Each LRG is created upon request by collaborators such as research and diagnostic laboratories, LSDB (locus specific database) curators and mutation consortia. To ensure that each LRG record contains the most appropriate reference sequences for reporting variants in the requested region, requesters are asked to provide details of other collaborators with expertise in the LRG region or field of interest.
Additional experts on each LRG region are also identified from GeneTests, NIH’s Genetic Testing Registry (GTR) and from the LSDB list maintained by Leiden University Medical Center, where available.
The LRG project is committed to creating records that are ideal for each region and fulfill the reporting needs of the community.
List of collaborators
Collaborator | Affiliation |
---|---|
Alan Beggs | Genetics Division, Children's Hospital Boston |
Alison Bybee | National Amyloidosis Centre, UCL Medical School, UK |
Amanda Dohey | Discipline of Genetics, Memorial University of Newfoundland |
Ammar Husami | Cincinnati, USA |
Amy Carr | Centre for Clinical Genomics, British Columbia, Canada |
Andrea Gaedigk | Children's Mercy Hospital, Kansas City, MO, USA |
Andrew Devereau | Manchester, UK |
Ann Walker | Centre for Cardiovascular Genetics, UCL Institute of Cardiovascular Science, London, UK |
Anna Villa | University of Tampere, Tampere, Finland |
Anne Durandy | University of Tampere, Tampere, Finland |
Arleen Auerbach | Rockefeller University, New York, USA |
Ashley Marsh | Bruce Lefroy Centre for Genetic Health Research, Murdoch Childrens Research Institute, Royal Children's Hospital, Parkville, Victoria 3052, Australia |
Astrid Out | Leiden University Medical Center, Leiden, The Netherlands |
Austin Diamond | NHS Lothian, Edinburgh, UK |
Barnaby Clark | Molecular Pathology, King's College Hospital, London, UK |
Bernard Brais | CHUM Notre-Dame Hospital Montreal, Canada |
Bernd Rautenstrauss | Medizinisch Genetisches Zentrum, München, Deutschland |
Bert Bakker | Clinical Genetics, Leiden University Medical Center, Leiden, Nederland |
Bharathi Kattamuri | NGRL Manchester |
Bradley Patay | Scripps Clinic Torrey Pines, USA |
C. C. Harris | IARC, Lyon, France |
C.I. Edvard Smith | University of Tampere, Finland |
Cheryl Ridout | GSTS Pathology, Guy's and St Thomas' Hospital, London, UK |
Chris Inglehearn | Section of Ophthalmology and Neuroscience, School of Medicine, University of Leeds, UK. |
Christel Depienne | INSERM U975 (Cricm), GH Pitié-Salpêtrière, Paris, France |
Christian Hussing | Herlev and Gentofte Hospital, Department of Clinical Biochemistry |
Christine Bellane-Chantelot | AP-HP Pitié-Salpêtrière, Paris, France |
Christopher Tan | Centre for Clinical Genomics, British Columbia, Canada |
Claudio Pignata | University of Tampere, Tampere, Finland |
Constantine Stratakis | NIH/NICHD, DEB, SEGEN |
Cyril Peter | Ichan School of Medicine at Mount Sinai, New York |
Damien Sternberg | Assistance Publique - Hopitaux de Paris, Paris, France |
David Barton | National Centre for Medical Genetics, Our Lady's Children's Hospital, Dublin, Ireland |
David Beeson | Molecular Neurosciences, Weatherall Institute of Molecular Medicine |
David Crockett | ARUP Laboratories, University of Utah School of Medicine, Salt Lake City, USA |
David FitzPatrick | MRC Human Genetics Unit, Edinburgh |
David Monk | L'Hospitalet de Llobregat, Barcelona, Spain |
Dennis Dooijes | UMC Utrecht, Netherlands |
Diane Cairns | Liverpool Women's NHS Foundation Trust, Liverpool, UK |
Dirk Roos | University of Tampere, Tampere, Finland |
