부산대학교 도서관

Hou H; Program in Genetics and Genome Biology, SickKids Research Institute, Toronto, ON, Canada.; Yuki KE; Program in Genetics and Genome Biology, SickKids Research Institute, Toronto, ON, Canada.; Division of Genome Diagnostics, The Hospital for Sick Children, Toronto, ON, Canada.; Costain G; Program in Genetics and Genome Biology, SickKids Research Institute, Toronto, ON, Canada.; Division of Clinical and Metabolic Genetics, The Hospital for Sick Children, Toronto, ON, Canada.; Department of Paediatrics, Temerty Faculty of Medicine, University of Toronto, Toronto, ON, Canada.; Department of Molecular Genetics, University of Toronto, Toronto, ON, Canada.; Szuto A; Program in Genetics and Genome Biology, SickKids Research Institute, Toronto, ON, Canada.; Division of Clinical and Metabolic Genetics, The Hospital for Sick Children, Toronto, ON, Canada.; Department of Molecular Genetics, University of Toronto, Toronto, ON, Canada.; Barnes S; Division of Genome Diagnostics, The Hospital for Sick Children, Toronto, ON, Canada.; Ramani AK; Centre for Computational Medicine, The Hospital for Sick Children, Toronto, ON, Canada.; Celik A; Centre for Computational Medicine, The Hospital for Sick Children, Toronto, ON, Canada.; Braga M; Division of Genome Diagnostics, The Hospital for Sick Children, Toronto, ON, Canada.; Gloven-Brown M; Division of Genome Diagnostics, The Hospital for Sick Children, Toronto, ON, Canada.; Stavropoulos DJ; Division of Genome Diagnostics, The Hospital for Sick Children, Toronto, ON, Canada.; Department of Laboratory Medicine and Pathobiology, University of Toronto, Toronto, ON, Canada.; Bowdin S; Division of Genome Diagnostics, The Hospital for Sick Children, Toronto, ON, Canada.; Department of Clinical Genetics, Cambridge University Hospitals NHS Foundation Trust, Cambridge, UK.; Cohn RD; Program in Genetics and Genome Biology, SickKids Research Institute, Toronto, ON, Canada.; Department of Paediatrics, Temerty Faculty of Medicine, University of Toronto, Toronto, ON, Canada.; Department of Molecular Genetics, University of Toronto, Toronto, ON, Canada.; Institute of Medical Science, University of Toronto, Toronto, ON, Canada.; Mendoza-Londono R; Division of Clinical and Metabolic Genetics, The Hospital for Sick Children, Toronto, ON, Canada.; Department of Paediatrics, Temerty Faculty of Medicine, University of Toronto, Toronto, ON, Canada.; Scherer SW; Program in Genetics and Genome Biology, SickKids Research Institute, Toronto, ON, Canada.; Department of Molecular Genetics, University of Toronto, Toronto, ON, Canada.; The Centre for Applied Genomics, The Hospital for Sick Children, Toronto, ON, Canada.; Brudno M; Program in Genetics and Genome Biology, SickKids Research Institute, Toronto, ON, Canada.; University Health Network, Toronto, ON, Canada.; Department of Computer Science, University of Toronto, Toronto, ON, Canada.; Vector Institute for Artificial Intelligence, Toronto, ON, Canada.; Marshall CR; Division of Genome Diagnostics, The Hospital for Sick Children, Toronto, ON, Canada.; Department of Laboratory Medicine and Pathobiology, University of Toronto, Toronto, ON, Canada.; Stephen Meyn M; Center for Human Genomics and Precision Medicine, University of Wisconsin, Madison, WI, USA.; Department of Pediatrics, University of Wisconsin, Madison, WI, USA.; Shlien A; Program in Genetics and Genome Biology, SickKids Research Institute, Toronto, ON, Canada.; Division of Genome Diagnostics, The Hospital for Sick Children, Toronto, ON, Canada.; Department of Laboratory Medicine and Pathobiology, University of Toronto, Toronto, ON, Canada.; Dowling JJ; Program in Genetics and Genome Biology, SickKids Research Institute, Toronto, ON, Canada.; Department of Molecular Genetics, University of Toronto, Toronto, ON, Canada.; Division of Neurology, The Hospital for Sick Children, Toronto, ON, Canada.; Wilson MD; Program in Genetics and Genome Biology, SickKids Research Institute, Toronto, ON, Canada. michael.wilson@sickkids.ca.; Department of Molecular Genetics, University of Toronto, Toronto, ON, Canada. michael.wilson@sickkids.ca.; Kyriakopoulou L; Division of Genome Diagnostics, The Hospital for Sick Children, Toronto, ON, Canada. lianna.kyriakopoulou@sickkids.ca.; Department of Laboratory Medicine and Pathobiology, University of Toronto, Toronto, ON, Canada. lianna.kyriakopoulou@sickkids.ca.

Publisher: Springer Nature in partnership with the Center of Excellence in Genomic Medicine Research at King Abdulaziz University Country of Publication: England NLM ID: 101685193 Publication Model: Electronic Cited Medium: Internet ISSN: 2056-7944 (Electronic) Linking ISSN: 20567944 NLM ISO Abbreviation: NPJ Genom Med Subsets: PubMed not MEDLINE

More RP; Department of Paediatrics, University of Cambridge, Hills Road, Cambridge, CB2 0QQ, UK.; Sumathipala D; Department of Paediatrics, University of Cambridge, Hills Road, Cambridge, CB2 0QQ, UK.; Dolling H; Department of Paediatrics, University of Cambridge, Hills Road, Cambridge, CB2 0QQ, UK; Centre for Child, Adolescent and Family Research, Department of Psychology, University of Cambridge, CB2 3RF, UK.; Downes K; NHS East Genomic Laboratory Hub, Cambridge Biomedical Campus, Cambridge, CB2 0QQ, UK.; Bowdin S; NHS East Genomic Laboratory Hub, Cambridge Biomedical Campus, Cambridge, CB2 0QQ, UK; Cambridge University Hospitals NHS Foundation Trust, Cambridge Biomedical Campus, Cambridge, CB2 0QQ, UK.; Ahn J; Department of Paediatrics, University of Cambridge, Hills Road, Cambridge, CB2 0QQ, UK; NHS East Genomic Laboratory Hub, Cambridge Biomedical Campus, Cambridge, CB2 0QQ, UK; Cambridge University Hospitals NHS Foundation Trust, Cambridge Biomedical Campus, Cambridge, CB2 0QQ, UK.; Morris S; NIHR Cambridge Biomedical Research Centre, Cambridge, CB2 0QQ, UK; Primary Care Unit, Department of Public Health & Primary Care, University of Cambridge, Cambridge, CB2 0SR, UK.; Rowitch DH; Department of Paediatrics, University of Cambridge, Hills Road, Cambridge, CB2 0QQ, UK; NIHR Cambridge Biomedical Research Centre, Cambridge, CB2 0QQ, UK; Cambridge University Hospitals NHS Foundation Trust, Cambridge Biomedical Campus, Cambridge, CB2 0QQ, UK; Department of Pediatrics, Cedars-Sinai Guerin Children's, Los Angeles, CA, 90048, USA. Electronic address: dhr25@cam.ac.uk.

