부산대학교 도서관

Ansari, Morad ; Faour, Kamli N.W. ; Shimamura, Akiko ; Grimes, Graeme ; Kao, Emeline M. ; Denhoff, Erica R. ; Blatnik, Ana ; Ben-Isvy, Daniel ; Wang, Lily ; Helm, Benjamin M. ; Firth, Helen ; Breman, Amy M. ; Bijlsma, Emilia K. ; Iwata-Otsubo, Aiko ; de Ravel, Thomy J.L. ; Fusaro, Vincent ; Fryer, Alan ; Nykamp, Keith ; Stühn, Lara G. ; Haack, Tobias B. ; Korenke, G. Christoph ; Constantinou, Panayiotis ; Bujakowska, Kinga M. ; Low, Karen J. ; Place, Emily ; Humberson, Jennifer ; Napier, Melanie P. ; Hoffman, Jessica ; Juusola, Jane ; Deardorff, Matthew A. ; Shao, Wanqing ; Rockowitz, Shira ; Krantz, Ian ; Kaur, Maninder ; Raible, Sarah ; Dortenzio, Victoria ; Kliesch, Sabine ; Singer-Berk, Moriel ; Groopman, Emily ; DiTroia, Stephanie ; Ballal, Sonia ; Srivastava, Siddharth ; Rothfelder, Kathrin ; Biskup, Saskia ; Rzasa, Jessica ; Kerkhof, Jennifer ; McConkey, Haley ; Sadikovic, Bekim ; Hilton, Sarah ; Banka, Siddharth ; Tüttelmann, Frank ; Conrad, Donald F. ; O’Donnell-Luria, Anne ; Talkowski, Michael E. ; FitzPatrick, David R. ; Boone, Philip M.

In Human Genetics and Genomics Advances 11 April 2024 5(2)

Liu, Sanxiong ; Aldinger, Kimberly A. ; Cheng, Chi Vicky ; Kiyama, Takae ; Dave, Mitali ; McNamara, Hanna K. ; Zhao, Wukui ; Stafford, James M. ; Descostes, Nicolas ; Lee, Pedro ; Caraffi, Stefano G. ; Ivanovski, Ivan ; Errichiello, Edoardo ; Zweier, Christiane ; Zuffardi, Orsetta ; Schneider, Michael ; Papavasiliou, Antigone S. ; Perry, M. Scott ; Humberson, Jennifer ; Cho, Megan T. ; Weber, Astrid ; Swale, Andrew ; Badea, Tudor C. ; Mao, Chai-An ; Garavelli, Livia ; Dobyns, William B. ; Reinberg, Danny

In Molecular Cell 18 November 2021 81(22):4663-4676

Erdogan, Esin Nur; Cheng, Chi Vicky; Caraffi, Stefano G.; Ivanovski, Ivan; Piatelli, Gianluca; Errichiello, Edoardo; Papavasiliou, Antigone S.; Vasileiou, Georgia; Reis, André; Prince, Bradley; Hickey, Scott E.; Koboldt, Daniel C.; Schneider, Michael C.; Porrmann, Joseph; Di Donato, Nataliya; Leis, Thomas; Perry, M. Scott; Humberson, Jennifer; Rotenberg, Joshua; Bakhtiari, Somayeh

American Journal of Medical Genetics. Part A; Sep2025, Vol. 197 Issue 9, p1-10, 10p

Shankar, Suma P.; Humberson, Jennifer; Melvani, Rakhi; Couser, Natario L.