Djamel Harbi | University of Alabama at Birmingham |
Dr Sandi Deans | UK NEQAS for Molecular Genetics, UK NEQAS [Edinburgh], Department of Laboratory Medicine, The Royal Infirmary of Edinburgh, Edinburgh, EH16 4SA, United Kingdom |
Dr. Carli Tops | Leiden University Medical Center, Leiden, The Netherlands |
Dr. Elsayed Abdelkreem | Sohag University Hospital, Nasser city, Sohag, Egypt |
Dr. J.P.L. Bayley | Leiden University Medical Center, Leiden, The Netherlands |
Dr. Peter E.M. Taschner | Leiden University Medical Center |
Eleanor Baker | Genomic Diagnostics Laboratory, Manchester Centre for Genomic Medicine, Saint Mary's Hospital, Manchester |
Genevieve Pont-Kingdon | ARUP Institute for Clinical and Experimental Pathology, Salt Lake City, UT, USA |
Gerard C. P. Schaafsma | Dept. of Experimental Medical Science, Lund University, Sweden |
Giampaolo Trivellin | William Harvey Research Inst., Queen Mary University of London, UK |
Gijs Santen | Department of Clinical Genetics, Leiden University Medical Center, Leiden, The Netherlands |
Gisele Bonne | Institut de Myologie, UPMC Univ. Paris |
Gordon Peters | Molecular Oncology Laboratory, London Research Institute, UK |
Gretchen Wilson | Department of General Services, Division of Consolidated Laboratory Services, Richmond, VA 23219 |
Hans Vasen | Leiden University Medical Center, Leiden, The Netherlands - InSiGHT Group |
Helen Storey | GSTS Pathology, Guy's and St Thomas' Hospital, London, UK |
Helen V. Firth | Cambridge University Hospitals, UK |
Ian Berry | Leeds Genetics Laboratory |
Ilenia Simeoni | University of Cambridge Department of Haematology & NHS Blood and Transplant |
Ingo Kurth | Institut fur Humangenetik, Universitatsklinikum Jena |
Irma Dianzani | University of Piemonte Orientale, Novara, Italy |
Isabel Hanson | MRC Human Genetics Unit, Edinburgh |
Izabela Karbassi | Athena Diagnostics, Marlborough, MA 01752, USA |
J. Francis Borgio | University Of Dammam, Dammam, Saudi Arabia |
Jacqui Beckmann | Department of Medical Genetics, University of Lausanne |
James Ware | Molecular Cardiology, Imperial College, London, UK |
Jamie Trotman | Addenbrooke's Hospital, Cambridge, UK |
Jan Soderman | Division of Medical Diagnostics, Ryhov County Hospital, Jonkoping, Sweden |
Jasper Saris | Erasmus University Medical Center, Rotterdam, The Netherlands |
Jayne Houghton | Royal Devon and Exeter NHS Foundation Trust |
Jean-Christophe Bourdon | University of Dundee, Dundee, Scotland |
Jill Slind | Centre for Clinical Genomics, Vancouver, Canada |
Jill Storry | Department of Laboratory Medicine, Division of Hematology and Transfusion Medicine, Lund University, Sweden |
Jirko Kuhnisch | Charité - Universitätsmedizin Berlin |
Johan den Dunnen | Leiden University Medical Center, Leiden, The Netherlands |
John-Paul Plazzer | The Royal Melbourne Hospital, Victoria, Australia - InSiGHT Group |
Jorge Oliveira | Instituto de Genetica Medica J. Magalhaes, Unidade de Genetica Molecular, Porto, Portugal |
Jose R. Regueiro | University of Tampere, Tampere, Finland |
Jouni Valiaho | University of Tampere, Finland |
Judy Savige | University Melbourne, Victoria, Australia |
Juha Muilu | The Institute for Molecular Medicine Finland (FIMM) and University of Helsinki, Finland |
Julie Vogt | Birmingham Women's NHS Foundation Trust, Birmingham, England |
Karyn Megy | NIHR BioResource, Department of Haematology & NHS Blood and Transplant, University of Cambridge, UK |
Katarina Pelin | University of Helsinki, Finland |
