부산대학교 도서관

Pagnamenta, AT; Jackson, A; Perveen, R; Beaman, G; Petts, G; Gupta, A; Hyder, Z; Chung, BH; Kan, AS; Cheung, KW; Kerstjens‐Frederikse, WS; Abbott, KM; Ambrose, JC; Arumugam, P; Bevers, R; Bleda, M; Boardman‐Pretty, F; Boustred, CR; Brittain, H; Caulfield, MJ; Chan, GC; Elgar, G; Fowler, T; Giess, A; Hamblin, A; Henderson, S; Hubbard, TJP; Jackson, R; Jones, LJ; Kasperaviciute, D; Kayikci, M; Kousathanas, A; Lahnstein, L; Leigh, SEA; Leong, IUS; Lopez, JF; Maleady‐Crowe, F; McEntagart, M; Minneci, F; Moutsianas, L; Mueller, M; Murugaesu, N; Need, AC; O′Donovan, P; Odhams, CA; Patch, C; Pereira, MB; Perez‐Gil, D; Pullinger, J; Rahim, T

Genomics England Res Consortium 2022, 'Biallelic TMEM260 variants cause Truncus Arteriosus, with or without renal defects', Clinical Genetics, vol. 101, no. 1, pp. 127-133. https://doi.org/10.1111/cge.14071
Clinical Genetics

Wan, YBA; Simpson, M; Dulfer, E; Osborn, DPS; Kerstjens-Frederikse, WS; Vos, YJ; Pinard, A; Regalado, E; Guo, DC; Boileau, C; Jondeau, G; Benarroch, L; Loeys, B; Luyckx, I; Van Laer, L; Verstraeten, A; DeBacker, J; Ramachandran, V; Ashraf, QM; Lau, L; Garcia, M; Gaer, J; Bharj, J; Sneddon, J; Fisher, E; Dean, J; Isekame, Y; Saggar, A; Milewicz, D; Jahangiri, M; Behr, ER; Child, A; Smith, A; Aragon-Martin, JA

Olde Keizer RACM; Julius Center for Health Sciences and Primary Care, University Medical Center Utrecht, Utrecht University, Utrecht, Netherlands.; Marouane A; Department of Human Genetics, Radboud University Medical Center, Radboud Institute for Health Sciences, Nijmegen, Netherlands.; Kerstjens-Frederikse WS; Department of Genetics, University Medical Center, University of Groningen, Groningen, Netherlands.; Deden AC; Department of Human Genetics, Radboud University Medical Center, Radboud Institute for Health Sciences, Nijmegen, Netherlands.; Lichtenbelt KD; Department of Genetics, Utrecht University Medical Center, Utrecht, Netherlands.; Jonckers T; Department of Pediatrics and Neonatology, Máxima Medical Center, Veldhoven, Netherlands.; Vervoorn M; Department of Pediatrics and Neonatology, Máxima Medical Center, Veldhoven, Netherlands.; Vreeburg M; Department of Clinical Genetics, Maastricht University Medical Center, Maastricht, Netherlands.; Henneman L; Department of Human Genetics and Amsterdam Reproduction and Development Research Institute, Amsterdam UMC, Vrije Universiteit, Amsterdam, Netherlands.; de Vries LS; Department of Neonatology, University Medical Center Utrecht, Utrecht, Netherlands.; Sinke RJ; Department of Genetics, University Medical Center, University of Groningen, Groningen, Netherlands.; Pfundt R; Department of Human Genetics, Radboud University Medical Center, Radboud Institute for Health Sciences, Nijmegen, Netherlands.; Stevens SJC; Department of Clinical Genetics, Maastricht University Medical Center, Maastricht, Netherlands.; Andriessen P; Department of Pediatrics, Máxima Medical Center, Veldhoven, Netherlands.; Department of Applied Physics, Eindhoven University of Technology, Eindhoven, Netherlands.; van Lingen RA; Department of Neonatology, Isala, Zwolle, Netherlands.; Nelen M; Department of Human Genetics, Radboud University Medical Center, Radboud Institute for Health Sciences, Nijmegen, Netherlands.; Scheffer H; Department of Human Genetics, Radboud University Medical Center, Radboud Institute for Health Sciences, Nijmegen, Netherlands.; Stemkens D; VSOP - National Patient Alliance for Rare and Genetic Diseases, Soest, Netherlands.; Oosterwijk C; VSOP - National Patient Alliance for Rare and Genetic Diseases, Soest, Netherlands.; van Amstel HKP; Department of Genetics, Utrecht University Medical Center, Utrecht, Netherlands.; de Boode WP; Department of Neonatology, Radboud University Medical Center, Radboud Institute for Health Sciences, Amalia Children's Hospital, Nijmegen, Netherlands.; van Zelst-Stams WAG; Department of Human Genetics, Radboud University Medical Center, Radboud Institute for Health Sciences, Nijmegen, Netherlands. wendy.vanzelst-stams@radboudumc.nl.; Frederix GWJ; Julius Center for Health Sciences and Primary Care, University Medical Center Utrecht, Utrecht University, Utrecht, Netherlands.; Department of Genetics, Utrecht University Medical Center, Utrecht, Netherlands.; Vissers LELM; Department of Human Genetics, Donders Institute for Brain, Cognition and Behaviour, Radboud University Medical Center, Nijmegen, Netherlands. lisenka.vissers@radboudumc.nl.

