作者：Kathrin Ebner (1)
Markus Feldkoetter (2)
Gema Ariceta (3)
Carsten Bergmann (4) (5)
Reinhard Buettner (6)
Anke Doyon (7)
Ali Duzova (8)
Heike Goebel (6)
Dieter Haffner (9)
Barbara Hero (1)
Bernd Hoppe (2)
Thomas Illig (10) (11)
Augustina Jankauskiene (12)
Norman Klopp (10)
Jens K枚nig (13)
Mieczyslaw Litwin (14)
Djalila Mekahli (15)
Bruno Ranchin (16)
Anja Sander (17)
Sara Testa (18)
Lutz Thorsten Weber (1)
Dorota Wicher (14)
Ayse Yuzbasioglu (19)
Klaus Zerres (20)
J枚rg D枚tsch (1)
Franz Schaefer (7)
Max Christoph Liebau (1) (21) (22)
ESCAPE Study Group
GPN Study Group

1. Department of Pediatrics ; University Hospital of Cologne ; Kerpener Str. 62 ; 50937 ; Cologne ; Germany
2. Department of Pediatrics ; University Hospital Bonn ; Adenauerallee 119 ; 53113 ; Bonn ; Germany
3. Department of Pediatric Nephrology ; University Hospital Vall d鈥橦ebron ; Pg/Vall d鈥?Hebron 119-129 ; 08034 ; Barcelona ; Spain
4. Bioscientia Center for Human Genetics ; Konrad-Adenauer-Stra脽e 17 ; 55218 ; Ingelheim ; Germany
5. Renal Division ; Department of Medicine ; University Freiburg Medical Center ; Hugstetter Stra脽e 55 ; 79106 ; Freiburg ; Germany
6. Institute of Pathology ; University Hospital of Cologne ; Kerpener Str. 62 ; 50937 ; Cologne ; Germany
7. Division of Pediatric Nephrology ; University Children鈥檚 Hospital Heidelberg ; Im Neuenheimer Feld 430 ; 69120 ; Heidelberg ; Germany
8. Department of Pediatrics ; Division of Pediatric Nephrology ; Hacettepe University Faculty of Medicine ; Sihhiye ; 06100 ; Ankara ; Turkey
9. Department of Pediatric Kidney ; Liver and Metabolic Diseases ; Hannover Medical School ; Carl-Neuberg-Strasse 1 ; 30625 ; Hannover ; Germany
10. Hannover Unified Biobank ; Hannover Medical School ; Carl-Neuberg-Strasse 1 ; 30625 ; Hannover ; Germany
11. Institute for Human Genetics ; Hannover Medical School ; Carl-Neuberg-Strasse 1 ; 30625 ; Hannover ; Germany
12. Vilnius University Hospital ; Center for Pediatrics ; Santariskiu ; 08406 ; Vilnius ; Lithuania
13. Department of General Pediatrics ; University Hospital M眉nster ; Waldeyerstr. 22 ; 48149 ; Muenster ; Germany
14. The Children鈥檚 Memorial Health Institute ; Al. Dzieci Polskich 20 ; 04-730 ; Warsaw ; Poland
15. Department of Pediatric Nephrology ; University Hospitals Leuven ; Herestrtaat 49 ; 3000 ; Leuven ; Belgium
16. Service de N茅phrologie P茅diatrique ; Hospices Civils de Lyon ; Universit茅 de Lyon ; H么pital Femme M猫re Enfant ; 69677 ; Bron ; France
17. Institute of Medical Biometry and Informatics ; University of Heidelberg ; Im Neuenheimer Feld 305 ; 69120 ; Heidelberg ; Germany
18. Pediatric Nephrology Unit ; Fondazione IRCCS Ca Granda Ospedale Maggiore Polic ; Via della Commenda 9 ; 20122 ; Milano ; Italy
19. Department of Medical Biology ; Center for Biobanking and Genomics ; Hacettepe University ; Ankara ; Turkey
20. Institute of Human Genetics ; RWTH University Hospital Aachen ; Pauwelsstrasse 30 ; 52074 ; Aachen ; Germany
21. Center for Molecular Medicine ; University Hospital of Cologne ; Robert-Koch-Str. 21 ; 50931 ; Cologne ; Germany
22. Nephrology Research Laboratory ; Department II of Internal Medicine ; University Hospital of Cologne ; CECAD Building ; Joseph-Stelzmann-Str. 26 ; 50931 ; Cologne ; Germany