Kate Thomson | Oxford Medical Genetics Laboratories, The Churchill Hospital |
Kevin Colclough | Royal Devon and Exeter NHS Foundation Trust, UK |
Kirsten Wöllner | Institute of Human Genetics, Biomedical Centre, Bonn, Germany |
Krista Mahoney | Discipline of Genetics, Memorial University of Newfoundland |
Lampros Mavrogiannis | St James's University Hospital, Leeds, UK |
Laure Lemmens | Hôpitaux Universitaires de Genève |
Lewis Darnell | East Midlands Regional Molecular Genetics Laboratory, Nottingham University Hospitals, Nottingham, UK |
Linda Lee | Pathology North, NSW Health Pathology, Australia |
Lisa Kalman | Centers for Disease Control and Prevention (CDC), Atlanta, GA |
Lisbeth Norum Pedersen | Arhus University Hospital Skejby, Denmark |
Livia Famiglietti | Swiss Institute of Bioinformatics, Switzerland |
Liz Starks | BC Genome Sciences Centre |
Louise Daugherty | Department of Haematology University of Cambridge & NHS Blood and Transplant |
Ludwine Messiaen | Medical Genomics Laboratory, University of Alabama at Birmingham, USA |
Luigi D. Notarangelo | University of Tampere, Tampere, Finland |
László Maródi | University of Tampere, Tampere, Finland |
M. Hollstein | IARC, Lyon, France |
M. Olivier | IARC, Lyon, France |
Maartje Vogel | Wilhelmina Children's Hospital, UMC Utrecht, Utrecht, The Netherlands |
Mamata Sivagnanam | Dept. of Pediatrics, University of California San Diego, USA - InSiGHT Group |
Marc Cruts | University of Antwerp, Belgium |
Marc Ferre | University Hospital, Angers, France |
Marian Hill | Nottingham University Hospitals, Queens Medical Centre, UK |
Marielle Alders | DNA-diagnostics laboratory, Department of Clinical Genetics, Academic Medical Center, Amsterdam, The Netherlands |
Marina DiStefano | Laboratory for Molecular Medicine, Partners Personalized Medicine, Boston, USA |
Marta Korbonits | William Harvey Research Inst., Queen Mary University of London, UK |
Martina Witsch-Baumgartner | Medizinische Universitat Innsbruck, Austria |
Mary Fujiwara | Research Institute of the McGill University Health Centre |
Matthew Oakley | Molecular Pathology/Molecular Haemoglobinopathies Laboratory (MHL), King's College Hospital, London, UK |
Mauno Vihinen | University of Tampere, Finland |
Mayumi Enya | Gifu University Graduate School of Medicine |
Mette Gaustadnes | Arhus University Hospital Skejby, Denmark |
Michael Hershfield | University of Tampere, Finland |
Michael Kutsche | Gemeinschaftspraxis fur Humangenetik & Genetische Labore, Hamburg, Germany |
Michael Morris | FAMH Medical Genetics, Switzerland |
Michael Woods | Discipline of Genetics, Memorial University of Newfoundland - InSiGHT Group |
Mohammed Faruq | Institute of Genomics and Integrative Biology (CSIR), New Delhi, India |
Monique Losekoot | Clinical Genetics, Leiden University Medical Center, Leiden, The Netherlands |
Montse Olivé | Institut de Neuropatologia, IDIBELL-Hospital de Bellvitge, Barcelona, Spain |
Morris Swertz | Genomics Coordination Center, University of Groningen, The Netherlands |
Naomi Searle | Invivoscribe Technologies, San Diego, CA |
Natalie Chandler | GSTS Pathology, Guy's Hospital, London, UK |
Nazneen Rahman | Institute of Cancer Research, Sutton, Surrey, UK |
Olga O. Blumenfeld | Dept. of Biochemistry, Dept. of Cell Biology, Albert Einstein College of Medicine, New York, NY. U.S.A |
P. Hainaut | IARC, Lyon, France |
Paivi Peltomäki | University of Helsinki - InSiGHT Group |
Paola Carrera | San Raffaele Scientific Institute, Milano, Italy |