Publisher: Springer Verlag Country of Publication: Germany NLM ID: 7603873 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1432-1076 (Electronic) Linking ISSN: 03406199 NLM ISO Abbreviation: Eur J Pediatr Subsets: MEDLINE

Castilla-Vallmanya L; Selmer KK; Dimartino C; Raquel Rabionet Janssen; Blanco-Sánchez B; Yang S; Reijnders MRF; van Essen AJ; Oufadem M; Vigeland MD; Stadheim B; Houge G; Cox H; Kingston H; Clayton-Smith J; Innis JW; Iascone M; Cereda A; Gabbiadini S; Chung WK; Sanders V; Charrow J; Bryant E; Millichap J; Vitobello A; Thauvin C; Mau-Them FT; Faivre L; Lesca G; Labalme A; Rougeot C; Chatron N; Sanlaville D; Christensen KM; Kirby A; Lewandowski R; Gannaway R; Aly M; Lehman A; Clarke L; Graul-Neumann L; Zweier C; Lessel D; Lozic B; Aukrust I; Peretz R; Stratton R; Smol T; Dieux-Coëslier A; Meira J; Wohler E; Sobreira N; Beaver EM; Heeley J; Briere LC; High FA; Sweetser DA; Walker MA; Keegan CE; Jayakar P; Shinawi M; Kerstjens-Frederikse WS; Earl DL; Siu VM; Reesor E; Yao T; Hegele RA; Vaske OM; Rego S; Undiagnosed Diseases Network, Care4Rare Canada Consortium; Shapiro KA; Wong B; Gambello MJ; McDonald M; Karlowicz D; Colombo R; Serretti A; Pais L; O'Donnell-Luria A; Wray A; Sadedin S; Chong B; Tan TY; Christodoulou J; White SM; Slavotinek A; Barbouth D; Morel Swols D; Parisot M; Bole-Feysot C; Nitschké P; Pingault V; Munnich A; Cho MT; Cormier-Daire V; Balcells S; Lyonnet S; Grinberg-Vaisman DR; Amiel J; Urreizti R; Gordon CT

GENETICS IN MEDICINE
r-FSJD. Repositorio Institucional de Producción Científica de la Fundació Sant Joan de Déu
instname
Fundació Sant Joan de Déu
r-FSJD: Repositorio Institucional de Producción Científica de la Fundació Sant Joan de Déu

Rraku E; Department of Genetics, University of Groningen, University Medical Centre Groningen, Groningen, The Netherlands.; Kerstjens-Frederikse WS; Department of Genetics, University of Groningen, University Medical Centre Groningen, Groningen, The Netherlands.; Swertz MA; Department of Genetics, University of Groningen, University Medical Centre Groningen, Groningen, The Netherlands.; Dijkhuizen T; Department of Genetics, University of Groningen, University Medical Centre Groningen, Groningen, The Netherlands.; van Ravenswaaij-Arts CMA; Department of Genetics, University of Groningen, University Medical Centre Groningen, Groningen, The Netherlands. c.m.a.van.ravenswaaij@umcg.nl.; ATN/Jonx, Groningen, The Netherlands. c.m.a.van.ravenswaaij@umcg.nl.; Engwerda A; Department of Genetics, University of Groningen, University Medical Centre Groningen, Groningen, The Netherlands.

Publisher: BioMed Central Country of Publication: England NLM ID: 101266602 Publication Model: Electronic Cited Medium: Internet ISSN: 1750-1172 (Electronic) Linking ISSN: 17501172 NLM ISO Abbreviation: Orphanet J Rare Dis Subsets: MEDLINE

Engwerda A; Department of Genetics, University Medical Center Groningen, University of Groningen, Groningen, The Netherlands.; Frentz B; Vanboeijen, Assen, The Netherlands.; Rraku E; Department of Genetics, University Medical Center Groningen, University of Groningen, Groningen, The Netherlands.; de Souza NFS; Department of Genetics, University Medical Center Groningen, University of Groningen, Groningen, The Netherlands.; Swertz MA; Department of Genetics, University Medical Center Groningen, University of Groningen, Groningen, The Netherlands.; Plantinga M; Department of Genetics, University Medical Center Groningen, University of Groningen, Groningen, The Netherlands.; Kerstjens-Frederikse WS; Department of Genetics, University Medical Center Groningen, University of Groningen, Groningen, The Netherlands.; Ranchor AV; Department of Health Psychology, University Medical Center Groningen, University of Groningen, Groningen, The Netherlands.; van Ravenswaaij-Arts CMA; Department of Genetics, University Medical Center Groningen, University of Groningen, Groningen, The Netherlands. c.m.a.van.ravenswaaij@umcg.nl.; ATN/Jonx, Groningen, The Netherlands. c.m.a.van.ravenswaaij@umcg.nl.

Publisher: BioMed Central Country of Publication: England NLM ID: 101266602 Publication Model: Electronic Cited Medium: Internet ISSN: 1750-1172 (Electronic) Linking ISSN: 17501172 NLM ISO Abbreviation: Orphanet J Rare Dis Subsets: MEDLINE

Engwerda A; Department of Genetics, University Medical Center Groningen, University of Groningen, Groningen, The Netherlands.; Kerstjens-Frederikse WS; Department of Genetics, University Medical Center Groningen, University of Groningen, Groningen, The Netherlands.; Corsten-Janssen N; Department of Genetics, University Medical Center Groningen, University of Groningen, Groningen, The Netherlands.; Dijkhuizen T; Department of Genetics, University Medical Center Groningen, University of Groningen, Groningen, The Netherlands.; van Ravenswaaij-Arts CMA; Department of Genetics, University Medical Center Groningen, University of Groningen, Groningen, The Netherlands. c.m.a.van.ravenswaaij@umcg.nl.; ATN/Jonx, Groningen, The Netherlands. c.m.a.van.ravenswaaij@umcg.nl.

