부산대학교 도서관

Erkut E; Somerville C; Schwartz MLB; McDonald L; Ding Q; Moran OM; Chen X; Manshaei R; Riedijk AS; Schnürer MT; Koboldt DC; Antonarakis SE; Bedoukian EC; Blanc X; Conlin LK; Cox H; Diderich KEM; Dingmann B; Dubourg C; Elmslie F; Escobar LF; Gosselin R; Guillen Sacoto MJ; Haag CD; Herzig L; Jeeneea R; Kenia P; Kolokotronis K; Kopps AM; Kupper C; Lees H; Leonard J; Levy J; Littlejohn R; Mayer D; McBride KL; McLean SD; Pattani N; Perrin L; Pingault V; Quelin C; Ranza E; Rauch A; Reichert SL; Rosmaninho-Salgado J; Skraban C; Sousa S; Stuebben M; Zanoni P; Kim RH; Scott IC; Jobling RK

Publisher: Cell Press Country of Publication: United States NLM ID: 0370475 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1537-6605 (Electronic) Linking ISSN: 00029297 NLM ISO Abbreviation: Am J Hum Genet Subsets: MEDLINE; In Process

Assmann JLJC; Department of Clinical Chemistry Maasstad Hospital Rotterdam The Netherlands.; Van Opstal D; Department of Clinical Genetics Erasmus MC University Medical Center Rotterdam The Netherlands.; Diderich KEM; Department of Clinical Genetics Erasmus MC University Medical Center Rotterdam The Netherlands.; Larmonie N; Department of Hematology Erasmus MC Cancer Institute University Medical Center Rotterdam Rotterdam The Netherlands.; Sandberg Y; Department of Internal Medicine Maasstad Hospital Rotterdam The Netherlands.

Publisher: John Wiley & Sons, Inc Country of Publication: United States NLM ID: 101761942 Publication Model: eCollection Cited Medium: Internet ISSN: 2688-6146 (Electronic) Linking ISSN: 26886146 NLM ISO Abbreviation: EJHaem Subsets: PubMed not MEDLINE

Erkut E; Program in Developmental, Stem Cell & Cancer Biology, The Hospital for Sick Children, Toronto, ON, Canada; Department of Molecular Genetics, University of Toronto, Toronto, ON, Canada.; Somerville C; Ted Rogers Centre for Heart Research, Cardiac Genome Clinic, The Hospital for Sick Children, Toronto, ON, Canada.; Schwartz MLB; Ted Rogers Centre for Heart Research, Cardiac Genome Clinic, The Hospital for Sick Children, Toronto, ON, Canada; Division of Clinical and Metabolic Genetics, Department of Pediatrics, The Hospital for Sick Children, Toronto, ON, Canada.; McDonald L; Program in Developmental, Stem Cell & Cancer Biology, The Hospital for Sick Children, Toronto, ON, Canada.; Ding Q; Ted Rogers Centre for Heart Research, Cardiac Genome Clinic, The Hospital for Sick Children, Toronto, ON, Canada.; Moran OM; Ted Rogers Centre for Heart Research, Cardiac Genome Clinic, The Hospital for Sick Children, Toronto, ON, Canada; Division of Clinical and Metabolic Genetics, Department of Pediatrics, The Hospital for Sick Children, Toronto, ON, Canada.; Chen X; Ted Rogers Centre for Heart Research, Cardiac Genome Clinic, The Hospital for Sick Children, Toronto, ON, Canada.; Manshaei R; Ted Rogers Centre for Heart Research, Cardiac Genome Clinic, The Hospital for Sick Children, Toronto, ON, Canada.; Riedijk AS; Program in Developmental, Stem Cell & Cancer Biology, The Hospital for Sick Children, Toronto, ON, Canada.; Schnürer MT; Program in Developmental, Stem Cell & Cancer Biology, The Hospital for Sick Children, Toronto, ON, Canada.; Koboldt DC; The Steve and Cindy Rasmussen Institute for Genomic Medicine at Nationwide Children's Hospital, Columbus, OH, USA.; Antonarakis SE; Medigenome, Swiss Institute of Genomic Medicine, Geneva, Switzerland.; Bedoukian EC; Children's Hospital of Philadelphia, Philadelphia, PA, USA.; Blanc X; Medigenome, Swiss Institute of Genomic Medicine, Geneva, Switzerland.; Conlin LK; Children's Hospital of Philadelphia, Philadelphia, PA, USA.; Cox H; Birmingham Women's and Children's Hospital, Birmingham, UK.; Diderich KEM; Department of Clinical Genetics, Erasmus MC, Rotterdam, the Netherlands.; Dingmann B; Seattle Children's Hospital, University of Washington, Seattle, WA, USA.; Dubourg C; Service de Génétique Moléculaire et Génomique, CHU Pontchaillou, Rennes, France.; Elmslie F; St George's University Hospitals NHS Foundation Trust, London, UK.; Escobar LF; Medical Genetics, Peyton Manning Children's Hospital, Ascension Health, Indianapolis, IN, USA.; Gosselin R; Division of Genetic and Genomic Medicine at Nationwide Children's Hospital, Columbus, OH, USA.; Guillen Sacoto MJ; GeneDx LLC, Gaithersburg, MD, USA.; Haag CD; Medical Genetics, Ascension St. Vincent, Indianapolis, IN, USA.; Herzig L; Seattle Children's Hospital, University of Washington, Seattle, WA, USA.; Jeeneea R; Birmingham Women's and Children's Hospital, Birmingham, UK.; Kenia P; Birmingham Women's and Children's NHS Trust, Birmingham, UK.; Kolokotronis K; Institute of Medical Genetics, University of Zurich, Zurich, Switzerland.; Kopps AM; Genetica AG, Zurich, Switzerland.; Kupper C; Institute of Medical Genetics, University of Zurich, Zurich, Switzerland.; Lees H; Exeter Genomics Laboratory, Royal Devon University Healthcare NHS Foundation Trust, Exeter, UK.; Leonard J; Children's Hospital of Philadelphia, Philadelphia, PA, USA.; Levy J; Genetics Department, AP-HP, Robert Debré University Hospital, Paris, France.; Littlejohn R; Baylor College of Medicine, Houston, TX, USA.; Mayer D; Genetica AG, Zurich, Switzerland.; McLean SD; Baylor College of Medicine, Houston, TX, USA.; Pattani N; St George's University Hospitals NHS Foundation Trust, London, UK.; Perrin L; Genetics Department, AP-HP, Robert Debré University Hospital, Paris, France.; Pingault V; Service de Médecine Génomique des Maladies Rares, AP-HP, Hôpital Necker, Université Paris Cité, Paris, France.; Quelin C; Service de Génétique Clinique, CLAD Ouest, CHU Rennes, Rennes, France.; Ranza E; Medigenome, Swiss Institute of Genomic Medicine, Geneva, Switzerland.; Rauch A; Institute of Medical Genetics, University of Zurich, Zurich, Switzerland.; Reichert SL; Children's Hospital of Philadelphia, Philadelphia, PA, USA.; Rosmaninho-Salgado J; Medical Genetics Unit, Hospital Pediátrico, Centro Hospitalar e Universitário de Coimbra, Coimbra, Portugal.; Skraban C; Children's Hospital of Philadelphia, Philadelphia, PA, USA.; Sousa S; Medical Genetics Unit, Hospital Pediátrico, Centro Hospitalar e Universitário de Coimbra, Coimbra, Portugal.; Stuebben M; Baylor College of Medicine, Houston, TX, USA.; Zanoni P; Genetica AG, Zurich, Switzerland; Luzerner Kantonsspital, Lucerne, Switzerland.; Kim RH; Ted Rogers Centre for Heart Research, Cardiac Genome Clinic, The Hospital for Sick Children, Toronto, ON, Canada; Division of Clinical and Metabolic Genetics, Department of Pediatrics, The Hospital for Sick Children, Toronto, ON, Canada; Fred A. Litwin Family Centre in Genetic Medicine, University Health Network, Department of Medicine, University Health Network, Toronto, ON, Canada.; Scott IC; Program in Developmental, Stem Cell & Cancer Biology, The Hospital for Sick Children, Toronto, ON, Canada; Department of Molecular Genetics, University of Toronto, Toronto, ON, Canada. Electronic address: ian.scott@sickkids.ca.; Jobling RK; Ted Rogers Centre for Heart Research, Cardiac Genome Clinic, The Hospital for Sick Children, Toronto, ON, Canada; Division of Clinical and Metabolic Genetics, Department of Pediatrics, The Hospital for Sick Children, Toronto, ON, Canada; Genome Diagnostics, Department of Pediatric Laboratory Medicine, The Hospital for Sick Children, Toronto, ON, Canada. Electronic address: rebekah.jobling@sickkids.ca.