In Ophthalmic Genetic Diseases 2019:129-135

Cogné, Benjamin; Ehresmann, Sophie; Beauregard-Lacroix, Eliane; Rousseau, Justine; Besnard, Thomas; Garcia, Thomas; Petrovski, Slavé; Avni, Shiri; Mcwalter, Kirsty; Blackburn, Patrick; Sanders, Stephan; Uguen, Kévin; Harris, Jacqueline; Cohen, Julie; Blyth, Moira; Lehman, Anna; Berg, Jonathan; Li, Mindy; Kini, Usha; Joss, Shelagh; Lippe, Charlotte von Der; Gordon, Christopher; Humberson, Jennifer; Robak, Laurie; Scott, Daryl; Sutton, Vernon; Skraban, Cara; Johnston, Jennifer; Poduri, Anna; Nordenskjöld, Magnus; Shashi, Vandana; Gerkes, Erica; Bongers, Ernie M.H.F.; Gilissen, Christian; Zarate, Yuri; Kvarnung, Malin; Lally, Kevin; Kulch, Peggy; Daniels, Brina; García, Andres; Stong, Nicholas; Mcgaughran, Julie; Retterer, Kyle; Tveten, Kristian; Sullivan, Jennifer; Geisheker, Madeleine; Stray-Pedersen, Asbjorg; Tarpinian, Jennifer; Klee, Eric; Sapp, Julie; Zyskind, Jacob; Holla, Øystein; Bedoukian, Emma; Filippini, Francesca; Guimier, Anne; Picard, Arnaud; Busk, Øyvind; Punetha, Jaya; Pfundt, Rolph; Lindstrand, Anna; Nordgren, Ann; Kalb, Fayth; Desai, Megha; Ebanks, Ashley Harmon; Jhangiani, Shalini; Dewan, Tammie; Coban Akdemir, Zeynep; Telegrafi, Aida; Zackai, Elaine; Begtrup, Amber; Song, Xiaofei; Toutain, Ann; Wentzensen, Ingrid; Odent, Sylvie; Bonneau, Dominique; Latypova, Xenia; Deb, Wallid; Redon, Sylvia; Bilan, Frédéric; Legendre, Marine; Troyer, Caitlin; Whitlock, Kerri; Caluseriu, Oana; Murphree, Marine; Pichurin, Pavel; Agre, Katherine; Gavrilova, Ralitza; Rinne, Tuula; Park, Meredith; Shain, Catherine; Heinzen, Erin; Xiao, Rui; Amiel, Jeanne; Lyonnet, Stanislas; Isidor, Bertrand; Biesecker, Leslie; Lowenstein, Dan; Posey, Jennifer; Denommé-Pichon, Anne-Sophie; Férec, Claude; Yang, Xiang-Jiao; Rosenfeld, Jill; Gilbert-Dussardier, Brigitte; Audebert-Bellanger, Séverine; Redon, Richard; Stessman, Holly A.F.; Nellaker, Christoffer; Yang, Yaping; Lupski, James; Goldstein, David; Eichler, Evan; Bolduc, Francois; Bézieau, Stéphane; Küry, Sébastien; Campeau, Philippe

American Journal of Human Genetics, 104, 3, pp. 530-541
American journal of human genetics, vol 104, iss 3