关键词：ARPKD ; Ciliopathy ; PKHD1 ; Polycystic kidney disease ; Congenital hepatic fibrosis

刊名：BMC Nephrology

出版年：2015

作者：Rachel Thompson M.Chem. (1)
Louise Johnston Ph.D. (1)
Domenica Taruscio PhD ; M.D. (2)
Lucia Monaco Ph.D. (3)
Christophe B茅roud PharmD ; Ph.D. (4)
Ivo G. Gut Ph.D. (5)
Mats G. Hansson Ph.D. (6)
Peter-Bram A. 鈥檛 Hoen Ph.D. (7)
George P. Patrinos PhD (8)
Hugh Dawkins Ph.D. (9)
Monica Ensini Ph.D. (1)
Kurt Zatloukal M.D. (10)
David Koubi Ph.D. (11)
Emma Heslop M.Sc. (1)
Justin E. Paschall M.A. (12)
Manuel Posada Ph.D. (13)
Peter N. Robinson M.D. ; Ph.D. (14)
Kate Bushby M.D. ; F.R.C.P. (1)
Hanns Lochm眉ller Ph.D. ; M.D. (1)

1. Institute of Genetic Medicine ; MRC Centre for Neuromuscular Diseases ; Newcastle University ; London ; UK
2. Istituto Superiore di Sanit脿 ; Rome ; Italy
3. Fondazione Telethon ; Milan ; Italy
4. Aix Marseille Universit茅 ; INSERM ; GMGF UMR_S 910 ; 13385 ; Marseille ; France
5. Centre Nacional d鈥橝n脿lisi Gen貌mica ; Barcelona ; Spain
6. Uppsala University ; Uppsala ; Sweden
7. Leiden University Medical Centre ; Leiden ; Netherlands
8. University of Patras ; Patras ; Greece
9. Office of Population Health Genomics ; Department of Health Western Australia ; Perth ; Australia
10. Medical University of Graz ; Graz ; Austria
11. Finovatis ; Lyon ; France
12. European Molecular Biology Laboratory ; European Bioinformatics Institute (EMBL-EBI) ; Hinxton ; UK
13. Instituto de Salud Carlos III ; Instituto de Investigaci贸n de Enfermedades Raras ; CIBERER ; Madrid ; Spain
14. Institute for Medical Genetics and Human Genetics ; Charit茅-Universit盲tsmedizin ; Berlin ; Germany

关键词：genetics ; medical informatics ; databases ; clinical trials ; Electronic health records

刊名：Journal of General Internal Medicine

出版年：2014

作者：Leif Andersson (1) (2)
Alan L Archibald (3)
Cynthia D Bottema (4)
Rudiger Brauning (5)
Shane C Burgess (6)
Dave W Burt (3)
Eduardo Casas (7)
Hans H Cheng (8)
Laura Clarke (9)
Christine Couldrey (10)
Brian P Dalrymple (11)
Christine G Elsik (12)
Sylvain Foissac (13)
Elisabetta Giuffra (14)
Martien A Groenen (15)
Ben J Hayes (16) (17) (18)
LuSheng S Huang (19)
Hassan Khatib (20)
James W Kijas (11)
Heebal Kim (21)
Joan K Lunney (22)
Fiona M McCarthy (23)
John C McEwan (24)
Stephen Moore (25)
Bindu Nanduri (26)
Cedric Notredame (27)
Yniv Palti (28)
Graham S Plastow (29)
James M Reecy (30)
Gary A Rohrer (31)
Elena Sarropoulou (32)
Carl J Schmidt (33)
Jeffrey Silverstein (34)
Ross L Tellam (35)
Michele Tixier-Boichard (14)
Gwenola Tosser-Klopp (13)
Christopher K Tuggle (30)
Johanna Vilkki (36)
Stephen N White (37) (38)
Shuhong Zhao (39)
Huaijun Zhou (40)
The FAANG Consortium