Publisher: Elsevier Country of Publication: Netherlands NLM ID: 101247089 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1878-0849 (Electronic) Linking ISSN: 17697212 NLM ISO Abbreviation: Eur J Med Genet Subsets: MEDLINE

Anderson, J A; Meyn, M S; Shuman, C; Shaul, R Zlotnik; Mantella, L E; Szego, M J; Bowdin, S; Monfared, N; Hayeems, R Z

Journal of Medical Ethics, 2017 Aug 01. 43(8), 535-539.

Hosseini, SM; Kim, R; Udupa, S; Costain, G; Jobling, R; Liston, E; Jamal, SM; Szybowska, M; Morel, CF; Bowdin, S; Garcia, J; Care, M; Sturm, AC; Novelli, V; Ackerman, MJ; Ware, JS; Hershberger, RE; Wilde, AAM; Gollob, MH; NIH-Clinical Genome Resource Consortium

Circulation

Bishop M; Wellcome Connecting Science, Wellcome Genome Campus, Hinxton, UK. mb44@sanger.ac.uk.; Vedi A; Department of Paediatric Haematology and Oncology, Cambridge University Hospitals NHS Foundation Trust, Cambridge, UK.; Department of Paediatrics, University of Cambridge, Cambridge, UK.; Bowdin S; NHS East Genomic Laboratory Hub, Cambridge University Hospitals NHS Foundation Trust, Cambridge, UK.; Armstrong R; Department of Medical Genetics, Cambridge University Hospitals NHS Foundation Trust, Cambridge, UK.; Bartram J; Department of Paediatric Haematology and Oncology, Great Ormond Street Hospital for Children NHS Trust, London, UK.; Bentley D; Illumina, Cambridge Ltd, Cambridge, UK.; Ross M; Illumina, Cambridge Ltd, Cambridge, UK.; Hook CE; Department of Pathology, University of Cambridge, Cambridge, UK.; Department of Paediatric Histopathology, Cambridge University Hospitals NHS Foundation Trust, Cambridge, UK.; Yin Chung BH; Department of Paediatrics and Adolescent Medicine, School of Clinical Medicine, Li Ka Shing, Faculty of Medicine, The University of Hong Kong, Hong Kong, Hong Kong SAR, China.; Hong Kong Genome Institute, Hong Kong, Hong Kong SAR, China.; Moss P; Genomics England, London, UK.; Rowitch DH; Department of Paediatrics, University of Cambridge, Cambridge, UK.; Tarpey P; NHS East Genomic Laboratory Hub, Cambridge University Hospitals NHS Foundation Trust, Cambridge, UK.; Behjati S; Department of Paediatric Haematology and Oncology, Cambridge University Hospitals NHS Foundation Trust, Cambridge, UK.; Department of Paediatrics, University of Cambridge, Cambridge, UK.; Wellcome Sanger Institute, Hinxton, Cambridge, UK.; Murray MJ; Department of Paediatric Haematology and Oncology, Cambridge University Hospitals NHS Foundation Trust, Cambridge, UK.; Department of Pathology, University of Cambridge, Cambridge, UK.

Publisher: BioMed Central Country of Publication: England NLM ID: 101088679 Publication Model: Electronic Cited Medium: Internet ISSN: 1472-6920 (Electronic) Linking ISSN: 14726920 NLM ISO Abbreviation: BMC Med Educ Subsets: MEDLINE

French, CE; Delon, I; Dolling, H; Sanchis-Juan, A; Shamardina, O; Mégy, K; Abbs, S; Austin, T; Bowdin, S; Branco, RG; Firth, H; Tuna, S; Aitman, TJ; Ashford, S; Astle, WJ; Bennet, DL; Bleda, M; Carss, KJ; Chinnery, PF; Deevi, SVV; Fletcher, D; Gale, DP; Gräf, SF; Hu, F; James, R; Kasanicki, MA; Kingston, N; Koziell, AB; Allen, HL; Maher, ER; Markus, HS; Meacham, S; Morrell, NW; Penkett, CJ; Roberts, I; Smith, KGC; Stark, H; Stirrups, KE; Turro, E; Watkins, H; Williamson, C; Young, T; Bradley, JR; Ouwehand, WH; Raymond, FL; Agrawal, S; Armstrong, R; Beardsall, K; Belteki, G; Bohatschek, M; Broster, S; Campbell, R; Chaudhary, R; Costa, C; D’Amore, A; Fitzsimmons, A; Hague, J; Harley, J; Hoodbhoy, S; Kayani, R; Kelsall, W; Mehta, SG; O’Donnell, R; O’Hare, S; Ogilvy-Stuart, A; Papakostas, S; Park, SM; Parker, A; Pathan, N; Prapa, M; Sammut, A; Sandford, R; Schon, K; Singh, Y; Spike, K; Tavares, ALT; Wari-Pepple, D; Wong, HS; Woods, CG; Rowitch, DH

Intensive Care Med
French, C E, Delon, I, Dolling, H, Sanchis-Juan, A, Shamardina, O, Mégy, K, Abbs, S, Austin, T, Bowdin, S, Branco, R G, Firth, H, Williamson, C & Rowitch, D H & Raymond, F L & Dixon, P 2019, ' Whole genome sequencing reveals that genetic conditions are frequent in intensively ill children ', Intensive Care Medicine, vol. 45, no. 5, pp. 627-636 . https://doi.org/10.1007/s00134-019-05552-x
2019, ' Whole genome sequencing reveals that genetic conditions are frequent in intensively ill children ', Intensive Care Medicine, vol. 45, no. 5, pp. 627-636 . https://doi.org/10.1007/s00134-019-05552-x

Szego, M.J. ; Meyn, M.S. ; Shuman, C. ; Zlotnik Shaul, R. ; Anderson, J.A. ; Bowdin, S. ; Monfared, N. ; Hayeems, R.Z.

In European Journal of Medical Genetics May 2019 62(5):350-356

Reuter, Miriam S. ; Chaturvedi, Rajiv R. ; Liston, Eriskay ; Manshaei, Roozbeh ; Aul, Ritu B. ; Bowdin, Sarah ; Cohn, Iris ; Curtis, Meredith ; Dhir, Priya ; Hayeems, Robin Z. ; Hosseini, S. Mohsen ; Khan, Reem ; Ly, Linh G. ; Marshall, Christian R. ; Mertens, Luc ; Okello, John B.A. ; Pereira, Sergio L. ; Raajkumar, Akshaya ; Seed, Mike ; Thiruvahindrapuram, Bhooma ; Scherer, Stephen W. ; Kim, Raymond H. ; Jobling, Rebekah K.