Publisher: BioMed Central Country of Publication: England NLM ID: 101266602 Publication Model: Electronic Cited Medium: Internet ISSN: 1750-1172 (Electronic) Linking ISSN: 17501172 NLM ISO Abbreviation: Orphanet J Rare Dis Subsets: MEDLINE

Goorhuis-Brouwer, SM; Dikkers, FG; Robinson, PH; Kerstjens-Frederikse, WS

The Cleft Palate-Craniofacial Journal. 40:190-195

Kerstjens-Frederikse, WS; Kurahashi, H; Driscoll, DA; Budarf, ML; Emanuel, BS; Beatty, B; Scheidl, T; Siegel-Bartelt, J; Henderson, K; Cytrynbaum, C; Nie, G; Teshima, [No Value]

Journal of Medical Genetics. 36:721-723

Willemse BWM; Department of Pediatric Pulmonology and Pediatric Allergology, Beatrix Children's Hospital, University of Groningen, University Medical Center Groningen, Hanzeplein 1, 9713 GZ, Groningen, The Netherlands. b.w.m.willemse@umcg.nl.; van der Crabben SN; Department of Metabolic Diseases, University Medical Center Utrecht, Utrecht, The Netherlands.; Department of Clinical Genetics, Amsterdam UMC, University of Amsterdam, Amsterdam, The Netherlands.; Kerstjens-Frederikse WS; Department of Genetics, University of Groningen, University Medical Center Groningen, Groningen, The Netherlands.; Timens W; Department of Pathology and Medical Biology, University of Groningen, University Medical Center Groningen, Groningen, The Netherlands.; van Montfrans JM; Department of Pediatric Immunology, Wilhelmina Children's Hospital, University Medical Center Utrecht, Utrecht, The Netherlands.; Lindemans CA; Department of Pediatric Immunology, Wilhelmina Children's Hospital, University Medical Center Utrecht, Utrecht, The Netherlands.; Department of Pediatric Blood and Bone Marrow Transplantation, Princess Maxima Center and UMC Utrecht, Utrecht, The Netherlands.; Boelens JJ; Department of Pediatric Immunology, Wilhelmina Children's Hospital, University Medical Center Utrecht, Utrecht, The Netherlands.; Stem Cell Transplantation and Cellular Therapies Program, Department Pediatrics, Memorial Sloan Kettering Cancer Center, New York, NY, USA.; Hennus MP; Pediatric Intensive Care, Wilhelmina Children's Hospital, University Medical Center Utrecht, Utrecht, The Netherlands.; van Haaften G; Department of Genetics (Center for Molecular Medicine, University Medical Center Utrecht (UMCU), Utrecht, The Netherlands.

Publisher: BioMed Central Country of Publication: England NLM ID: 101266602 Publication Model: Electronic Cited Medium: Internet ISSN: 1750-1172 (Electronic) Linking ISSN: 17501172 NLM ISO Abbreviation: Orphanet J Rare Dis Subsets: MEDLINE

Huth EA; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX, 77030, USA.; Zhao X; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX, 77030, USA.; Baylor Genetics, Houston, TX, USA.; Owen N; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX, 77030, USA.; Baylor Genetics, Houston, TX, USA.; Luna PN; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX, 77030, USA.; Vogel I; Department of Clinical Medicine, Aarhus University, 8000, Aarhus, C, Denmark.; Dorf ILH; Department of Clinical Genetics, Aarhus University Hospital, Aarhus, Denmark.; Joss S; West of Scotland Genomics Service, Queen Elizabeth University Hospital, Glasgow, G51 4TF, UK.; Clayton-Smith J; Manchester Centre For Genomic Medicine, Manchester University Hospitals, Manchester, M13 9WL, UK.; University of Manchester, Manchester, M13 9PL, UK.; Parker MJ; Department of Clinical Genetics, Sheffield, Children's Hospital, UK.; Louw JJ; Pediatric Cardiology Maastricht University Medical Centre, Maastricht, The Netherlands.; Gewillig M; Department of Cardiovascular Sciences KU Leuven, Leuven, Belgium.; Pediatric Cardiology University Hospitals Leuven, Leuven, Belgium.; Breckpot J; Center for Human Genetics, University Hospitals Leuven, Catholic University, Leuven, Belgium.; Kraus A; Yorkshire Regional Genetics Service, Chapel Allerton Hospital, Leeds, LS7 4SA, UK.; Sasaki E; Oxford Centre for Genomic Medicine, Oxford University Hospital, Oxford, OX3 7HE, UK.; Kini U; Oxford Centre for Genomic Medicine, Oxford University Hospital, Oxford, OX3 7HE, UK.; Radcliffe Department of Medicine, University of Oxford, Oxford, OX3 9DU, UK.; Burgess T; Victorian Clinical Genetics Services, Murdoch Children's Research Institute, Melbourne, Australia.; Department of Paediatrics, University of Melbourne, Melbourne, Australia.; Tan TY; Victorian Clinical Genetics Services, Murdoch Children's Research Institute, Melbourne, Australia.; Department of Paediatrics, University of Melbourne, Melbourne, Australia.; Armstrong R; East Anglian Medical Genetics Service, Addenbrooke's Treatment Centre, Addenbrooke's Hospital, Cambridge, CB2 0QQ, UK.; Neas K; Genetic Health Service NZ, Wellington, New Zealand.; Ferrero GB; Department of Clinical and Biological Sciences, University of Torino, Orbassano, Italy.; Brusco A; Department of Medical Sciences, University of Torino, Torino, Italy.; Città della Salute e della Scienza University Hospital, Torino, Italy.; Kerstjens-Frederikse WS; Department Genetics, University of Groningen, University Medical Center Groningen, Groningen, the Netherlands.; Rankin J; Peninsula Clinical Genetics Service, Exeter, UK.; Helvaty LR; Indiana University School of Medicine, Indianapolis, IN, USA.; Landis BJ; Indiana University School of Medicine, Indianapolis, IN, USA.; Geddes GC; Department of Medical and Molecular Genetics, Indiana University School of Medicine, Indianapolis, IN, 46202, USA.; Department of Pediatrics, Indiana University School of Medicine, Indianapolis, IN, 46202, USA.; McBride KL; Department of Medical Genetics, University of Calgary, Calgary, Alberta, Canada.; Center for Cardiovascular Research, Nationwide Children's Hospital, Columbus, OH, USA.; Ware SM; Department of Medical and Molecular Genetics, Indiana University School of Medicine, Indianapolis, IN, 46202, USA.; Department of Pediatrics, Indiana University School of Medicine, Indianapolis, IN, 46202, USA.; Shaw CA; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX, 77030, USA.; Lalani SR; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX, 77030, USA.; Rosenfeld JA; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX, 77030, USA.; Scott DA; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX, 77030, USA. dscott@bcm.edu.; Department of Molecular Physiology and Biophysics, Baylor College of Medicine, Houston, TX, 77030, USA. dscott@bcm.edu.