Publisher: Cell Press Country of Publication: United States NLM ID: 0370475 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1537-6605 (Electronic) Linking ISSN: 00029297 NLM ISO Abbreviation: Am J Hum Genet Subsets: MEDLINE

Iglesias AI; Department of Clinical Genetics Erasmus MC, University Medical Center Rotterdam, Rotterdam, the Netherlands.; Van Opstal D; Department of Clinical Genetics Erasmus MC, University Medical Center Rotterdam, Rotterdam, the Netherlands.; Thurik FF; Department of Clinical Genetics Erasmus MC, University Medical Center Rotterdam, Rotterdam, the Netherlands.; Drost M; Department of Clinical Genetics Erasmus MC, University Medical Center Rotterdam, Rotterdam, the Netherlands.; Weerts MJA; Department of Clinical Genetics Erasmus MC, University Medical Center Rotterdam, Rotterdam, the Netherlands.; Joosten M; Department of Clinical Genetics Erasmus MC, University Medical Center Rotterdam, Rotterdam, the Netherlands.; Diderich KEM; Department of Clinical Genetics Erasmus MC, University Medical Center Rotterdam, Rotterdam, the Netherlands.; van der Schoot V; Department of Clinical Genetics Erasmus MC, University Medical Center Rotterdam, Rotterdam, the Netherlands.; van den Born M; Department of Clinical Genetics Erasmus MC, University Medical Center Rotterdam, Rotterdam, the Netherlands.; Galjaard RH; Department of Clinical Genetics Erasmus MC, University Medical Center Rotterdam, Rotterdam, the Netherlands.; van Veen S; Department of Clinical Genetics Erasmus MC, University Medical Center Rotterdam, Rotterdam, the Netherlands.; Goedegebuur-Zwalua E; Department of Clinical Genetics Erasmus MC, University Medical Center Rotterdam, Rotterdam, the Netherlands.; de Weerd S; Department of Obstetrics and Gynecology, Albert Schweitzer Hospital, Dordrecht, the Netherlands.; Dijkman A; Department of Obstetrics and Gynecology, Reinier de Graaf Gasthuis, Delft, the Netherlands.; Papatsonis D; Department of Gynecology, Amphia Hospital, Breda, the Netherlands.; Cornette JMJ; Department of Obstetrics and Gynaecology Erasmus MC, University Medical Center Rotterdam, Rotterdam, the Netherlands.; Galjaard S; Department of Obstetrics and Gynaecology Erasmus MC, University Medical Center Rotterdam, Rotterdam, the Netherlands.; Knapen MFCM; Department of Obstetrics and Gynaecology Erasmus MC, University Medical Center Rotterdam, Rotterdam, the Netherlands.; Prinsen K; Department of Obstetrics and Gynaecology Erasmus MC, University Medical Center Rotterdam, Rotterdam, the Netherlands.; Go ATJI; Department of Obstetrics and Gynaecology Erasmus MC, University Medical Center Rotterdam, Rotterdam, the Netherlands.; Stuurman KE; Department of Clinical Genetics Erasmus MC, University Medical Center Rotterdam, Rotterdam, the Netherlands.; Srebniak MI; Department of Clinical Genetics Erasmus MC, University Medical Center Rotterdam, Rotterdam, the Netherlands.