1. Science for Life Laboratory Uppsala ; Department of Medical Biochemistry and Microbiology ; Uppsala University ; Uppsala ; SE 751 23 ; Sweden
2. Department of Animal Breeding and Genetics ; Swedish University of Agricultural Sciences ; Uppsala ; SE-750 07 ; Sweden
3. The Roslin Institute and Royal (Dick) School of Veterinary Studies ; University of Edinburgh ; Edinburgh ; EH25 9RG ; UK
4. School of Animal and Veterinary Sciences ; The University of Adelaide ; Roseworthy ; SA ; 5371 ; Australia
5. Invermay Agricultural Centre ; AgResearch Limited ; Mosgiel ; 9053 ; New Zealand
6. College of Agriculture and Life Sciences ; University of Arizona ; Tucson ; AZ ; 85719 ; USA
7. National Animal Disease Center ; United States Department of Agriculture ; Agricultural Research Service ; Ames ; IA ; 50010 ; USA
8. Avian Disease and Oncology Laboratory ; United States Department of Agriculture ; Agricultural Research Service ; East Lansing ; MI ; 48823 ; USA
9. European Molecular Biology Laboratory European Bioinformatics Institute ; Hinxton ; Cambridge ; CB10 1SD ; UK
10. Livestock Improvement Corporation ; Hamilton ; 3284 ; New Zealand
11. Agriculture Flagship ; Commonwealth Scientific and Industrial Research Organisation ; St Lucia ; 4067 ; Brisbane ; Australia
12. Division of Animal Sciences ; University of Missouri ; Columbia ; MO ; 65211 ; USA
13. UMR1388 G茅n茅tique ; Physiologie et Syst猫mes d鈥橢levage (GenPhySE) ; French National Institute for Agricultural Research (INRA) ; F-31326 ; Castanet-Tolosan ; France
14. UMR1313 G茅n茅tique Animale et Biologie Int茅grative (GABI) ; French National Institute for Agricultural Research (INRA) ; F-78352 ; Jouy-en-Josas ; France
15. Animal Breeding and Genomics Centre ; Wageningen University ; 6708聽PB ; Wageningen ; The Netherlands
16. Biosciences Research Division ; Department of Environment and Primary Industries Victoria ; Bundoora ; 3083 ; Australia
17. Dairy Futures Cooperative Research Centre ; Bundoora ; 3083 ; VIC ; Australia
18. La Trobe University ; Bundoora ; 3086 ; VIC ; Australia
19. Key Laboratory for Animal Biotechnology of Jiangxi Province and the Ministry of Agriculture of China ; Jiangxi Agricultural University ; Jiangxi ; 330029 ; People鈥檚 Republic of China
20. Department of Animal Sciences ; University of Wisconsin-Madison ; Madison ; WI ; 53706 ; USA
21. Department of Agricultural Biotechnology ; Seoul National University ; Seoul ; Republic of Korea
22. Animal Parasitic Diseases Laboratory ; United States Department of Agriculture ; Agricultural Research Service ; Beltsville ; MD ; 20705 ; USA
23. School of Animal and Comparative Biomedical Sciences ; University of Arizona ; Tucson ; AZ ; 85721 ; USA
24. Animal Productivity Group ; AgResearch Limited ; Mosgiel ; 9053 ; New Zealand
25. Centre for Animal Science ; Queensland Alliance for Agriculture & Food Innovation ; University of Queensland ; St Lucia ; QLD ; 4067 ; Australia
26. Department of Basic Sciences ; College of Veterinary Medicine and Institute for Genomics ; Biocomputing and Biotechnology ; Mississippi State University ; Mississippi ; MS ; 39762 ; USA
27. Comparative Bioinformatics ; Centre for Genomic Regulation (CRG) ; Dr. Aiguader 88 ; 08003 ; Barcelona ; Spain
28. National Center for Cool and Cold Water Aquaculture ; United States Department of Agriculture ; Agricultural Research Service ; Kearneysville ; WV ; 25430 ; USA
29. Livestock Gentec Centre ; Department of Agricultural ; Food and Nutritional Science ; University of Alberta ; Edmonton ; Alberta ; T6G 2C8 ; Canada
30. Department of Animal Science ; Iowa State University ; Ames ; IA ; 50011 ; USA
31. US Meat Animal Research Center ; United States Department of Agriculture ; Agricultural Research Service ; Clay Center ; NE ; 68933 ; USA
32. Institute of Marine Biology ; Biotechnology and Aquaculture ; Hellenic Centre for Marine Research ; 71003 ; Heraklion ; Greece
33. Department of Animal and Food Sciences ; University of Delaware ; Newark ; DE ; 19716 ; USA
34. Animal Production and Protection ; United States Department of Agriculture ; Agricultural Research Service Aquaculture ; Beltsville ; MD ; 20705 ; USA
35. CSIRO Agriculture ; Commonwealth Scientific and Industrial Research Organisation ; St Lucia ; 4067 ; Australia
36. Green Technology ; Natural Resources Institute Finland ; 31600 ; Jokioinen ; Finland
37. Animal Disease Research Unit ; United States Department of Agriculture ; Agricultural Research Service ; Pullman ; WA ; 99164-6630 ; USA
38. Department of Veterinary Microbiology and Pathology ; Washington State University ; Pullman ; WA ; 99164-7040 ; USA
39. Key Laboratory of Agricultural Animal Genetics ; Breeding and Reproduction of Ministry of Education of China ; Huazhong Agricultural University ; Wuhan ; Hubei ; 430070 ; People鈥檚 Republic of China
40. Department of Animal Science ; University of California ; Davis ; CA ; 95616 ; USA