In Genetics in Medicine June 2020 22(6):1015-1024

Lionel, Anath C. ; Costain, Gregory ; Monfared, Nasim ; Walker, Susan ; Reuter, Miriam S. ; Hosseini, S. Mohsen ; Thiruvahindrapuram, Bhooma ; Merico, Daniele ; Jobling, Rebekah ; Nalpathamkalam, Thomas ; Pellecchia, Giovanna ; Sung, Wilson W.L. ; Wang, Zhuozhi ; Bikangaga, Peter ; Boelman, Cyrus ; Carter, Melissa T. ; Cordeiro, Dawn ; Cytrynbaum, Cheryl ; Dell, Sharon D. ; Dhir, Priya ; Dowling, James J. ; Heon, Elise ; Hewson, Stacy ; Hiraki, Linda ; Inbar-Feigenberg, Michal ; Klatt, Regan ; Kronick, Jonathan ; Laxer, Ronald M. ; Licht, Christoph ; MacDonald, Heather ; Mercimek-Andrews, Saadet ; Mendoza-Londono, Roberto ; Piscione, Tino ; Schneider, Rayfel ; Schulze, Andreas ; Silverman, Earl ; Siriwardena, Komudi ; Snead, O. Carter ; Sondheimer, Neal ; Sutherland, Joanne ; Vincent, Ajoy ; Wasserman, Jonathan D. ; Weksberg, Rosanna ; Shuman, Cheryl ; Carew, Chris ; Szego, Michael J. ; Hayeems, Robin Z. ; Basran, Raveen ; Stavropoulos, Dimitri J. ; Ray, Peter N. ; Bowdin, Sarah ; Meyn, M. Stephen ; Cohn, Ronald D. ; Scherer, Stephen W. ; Marshall, Christian R.

In Genetics in Medicine April 2018 20(4):435-443

Sousa S. B.; Hennekam R. C.; Abdul-Rahman O.; Alders M.; Azzarello-Burri S.; Bottani A.; Bowdin S.; Castori M.; Cormier-Daire V.; Deardorff M.; Del Campo Casanelles M.; Devriendt K.; Fauth C.; Filges I.; Fryer A.; Garavelli L.; Gillessen-Kaesback G.; Hall B.; Hirofumi O.; Holder S.; Hoyer J.; Jenkins L.; Klapeki J.; Krajewska-Walasek M.; Kosho T.; Kuechler A.; MacDermot K.; Magee A.; Mari F.; Mathieu-Dramard M.; Napier M.; Perez-Jurado L. A.; Picard F. M.; Morin G.; Murday V.; Pilch J.; Ronan A.; Rosser E.; Santen G. W. E.; Scott R.; Selicorni A.; Shannon N.; Santos-Simarro F.; Stewart H.; van den Boogaard M. -J.; Vilain C.; Vermeesch J.; Vogels A.; Wakeling E.; Wieczorek D.; Yesil G.; Zuffardi O.; Zweier C.

American Journal of Medical Genetics Part C: Seminars in Medical Genetics. 166:302-314

Reuter, Miriam S., MD; Walker, Susan, PhD; Thiruvahindrapuram, Bhooma, MSc; Whitney, Joe, MSc; Trost, Brett, PhD; Paton, Tara A., PhD; Pereira, Sergio L., PhD; Herbrick, Jo-Anne, BSc; Wintle, Richard F., PhD; Howe, Jennifer; MacDonald, Jeffrey R., BSc; Lu, Chao, PhD; Nalpathamkalam, Thomas, BSc; Sung, Wilson W.L., MSc; Wang, Zhuozhi, PhD; Patel, Rohan V., MSc; Pellecchia, Giovanna, PhD; Wei, John, PhD; Strug, Lisa J., PhD; Bell, Sherilyn, BSc; Kellam, Barbara, BSc; Mahtani, Melanie M., PhD; Buchanan, Janet A., PhD; Yuen, Ryan K.C., PhD; Merico, Daniele, PhD; Hosseini, S. Mohsen, MD PhD; Fiume, Marc, PhD; Marshall, Christian R., PhD; Scherer, Stephen W., PhD; Cohn, Iris, MSc RPh; Sondheimer, Neal, MD PhD; Weksberg, Rosanna, MD PhD; Shuman, Cheryl, MS; Meyn, M. Stephen, MD PhD; Bowdin, Sarah, MD MSc; Monfared, Nasim, MSc; Cohn, Ronald D., MD; Ellis, James, PhD; Bassett, Anne S., MD; Bombard, Yvonne, PhD; Stavropoulos, Dimitri J., PhD; Ray, Peter, PhD; Hildebrandt, Matthew R., PhD; Wei, Wei, MSc; Romm, Asli, MSc; Pasceri, Peter, BSc; Joseph-George, Ann M., PhD; Keeley, Fred W., PhD; Cook, Ryan A., MBA BSc; Lee, Hin C., PhD; Davies, Jill, MSc; Hazell, Allison, MSc; Szego, Michael J., PhD

Canadian Medical Association Journal. 190(5):E126-E136

Perry, LD; Hogg, SL; Bowdin, S; Ambegaonkar, G; Parker, AP

Vaags, A.; Bowdin, S.; Smith, M.; Gilbert-Dussardier, B.; Brocke-Holmefjord, K.; Sinopoli, K.; Gilles, C.; Haaland, T.; Vincent-Delorme, C.; Lagrue, E.; Harbuz, R.; Walker, S.; Marshall, C.; Houge, G.; Kalscheuer, V.; Scherer, S.; Minassian, B.