Publisher: Wiley Country of Publication: England NLM ID: 8106540 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1097-0223 (Electronic) Linking ISSN: 01973851 NLM ISO Abbreviation: Prenat Diagn Subsets: MEDLINE

de Koning MA; Department of Clinical Genetics, Leiden University Medical Center, Leiden, the Netherlands.; Srebniak MI; Department of Clinical Genetics, Erasmus Medical Center, Rotterdam, the Netherlands.; Oldekamp EJ; Department of Medical Ethics and Health Law, Leiden University Medical Center, Leiden, the Netherlands.; Hahn D; Department of Clinical Genetics, Leiden University Medical Center, Leiden, the Netherlands.; Diderich KEM; Department of Clinical Genetics, Erasmus Medical Center, Rotterdam, the Netherlands.; Bruggenwirth HT; Department of Clinical Genetics, Erasmus Medical Center, Rotterdam, the Netherlands.; Santen GWE; Department of Clinical Genetics, Leiden University Medical Center, Leiden, the Netherlands.; Hoffer MJV; Department of Clinical Genetics, Leiden University Medical Center, Leiden, the Netherlands.; Suerink M; Department of Clinical Genetics, Leiden University Medical Center, Leiden, the Netherlands. m.suerink@lumc.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

Ward, Scott K; Wadley, Alexandrea; Tsai, Chun-Hui Anne; Benke, Paul J; Emrick, Lisa; Fisher, Kristen; Houck, Kimberly M; Dai, Hongzheng; Undiagnosed Diseases Network; Guillen Sacoto, Maria J; Craigen, William; Glaser, Kimberly; Murdock, David R; Rohena, Luis; Diderich, Karin E M; Bruggenwirth, Hennie T; Lee, Brendan; Bacino, Carlos; Burrage, Lindsay C; Rosenfeld, Jill A

American Journal of Medical Genetics Part A. 194:17-30

Diderich KEM; Department of Clinical Genetics, Erasmus MC University Medical Center, Rotterdam, The Netherlands.; Bruggenwirth HT; Department of Clinical Genetics, Erasmus MC University Medical Center, Rotterdam, The Netherlands.; Joosten M; Department of Clinical Genetics, Erasmus MC University Medical Center, Rotterdam, The Netherlands.; Thurik F; Department of Clinical Genetics, Erasmus MC University Medical Center, Rotterdam, The Netherlands.; Mijalkovic J; Department of Clinical Genetics, Erasmus MC University Medical Center, Rotterdam, The Netherlands.; Polak M; Department of Psychology, Education & Child Studies (DPECS), Erasmus University Rotterdam, Rotterdam, The Netherlands.; Kromosoeto J; Department of Clinical Genetics, Erasmus MC University Medical Center, Rotterdam, The Netherlands.; Somers-Bolman GM; Department of Clinical Genetics, Erasmus MC University Medical Center, Rotterdam, The Netherlands.; van den Born M; Department of Clinical Genetics, Erasmus MC University Medical Center, Rotterdam, The Netherlands.; Drost M; Department of Clinical Genetics, Erasmus MC University Medical Center, Rotterdam, The Netherlands.; Galjaard RJH; Department of Clinical Genetics, Erasmus MC University Medical Center, Rotterdam, The Netherlands.; Galjaard S; Department of Obstetrics and Gynaecology, Erasmus MC, University Medical Centre Rotterdam, Rotterdam, The Netherlands.; Hoefsloot LH; Department of Clinical Genetics, Erasmus MC University Medical Center, Rotterdam, The Netherlands.; Knapen MFCM; Department of Obstetrics and Gynaecology, Erasmus MC, University Medical Centre Rotterdam, Rotterdam, The Netherlands.; van Minkelen R; Department of Clinical Genetics, Erasmus MC University Medical Center, Rotterdam, The Netherlands.; van der Schoot V; Department of Clinical Genetics, Erasmus MC University Medical Center, Rotterdam, The Netherlands.; van Slegtenhorst MA; Department of Clinical Genetics, Erasmus MC University Medical Center, Rotterdam, The Netherlands.; Sleutels F; Department of Clinical Genetics, Erasmus MC University Medical Center, Rotterdam, The Netherlands.; Stuurman KE; Department of Clinical Genetics, Erasmus MC University Medical Center, Rotterdam, The Netherlands.; Weerts MJA; Department of Clinical Genetics, Erasmus MC University Medical Center, Rotterdam, The Netherlands.; Go ATJI; Department of Obstetrics and Gynaecology, Erasmus MC, University Medical Centre Rotterdam, Rotterdam, The Netherlands.; Wilke M; Department of Clinical Genetics, Erasmus MC University Medical Center, Rotterdam, The Netherlands.; Srebniak MI; Department of Clinical Genetics, Erasmus MC University Medical Center, Rotterdam, The Netherlands.