刊名：Genome Biology

出版年：2015

作者：Deborah A Hall (1)
Rachael C Birch (2)
Mathieu Anheim (3) (4) (5)
Aia E J酶nch (6)
Elizabeth Pintado (7)
Joan A O鈥橩eefe (8)
Julian N Trollor (13) (2)
Glenn T Stebbins (1)
Randi J Hagerman (9)
Stanley Fahn (10)
Elizabeth Berry-Kravis (1) (11)
Maureen A Leehey (12)

1. Department of Neurological Sciences ; Rush University ; Chicago ; IL ; USA
2. Department of Developmental Disability Neuropsychiatry ; School of Psychiatry ; University of New South Wales ; Sydney ; Australia
3. D茅partement de Neurologie ; H么pitaux Universitaires de Strasbourg ; H么pital de Hautepierre ; Strasbourg ; Cedex ; 67098 ; France
4. Institut de G茅n茅tique et de Biologie Mol茅culaire et Cellulaire (IGBMC) ; INSERM-U964/CNRS-UMR7104/Universit茅 de Strasbourg ; Illkirch ; 67404 ; France
5. F茅d茅ration de M茅decine Translationnelle de Strasbourg (FMTS) ; Universit茅 de Strasbourg ; Strasbourg ; France
6. Department of clinical Genetics ; Kennedy Center ; Rigshospitalet ; Copenhagen University Hospital ; Copenhagen ; Denmark
7. Department of Medical Biochemistry and Molecular Biology ; University of Seville ; Sevilla ; Spain
8. Department of Anatomy & Cell Biology ; Rush University ; Chicago ; IL ; USA
13. Centre for Healthy Brain Ageing ; University of New South Wales ; Sydney ; Australia
9. Department of Pediatrics & M.I.N.D. Institute ; University of California at Davis Medical Center ; Sacramento ; CA ; USA
10. Department of Neurology ; Columbia University ; New York ; NY ; USA
11. Departments of Pediatrics and Biochemistry ; Rush University ; Chicago ; IL ; USA
12. Department of Neurology ; University of Colorado at Denver ; Denver ; CO ; USA

刊名：Journal of Neurodevelopmental Disorders

出版年：2015

作者：Anne C Wheeler (12) (4)
Donald B Bailey Jr (4)
Elizabeth Berry-Kravis (5)
Jan Greenberg (6)
Molly Losh (7)
Marsha Mailick (6)
Montserrat Mil脿 (8)
John M Olichney (11) (9)
Laia Rodriguez-Revenga (8)
Stephanie Sherman (10)
Leann Smith (6)
Scott Summers (11) (9)
Jin-Chen Yang (11) (9)
Randi Hagerman (11) (9)