Annals of Neurology

Abbasi, Soraya, MD; Afshar, Yalda, MD, PhD; Ahn, Sun-Young, MD; Albertine, Kurt H., PhD; Allegaert, Karel, MD, PhD; Alper, Seth L., MD, PhD; Altit, Gabriel, MDCM, MSc; Alvaro, Ruben E., MD; Alvira, Cristina M., MD; Maia Amorim, Natália Carlos, MS; Anbuhl, Kelsey L., PhD; Andersen, Claus Yding, MSc, DMSc; Anderson, Richard A., MD, PhD; Andrews, Katrina A., MB BChir; Askenazi, David J., MD, MSPH; Fernandes Assunção, Débora Gabriela, MD; Auten, Richard Lambert, Jr., MD; Autmizguine, Julie, MD, MHS; Azhibekov, Timur, MD, MS CBTI; Back, Stephen A., MD, PhD; Bahr, Timothy M., MD; Baker, Peter Russell, II, MD; Bancalari, Eduardo H., MD; Barichello, Tatiana, PhD; Battaglia, Frederick C., MD; Bauer, Andrew J., MD; Baum, Michel, MD; Bavis, Ryan W., PhD; Beardsall, Kathryn, BSc, MBBS, MD; Beggs, Simon, PhD; Benchimol, Corinne, DO; Benders, Manon J.N.L., MD, PhD; Bennet, Laura, PhD; Bennett, Phillip R., MD, PhD; Berger, Melvin, MD, PhD; Bernhard, Wolfgang, MD; Bertram, John F., BSc, PhD, DSc; Bhombal, Shazia, MD; Bhutani, Vinod K., MD; Black, Mary Jane, BSc (Hons), PhD; Bliss, Joseph M., MD, PhD; Bolender, David L., PhD; Bowdin, Sarah C., MD; Boyd, Scott D., MD, PhD; Brandenburg, Joline E., MD; Brown, Laura D., MD; Burrin, Douglas G., PhD; Cannon, Barbara, BSc, PhD; Caplan, Michael, MD; Carlson, Susan E., PhD; Carlton, David P., MD; Chaemsaithong, Piya, MD, PhD; Chang, Jill, MD; Charlton, Jennifer R., MD; Chemtob, Sylvain, MD, PhD; Chheda, Sadhana, MBBS, DTMH; Childs, Andrew J., BSc (Hons), MSc, PhD; Chu, David H., MD, PhD; Chung, Wendy K., MD, PhD; Cilio, Maria Roberta, MD, PhD; Clark, David A., MD; Clarke, Paul, MD, DCH DCCH; Cleal, Jane K., PhD; Clemente, Ethel G., MD; Clements, John A., MD; Clyman, Ronald I., MD; Cohen, Jennifer L., MD; Cohen, Susan S., MD; Collins, Amélie, MD, PhD; Collodel, Allan, PhD; Colombo, John, PhD; Combes, Alexander N., PhD; Copp, Andrew J., MBBS, DPhil; Cotten, C. Michael, MD; Crawford, Peter A., MD, PhD; Crowe, James E., Jr., MD; Crowther, C.A., MBChB, DCH, MD, CMFM; Cullen-McEwen, Luise A., BSc, PhD; Cutfield, Wayne S., MD; Cyr-Depauw, Chanèle, MSc; Danielly da S. Ribeiro, Karla, PhD; Dauby, Nicolas, MD, PhD; Davenport, Patricia, MD; Davidson, Joanne O., PhD; Cruz, Diomel de la, MD; Gomes de Oliveira, Priscila, MD; de Vrijer, Barbra, MD; Del Colle, Andrew, MS; Delacourt, Christophe, MD, PhD; Diacovo, Thomas G., MD; Disdier, Clémence, PhD, PharmD; Dormans, John P., MD; Duhamel, François, BPharm, MSc; Duong, Minh Dien, MD; Dysart, Kevin, MD; Eichenwald, Eric C., MD; El-Khuffash, Afif F., MB, BCh, BAO, BA(Sci), MD, DCE; Ivor Ellis, Peter James, PhD; Empey, Kerry M., PharmD, PhD; Ercal, Baris, MD, PhD; Erdős, Melinda, MD, PhD; Errede, Mariella, MD, PhD; Feldman, Brian J., MD, PhD; Fidanza, Mario, PhD; Fogarty, Matthew J., BVSc, PhD; Friedlich, Philippe S., MD, MS Epi, MBA; Fujiwara, Ryoichi, PhD; Gallo, Vittorio, PhD; Ganguly, Abhrajit, MD; Gao, Yuansheng, PhD; Garland, Marianne, MB ChB; Geddes, Donna; Dip (Sci), Post Grad, PhD; Georgieff, Michael K., MD; Gien, Jason, MD; Giussani, Dino A., PhD, ScD; Goldman, Armond S., MD; Gomez-Lopez, Nardhy, PhD; Good, Misty, MD; Good, Pamela I., MD; Gordon, Scott M., MD, PhD; Green, Lucy R., BSc, PhD; Greene, Nicholas D.E., PhD; Gridneva, Zoya, BSc, PhD; Grigoriou, Emmanouil, MD; Grimberg, Adda, MD; Grunau, Ruth E., PhD; Guignard, Jean-Pierre, MD; Gunn, Alistair J., MBChB, PhD; Gurtunca, Nursen, MD; Gustafson, Kathleen M., PhD; Hadchouel, Alice, MD, PhD; Haddad, Gabriel G., MD; Hale, Thomas W., RPh, PhD; Hambidge, K. Michael, MD, ScD; Hammerman, Cathy, MD; Ruud Hansen, Thor Willy, MD, PhD, MHA; Hanson, Mark A., MA, DPhil; Harbeson, Danny, PhD; Harding, J.E., MBChB, DPhil; Harding, Richard, PhD, DSc; Harris, Mary Catherine, MD; Hartmann, Peter, BSc, PhD; Hartnett, M. Elizabeth, MD; Hasbun, Rodrigo, MD, MPH; Haugen, Guttorm, MD; Hawkes, Colin P., MD, PhD; Hay, William W., Jr., MD; Heine, Vivi M., PhD; Helmrath, Michael A., MD; Hendricks-Muñoz, Karen D., MD, MPH; Herrera, Emilio, PhD; Hiatt, Michael J., PhD; Hooper, Stuart B., BSc (Hons), PhD; Hooven, Thomas A., MD; Iacobelli, Silvia, MD, PhD; Inder, Terrie E., MBChB, MD; Iruela-Arispe, M. Luisa, PhD; Jadcherla, Sudarshan Rao, MD, DCH, AGAF; Jain, Deepak, MD; Jetton, Jennifer G., MD; Jobe, Alan H., MD, PhD; Jones, Helen, PhD; Jose, Pedro A., MD, PhD; Jung, Eunjung, MD; Kallapur, Suhas G., MD; Kaplan, Michael, MB ChB; Karumanchi, S. Ananth, MD; Kaskel, Frederick J., MD, PhD; Levitt Katz, Lorraine E., MD; Kavus, Haluk, MD; Keeney, Susan E., MD; Kern, Steven E., PhD; Khanjani, Shirin, MD, PhD; Khlevner, Julie, MD; Kilpatrick, Laurie E., PhD; Kim, Chang-Ryul, MD, PhD; Kingma, Paul S., MD, PhD; Kinsella, John P., MD; Kiserud, Torvid, MD, PhD; Koenig, Joyce