Publisher: Wiley Country of Publication: England NLM ID: 8106540 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1097-0223 (Electronic) Linking ISSN: 01973851 NLM ISO Abbreviation: Prenat Diagn Subsets: MEDLINE

Schot R; Department of Clinical Genetics, Erasmus MC University Medical Center, Rotterdam, The Netherlands.; Discovery Unit, Department of Clinical Genetics, Erasmus MC University Medical Center, Rotterdam, The Netherlands.; Ferraro F; Department of Clinical Genetics, Erasmus MC University Medical Center, Rotterdam, The Netherlands.; Geeven G; Department of Clinical Genetics, Erasmus MC University Medical Center, Rotterdam, The Netherlands.; Diderich KEM; Department of Clinical Genetics, Erasmus MC University Medical Center, Rotterdam, The Netherlands.; Barakat TS; Department of Clinical Genetics, Erasmus MC University Medical Center, Rotterdam, The Netherlands.; Discovery Unit, Department of Clinical Genetics, Erasmus MC University Medical Center, Rotterdam, The Netherlands.

Publisher: Munksgaard Country of Publication: Denmark NLM ID: 0253664 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1399-0004 (Electronic) Linking ISSN: 00099163 NLM ISO Abbreviation: Clin Genet Subsets: MEDLINE

Weller K; Department of Obstetrics and Gynecology, Division of Obstetrics and Fetal Medicine, Erasmus MC University Medical Center, Rotterdam, The Netherlands.; Westra D; Department of Human Genetics, Radboud University Medical Center, Nijmegen, The Netherlands.; Peters NCJ; Department of Obstetrics and Gynecology, Division of Obstetrics and Fetal Medicine, Erasmus MC University Medical Center, Rotterdam, The Netherlands.; Wilke M; Department of Clinical Genetics, Erasmus MC University Medical Center, Rotterdam, The Netherlands.; Van Opstal D; Department of Clinical Genetics, Erasmus MC University Medical Center, Rotterdam, The Netherlands.; Feenstra I; Department of Human Genetics, Radboud University Medical Center, Nijmegen, The Netherlands.; van Drongelen J; Department of Obstetrics and Gynecology, Radboud University Medical Center, Nijmegen, The Netherlands.; Eggink AJ; Department of Obstetrics and Gynecology, Division of Obstetrics and Fetal Medicine, Erasmus MC University Medical Center, Rotterdam, The Netherlands.; Diderich KEM; Department of Clinical Genetics, Erasmus MC University Medical Center, Rotterdam, The Netherlands.; DeKoninck PLJ; Department of Obstetrics and Gynecology, Division of Obstetrics and Fetal Medicine, Erasmus MC University Medical Center, Rotterdam, The Netherlands.

Publisher: Wiley Country of Publication: England NLM ID: 8106540 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1097-0223 (Electronic) Linking ISSN: 01973851 NLM ISO Abbreviation: Prenat Diagn Subsets: MEDLINE

Ginjaar IB; Department of Clinical Genetics, Leiden University Medical Center, Leiden, the Netherlands.; Kriek M; Department of Clinical Genetics, Leiden University Medical Center, Leiden, the Netherlands.; Hoffer MJV; Department of Clinical Genetics, Leiden University Medical Center, Leiden, the Netherlands.; Oegema R; Department of Genetics, University Medical Center Utrecht, Utrecht, the Netherlands.; van Binsbergen E; Department of Genetics, University Medical Center Utrecht, Utrecht, the Netherlands.; Diderich KEM; Department of Clinical Genetics, Erasmus University Medical Center, Rotterdam, the Netherlands.; van Zutven LJCM; Department of Clinical Genetics, Erasmus University Medical Center, Rotterdam, the Netherlands.; Duijkers FAM; Department of Clinical Genetics and Genome Diagnostics, Amsterdam University Medical Center, Amsterdam, the Netherlands.; Knegt AC; Department of Clinical Genetics and Genome Diagnostics, Amsterdam University Medical Center, Amsterdam, the Netherlands.; Erasmus CE; Department of Paediatric Neurology, Radboud University Medical Center - Amalia Children's Hospital, Nijmegen, the Netherlands.; de Leeuw N; Department of Human Genetics, Radboud University Medical Center, Nijmegen, the Netherlands.; Verheij JBGM; Department of Genetics, University Medical Center Groningen, Groningen, the Netherlands.; Dijkhuizen T; Department of Genetics, University Medical Center Groningen, Groningen, the Netherlands.; van Duyvenvoorde HA; Department of Clinical Genetics, Leiden University Medical Center, Leiden, the Netherlands. Electronic address: H.A.van_Duyvenvoorde@lumc.nl.

Publisher: Pergamon Press Country of Publication: England NLM ID: 9111470 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1873-2364 (Electronic) Linking ISSN: 09608966 NLM ISO Abbreviation: Neuromuscul Disord Subsets: MEDLINE

Valovičová K; Department of Clinical Genetics, Erasmus MC University Medical Center, Rotterdam, the Netherlands.; Section of Genetics and Molecular Biology, Department of Experimental Biology, Faculty of Science, Masaryk University, Brno, Czech Republic.; Department of Internal Medicine, Hematology and Oncology, University Hospital Brno and Faculty of Medicine, Masaryk University, Brno, Czech Republic.; Diderich KEM; Department of Clinical Genetics, Erasmus MC University Medical Center, Rotterdam, the Netherlands.; Bramer WM; Medical Library, Erasmus MC University Medical Center, Rotterdam, the Netherlands.; Lamballais S; Department of Clinical Genetics, Erasmus MC University Medical Center, Rotterdam, the Netherlands.; Srebniak MI; Department of Clinical Genetics, Erasmus MC University Medical Center, Rotterdam, the Netherlands.