12. Carolina Institute for Developmental Disabilities ; University of North Carolina at Chapel Hill ; Chapel Hill ; NC ; 27599 ; USA
4. RTI International ; 3040 Cornwallis Road ; Research Triangle Park ; NC ; 27709 ; USA
5. Rush Medical Center ; 1735 West Harrison Street Suite 718 ; Chicago ; IL ; 60612 ; USA
6. Waisman Center ; University of Wisconsin ; 1500 Highland Avenue ; Madison ; WI ; 53705 ; USA
7. Northwestern University ; 2240 Campus Drive ; Evanston ; IL ; 60208-3507 ; USA
8. Biochemistry and Molecular Genetics Department ; Hospital Clinic ; Villarroel 170 ; 08036 ; Barcelona ; Spain
11. MIND Institute ; University of California Davis ; 2825 50th Street ; Sacramento ; CA ; 95817 ; USA
9. Center for Mind and Brain ; University of California-Davis ; 1 Shields Avenue ; Davis ; CA ; 95616 ; USA
10. Emory University ; 615 Michael Street ; Atlanta ; GA ; 30322 ; USA

关键词：fragile X ; FMR1 premutation ; health risks

刊名：Journal of Neurodevelopmental Disorders

出版年：2014

作者：Claus Bachert (1)
Ruby Pawankar (2)
Luo Zhang (3)
Chaweewan Bunnag (4)
Wytske J Fokkens (5)
Daniel L Hamilos (6)
Orathai Jirapongsananuruk (4)
Robert Kern (7)
Eli O Meltzer (8)
Joaquim Mullol (9)
Robert Naclerio (10)
Renata Pilan (11)
Chae-Seo Rhee (12)
Harumi Suzaki (13)
Richard Voegels (14)
Michael Blaiss (15)

1. Upper Airways Research Laboratory (URL) ; University Hospital Ghent ; Kragujevac ; Belgium
2. Div. of Allergy ; Dept. of Pediatrics ; Nippon Medical School ; Tokyo ; Japan
3. Beijing Key Laboratory of Nasal diseases ; Beijing Institute of Otolaryngology ; Beijing ; China
4. Faculty of Medicine ; Siriraj Hospital Mahidol University ; Bangkok ; Thailand
5. Department of Otorhinolaryngology ; Academic Medical Centre ; Amsterdam ; The Netherlands
6. Division of Rheumatology ; Allergy & Immunology ; Massachusetts General Hospital ; Boston ; MA ; USA
7. Department of Otolaryngology Head and Neck Surgery ; Northwestern University Feinberg School of Medicine ; Chicago ; Illinois ; USA
8. Allergy & Asthma Medical Group & Research Center ; San Diego ; California ; USA
9. Rhinology Unit & Smell Clinic ; Hospital Cl铆nic 鈥?IDIBAPS ; Barcelona ; Catalonia ; Spain
10. Section of Otolaryngology Head and Neck Surgery ; Department of Surgery ; University of Chicago ; Chicago ; Illinois ; USA
11. Department of Otorhinolaryngology ; Clinics Hospital/University of Sao Paulo Medical School ; Kragujevac ; Brazil
12. Department of Otorhinolaryngology-Head and Neck Surgery ; Seoul National University Bundang Hospital ; Seongnam ; Seoul National University College of Medicine ; Seoul ; Korea
13. Dept. of Otorhinolaryngology ; Showa University ; Tokyo ; Japan
14. Department of Rhinology ; University of Sao Paulo Medical School ; Sao Paulo ; Brazil
15. University of Tennessee Health Science Center ; Memphis ; Tennessee

关键词：Chronic rhinosinusitis ; Pharmacoeconomics ; Pathophysiology ; Phenotypes ; Genetics ; Co ; morbidities ; Treatment ; Biologicals ; Unmet needs

刊名：World Allergy Organization Journal

出版年：2014

作者：Montserrat Hervella (1)
Neskuts Izagirre (1)
Santos Alonso (1)
Mihai Ioana (2) (3)
Mihai G Netea (2) (4)
Concepci贸n de-la-Rua (1)

1. Department of Genetics ; Physical Anthropology and Animal Physiology ; University of the Basque Country ; Barrio Sarriena s/n ; 48940 ; Leioa ; Bizkaia ; Spain
2. Department of Medicine ; Radboud University Nijmegen Medical Centre ; Nijmegen ; The Netherlands
3. University of Medicine and Pharmacy Craiova ; Craiova ; Romania
4. Nijmegen Institute for Infection ; Inflammation and Immunity (N4i) ; Radboud University Nijmegen Medical Centre ; Nijmegen ; The Netherlands

关键词：Mitochondrial DNA ; Carpathian Mountains ; Romanian population ; Genetic barrier