Publisher: Nature Publishing Group Country of Publication: England NLM ID: 9302235 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1476-5438 (Electronic) Linking ISSN: 10184813 NLM ISO Abbreviation: Eur J Hum Genet Subsets: MEDLINE

Aukema SM; Department of Clinical Genetics, University of Groningen, University Medical Center Groningen, Groningen, The Netherlands.; Ten Brinke GA; Beatrix Children's Hospital, University Medical Center Groningen, Groningen, The Netherlands.; Timens W; Department of Pathology and Medical Biology, University of Groningen, University Medical Centre Groningen, Groningen, The Netherlands.; Vos YJ; Department of Clinical Genetics, University of Groningen, University Medical Center Groningen, Groningen, The Netherlands.; Accord RE; Department of Congenital Cardiothoracic Surgery, University of Groningen, University Medical Center Groningen, Beatrix Children's Hospital, Center for Congenital Heart Diseases, Groningen, The Netherlands.; Kraft KE; Beatrix Children's Hospital, University Medical Center Groningen, Groningen, The Netherlands.; Santing MJ; Department of Radiology, University of Groningen, University Medical Center Groningen, Groningen, The Netherlands.; Morssink LP; Department of Obstetrics and Gynaecology, Medical Center Leeuwarden, Leeuwarden, The Netherlands.; Streefland E; Department of Obstetrics and Gynecology/Prenatal diagnosis, University Medical Centre of Groningen, University of Groningen, Groningen, The Netherlands.; van Diemen CC; Department of Clinical Genetics, University of Groningen, University Medical Center Groningen, Groningen, The Netherlands.; Vrijlandt EJ; Department of Pediatric Pulmonology and Pediatric Allergy, Beatrix Children's Hospital, University Medical Center Groningen, University of Groningen, Groningen, The Netherlands.; Hulzebos CV; Beatrix Children's Hospital, University Medical Center Groningen, Groningen, The Netherlands.; Kerstjens-Frederikse WS; Department of Clinical Genetics, University of Groningen, University Medical Center Groningen, Groningen, The Netherlands.

Publisher: Wiley-Blackwell Country of Publication: United States NLM ID: 101235741 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1552-4833 (Electronic) Linking ISSN: 15524825 NLM ISO Abbreviation: Am J Med Genet A Subsets: MEDLINE

Roos - Hesselink, Jolien; Kerstjens-Frederikse, WS; Meijboom, FJ (Folkert); Pieper, PG

Netherlands heart journal : monthly journal of the Netherlands Society of Cardiology and the Netherlands Heart Foundation. 13(3)

Deelen P; University of Groningen, University Medical Center Groningen, Department of Genetics, 9700 VB, Groningen, The Netherlands.; University of Groningen, University Medical Center Groningen, Genomics Coordination Center, 9700 VB, Groningen, The Netherlands.; van Dam S; University of Groningen, University Medical Center Groningen, Department of Genetics, 9700 VB, Groningen, The Netherlands.; Herkert JC; University of Groningen, University Medical Center Groningen, Department of Genetics, 9700 VB, Groningen, The Netherlands.; Karjalainen JM; University of Groningen, University Medical Center Groningen, Department of Genetics, 9700 VB, Groningen, The Netherlands.; Brugge H; University of Groningen, University Medical Center Groningen, Department of Genetics, 9700 VB, Groningen, The Netherlands.; Abbott KM; University of Groningen, University Medical Center Groningen, Department of Genetics, 9700 VB, Groningen, The Netherlands.; van Diemen CC; University of Groningen, University Medical Center Groningen, Department of Genetics, 9700 VB, Groningen, The Netherlands.; van der Zwaag PA; University of Groningen, University Medical Center Groningen, Department of Genetics, 9700 VB, Groningen, The Netherlands.; Gerkes EH; University of Groningen, University Medical Center Groningen, Department of Genetics, 9700 VB, Groningen, The Netherlands.; Zonneveld-Huijssoon E; University of Groningen, University Medical Center Groningen, Department of Genetics, 9700 VB, Groningen, The Netherlands.; Boer-Bergsma JJ; University of Groningen, University Medical Center Groningen, Department of Genetics, 9700 VB, Groningen, The Netherlands.; Folkertsma P; University of Groningen, University Medical Center Groningen, Department of Genetics, 9700 VB, Groningen, The Netherlands.; Gillett T; University of Groningen, University Medical Center Groningen, Department of Genetics, 9700 VB, Groningen, The Netherlands.; van der Velde KJ; University of Groningen, University Medical Center Groningen, Department of Genetics, 9700 VB, Groningen, The Netherlands.; University of Groningen, University Medical Center Groningen, Genomics Coordination Center, 9700 VB, Groningen, The Netherlands.; Kanninga R; University of Groningen, University Medical Center Groningen, Department of Genetics, 9700 VB, Groningen, The Netherlands.; University of Groningen, University Medical Center Groningen, Genomics Coordination Center, 9700 VB, Groningen, The Netherlands.; van den Akker PC; University of Groningen, University Medical Center Groningen, Department of Genetics, 9700 VB, Groningen, The Netherlands.; Jan SZ; University of Groningen, University Medical Center Groningen, Department of Genetics, 9700 VB, Groningen, The Netherlands.; Hoorntje ET; University of Groningen, University Medical Center Groningen, Department of Genetics, 9700 VB, Groningen, The Netherlands.; Netherlands Heart Institute, 3511 EP, Utrecht, The Netherlands.; Te Rijdt WP; University of Groningen, University Medical Center Groningen, Department of Genetics, 9700 VB, Groningen, The Netherlands.; Netherlands Heart Institute, 3511 EP, Utrecht, The Netherlands.; Vos YJ; University of Groningen, University Medical Center Groningen, Department of Genetics, 9700 VB, Groningen, The Netherlands.; Jongbloed JDH; University of Groningen, University Medical Center Groningen, Department of Genetics, 9700 VB, Groningen, The Netherlands.; van Ravenswaaij-Arts CMA; University of Groningen, University Medical Center Groningen, Department of Genetics, 9700 VB, Groningen, The Netherlands.; Sinke R; University of Groningen, University Medical Center Groningen, Department of Genetics, 9700 VB, Groningen, The Netherlands.; Sikkema-Raddatz B; University of Groningen, University Medical Center Groningen, Department of Genetics, 9700 VB, Groningen, The Netherlands.; Kerstjens-Frederikse WS; University of Groningen, University Medical Center Groningen, Department of Genetics, 9700 VB, Groningen, The Netherlands.; Swertz MA; University of Groningen, University Medical Center Groningen, Department of Genetics, 9700 VB, Groningen, The Netherlands.; University of Groningen, University Medical Center Groningen, Genomics Coordination Center, 9700 VB, Groningen, The Netherlands.; Franke L; University of Groningen, University Medical Center Groningen, Department of Genetics, 9700 VB, Groningen, The Netherlands. Lude@ludesign.nl.