van Woerden GM; Department of Neuroscience, Erasmus MC, Rotterdam, The Netherlands.; The ENCORE Expertise Center for Neurodevelopmental Disorders, Erasmus MC, Rotterdam, The Netherlands.; Department of Clinical Genetics, Erasmus MC, Rotterdam, The Netherlands.; Bos M; Department of Human Genetics, Radboud University Medical Center, Donders Institute for Brain, Cognition and Behaviour, Nijmegen, The Netherlands.; de Konink C; Department of Neuroscience, Erasmus MC, Rotterdam, The Netherlands.; Distel B; Department of Neuroscience, Erasmus MC, Rotterdam, The Netherlands.; The ENCORE Expertise Center for Neurodevelopmental Disorders, Erasmus MC, Rotterdam, The Netherlands.; Department of Medical Biochemistry, Amsterdam UMC, University of Amsterdam, Amsterdam, The Netherlands.; Avagliano Trezza R; Department of Neuroscience, Erasmus MC, Rotterdam, The Netherlands.; Shur NE; Division of Genetics and Metabolism, Rare Disease Institute, Children's National Medical Center, Washington, District of Columbia, USA.; Barañano K; Department of Neurogenetics, Kennedy Krieger Institute, Baltimore, Maryland, USA.; Mahida S; Department of Neurogenetics, Kennedy Krieger Institute, Baltimore, Maryland, USA.; Chassevent A; Department of Neurogenetics, Kennedy Krieger Institute, Baltimore, Maryland, USA.; Schreiber A; Genomic Medicine Institute, Cleveland Clinic, Cleveland, Ohio, USA.; Erwin AL; Genomic Medicine Institute, Cleveland Clinic, Cleveland, Ohio, USA.; Gripp KW; Division of Medical Genetics, Nemours/A.I. duPont Hospital for Children, Wilmington, Delaware, USA.; Rehman F; Department of Neuroscience, Erasmus MC, Rotterdam, The Netherlands.; Brulleman S; Department of Neuroscience, Erasmus MC, Rotterdam, The Netherlands.; McCormack R; Department of Neuroscience, Erasmus MC, Rotterdam, The Netherlands.; de Geus G; Department of Neuroscience, Erasmus MC, Rotterdam, The Netherlands.; Kalsner L; Departments of Neurology and Pediatrics, Connecticut Children's Medical Center and University of Connecticut School of Medicine, Farmington, Connecticut, USA.; Sorlin A; UMR1231 GAD, Inserm, Université Bourgogne-Franche Comté, Dijon, France.; Unité Fonctionnelle Innovation en Diagnostic génomique des maladies rares, FHU-TRANSLAD, CHU Dijon Bourgogne, Dijon, France.; Centre de Référence maladies rares «Anomalies du Développement et syndromes malformatifs», Centre de Génétique, FHU-TRANSLAD, CHU Dijon Bourgogne, Dijon, France.; Bruel AL; UMR1231 GAD, Inserm, Université Bourgogne-Franche Comté, Dijon, France.; Unité Fonctionnelle Innovation en Diagnostic génomique des maladies rares, FHU-TRANSLAD, CHU Dijon Bourgogne, Dijon, France.; Centre de Référence maladies rares «Anomalies du Développement et syndromes malformatifs», Centre de Génétique, FHU-TRANSLAD, CHU Dijon Bourgogne, Dijon, France.; Koolen DA; Department of Human Genetics, Radboud University Medical Center, Donders Institute for Brain, Cognition and Behaviour, Nijmegen, The Netherlands.; Gabriel MK; Department of Clinical Diagnostics, Ambry Genetics, Aliso Viejo, California, USA.; Rossi M; Department of Clinical Diagnostics, Ambry Genetics, Aliso Viejo, California, USA.; Fitzpatrick DR; MRC Human Genetics Unit, MRC IGMM, University of Edinburgh, Edinburgh, UK.; Wilkie AOM; Clinical Genetics Group, MRC Weatherall Institute of Molecular Medicine, University of Oxford, Oxford, UK.; Oxford Craniofacial Unit, Oxford University Hospital NHS Foundation Trust, John Radcliffe Hospital, Oxford, UK.; Calpena E; Clinical Genetics Group, MRC Weatherall Institute of Molecular Medicine, University of Oxford, Oxford, UK.; Johnson D; Oxford Craniofacial Unit, Oxford University Hospital NHS Foundation Trust, John Radcliffe Hospital, Oxford, UK.; Brooks A; Department of Clinical Genetics, Erasmus MC, Rotterdam, The Netherlands.; van Slegtenhorst M; Department of Clinical Genetics, Erasmus MC, Rotterdam, The Netherlands.; Fleischer J; Department of Pediatrics, SIU School of Medicine, Springfield, Illinois, USA.; Groepper D; Department of Pediatrics, SIU School of Medicine, Springfield, Illinois, USA.; Lindstrom K; Division of Genetics and Metabolism, Phoenix Children's Hospital, Phoenix, Arizona, USA.; Innes AM; Department of Medical Genetics and Alberta Children's Hospital Research Institute, Cumming School of Medicine, University of Calgary, Calgary, Alberta, Canada.; Goodwin A; VCU Medical Center, Clinical Genetics Services, Richmond, Virginia, USA.; Humberson J; Division of Pediatric Genetics, Department of Pediatrics, University of Virginia Medical Center, Charlottesville, Virginia, USA.; Noyes A; GeneDx, Gaithersburg, Maryland, USA.; Langley KG; GeneDx, Gaithersburg, Maryland, USA.; Telegrafi A; GeneDx, Gaithersburg, Maryland, USA.; Blevins A; GeneDx, Gaithersburg, Maryland, USA.; Hoffman J; GeneDx, Gaithersburg, Maryland, USA.; Guillen Sacoto MJ; GeneDx, Gaithersburg, Maryland, USA.; Juusola J; GeneDx, Gaithersburg, Maryland, USA.; Monaghan KG; GeneDx, Gaithersburg, Maryland, USA.; Punj S; GeneDx, Gaithersburg, Maryland, USA.; Simon M; Department of Genetics, University Medical Center Utrecht, Utrecht, The Netherlands.; Pfundt R; Department of Human Genetics, Radboud University Medical Center, Donders Institute for Brain, Cognition and Behaviour, Nijmegen, The Netherlands.; Elgersma Y; Department of Neuroscience, Erasmus MC, Rotterdam, The Netherlands.; The ENCORE Expertise Center for Neurodevelopmental Disorders, Erasmus MC, Rotterdam, The Netherlands.; Kleefstra T; Department of Human Genetics, Radboud University Medical Center, Donders Institute for Brain, Cognition and Behaviour, Nijmegen, The Netherlands.

