LRG collaborators

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
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
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. 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
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 Centre for Clinical Genomics, British Columbia, Canada
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 McGill Univ. & Univ. de Montreal, Montreal General Hospital, Canada.
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
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
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
Simon Chan Centre for Clinical Genomics, Vancouver, Canada
Simon Ramsden NGRL Manchester
Sirisha Hesketh Oxford 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