worth 2 collaborations
Steven Hanson 2 collaborations
Rachel J Linger 2 collaborations
Matthew S Buckland 2 collaborations
Paula J Rayner-Matthews 2 collaborations
Kimberly C Gilmour 2 collaborations
Crina Samarghitean 2 collaborations
Suranjith L Seneviratne 2 collaborations
David M Sansom 2 collaborations
Andy G Lynch 2 collaborations
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David Ellinghaus 2 collaborations
Silje F Jorgensen 2 collaborations
Tom H Karlsen 2 collaborations
Antony J Cutler 2 collaborations
Dinakantha S Kumararatne 2 collaborations
Anita Chandra 2 collaborations
J David M Edgar 2 collaborations
Archana Herwadkar 2 collaborations
Nichola Cooper 2 collaborations
Sofia Grigoriadou 2 collaborations
Aarnoud P Huissoon 2 collaborations
Sarah Goddard 2 collaborations
Stephen Jolles 2 collaborations
Catharina Schuetz 2 collaborations
Felix Boschann 2 collaborations
Paul A Lyons 2 collaborations
Matthew E Hurles 2 collaborations
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Siobhan O Burns 2 collaborations
Taco W Kuijpers 2 collaborations
José Padilla 2 collaborations
Francisco Vidal 2 collaborations
Vicente Vicente 2 collaborations
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Medhat Mahmoud 2 collaborations
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Hayk Barseghyan 2 collaborations
Bo Yuan 2 collaborations
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Deepti Jain 2 collaborations
Lea M Starita 2 collaborations
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Jessica X Chong 2 collaborations
Matthew T Wheeler 2 collaborations
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Danny E Miller 2 collaborations
Michael Field 2 collaborations
Maha S Zaki 2 collaborations
Wathone Win 2 collaborations
Leigh B Waddell 2 collaborations
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Grace E VanNoy 2 collaborations
Josh Silver 2 collaborations
Eleanor G Seaby 2 collaborations
Karit Reinson 2 collaborations
Emily M Place 2 collaborations
Volkan Okur 2 collaborations
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Melanie O'Leary 2 collaborations
Rhett G Marchant 2 collaborations
Brian E Mangilog 2 collaborations
Daniel MacArthur 2 collaborations
Jordan P Lerner-Ellis 2 collaborations
Jasmine Lin 2 collaborations
Nigel Laing 2 collaborations
Roula Ghaoui 2 collaborations
Hanna T Gazda 2 collaborations
Sandra T Cooper 2 collaborations
John Christodoulou 2 collaborations
Liam D Cato 2 collaborations
Samantha J Bryen 2 collaborations
Samantha M Baxter 2 collaborations
Tobias Bartolomaeus 2 collaborations
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Helen Dolling 2 collaborations
Karyn Mégy 2 collaborations
Stephen Abbs 2 collaborations
Topun Austin 2 collaborations
Helen Firth 2 collaborations
David H Rowitch 2 collaborations
Dora Steel 2 collaborations
Walid Fazeli 2 collaborations
Diane Doummar 2 collaborations
Boris Keren 2 collaborations
Cyril Mignot 2 collaborations
J Helen Cross 2 collaborations
Hannah Stamberger 2 collaborations
Sarah Weckhuysen 2 collaborations
Sanjay M Sisodiya 2 collaborations
Ryan L Collins 2 collaborations
Mark Walker 2 collaborations
Lauren J Ayers 2 collaborations
Michael Kosicki 2 collaborations
Lydia N Fozo 2 collaborations
Thomas E Collins 2 collaborations
Boxun Zhao 2 collaborations
Matthew F Rose 2 collaborations
Alan P Tenney 2 collaborations
Cassia Lee 2 collaborations
Kristen M Laricchia 2 collaborations
Eunjung Alice Lee 2 collaborations
Len A Pennacchio 2 collaborations
Caroline Nava 2 collaborations
Esther Meyer 2 collaborations
Evangeline Wassmer 2 collaborations
Heather C Mefford 2 collaborations
Ryan J Taft 2 collaborations
Michael A Eberle 2 collaborations
Elise Schaefer 2 collaborations
Gautam Ambegaonkar 2 collaborations
Johannes R Lemke 2 collaborations
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Sarah Bekele 2 collaborations
Melissa Toffoloni 2 collaborations
Emma E Foster 2 collaborations
Lindsay Berube 2 collaborations
Cristina Rivera-Quiles 2 collaborations
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Michael W Wilson 2 collaborations
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David G Hunter 2 collaborations
Lucy Raymond 2 collaborations
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Jennifer Friedman 2 collaborations
James A Baker 2 collaborations
Julia Rankin 2 collaborations
Evan Reid 2 collaborations
Alistair T Pagnamenta 2 collaborations
John Broxholme 2 collaborations
Christopher A Odhams 2 collaborations
Carl Fratter 2 collaborations
Jenny C Taylor 2 collaborations
Shamima Rahman 2 collaborations
Sofia T Duarte 2 collaborations
Alasdair Parker 2 collaborations
Kathryn Russell 2 collaborations
Mugdha Singh 2 collaborations
Yulia Mostovoy 2 collaborations
Steve Huang 2 collaborations
Kiran Garimella 2 collaborations
Samantha L Kirkham 2 collaborations
Jennifer E Neil 2 collaborations
Diane D Shao 2 collaborations
Christopher A Walsh 2 collaborations
Carolyn Le 2 collaborations
Elliott H Sherr 2 collaborations
Emily Place 2 collaborations
Mark D Fleming 2 collaborations
Martin R Pollak 2 collaborations
Zandre Bruwer 2 collaborations
Nigel G Laing 2 collaborations
William J Astle 1 collaboration
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David L Bennett 1 collaboration
Paul Calleja 1 collaboration
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Roger James 1 collaboration
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