Publisher: Wiley Country of Publication: England NLM ID: 8106540 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1097-0223 (Electronic) Linking ISSN: 01973851 NLM ISO Abbreviation: Prenat Diagn Subsets: MEDLINE

Srebniak MI; Department of Clinical Genetics, Erasmus MC, University Medical Centre Rotterdam, Rotterdam, the Netherlands.; Weerts M; Department of Clinical Genetics, Erasmus MC, University Medical Centre Rotterdam, Rotterdam, the Netherlands.; Joosten M; Department of Clinical Genetics, Erasmus MC, University Medical Centre Rotterdam, Rotterdam, the Netherlands.; Drost M; Department of Clinical Genetics, Erasmus MC, University Medical Centre Rotterdam, Rotterdam, the Netherlands.; Galjaard RJ; Department of Clinical Genetics, Erasmus MC, University Medical Centre Rotterdam, Rotterdam, the Netherlands.; van der Schoot V; Department of Clinical Genetics, Erasmus MC, University Medical Centre Rotterdam, Rotterdam, the Netherlands.; van den Born M; Department of Clinical Genetics, Erasmus MC, University Medical Centre Rotterdam, Rotterdam, the Netherlands.; Knapen MFCM; Department of Obstetrics and Gynaecology, Erasmus MC, University Medical Centre Rotterdam, Rotterdam, the Netherlands.; Prinsen K; Department of Obstetrics and Gynaecology, Erasmus MC, University Medical Centre Rotterdam, Rotterdam, the Netherlands.; Cornette JMJ; Department of Obstetrics and Gynaecology, Erasmus MC, University Medical Centre Rotterdam, Rotterdam, the Netherlands.; DeKoninck PLJ; Department of Obstetrics and Gynaecology, Erasmus MC, University Medical Centre Rotterdam, Rotterdam, the Netherlands.; Papatsonis D; Department of Gynecology, Amphia Hospital, Breda, the Netherlands.; Spaan J; Department of Gynecology, Amphia Hospital, Breda, the Netherlands.; Dijkman A; Department of Obstetrics and Gynecology, Reinier de Graaf Gasthuis, Delft, the Netherlands.; de Weerd S; Department of Obstetrics and Gynecology, Albert Schweitzer Hospital, Dordrecht, the Netherlands.; Go ATJI; Department of Obstetrics and Gynaecology, Erasmus MC, University Medical Centre Rotterdam, Rotterdam, the Netherlands.; Diderich KEM; Department of Clinical Genetics, Erasmus MC, University Medical Centre Rotterdam, Rotterdam, the Netherlands.; Van Opstal D; Department of Clinical Genetics, Erasmus MC, University Medical Centre Rotterdam, Rotterdam, the Netherlands.

Publisher: Wiley Country of Publication: England NLM ID: 8106540 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1097-0223 (Electronic) Linking ISSN: 01973851 NLM ISO Abbreviation: Prenat Diagn Subsets: MEDLINE

van der Sluijs, Pleuntje J; Joosten, Marieke; Alby, Caroline; Attié-Bitach, Tania; Gilmore, Kelly; Dubourg, Christele; Fradin, Mélanie; Wang, Tianyun; Kurtz-Nelson, Evangeline C; Ahlers, Kaitlyn P; Arts, Peer; Barnett, Christopher P; Ashfaq, Myla; Baban, Anwar; van den Born, Myrthe; Borrie, Sarah; Busa, Tiffany; Byrne, Alicia; Carriero, Miriam; Cesario, Claudia; Chong, Karen; Cueto-González, Anna Maria; Dempsey, Jennifer C; Diderich, Karin E M; Doherty, Dan; Farholt, Stense; Gerkes, Erica H; Gorokhova, Svetlana; Govaerts, Lutgarde C P; Gregersen, Pernille A; Hickey, Scott E; Lefebvre, Mathilde; Mari, Francesca; Martinovic, Jelena; Northrup, Hope; O'Leary, Melanie; Parbhoo, Kareesma; Patrier, Sophie; Popp, Bernt; Santos-Simarro, Fernando; Stoltenburg, Corinna; Thauvin-Robinet, Christel; Thompson, Elisabeth; Vulto-van Silfhout, Anneke T; Zahir, Farah R; Scott, Hamish S; Earl, Rachel K; Eichler, Evan E; Vora, Neeta L; Wilnai, Yael; Giordano, Jessica L; Wapner, Ronald J; Rosenfeld, Jill A; Haak, Monique C; Santen, Gijs W E