刊名：BMC Genetics

出版年：2014

作者：Deborah A Hall (1)
Rachael C Birch (2)
Mathieu Anheim (3) (4) (5)
Aia E J酶nch (6)
Elizabeth Pintado (7)
Joanne O鈥橩eefe (8)
Julian N Trollor (13) (2)
Glenn T Stebbins (1)
Randi J Hagerman (9)
Stanley Fahn (10)
Elizabeth Berry-Kravis (1) (11)
Maureen A Leehey (12)

1. Department of Neurological Sciences ; Rush University ; Chicago ; IL ; USA
2. Department of Developmental Disability Neuropsychiatry ; School of Psychiatry ; University of New South Wales ; Sydney ; Australia
3. D茅partement de Neurologie ; H么pitaux Universitaires de Strasbourg ; H么pital de Hautepierre ; 67098 ; Strasbourg ; Cedex ; France
4. Institut de G茅n茅tique et de Biologie Mol茅culaire et Cellulaire (IGBMC) ; INSERM-U964/CNRS-UMR7104/Universit茅 de Strasbourg ; 67404 ; Illkirch ; France
5. F茅d茅ration de M茅decine Translationnelle de Strasbourg (FMTS) ; Universit茅 de Strasbourg ; Strasbourg ; France
6. Department of clinical Genetics ; Kennedy Center ; Rigshospitalet ; Copenhagen University Hospital ; Copenhagen ; Denmark
7. Department of Medical Biochemistry and Molecular Biology ; University of Seville ; Sevilla ; Spain
8. Department of Anatomy & Cell Biology ; Rush University ; Chicago ; IL ; USA
13. Centre for Healthy Brain Ageing ; University of New South Wales ; Sydney ; Australia
9. Department of Pediatrics & M.I.N.D. Institute ; University of California at Davis Medical Center ; Sacramento ; CA ; USA
10. Department of Neurology ; Columbia University ; New York ; NY ; USA
11. Departments of Pediatrics and Biochemistry ; Rush University ; Chicago ; IL ; USA
12. Department of Neurology ; University of Colorado at Denver ; Denver ; CO ; USA

关键词：FMR1 ; FXTAS ; Premutation ; Fragile X ; Tremor ; Ataxia

刊名：Journal of Neurodevelopmental Disorders

出版年：2014

作者：Carolyn M Yrigollen (4)
Loreto Martorell (5)
Blythe Durbin-Johnson (6)
Montserrat Naudo (5)
Jordi Genoves (5)
Alessandra Murgia (7)
Roberta Polli (7)
Lili Zhou (8)
Deborah Barbouth (9)
Abigail Rupchock (9)
Brenda Finucane (10)
Gary J Latham (11)
Andrew Hadd (11)
Elizabeth Berry-Kravis (8)
Flora Tassone (12) (4)

4. Department of Biochemistry and Molecular Medicine ; University of California ; Davis ; School of Medicine ; 2700 Stockton Blvd. ; Suite 2102 ; Sacramento ; CA ; 95817 ; USA
5. Molecular Genetics Section ; Hospital Sant Joan de D茅u ; Barcelona ; Spain
6. Department of Public Health Sciences ; University of California ; Davis ; Davis ; CA ; USA
7. Laboratory of Molecular Genetics of Neurodevelopment ; Department of Women鈥檚 and Children鈥檚 Health ; University of Padova ; Padova ; Italy
8. Department of Pediatrics ; Neurological Sciences ; and Biochemistry ; Rush University Medical Center ; Chicago ; IL ; USA
9. Dr. John T. Macdonald Foundation ; Department of Human Genetics ; Miller School of Medicine ; University of Miami ; Miami ; FL ; USA
10. Geisinger Autism and Developmental Medicine Institute ; Lewisburg ; PA ; USA
11. Asuragen ; Inc. ; Austin ; TX ; USA
12. MIND Institute ; University of California ; Davis ; School of Medicine ; Davis ; CA ; USA

关键词：AGG interruptions ; premutation ; FMR1 ; gray/intermediate allele ; full mutation ; risk of expansion

刊名：Journal of Neurodevelopmental Disorders

出版年：2014

作者： Diewertje Sluik ; Brian Buijsse…

刊名：Nederlands Tijdschrift voor Diabetologie

出版年：2012