M., MD; Kohli, Rohit, MBBS, MS; Kollmann, Tobias R., MD, PhD; Kolls, Jay K., MD; Konecny, Christina M., MD; Kratimenos, Panagiotis, MD, PhD; Krebs, Nancy F., MD; Krutsch, Kaytlin, PharmD, MBA; Kuhn-Riordon, Kara, MD; Kulik, Thomas J., MD; Kumar, T. Rajendra, PhD; Kutikov, Jessica Katz, MD; Lakshminrusimha, Satyan, MBBS, MD; Lasunción, Miguel Angel, PhD; Lavoie, Pascal M., MDCM, PhD; Lawrence, Shelley M., MD; Lee, Mark K., MD; Lee, Mary M., MD; Lee, Yvonne K., MD; Leibel, Sandra L., MD; Levy, Ofer, MD, PhD; Levy, Philip T., MD; Lewis, Rohan M., PhD; Li, Changgong, PhD; Lin, Fangming, MD, PhD; Lobritto, Steven, MD; Loomis, Cynthia A., MD; MacFarlane, Peter M., PhD; MacIntyre, David A., PhD; Mahe, Maxime M., PhD; Mamsen, Linn Salto, MSc, PhD; Mankouski, Anastasiya, MD; Mantilla, Carlos B., MD, PhD; Marchant, Arnaud, MD, PhD; Margolis, Kara Gross, MD; Maródi, László, MD, PhD; Maršál, Karel, MD, PhD; Martin, Richard J., MBBS; Martin Carli, Jayne F., PhD; Martinez, Hugo R., MD; Matsell, Douglas G., MDCM; Matthews, Dwight E., PhD; McArdle, Harry J., BSc (Hons), PhD; McKinlay, C.J.D., MBChB, PhD; McManaman, James L., PhD; McNamara, Patrick J., MD, MRCPCH, MSc; Meschia, Giacomo, MD; Mestan, Karen, MD; Miller, Steven P., MDCM, MAS; Minoo, Parviz, PhD; Mir, Imran N., MD; Mitchell, Lisa J., DO; Mižíková, Ivana, PhD; Mizuno, Tomoyuki, PhD; Momper, Jeremiah D., PharmD, PhD; Monagle, Paul, MBBS, MD, MSC; Monks, Jenifer, PhD; Mortola, Jacopo P., MD; Muglia, Louis J., MD, PhD; Munshi, Upender K., MBBS, MD; Narasimhan, Sumana, MD; Narendran, Vivek, MD, MRCP (UK), MBA; Nedergaard, Jan, PhD; Nelin, Leif D., MD; Neu, Josef, MD; Nielsen, Sandra C.A., PhD; Nigam, Sanjay K., MD; Nizet, Victor, MD; Nogee, Lawrence M., MD; Noori, Shahab, MD, MS CBTI; Norris, Andrew W., MD, PhD; O’Brien, Barbara M., MD; O’Brien, Lori L., PhD; O’Callaghan, Karen M., PhD; Ogilvy-Stuart, Amanda, BM, DM; Ohls, Robin K., MD; Ortega-Senovilla, Henar, PhD; O’Sullivan, Justin M., PhD; Panitch, Howard B., MD; Penn, Anna A., MD, PhD; Penn, Raymond B., PhD; Petroff, Margaret G., PhD; Philipps, Anthony F., AB, MD; Pisani, Francesco, MD, PhD; Pleasure, David, MD; Pomeroy, Scott L., MD, PhD; Post, Martin, PhD; Prakash, Y.S., MD, PhD; Prozialeck, Joshua D., MD, MSA; Pysher, Theodore J., MD; Quigley, Raymond, MD; Rabinovitch, Marlene, MD; Raffay, Thomas M., MD; Raj, J. Usha, MD, MHA; Ramsey, Laura B., PhD; Rana, Sarosh, MD, MPH; Randis, Tara M., MD; Ranger, Manon, PhD; Regnault, Timothy R.H., PhD; Rios, Danielle R., MD; Romero, Roberto, MD, DMedSci; Rosenfeld, Charles R., MD; Ross, A. Catharine, PhD; Roth, Daniel E., MD, PhD; Rozycki, Henry J., MD; Ryan, Thomas D., MD, PhD; Sahni, Rakesh, MBBS; Sarnat, Harvey B., MD; Satlin, Lisa M., MD; Scafidi, Joseph, DO, MS; Schellpfeffer, Michael A., MD; Schierding, William, PhD; Schwartz, George J., MD; Segar, Jeffrey L., MD; Selewski, David T., MD; Seri, Istvan, MD, PhD, HonD; Shaffer, Thomas H., MSE, PhD; Shearer, Martin J., BSc, PhD, FRCPath; Shroyer, Noah F., PhD; Sieck, Gary C., PhD; Simmons, Rebecca A., MD; Singh, Neel Kamal, MBBS, MD; Sivieri, Emidio, MS, BE; Smith, Laura, MD; Smyth, Ian M., PhD; Sola-Visner, Martha C., MD; Solhaug, Michael J., MD; Sperandio, Markus, MD; Sperling, Mark A., MBBS; Srinivasan, Lakshmi, MBBS; Stanescu, Diana E., MD; Stanley, Charles A., MD; Steinhorn, Robin H., MD; Stinson, Lisa, BSc, MMedSci, PhD; Stonestreet, Barbara S., MD; Strasburger, Janette F., MD; Styne, Dennis M., MD; Sun, Xin, PhD; Sussel, Lori, PhD; Tam, Emily W.Y., MDCM, MAS; Tan, Libo, PhD; te Pas, Arjan B., MD, PhD; Ten, Vadim S., MD, PhD; Thébaud, Bernard, MD, PhD; Thornton, Claire, PhD; Tollin, Daniel J., PhD; Towbin, Jeffrey A., MD; Truog, William E., III, MD; Uhler, Kristin M., PhD; van den Akker, Chris H.P., MD, PhD; Nicolaas van den Anker, John, MD, PhD; van den Hoff, Maurice J.B., PhD; van Goudoever, Johannes (Hans) B., MD, PhD; Vickers, Mark H., PhD; Vinks, Alexander A., PhD, PharmD; Virgintino, Daniela, MD; Visscher, Marty O., PhD; Vonderohe, Caitlin E., DVM, PhD; Vyas, Neha V., MD; Wacker-Gussmann, Annette, MD; Walch, Abby, MD; Wallace, Megan J., BSc, BSc (Hons), PhD; Walsh, Brian H., MB, BCh, PhD; Wambach, Jennifer A., MD; Wang, Linda X., MD; Warburton, David, DSc, MD; Ward, Robert M., MD; Watt, Kevin M., MD, PhD; Watterberg, Kristi L., MD; Werner, Lynne A., PhD; Wernimont, Sarah A., MD, PhD; Wershil, Barry K., MD; Wessels, Andy, PhD; Whitsett, Jeffrey A., MD; Willems, Fabienne, PhD; Win, Myat Su, MBBS, MRCPCH; Wohlmuth, Christoph, MD, PhD; Wolf, Matthias T., MD; Wolfson, Marla R., PhD; Wong, Ronald J., MD; Wynn, James L., MD; Yeo, Lami, MD; Yoder, Bradley A., MD; Yuskaitis, Christopher J., MD, PhD; Zabinsky, Jennifer, MD; Zhou, Dan, PhD