Repositorio Institucional de la Consejería de Sanidad de la Comunidad de Madrid
Consejería de Sanidad de la Comunidad de Madrid
Genetics in Medicine, 24, 8, pp. 1753-1760
van der Sluijs, P J, Joosten, M, Alby, C, Attié-Bitach, T, Gilmore, K, Dubourg, C, Fradin, M, Wang, T, Kurtz-Nelson, E C, Ahlers, K P, Arts, P, Barnett, C P, Ashfaq, M, Baban, A, van den Born, M, Borrie, S, Busa, T, Byrne, A, Carriero, M, Cesario, C, Chong, K, Cueto-González, A M, Dempsey, J C, Diderich, K E M, Doherty, D, Farholt, S, Gerkes, E H, Gorokhova, S, Govaerts, L C P, Gregersen, P A, Hickey, S E, Lefebvre, M, Mari, F, Martinovic, J, Northrup, H, O'Leary, M, Parbhoo, K, Patrier, S, Popp, B, Santos-Simarro, F, Stoltenburg, C, Thauvin-Robinet, C, Thompson, E, Vulto-van Silfhout, A T, Zahir, F R, Scott, H S, Earl, R K, Eichler, E E, Vora, N L, Wilnai, Y, Giordano, J L, Wapner, R J, Rosenfeld, J A, Haak, M C & Santen, G W E 2022, 'Discovering a new part of the phenotypic spectrum of Coffin-Siris syndrome in a fetal cohort', Genetics in Medicine, vol. 24, no. 8, pp. 1753-1760. https://doi.org/10.1016/j.gim.2022.04.010

Donze SH; Department of Clinical Genetics, ErasmusMC, University Medical Center, Rotterdam, The Netherlands.; Srebniak MI; Department of Clinical Genetics, ErasmusMC, University Medical Center, Rotterdam, The Netherlands.; Diderich KEM; Department of Clinical Genetics, ErasmusMC, University Medical Center, Rotterdam, The Netherlands.; van den Born M; Department of Clinical Genetics, ErasmusMC, University Medical Center, Rotterdam, The Netherlands.; Galjaard RJ; Department of Clinical Genetics, ErasmusMC, University Medical Center, Rotterdam, The Netherlands.; Govaerts LCP; Department of Clinical Genetics, ErasmusMC, University Medical Center, Rotterdam, The Netherlands.; van der Schoot V; Department of Clinical Genetics, ErasmusMC, University Medical Center, Rotterdam, The Netherlands.; Knapen MFCM; Department of Obstetrics and Prenatal Medicine, ErasmusMC, University Medical Center, Rotterdam, The Netherlands.; Joosten M; Department of Clinical Genetics, ErasmusMC, University Medical Center, Rotterdam, The Netherlands.; Van Opstal D; Department of Clinical Genetics, ErasmusMC, University Medical Center, Rotterdam, The Netherlands.

Publisher: Wiley Country of Publication: England NLM ID: 8106540 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1097-0223 (Electronic) Linking ISSN: 01973851 NLM ISO Abbreviation: Prenat Diagn Subsets: MEDLINE

Eggenhuizen GM; Department of Obstetrics and Gynecology, Erasmus MC, University Medical Center, Rotterdam, The Netherlands.; Go ATJI; Department of Obstetrics and Gynecology, Erasmus MC, University Medical Center, Rotterdam, The Netherlands.; Sauter Z; Department of Obstetrics and Gynecology, Erasmus MC, University Medical Center, Rotterdam, The Netherlands.; Hoffer MJV; Department of Clinical Genetics, Leiden University Medical Center, Leiden, The Netherlands.; Haak MC; Department of Obstetrics and Gynecology, Leiden University Medical Center, Leiden, The Netherlands.; Geeven G; Department of Clinical Genetics, Erasmus MC, University Medical Center, Rotterdam, The Netherlands.; Diderich KEM; Department of Clinical Genetics, Erasmus MC, University Medical Center, Rotterdam, The Netherlands.; Joosten M; Department of Clinical Genetics, Erasmus MC, University Medical Center, Rotterdam, The Netherlands.; van den Born M; Department of Clinical Genetics, Erasmus MC, University Medical Center, Rotterdam, The Netherlands.; Srebniak MI; Department of Clinical Genetics, Erasmus MC, University Medical Center, Rotterdam, The Netherlands.; Van Opstal D; Department of Clinical Genetics, Erasmus MC, University Medical Center, Rotterdam, The Netherlands.

Publisher: Wiley Country of Publication: England NLM ID: 8106540 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1097-0223 (Electronic) Linking ISSN: 01973851 NLM ISO Abbreviation: Prenat Diagn Subsets: MEDLINE

van Bever Y; DSD-Expert Center, Erasmus MC, Sophia Children's Hospital, University Medical Center, Rotterdam, The Netherlands.; Department of Clinical Genetics, Erasmus MC, University Medical Center, Rotterdam, The Netherlands.; Groenenberg IAL; DSD-Expert Center, Erasmus MC, Sophia Children's Hospital, University Medical Center, Rotterdam, The Netherlands.; Department of Obstetrics and Prenatal Medicine, Erasmus MC, University Medical Center, Rotterdam, The Netherlands.; Knapen MFCM; DSD-Expert Center, Erasmus MC, Sophia Children's Hospital, University Medical Center, Rotterdam, The Netherlands.; Department of Obstetrics and Prenatal Medicine, Erasmus MC, University Medical Center, Rotterdam, The Netherlands.; Dessens AB; DSD-Expert Center, Erasmus MC, Sophia Children's Hospital, University Medical Center, Rotterdam, The Netherlands.; Department of Child and Adolescent Psychiatry, Erasmus MC, University Medical Center Rotterdam, The Netherlands.; Hannema SE; DSD-Expert Center, Erasmus MC, Sophia Children's Hospital, University Medical Center, Rotterdam, The Netherlands.; Department of Pediatric Endocrinology, Erasmus MC, University Medical Center Rotterdam, The Netherlands.; Department of Pediatrics, Leiden University Medical Center, Leiden, The Netherlands.; Department of Paediatric Endocrinology, Amsterdam University Medical Center, Amsterdam, The Netherlands.; Wolffenbuttel KP; DSD-Expert Center, Erasmus MC, Sophia Children's Hospital, University Medical Center, Rotterdam, The Netherlands.; Department of Urology and Pediatric Urology, Erasmus MC, University Medical Center Rotterdam, The Netherlands.; Diderich KEM; Department of Clinical Genetics, Erasmus MC, University Medical Center, Rotterdam, The Netherlands.; Hoefsloot LH; Department of Clinical Genetics, Erasmus MC, University Medical Center, Rotterdam, The Netherlands.; Srebniak MI; Department of Clinical Genetics, Erasmus MC, University Medical Center, Rotterdam, The Netherlands.; Bruggenwirth HT; DSD-Expert Center, Erasmus MC, Sophia Children's Hospital, University Medical Center, Rotterdam, The Netherlands.; Department of Clinical Genetics, Erasmus MC, University Medical Center, Rotterdam, The Netherlands.