Publisher: Nature Pub. Group Country of Publication: England NLM ID: 101528555 Publication Model: Electronic Cited Medium: Internet ISSN: 2041-1723 (Electronic) Linking ISSN: 20411723 NLM ISO Abbreviation: Nat Commun

Leegte, B; Kerstjens-Frederikse, WS; Deelstra, K; Begeer, JH; Van Essen, AJ

Genetic counseling (Geneva, Switzerland). 10(3)

Kerstjens-Frederikse, WS; Hofstra, RMW; van Essen, AJ; Meijers, JHC; Buys, CHCM

Journal of medical genetics. 36(3)

Engwerda A; Department of Genetics, University Medical Center Groningen, University of Groningen, Groningen, The Netherlands.; Abbott KM; Department of Genetics, University Medical Center Groningen, University of Groningen, Groningen, The Netherlands.; Hitzert MM; Department of Genetics, University Medical Center Groningen, University of Groningen, Groningen, The Netherlands.; van Ravenswaaij-Arts CMA; Department of Genetics, University Medical Center Groningen, University of Groningen, Groningen, The Netherlands.; ATN/Jonx, Groningen, The Netherlands.; Kerstjens-Frederikse WS; Department of Genetics, University Medical Center Groningen, University of Groningen, Groningen, The Netherlands. w.s.kerstjens@umcg.nl.

Publisher: Nature Publishing Group Country of Publication: England NLM ID: 9302235 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1476-5438 (Electronic) Linking ISSN: 10184813 NLM ISO Abbreviation: Eur J Hum Genet Subsets: MEDLINE