Fetal and Neonatal Physiology, 2-Volume Set. :vi-xxx

Dijck, A. van; Vulto-van Silfhout, A.T.; Cappuyns, E.; Werf, I.M. van der; Mancini, G.M.; Tzschach, A.; Bernier, R.; Gozes, I.; Eichler, E.E.; Romano, C.; Lindstrand, A.; Nordgren, A.; Kvarnung, M.; Kleefstra, T.; Vries, B.B.A. de; Kury, S.; Rosenfeld, J.A.; Meuwissen, M.E.; Vandeweyer, G.; Kooy, R.F.; Bakshi, M.; Wilson, M.; Berman, Y.; Dickson, R.; Fransen, E.; Helsmoortel, C.; Ende, J. van den; Aa, N. van der; Wijdeven, M.J. van de; Rosenblum, J.; Monteiro, F.; Kok, F.; Quercia, N.; Bowdin, S.; Dyment, D.; Chitayat, D.; Alkhunaizi, E.; Boonen, S.E.; Keren, B.; Jacquette, A.; Faivre, L.; Bezieau, S.; Isidor, B.; Riess, A.; Moog, U.; Lynch, S.A.; McVeigh, T.; Elpeleg, O.; Smeland, M.F.; Fannemel, M.; Haeringen, A. van; Maas, S.M.; Veenstra-Knol, H.E.; Schouten, M.; Willemsen, M.H.; Marcelis, C.L.; Ockeloen, C.; Burgt, I. van der; Feenstra, I.; Smagt, J. van der; Jezela-Stanek, A.; Krajewska-Walasek, M.; Gonzalez-Lamuno, D.; Anderlid, B.M.; Malmgren, H.; Nordenskjold, M.; Clement, E.; Hurst, J.; Metcalfe, K.; Mansour, S.; Lachlan, K.; Clayton-Smith, J.; Hendon, L.G.; Abdulrahman, O.A.; Morrow, E.; McMillan, C.; Gerdts, J.; Peeden, J.; Vergano, S.A.S.; Valentino, C.; Chung, W.K.; Ozmore, J.R.; Bedrosian-Sermone, S.; Dennis, A.; Treat, K.; Hughes, S.S.; Safina, N.; Pichon, J.B. le; McGuire, M.; Infante, E.; Madan-Khetarpal, S.; Desai, S.; Benke, P.; Krokosky, A.; Cristian, I.; Baker, L.; Gripp, K.; Stessman, H.A.; Eichenberger, J.; Jayakar, P.; Pizzino, A.; Manning, M.A.; Slattery, L.; ADNP Consortium

Mathew, J.; Zahavich, L.; Lafreniere‐Roula, M.; Wilson, J.; George, K.; Benson, L.; Bowdin, S.; Mital, S.

Clinical Genetics. Feb 01, 2018 93(2):310-319

Hodder A; Great Ormond Street Hospital NHS Foundation Trust, London, UK.; Leiter SM; Wellcome Sanger Institute, Hinxton, UK.; Cambridge University Hospitals NHS Foundation Trust, Cambridge, UK.; Department of Paediatrics, University of Cambridge, Cambridge, UK.; Kennedy J; Great Ormond Street Hospital NHS Foundation Trust, London, UK.; Wellcome Sanger Institute, Hinxton, UK.; Cambridge University Hospitals NHS Foundation Trust, Cambridge, UK.; Department of Paediatrics, University of Cambridge, Cambridge, UK.; Addy D; Great Ormond Street Hospital NHS Foundation Trust, London, UK.; Ahmed M; Great Ormond Street Hospital NHS Foundation Trust, London, UK.; Ajithkumar T; Cambridge University Hospitals NHS Foundation Trust, Cambridge, UK.; Allinson K; Cambridge University Hospitals NHS Foundation Trust, Cambridge, UK.; Ancliff P; Great Ormond Street Hospital NHS Foundation Trust, London, UK.; Bailey S; Cambridge University Hospitals NHS Foundation Trust, Cambridge, UK.; Barnard G; Cambridge University Hospitals NHS Foundation Trust, Cambridge, UK.; Department of Paediatrics, University of Cambridge, Cambridge, UK.; Burke GAA; Cambridge University Hospitals NHS Foundation Trust, Cambridge, UK.; Department of Paediatrics, University of Cambridge, Cambridge, UK.; Burns C; Cambridge University Hospitals NHS Foundation Trust, Cambridge, UK.; Cano-Flanagan J; Great Ormond Street Hospital NHS Foundation Trust, London, UK.; Chalker J; North Thames Genomic Laboratory Hub, London, UK.; Coleman N; Cambridge University Hospitals NHS Foundation Trust, Cambridge, UK.; Department of Pathology, University of Cambridge, Cambridge, UK.; Cheng D; Great Ormond Street Hospital NHS Foundation Trust, London, UK.; Clinch Y; North Thames Genomic Laboratory Hub, London, UK.; Dryden C; Great Ormond Street Hospital NHS Foundation Trust, London, UK.; Ghorashian S; Great Ormond Street Hospital NHS Foundation Trust, London, UK.; UCL Great Ormond Street Institute of Child Health, London, UK.; Griffin B; Great Ormond Street Hospital NHS Foundation Trust, London, UK.; North Thames Genomic Laboratory Hub, London, UK.; Horan G; Cambridge University Hospitals NHS Foundation Trust, Cambridge, UK.; Hubank M; North Thames Genomic Laboratory Hub, London, UK.; The Institute of Cancer Research, London, UK.; May P; Great Ormond Street Hospital NHS Foundation Trust, London, UK.; McDerra J; Great Ormond Street Hospital NHS Foundation Trust, London, UK.; Nagrecha R; Great Ormond Street Hospital NHS Foundation Trust, London, UK.; Nicholson J; Cambridge University Hospitals NHS Foundation Trust, Cambridge, UK.; Department of Paediatrics, University of Cambridge, Cambridge, UK.; O'Connor D; Great Ormond Street Hospital NHS Foundation Trust, London, UK.; UCL Cancer Institute, University College London, London, UK.; Pavasovic V; Great Ormond Street Hospital NHS Foundation Trust, London, UK.; Quaegebeur A; Cambridge University Hospitals NHS Foundation Trust, Cambridge, UK.; Department of Clinical Neurosciences, University of Cambridge, Cambridge, UK.; Rao A; Great Ormond Street Hospital NHS Foundation Trust, London, UK.; Roberts T; Cambridge University Hospitals NHS Foundation Trust, Cambridge, UK.; East Genomics Laboratory Hub, Cambridge, UK.; Samarasinghe S; Great Ormond Street Hospital NHS Foundation Trust, London, UK.; Stasevich I; Great Ormond Street Hospital NHS Foundation Trust, London, UK.; Tadross JA; Cambridge University Hospitals NHS Foundation Trust, Cambridge, UK.; East Genomics Laboratory Hub, Cambridge, UK.; MRC Metabolic Diseases Unit, Wellcome Trust-Medical Research Council Institute of Metabolic Science, University of Cambridge, Cambridge, UK.; Trayers C; Cambridge University Hospitals NHS Foundation Trust, Cambridge, UK.; Trotman J; Cambridge University Hospitals NHS Foundation Trust, Cambridge, UK.; East Genomics Laboratory Hub, Cambridge, UK.; Vora A; Great Ormond Street Hospital NHS Foundation Trust, London, UK.; Watkins J; Cambridge University Hospitals NHS Foundation Trust, Cambridge, UK.; Department of Pathology, University of Cambridge, Cambridge, UK.; East Genomics Laboratory Hub, Cambridge, UK.; Chitty LS; Great Ormond Street Hospital NHS Foundation Trust, London, UK.; North Thames Genomic Laboratory Hub, London, UK.; UCL Great Ormond Street Institute of Child Health, London, UK.; Bowdin S; Cambridge University Hospitals NHS Foundation Trust, Cambridge, UK.; East Genomics Laboratory Hub, Cambridge, UK.; Armstrong R; Cambridge University Hospitals NHS Foundation Trust, Cambridge, UK.; Murray MJ; Cambridge University Hospitals NHS Foundation Trust, Cambridge, UK. mjm16@cam.ac.uk.; Department of Pathology, University of Cambridge, Cambridge, UK. mjm16@cam.ac.uk.; Hook CE; Cambridge University Hospitals NHS Foundation Trust, Cambridge, UK. lizhook@nhs.net.; Department of Pathology, University of Cambridge, Cambridge, UK. lizhook@nhs.net.; Tarpey P; Cambridge University Hospitals NHS Foundation Trust, Cambridge, UK. patrick.tarpey1@nhs.net.; East Genomics Laboratory Hub, Cambridge, UK. patrick.tarpey1@nhs.net.; Vedi A; Cambridge University Hospitals NHS Foundation Trust, Cambridge, UK. a.vedi@nhs.net.; Department of Paediatrics, University of Cambridge, Cambridge, UK. a.vedi@nhs.net.; Bartram J; Great Ormond Street Hospital NHS Foundation Trust, London, UK. jack.bartram@gosh.nhs.uk.; North Thames Genomic Laboratory Hub, London, UK. jack.bartram@gosh.nhs.uk.; Behjati S; Wellcome Sanger Institute, Hinxton, UK. sb31@sanger.ac.uk.; Cambridge University Hospitals NHS Foundation Trust, Cambridge, UK. sb31@sanger.ac.uk.; Department of Paediatrics, University of Cambridge, Cambridge, UK. sb31@sanger.ac.uk.