Publisher: Wiley Country of Publication: England NLM ID: 8106540 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1097-0223 (Electronic) Linking ISSN: 01973851 NLM ISO Abbreviation: Prenat Diagn Subsets: MEDLINE

van der Meij, Karuna R M; Sistermans, Erik A; Macville, Merryn V E; Stevens, Servi J C; Bax, Caroline J; Bekker, Mireille N; Bilardo, Caterina M; Boon, Elles M J; Boter, Marjan; Diderich, Karin E M; de Die-Smulders, Christine E M; Duin, Leonie K; Faas, Brigitte H W; Feenstra, Ilse; Haak, Monique C; Hoffer, Mariëtte J V; den Hollander, Nicolette S; Hollink, Iris H I M; Jehee, Fernanda S; Knapen, Maarten F C M; Kooper, Angelique J A; van Langen, Irene M; Lichtenbelt, Klaske D; Linskens, Ingeborg H; van Maarle, Merel C; Oepkes, Dick; Pieters, Mijntje J; Schuring-Blom, G Heleen; Sikkel, Esther; Sikkema-Raddatz, Birgit; Smeets, Dominique F C M; Srebniak, Malgorzata I; Suijkerbuijk, Ron F; Tan-Sindhunata, Gita M; van der Ven, A Jeanine E M; van Zelderen-Bhola, Shama L; Henneman, Lidewij; Galjaard, Robert-Jan H; Van Opstal, Diane; Weiss, Marjan M

van der Meij, K R M, Sistermans, E A, Macville, M V E, Stevens, S J C, Bax, C J, Bekker, M N, Bilardo, C M, Boon, E M J, Boter, M, Diderich, K E M, de Die-Smulders, C E M, Duin, L K, Faas, B H W, Feenstra, I, Haak, M C, Hoffer, M J V, den Hollander, N S, Hollink, I H I M, Jehee, F S, Knapen, M F C M, Kooper, A J A, van Langen, I M, Lichtenbelt, K D, Linskens, I H, van Maarle, M C, Oepkes, D, Pieters, M J, Schuring-Blom, G H, Sikkel, E, Sikkema-Raddatz, B, Smeets, D F C M, Srebniak, M I, Suijkerbuijk, R F, Tan-Sindhunata, G M, van der Ven, A J E M, van Zelderen-Bhola, S L, Henneman, L, Galjaard, R J H, Van Opstal, D, Weiss, M M & The Dutch NIPT Consortium 2019, 'TRIDENT-2 : National Implementation of Genome-wide Non-invasive Prenatal Testing as a First-Tier Screening Test in the Netherlands', American journal of human genetics, vol. 105, no. 6, pp. 1091-1101. https://doi.org/10.1016/j.ajhg.2019.10.005
American Journal of Human Genetics, 105, 6, pp. 1091-1101

Stevens SJC; Department of Clinical Genetics, Maastricht University Medical Centre and GROW School for Oncology and Developmental Biology, Maastricht University, Maastricht, the Netherlands.; Stumpel CTRM; Department of Clinical Genetics, Maastricht University Medical Centre and GROW School for Oncology and Developmental Biology, Maastricht University, Maastricht, the Netherlands.; Diderich KEM; Department of Clinical Genetics, Erasmus Medical Centre, Rotterdam, the Netherlands.; van Slegtenhorst MA; Department of Clinical Genetics, Erasmus Medical Centre, Rotterdam, the Netherlands.; Abbott MA; Department of Pediatrics, University of Massachusetts Medical School-Baystate, Springfield, Massachusetts, USA.; Manning C; Department of Pediatrics, University of Massachusetts Medical School-Baystate, Springfield, Massachusetts, USA.; Balciuniene J; Division of Human Genetics and the Roberts Individualized Medical Genetics Center, Children's Hospital of Philadelphia, Philadelphia, PA, USA.; Pyle LC; Division of Human Genetics and the Roberts Individualized Medical Genetics Center, Children's Hospital of Philadelphia, Philadelphia, PA, USA.; Leonard J; Division of Human Genetics and the Roberts Individualized Medical Genetics Center, Children's Hospital of Philadelphia, Philadelphia, PA, USA.; Murrell JR; Division of Human Genetics and the Roberts Individualized Medical Genetics Center, Children's Hospital of Philadelphia, Philadelphia, PA, USA.; van de Putte R; Department for Health Evidence, Radboud Institute for Health Sciences, Radboud University Medical Center, Nijmegen, the Netherlands.; van Rooij IALM; Department for Health Evidence, Radboud Institute for Health Sciences, Radboud University Medical Center, Nijmegen, the Netherlands.; Hoischen A; Department of Genetics, Radboud University Medical Centre, Nijmegen, the Netherlands.; Lasko P; Department of Genetics, Radboud University Medical Centre, Nijmegen, the Netherlands.; Department of Biology, McGill University, Montréal, Québec, Canada.; Brunner HG; Department of Clinical Genetics, Maastricht University Medical Centre and GROW School for Oncology and Developmental Biology, Maastricht University, Maastricht, the Netherlands.; Department of Genetics, Radboud University Medical Centre, Nijmegen, the Netherlands.