Škorić-Milosavljević D; Department of Clinical and Experimental Cardiology, Amsterdam University Medical Centers, University of Amsterdam, Heart Center, Amsterdam Cardiovascular Sciences, The Netherlands (D.S.-M., R.T., O.I.W., F.V.Y.T., N.L., E.M.L., L.B., B.J.B., B.J.M., C.R.B.).; Department of Human Genetics, Amsterdam University Medical Centers, The Netherlands (D.S.-M., E.M.L., A.V.P.).; Tadros R; Department of Clinical and Experimental Cardiology, Amsterdam University Medical Centers, University of Amsterdam, Heart Center, Amsterdam Cardiovascular Sciences, The Netherlands (D.S.-M., R.T., O.I.W., F.V.Y.T., N.L., E.M.L., L.B., B.J.B., B.J.M., C.R.B.).; Department of Medicine, Cardiovascular Genetics Center, Montreal Heart Institute and Faculty of Medicine, Université de Montréal, Montreal, Québec, Canada (R.T., M.-A.C.).; Bosada FM; Department of Medical Biology, Amsterdam University Medical Centers, University of Amsterdam, Amsterdam Cardiovascular Sciences, the Netherlands (F.M.B., J.H.v.W., P.B., A.I., K.v.D., V.M.C., A.V.P.).; Tessadori F; Hubrecht Institute-KNAW and University Medical Center Utrecht, the Netherlands (F.T., J.B., C.J.B.).; van Weerd JH; Department of Medical Biology, Amsterdam University Medical Centers, University of Amsterdam, Amsterdam Cardiovascular Sciences, the Netherlands (F.M.B., J.H.v.W., P.B., A.I., K.v.D., V.M.C., A.V.P.).; Woudstra OI; Department of Clinical and Experimental Cardiology, Amsterdam University Medical Centers, University of Amsterdam, Heart Center, Amsterdam Cardiovascular Sciences, The Netherlands (D.S.-M., R.T., O.I.W., F.V.Y.T., N.L., E.M.L., L.B., B.J.B., B.J.M., C.R.B.).; Department of Cardiology, University Medical Center Utrecht, The Netherlands (O.I.W., G.T.S., F.M.).; Tjong FVY; Department of Clinical and Experimental Cardiology, Amsterdam University Medical Centers, University of Amsterdam, Heart Center, Amsterdam Cardiovascular Sciences, The Netherlands (D.S.-M., R.T., O.I.W., F.V.Y.T., N.L., E.M.L., L.B., B.J.B., B.J.M., C.R.B.).; Lahrouchi N; Department of Clinical and Experimental Cardiology, Amsterdam University Medical Centers, University of Amsterdam, Heart Center, Amsterdam Cardiovascular Sciences, The Netherlands (D.S.-M., R.T., O.I.W., F.V.Y.T., N.L., E.M.L., L.B., B.J.B., B.J.M., C.R.B.).; Bajolle F; German Heart Center Berlin, Department of Congenital Heart Disease, Pediatric Cardiology, DZHK (German Centre for Cardiovascular Research), Partner Site Berlin, Germany (F.B., S.S.).; Cordell HJ; Population Health Sciences Institute, Newcastle University, Newcastle, United Kingdom (H.J.C.).; Agopian AJ; Human Genetics Center, Department of Epidemiology, Human Genetics, and Environmental Sciences, UTHealth School of Public Health, Houston, TX (A.J.A.).; Blue GM; Heart Centre for Children, The Children's Hospital at Westmead and Sydney Medical School, Faculty of Medicine and Health, University of Sydney, Australia (G.M.B., D.S.W.).; Barge-Schaapveld DQCM; Department of Clinical Genetics, Leiden University Medical Center, The Netherlands (D.Q.C.M.B.-S.).; Gewillig M; University of Leuven, Belgium (M.G.).; Preuss C; Cardiovascular Genetics, Department of Pediatrics, CHU Sainte-Justine, Université de Montréal, Québec, Canada (C.P., G.A.).; The Jackson Laboratory, Bar Harbor, ME (C.P.).; Lodder EM; Department of Clinical and Experimental Cardiology, Amsterdam University Medical Centers, University of Amsterdam, Heart Center, Amsterdam Cardiovascular Sciences, The Netherlands (D.S.-M., R.T., O.I.W., F.V.Y.T., N.L., E.M.L., L.B., B.J.B., B.J.M., C.R.B.).; Department of Human Genetics, Amsterdam University Medical Centers, The Netherlands (D.S.-M., E.M.L., A.V.P.).; Barnett P; Department of Medical Biology, Amsterdam University Medical Centers, University of Amsterdam, Amsterdam Cardiovascular Sciences, the Netherlands (F.M.B., J.H.v.W., P.B., A.I., K.v.D., V.M.C., A.V.P.).; Ilgun A; Department of Medical Biology, Amsterdam University Medical Centers, University of Amsterdam, Amsterdam Cardiovascular Sciences, the Netherlands (F.M.B., J.H.v.W., P.B., A.I., K.v.D., V.M.C., A.V.P.).; Beekman L; Department of Clinical and Experimental Cardiology, Amsterdam University Medical Centers, University of Amsterdam, Heart Center, Amsterdam Cardiovascular Sciences, The Netherlands (D.S.-M., R.T., O.I.W., F.V.Y.T., N.L., E.M.L., L.B., B.J.B., B.J.M., C.R.B.).; van Duijvenboden K; Department of Medical Biology, Amsterdam University Medical Centers, University of Amsterdam, Amsterdam Cardiovascular Sciences, the Netherlands (F.M.B., J.H.v.W., P.B., A.I., K.v.D., V.M.C., A.V.P.).; Bokenkamp R; Division of Pediatric Cardiology, Department of Pediatrics (R.B., R.L.F.v.d.P.), Leiden University Medical Center, The Netherlands.; Müller-Nurasyid M; Institute of Genetic Epidemiology, Helmholtz Zentrum München - German Research Center for Environmental Health, Neuherberg, Germany (M.M.-N.).; IBE, Faculty of Medicine, LMU Munich, Germany (M.M.-N.).; Institute of Medical Biostatistics, Epidemiology and Informatics (IMBEI), University Medical Center, Johannes Gutenberg University, Mainz, Germany (M.M.-N.).; Vliegen HW; Department of Cardiology (H.W.V.), Leiden University Medical Center, The Netherlands.; Konings TC; Department of Cardiology, Amsterdam University Medical Centers, VU Amsterdam, The Netherlands (T.C.K.).; van Melle JP; Department of Cardiology, University Medical Center Groningen, University of Groningen, The Netherlands (J.P.v.M.).; van Dijk APJ; Department of Cardiology, Radboud University Medical Center, Nijmegen, The Netherlands (A.P.J.v.D., R.R.J.v.K.).; van Kimmenade RRJ; Department of Cardiology, Radboud University Medical Center, Nijmegen, The Netherlands (A.P.J.v.D., R.R.J.v.K.).; Department of Cardiology, Maastricht University Medical Center, The Netherlands (R.R.J.v.K.).; Roos-Hesselink JW; Department of Cardiology, Erasmus Medical Center, Erasmus University, Rotterdam, The Netherlands (J.W.R.-H.).; Sieswerda GT; Department of Cardiology, University Medical Center Utrecht, The Netherlands (O.I.W., G.T.S., F.M.).; Meijboom F; Department of Cardiology, University Medical Center Utrecht, The Netherlands (O.I.W., G.T.S., F.M.).; Abdul-Khaliq H; Saarland University Medical Center, Department of Pediatric Cardiology, Homburg, Germany (H.A.-K.).; Berger F; Unité Médico-Chirurgicale de Cardiologie Congénitale et Pédiatrique, Centre de référence Malformations Cardiaques Congénitales Complexes - M3C, Hôpital Necker Enfants Malades, APHP and Université Paris Descartes, Sorbonne Paris Cité, Paris, France (F.B., D.B.).; Charité, Universitätsmedizin Berlin, Department for Paediatric Cardiology, Germany (F.B.).; Dittrich S; Department of Pediatric Cardiology, Friedrich-Alexander-University of Erlangen-Nuernberg (FAU), Germany (S.D., J.M.).; Hitz MP; Department of Congenital Heart Disease and Pediatric Cardiology, University Hospital Schleswig-Holstein/Campus Kiel, DZHK (German Centre for Cardiovascular Research), partner site Hamburg/Kiel/Lübeck, Germany (M.-P.H.).; Department of Human Genetics, University Medical Center Schleswig-Holstein, Kiel, Germany (M.-P.H.).; Moosmann J; Department of Pediatric Cardiology, Friedrich-Alexander-University of Erlangen-Nuernberg (FAU), Germany (S.D., J.M.).; Riede FT; Leipzig Heart Center, Department of Pediatric Cardiology, University of Leipzig, Germany (F.