Patricia W. Mueller | Newborn Screening and Molecular Biology Branch, Centers for Disease Control and Prevention (CDC), USA |
Patrizia De Marco | Gaslini Children's Hospital, Genoa, Italy |
Paulina Sanchez | |
Peter van den Akker | Genetics Department, University Medical Center Groningen, The Netherlands |
Piers Fulton | West Midlands Regional Genetics Laboratory, Birmingham Women's and Children's NHS Foundation Trust, Birmingham, UK |
Pieter Neerincx | University Medical Center Groningen |
Pärt Peterson | University of Tampere, Finland |
R. Eeles | IARC, Lyon, France |
Rabah Ben Yaou | CHU Paris-GH La Pitié Salpêtrière-Charles Foix - Hôpital Pitié-Salpêtrière, Paris, France |
Rachel Berman | NYSDOH Wadsworth Center, Division of Genetics, Albany, NY, USA 12208 |
Ram Srinivasan | Icahn School of Medicine at Mount Sinai, NY, USA |
Raymond Dalgleish | Department of Genetics and Genome Biology, University of Leicester, UK |
Richard Lemmers | Human Genetics, Leiden University Medical Center, Nederland |
Rita Menassa | Centre de Biologie et de Pathologie Est, Bron Cedex, France |
Robert Shore | Neurogenetics Group, School of Medicine, University of St Andrews |
Rod Docking | Centre for Clinical Genomics, Vancouver, Canada |
Rolf Sijmons | Discipline of Genetics, Memorial University of Newfoundland - InSiGHT Group |
Rosario dos Santos | Instituto Nacional de Saúde Doutor Ricardo Jorge, Portugal |
Rosemary Ekong | UCL (University College London), London, UK |
Sara E. Mole | MRC Laboratory for Molecular Cell Biology, University College London, London, United Kingdom |
Sarah Leigh | Centre for Cardiovascular Genetics, University College, London, UK |
Sarah Sim | Karolinska Institutet, Stockholm, Sweden |
Sharon Whatley | Institute of Medical Genetics, University Hospital of Wales, Cardiff, UK |
Shruti Srivastava | Centre for Clinical Genomics, Vancouver, Canada |
Simon Chan | Centre for Clinical Genomics, Vancouver, Canada |
Simon Ramsden | NGRL Manchester |
Sirisha Hesketh | Oxford Medical Genetics Laboratories, Oxford University Hospitals NHS Foundation Trust, The Churchill Hospital, Oxford, UK |
Stefan Aretz | Institute of Human Genetics, Biomedical Centre, Bonn, Germany |
Stefania Battistini | Dept. of Neurological Sciences, University of Siena, Italy |
Stephan Kemp | Academic Medical Center / Emma Children's Hospital |
Steve Keeney | UKHCDO Genetics Laboratory Network |
Sue Povey | UCL (University College London), London, UK |
Sujatha Mohan | The Institute of Physical and Chemical Research (RIKEN), Japan |
Suzanne Kamel-Reid | The University Health Network and The Ontario Cancer Institute, University of Toronto, Canada |
Talita Conte | Centre de recherche CHUM Notre-Dame, Montréal, Canada |
Thierry Soussi | Universite P.M. Curie, Paris, France and Karolinska Institut, Stockholm, Sweden |
Tom Winder | Prevention Genetics |
Ulla Magdal Petersen | IFCC-IUPAC NPU Terminology |
Valeria Vasta | Seattle Children's Research Institute |
Valerie Delague | Aix-Marseille University, Marseille, France |
Veronique Tardy | Centre de Biologie et de Pathologie Est, Bron Cedex, France |
Vilma-Lotta Lehtokari | University of Helsinki, Finland |
Waltraut Friedl | Institute of Human Genetics, Biomedical Centre, Bonn, Germany |
Wim Wuyts | University and University Hospital of Antwerp, Belgium |
Win van Hul | Medical Genetics, Antwerp University Hospital, Belgium |
Yu Sun | Human & Clinical Genetics, Leiden University Medical Center, Leiden, NL |
Yves Morel | Centre de Biologie et de Pathologie Est, Bron Cedex, France |
Zahra Jalali | BC Genome Sciences Center |