Publisher: Nature Publishing Company Country of Publication: United States NLM ID: 9502015 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1546-170X (Electronic) Linking ISSN: 10788956 NLM ISO Abbreviation: Nat Med Subsets: MEDLINE

Ouellette, A.C.; Mathew, J.; Manickaraj, A.K.; Manase, G.; Zahavich, L.; Wilson, J.; George, K.; Benson, L.; Bowdin, S.; Mital, S.

Clinical Genetics. Jan 01, 2018 93(1):33-40

Jain, S.; Radivojac, P.; Chu, H.; Bakolitsa, C.; Brenner, S.E.; Repo, S.; Hoskins, R.A.; Andreoletti, G.; Barsky, D.; Ly, M.; Neumann, A.J.; Odell, E.; Pandey, G.; Peters-Petrulewicz, R.C.; Yee, S.F.; Adhikari, A.; Chen, J.; Hu, Z.; Wang, R.; Wang, Y.; Huang, C.V.; Kirsch, J.F.; Kreimer, A.; Yan, Z.; Yosef, N.; Arkin, A.P.; Dimster-Denk, D.F.; Rine, J.D.; Chandonia, J.-M.; Furutsuki, M.; Kasak, L.; Yu, C.; Ioannidis, N.M.; Guerrero, R.F.; Jiang, Y.; Pagel, K.A.; Stamboulian, M.H.; Moult, J.; Pal, L.R.; Zuhl, M.; Teerakulkittipong, N.; Cao, C.; Kundu, K.; Yin, Y.; Yu, C.-H.; Kleyman, M.; Stackpole, M.; Mount, S.M.; Chellapan, A.; Dabbiru, N.; Kollipara, N.K.; Srinivasan, R.; Yeleswarapu, S.J.; Joseph, T.; Kotte, S.; Rana, S.; Rao, A.; Saipradeep, V.G.; Sivadasan, N.; Sunderam, U.; Tokheim, C.; Kim, D.; Kellis, M.; Eraslan, G.; Sabeti, P.C.; Getz, G.A.; O’Donnell-Luria, A.; Pejaver, V.; Jordan, D.M.; Adebali, O.; Berry, M.; Patra, A.; Beer, M.A.; Favorov, A.V.; Guthrie, V.B.; Bhattacharya, R.; Chen, Y.-C.; Douville, C.; Fan, J.; Masica, D.; Niknafs, N.; Sengupta, S.; Turner, T.N.; Yeo, H.T.G.; Karchin, R.; Shigaki, D.; Hosur, R.; Peng, J.; Edwards, M.D.; Guo, Y.; Tian, K.; Zeng, H.; Gifford, D.K.; Li, Y.; Bernard, B.M.; Dong, S.; Boyle, A.P.; Batzoglou, S.; Kahn, S.; Shon, J.; Lin, C.-F.; Miller, M.; Wang, Y.; Bromberg, Y.; Turina, P.; Capriotti, E.; Babbi, G.; Bovo, S.; Di Lena, P.; Martelli, P.L.; Savojardo, C.; Casadio, R.; Han, J.J.; Ozturk, K.; Carter, H.; Cline, M.S.; Diekhans, M.; Sanford, J.R.; Sokolov, A.; Stuart, J.M.; De Baets, G.; Rousseau, F.; Schymkowitz, J.; Van Durme, J.; Bonache, S.; Díez, O.; Gutiérrez-Enríquez, S.; Fernández, A.; Montalban, G.; Ootes, L.; Özkan, S.; Padilla, N.; Riera, C.; De la Cruz, X.; Rao, A.R.; Huwe, P.J.; Wei, Q.; Xu, Q.; Dunbrack, R.L.; Wahl, M.E.; Gotea, V.; Elnitski, L.; Margolin, G.; Fariselli, P.; Carraro, M.; Giollo, M.; Tosatto, S.C.E.; Lovisa, F.; Bonvini, P.; Bettella, E.; Cesca, F.; Polli, R.; Sartori, S.; Toldo, I.; Aspromonte, M.C.; Bellini, M.; Leonardi, E.; Murgia, A.; Minervini, G.; Monzon, A.M.; Kulakovskiy, I.V.; Makeev, V.J.; Penzar, D.D.; Vorontsov, I.E.; Forman, J.R.; Hawkins-Hooker, A.; Kenlay, H.; Reid, J.; Puglisi, R.; Hubbard, T.J.P.; Hasenahuer, M.; Fornasari, M.S.; Parisi, G.; Ritchie, G.R.S.; Frankish, A.; Mudge, J.M.; Avsec, Z.; Çelik, M.H.; Nguyen, T.Y.D.; Gagneur, J.; Lathrop, R.H.; Shi, F.-Y.; Wang, M.; Klein, T.E.; Sinnott-Armstrong, N.A.; Kundaje, A.; Sundaram, L.; Daneshjou, R.; Altman, R.B.; Nadeau, K.C.Y.; Snyder, M.; McInnes, G.; Chen, R.; Morgan, A.A.; Göke, J.; Ng, P.C.; Zaucha, J.; Gough, J.; Harrow, J.; Jacobsen, J.O.B.; Young, E.L.; Tavtigian, S.V.; Yu, Y.; Huff, C.D.; Murakami, K.; Nagai, Y.; Imanishi, T.; Mungall, C.J.; Shatsky, M.; Kim, D.; Jeong, C.