-T.R.).; Schubert S; German Heart Center Berlin, Department of Congenital Heart Disease, Pediatric Cardiology, DZHK (German Centre for Cardiovascular Research), Partner Site Berlin, Germany (F.B., S.S.).; Heart and Diabetes Center NRW, Center of Congenital Heart Disease, Ruhr-University of Bochum, Bad Oeynhausen, Germany (S.S.).; Galan P; Sorbonne Paris Nord (Paris 13) University, Inserm U1153, Inrae U1125, Cnam, Nutritional Epidemiology Research Team (EREN), Epidemiology and Statistics Research Center - University of Paris (CRESS), Bobigny, France (P.G.).; Lathrop M; McGill Genome Centre and Department of Human Genetics, McGill University, Montreal, Québec, Canada (M.L., H.M.M.).; Munter HM; McGill Genome Centre and Department of Human Genetics, McGill University, Montreal, Québec, Canada (M.L., H.M.M.).; Al-Chalabi A; Maurice Wohl Clinical Neuroscience Institute, Department of Basic and Clinical Neuroscience, King's College London, United Kingdom (A.A.-C.).; Shaw CE; United Kingdom Dementia Research Institute Centre, Maurice Wohl Clinical Neuroscience Institute, Institute of Psychiatry, Psychology and Neuroscience, King's College London, United Kingdom (C.E.S.).; Centre for Brain Research, University of Auckland, New Zealand (C.E.S.).; Shaw PJ; Sheffield Institute for Translational Neuroscience (SITraN), University of Sheffield and NIHR Sheffield Biomedical Research Centre for Translational Neuroscience, United Kingdom (P.J.S.).; Morrison KE; Faculty of Medicine Health & Life Sciences, Queens University Belfast, United Kingdom (K.E.M.).; Veldink JH; Department of Neurology, UMC Utrecht Brain Center, University Medical Center Utrecht, Utrecht University, Utrecht, The Netherlands (J.H.V., L.H.v.d.B.).; van den Berg LH; Department of Neurology, UMC Utrecht Brain Center, University Medical Center Utrecht, Utrecht University, Utrecht, The Netherlands (J.H.V., L.H.v.d.B.).; Evans S; Skaggs School of Pharmacy and Pharmaceutical Sciences, University of California, San Diego (S.E.).; Nobrega MA; Department of Human Genetics, University of Chicago, IL (M.A.N., I.A.).; Aneas I; Department of Human Genetics, University of Chicago, IL (M.A.N., I.A.).; Radivojkov-Blagojević M; Helmholtz Zentrum Munich, Institut of Human Genetics, Neuherberg, Germany (M.R.-B., T.M.).; Meitinger T; Helmholtz Zentrum Munich, Institut of Human Genetics, Neuherberg, Germany (M.R.-B., T.M.).; Division of Cardiology, Department of Pediatrics, McMaster University, Hamilton, Ontario, Canada (T.M.).; Oechslin E; Peter Munk Cardiac Center, Toronto Congenital Cardiac Centre for Adults and University of Toronto, Canada (E.O.).; Mondal T; DZHK (German Centre for Cardiovascular Research), partner site Munich Heart Alliance, Germany (T.M.).; Bergin L; Division of Cardiology, Department of Medicine, London Health Sciences Centre, ON, Canada (L.B.).; Smythe JF; Division of Cardiology, Department of Pediatrics, Kingston General Hospital, ON, Canada (J.F.S.).; Altamirano-Diaz L; Western University, Ontario, Canada (L.A.-D.).; Lougheed J; Division of Cardiology, Department of Pediatrics, Children's Hospital of Eastern Ontario, Ottawa, Canada (J.L.).; Bouma BJ; Department of Clinical and Experimental Cardiology, Amsterdam University Medical Centers, University of Amsterdam, Heart Center, Amsterdam Cardiovascular Sciences, The Netherlands (D.S.-M., R.T., O.I.W., F.V.Y.T., N.L., E.M.L., L.B., B.J.B., B.J.M., C.R.B.).; Chaix MA; Department of Medicine, Cardiovascular Genetics Center, Montreal Heart Institute and Faculty of Medicine, Université de Montréal, Montreal, Québec, Canada (R.T., M.-A.C.).; Kline J; Department of Epidemiology, Mailman School of Public Health, Columbia University, NY (J.K.).; Bassett AS; Clinical Genetics Research Program, Centre for Addiction and Mental Health (A.S.B.).; Department of Psychiatry, University of Toronto, Toronto General Hospital, University Health Network, Ontario, Canada (A.S.B.).; Andelfinger G; Cardiovascular Genetics, Department of Pediatrics, CHU Sainte-Justine, Université de Montréal, Québec, Canada (C.P., G.A.).; van der Palen RLF; Division of Pediatric Cardiology, Department of Pediatrics (R.B., R.L.F.v.d.P.), Leiden University Medical Center, The Netherlands.; Bouvagnet P; CPDPN, Hôpital MFME, CHU Martinique, Fort de France, Martinique, France (P.B.).; Clur SB; Department of Pediatric Cardiology, Emma Children's Hospital Amsterdam University Medical Centers (AMC), The Netherlands (S.-A.B.C.).; Centre for Congenital Heart Disease Amsterdam-Leiden (CAHAL) (S.-A.B.C.).; Breckpot J; Hubrecht Institute-KNAW and University Medical Center Utrecht, the Netherlands (F.T., J.B., C.J.B.).; Center for Human Genetics University Hospitals KU Leuven, Belgium (J.B.).; Kerstjens-Frederikse WS; Department of Clinical Genetics, University Medical Center Groningen, University of Groningen, The Netherlands (W.S.K.-F.).; Winlaw DS; Heart Centre for Children, The Children's Hospital at Westmead and Sydney Medical School, Faculty of Medicine and Health, University of Sydney, Australia (G.M.B., D.S.W.).; Bauer UMM; National Register for Congenital Heart Defects, DZHK (German Centre for Cardiovascular Research), Berlin, Germany (U.M.M.B.).; Mital S; Hospital for Sick Children, University of Toronto, Ontario, Canada (S.M.).; Goldmuntz E; Division of Cardiology, Children's Hospital of Philadelphia and Department of Pediatrics, University of Pennsylvania Perelman School of Medicine, Philadelphia, PA (E.G.).; Keavney B; Division of Cardiovascular Sciences, School of Medical Sciences, Faculty of Biology, Medicine and Health, The University of Manchester and Manchester University NHS Foundation Trust, Manchester Academic Health Science Centre, United Kingdom (B.K.).; Bonnet D; Unité Médico-Chirurgicale de Cardiologie Congénitale et Pédiatrique, Centre de référence Malformations Cardiaques Congénitales Complexes - M3C, Hôpital Necker Enfants Malades, APHP and Université Paris Descartes, Sorbonne Paris Cité, Paris, France (F.B., D.B.).; Mulder BJ; Department of Clinical and Experimental Cardiology, Amsterdam University Medical Centers, University of Amsterdam, Heart Center, Amsterdam Cardiovascular Sciences, The Netherlands (D.S.-M., R.T., O.I.W., F.V.Y.T., N.L., E.M.L., L.B., B.J.B., B.J.M., C.R.B.).; Tanck MWT; Department of Clinical Epidemiology, Biostatistics and Bioinformatics, Amsterdam Public Health (APH), Amsterdam University Medical Centers, University of Amsterdam, The Netherlands (M.W.T.T.).; Bakkers J; Division of Heart and Lungs, Department of Medical Physiology, University Medical Center Utrecht, the Netherlands (J.B.).; Christoffels VM; Department of Medical Biology, Amsterdam University Medical Centers, University of Amsterdam, Amsterdam Cardiovascular Sciences, the Netherlands (F.M.B., J.H.v.W., P.B., A.I., K.v.D., V.M.C., A.V.P.).; Boogerd CJ; Hubrecht Institute-KNAW and University Medical Center Utrecht, the Netherlands (F.T., J.B., C.J.B.).; Postma AV; Department of Human Genetics, Amsterdam University Medical Centers, The Netherlands (D.S.-M., E.M.L., A.V.P.).; Department of Medical Biology, Amsterdam University Medical Centers, University of Amsterdam, Amsterdam Cardiovascular Sciences, the Netherlands (F.M.B., J.H.v.W., P.B., A.I., K.v.D., V.M.C., A.V.P.).; Bezzina CR; Department of Clinical and Experimental Cardiology, Amsterdam University Medical Centers, University of Amsterdam, Heart Center, Amsterdam Cardiovascular Sciences, The Netherlands (D.S.-M., R.T., O.I.W., F.V.Y.T., N.L., E.M.L., L.B., B.J.B., B.J.M., C.R.B.).