Publisher: Munksgaard Country of Publication: Denmark NLM ID: 0253664 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1399-0004 (Electronic) Linking ISSN: 00099163 NLM ISO Abbreviation: Clin Genet Subsets: MEDLINE

Klapwijk JE; Department of Clinical Genetics, Erasmus MC, Rotterdam, The Netherlands.; Srebniak MI; Department of Clinical Genetics, Erasmus MC, Rotterdam, The Netherlands.; Go ATJI; Department of Obstetrics and Fetal Medicine, Erasmus MC, Rotterdam, The Netherlands.; Govaerts LCP; Department of Clinical Genetics, Erasmus MC, Rotterdam, The Netherlands.; Lewis C; North Thames Genomic Laboratory Hub, Great Ormond Street Hospital, London, UK.; Population, Policy and Practice Department, UCL Great Ormond Street Institute of Child Health, London, UK.; Hammond J; North Thames Genomic Laboratory Hub, Great Ormond Street Hospital, London, UK.; Genetic and Genomic Medicine, UCL Great Ormond Street Institute of Child Health, London, UK.; Hill M; North Thames Genomic Laboratory Hub, Great Ormond Street Hospital, London, UK.; Genetic and Genomic Medicine, UCL Great Ormond Street Institute of Child Health, London, UK.; Lou S; Center for Fetal Diagnostics, Aarhus University Hospital, Aarhus, Denmark.; Vogel I; Center for Fetal Diagnostics, Aarhus University Hospital, Aarhus, Denmark.; Department of Clinical Medicine, Aarhus University, Aarhus, Denmark.; Department of Clinical Genetics, Aarhus University Hospital, Aarhus, Denmark.; Ormond KE; Department of Genetics and Stanford Center for Biomedical Ethics, Stanford University School of Medicine, Stanford, California, USA.; Diderich KEM; Department of Clinical Genetics, Erasmus MC, Rotterdam, The Netherlands.; Brüggenwirth HT; Department of Clinical Genetics, Erasmus MC, Rotterdam, The Netherlands.; Riedijk SR; Department of Clinical Genetics, Erasmus MC, Rotterdam, The Netherlands.

Publisher: Munksgaard Country of Publication: Denmark NLM ID: 0253664 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1399-0004 (Electronic) Linking ISSN: 00099163 NLM ISO Abbreviation: Clin Genet Subsets: MEDLINE

Diderich KEM; Department of Clinical Genetics, Erasmus Medical Center, Rotterdam, the Netherlands.; Romijn K; Department of Clinical Genetics, Erasmus Medical Center, Rotterdam, the Netherlands.; Joosten M; Department of Clinical Genetics, Erasmus Medical Center, Rotterdam, the Netherlands.; Govaerts LCP; Department of Clinical Genetics, Erasmus Medical Center, Rotterdam, the Netherlands.; Polak M; Department of Psychology, Education & Child Studies (DPECS), Erasmus University Rotterdam, Rotterdam, the Netherlands.; Bruggenwirth HT; Department of Clinical Genetics, Erasmus Medical Center, Rotterdam, the Netherlands.; Wilke M; Department of Clinical Genetics, Erasmus Medical Center, Rotterdam, the Netherlands.; van Slegtenhorst MA; Department of Clinical Genetics, Erasmus Medical Center, Rotterdam, the Netherlands.; van Bever Y; Department of Clinical Genetics, Erasmus Medical Center, Rotterdam, the Netherlands.; Brooks AS; Department of Clinical Genetics, Erasmus Medical Center, Rotterdam, the Netherlands.; Mancini GMS; Department of Clinical Genetics, Erasmus Medical Center, Rotterdam, the Netherlands.; van de Laar IMBH; Department of Clinical Genetics, Erasmus Medical Center, Rotterdam, the Netherlands.; Kromosoeto JNR; Department of Clinical Genetics, Erasmus Medical Center, Rotterdam, the Netherlands.; Knapen MFCM; Department of Obstetrics and Prenatal Medicine, Erasmus Medical Center, Rotterdam, the Netherlands.; Foundation Prenatal Screening Southwest Region of the Netherlands, Rotterdam, The Netherlands.; Go ATJI; Department of Obstetrics and Prenatal Medicine, Erasmus Medical Center, Rotterdam, the Netherlands.; Van Opstal D; Department of Clinical Genetics, Erasmus Medical Center, Rotterdam, the Netherlands.; Hoefsloot LH; Department of Clinical Genetics, Erasmus Medical Center, Rotterdam, the Netherlands.; Galjaard RH; Department of Clinical Genetics, Erasmus Medical Center, Rotterdam, the Netherlands.; Srebniak MI; Department of Clinical Genetics, Erasmus Medical Center, Rotterdam, the Netherlands.

Publisher: Wiley Country of Publication: United States NLM ID: 0370343 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1600-0412 (Electronic) Linking ISSN: 00016349 NLM ISO Abbreviation: Acta Obstet Gynecol Scand Subsets: MEDLINE