-S.; Jones, D.T.; Li, M.J.; Pirooznia, M.; Shin, S.; Welch, R.; Keles, S.; Meyn, M.S.; Hunter, J.M.; Udani, R.; Hernandez, R.; Corbi-Verge, C.; Strokach, A.V.; Kim, P.M.; Mezlini, A.M.; Marshall, C.; Cote, A.G.; Sun, S.; Verby, M.W.; Weile, J.; Roth, F.P.; Stavropoulos, D.J.; Mohan, R.; Wainberg, M.; Tran, E.; Gonzaludo, N.; Mak, A.C.Y.; Breese, M.R.; Inoue, F.; Ahituv, N.; Malloy, M.J.; Kane, J.P.; Mak, A.C.Y.; Tang, P.L.F.; Kwok, P.-Y.; Campagna, J.; Refaat, M.M.; Wojciak, J.; Ziv, E.; Chen, F.; Harris-Wai, J.; Koenig, B.A.; Butte, A.J.; Chhibber, A.; Lam, H.Y.K.; Dahary, D.; Fishilevich, S.; Lancet, D.; Lee, I.; Bachman, B.; Katsonis, P.; Lua, R.C.; Wilson, S.J.; Lichtarge, O.; Bhat, R.R.; Viswanath, V.; Bellazzi, R.; Nicora, G.; Rizzo, E.; Limongelli, I.; Chang, R.; Kim, S.; Lai, C.; O’Connor, R.; Topper, S.; van den Akker, J.; Zhou, A.Y.; Zimmer, A.D.; Mishne, G.; Bergquist, T.R.; Kiga, N.; Mooney, S.D.; Lee, G.R.; Matreyek, K.A.; Starita, L.M.; Fowler, D.M.; Shendure, J.; Burke, W.; Cai, B.; Li, B.; Mort, M.; Thusberg, J.; Cooper, D.N.; Cygan, K.J.; Mueller, N.S.; Naito, T.; Azaria, J.R.; Brodie, A.; Ofran, Y.; Adato, O.; Fenesh, T.; Holtzer, T.; Juven-Gershon, T.; Unger, R.; Garg, A.; Pal, D.; Mucaki, E.J.; Rogan, P.K.; Schwarz, J.M.; Schubach, M.; Kircher, M.; Searls, D.B.; Carr, L.R.; Martinez, S.; Paik, J.; Seok, C.; Krämer, A.; Shah, S.; Buckley, B.A.; Nussbaum, R.L.; Karimi, M.; Cao, Y.; Chen, H.; Moronfoye, O.; Sun, Y.; Shen, Y.; Shigeta, R.; Ford, C.T.; Nodzak, C.; Uppal, A.; Shi, X.; Stanke, M.; Su, A.; Wu, C.; Adzhubey, I.; Sunyaev, S.; Ball, M.P.; Bobe, J.R.; Church, G.M.; Carmel, L.; Cohen, N.E.; Niroula, A.; Vihinen, M.; Olatubosun, A.; Väliaho, J.; Yang, Y.; Chang, B.; Chong, K.C.; Sun, R.; Wu, W.K.K.; Xia, X.; Zee, B.C.; Wang, M.H.; Hu, I.; Lu, Y.; Chen, K.; Yang, Y.; Folkman, L.; Zhou, Y.; Zhao, H.; Yates, C.M.; Wei, Z.; Zhou, F.; Yao, Z.; Bowdin, S.; Gianni, S.; Novak, L.; Toto, A.; Consalvi, V.; Mantuano, E.; Veneziano, L.; Minicozzi, V.; Pasquo, A.; Pastore, A.; Petrosino, M.; Chiaraluce, R.; Sheridan, M.B.; Cutting, G.R.; Potash, J.B.; Zandi, P.P.; Scaini, M.C.; Elefanti, L.; Menin, C.; Fredericks, A.M.; Glidden, D.T.; Neil, C.; Rhine, C.L.; Fairbrother, W.G.; Alontaga, A.Y.; Fenton, A.W.; Löscher, B.-S.; Franke, A.; Adamson, S.I.; Graveley, B.R.; Gray, J.W.; Kousi, M.; Katsanis, N.; Clark, W.T.; Yu, G.K.; LeBowitz, J.H.; Benedicenti, F.; Stanzial, F.; Bigoni, S.; Mammi, I.; Marino-Buslje, C.; Milani, D.; Peron, A.; Turolla, L.; Liu, X.; McCombie, W.R.; Neuhausen, S.L.; Tewhey, R.; Grubb, S.; Schmitt, N.; Spurdle, A.B.; Walton, N.A.; Yarborough, M.; Fullerton, S.M.; Friedberg, I.; Cong, Q.; Kinch, L.N.; Zhang, J.; Grishin, N.V.; Voskanian, A.; Kann, M.G.; Greenblatt, M.S.; Hart, R.K.; Veltman, J.; Zook, J.M.

In: Genome Biology. (Genome Biology, December 2024, 25(1))

Bowdin, S. C.; Hayeems, R. Z.; Monfared, N.; Cohn, R. D.; Meyn, M. S.

Clinical Genetics. Jan 01, 2016 89(1):10-19