Publisher: Lippincott Williams & Wilkins Country of Publication: United States NLM ID: 0047103 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1524-4571 (Electronic) Linking ISSN: 00097330 NLM ISO Abbreviation: Circ Res Subsets: MEDLINE

Engwerda A; Department of Genetics, University of Groningen, University Medical Center Groningen, Groningen, The Netherlands.; Leenders EKSM; Department of Human Genetics, Radboud University Medical Center, Nijmegen, The Netherlands.; Frentz B; Vanboeijen, Assen, The Netherlands.; Terhal PA; Department of Genetics, Utrecht University Medical Center, Utrecht, The Netherlands.; Löhner K; Department of Genetics, University of Groningen, University Medical Center Groningen, Groningen, The Netherlands.; de Vries BBA; Department of Human Genetics, Radboud University Medical Center, Nijmegen, The Netherlands.; Dijkhuizen T; Department of Genetics, University of Groningen, University Medical Center Groningen, Groningen, The Netherlands.; Vos YJ; Department of Genetics, University of Groningen, University Medical Center Groningen, Groningen, The Netherlands.; Rinne T; Department of Human Genetics, Radboud University Medical Center, Nijmegen, The Netherlands.; van den Berg MP; Department of Cardiology, University of Groningen, University Medical Center Groningen, Groningen, The Netherlands.; Roofthooft MTR; Department of Paediatric Cardiology, University of Groningen, University Medical Center Groningen, Beatrix Children's Hospital, Groningen, The Netherlands.; Deelen P; Department of Genetics, University of Groningen, University Medical Center Groningen, Groningen, The Netherlands.; Department of Genetics, Utrecht University Medical Center, Utrecht, The Netherlands.; van Ravenswaaij-Arts CMA; Department of Genetics, University of Groningen, University Medical Center Groningen, Groningen, The Netherlands.; Kerstjens-Frederikse WS; Department of Genetics, University of Groningen, University Medical Center Groningen, Groningen, The Netherlands. w.s.kerstjens@umcg.nl.

Publisher: Nature Publishing Group Country of Publication: England NLM ID: 9302235 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1476-5438 (Electronic) Linking ISSN: 10184813 NLM ISO Abbreviation: Eur J Hum Genet Subsets: MEDLINE

Imafidon ME; Department of Genetics, University of Groningen, University Medical Centre Groningen, Groningen, Netherlands.; Sikkema-Raddatz B; Department of Genetics, University of Groningen, University Medical Centre Groningen, Groningen, Netherlands.; Abbott KM; Department of Genetics, University of Groningen, University Medical Centre Groningen, Groningen, Netherlands.; Meems-Veldhuis MT; Department of Genetics, University of Groningen, University Medical Centre Groningen, Groningen, Netherlands.; Swertz MA; Department of Genetics, University of Groningen, University Medical Centre Groningen, Groningen, Netherlands.; Genomics Coordination Center, University of Groningen, University Medical Center Groningen, Groningen, Netherlands.; van der Velde KJ; Department of Genetics, University of Groningen, University Medical Centre Groningen, Groningen, Netherlands.; Genomics Coordination Center, University of Groningen, University Medical Center Groningen, Groningen, Netherlands.; Beunders G; Department of Genetics, University of Groningen, University Medical Centre Groningen, Groningen, Netherlands.; Bos DK; Department of Genetics, University of Groningen, University Medical Centre Groningen, Groningen, Netherlands.; Knoers NVAM; Department of Genetics, University of Groningen, University Medical Centre Groningen, Groningen, Netherlands.; Kerstjens-Frederikse WS; Department of Genetics, University of Groningen, University Medical Centre Groningen, Groningen, Netherlands.; van Diemen CC; Department of Genetics, University of Groningen, University Medical Centre Groningen, Groningen, Netherlands.

Publisher: Frontiers Media SA Country of Publication: Switzerland NLM ID: 101615492 Publication Model: eCollection Cited Medium: Print ISSN: 2296-2360 (Print) Linking ISSN: 22962360 NLM ISO Abbreviation: Front Pediatr Subsets: PubMed not MEDLINE