Publisher: Wiley-Liss Country of Publication: United States NLM ID: 9215429 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1098-1004 (Electronic) Linking ISSN: 10597794 NLM ISO Abbreviation: Hum Mutat Subsets: MEDLINE

Shang, Linshan; Cho, Megan; Retterer, Kyle; Folk, Leandra; Humberson, Jennifer; Rohena, Luis; Sidhu, Alpa; Saliganan, Sheila; Iglesias, Alejandro; Vitazka, Patrik; Juusola, Jane; O'Donnell-Luria, Anne; Shen, Yufeng; Chung, Wendy

Neurogenetics; Oct2015, Vol. 16 Issue 4, p307-314, 8p

Ansari M; South East Scotland Genetic Service, Western General Hospital, Edinburgh, UK.; MRC Human Genetics Unit, Institute of Genetics and Cancer, University of Edinburgh, Edinburgh, UK.; These authors contributed equally.; Faour KNW; Division of Genetics and Genomics, Boston Children's Hospital, Boston, MA, US.; Cornelia de Lange Syndrome and Related Disorders Clinic, Boston Children's Hospital, Boston, MA, US.; These authors contributed equally.; Shimamura A; Division of Hematology and Oncology, Boston Children's Hospital, Boston, MA, US.; Grimes G; MRC Human Genetics Unit, Institute of Genetics and Cancer, University of Edinburgh, Edinburgh, UK.; Kao EM; Institutional Centers for Clinical and Translational Research, Boston Children's Hospital, Boston, MA, US.; Denhoff ER; Institutional Centers for Clinical and Translational Research, Boston Children's Hospital, Boston, MA, US.; Blatnik A; MRC Human Genetics Unit, Institute of Genetics and Cancer, University of Edinburgh, Edinburgh, UK.; Department of Clinical Cancer Genetics, Institute of Oncology Ljubljana, Ljubljana, SI.; Ben-Isvy D; Center for Genomic Medicine, Massachusetts General Hospital, Boston, MA, US.; Medical and Population Genetics, The Broad Institute of MIT and Harvard, Cambridge, MA, US.; Division of Medical Sciences, Harvard Medical School, Boston, MA, US.; Wang L; Center for Genomic Medicine, Massachusetts General Hospital, Boston, MA, US.; Medical and Population Genetics, The Broad Institute of MIT and Harvard, Cambridge, MA, US.; Division of Medical Sciences, Harvard Medical School, Boston, MA, US.; Helm BM; Department of Medical and Molecular Genetics, Indiana University School of Medicine, Indianapolis, IN, US.; Firth H; Clinical Genetics, Addenbrooke's Hospital, Cambridge University Hospitals, Cambridge, UK.; Breman AM; Department of Medical and Molecular Genetics, Indiana University School of Medicine, Indianapolis, IN, US.; Bijlsma EK; Department of Clinical Genetics, Leiden University Medical Centre, Leiden, NL.; Iwata-Otsubo A; Department of Medical and Molecular Genetics, Indiana University School of Medicine, Indianapolis, IN, US.; de Ravel TJL; Centre for Human Genetics, UZ Leuven/ Leuven University Hospitals, Leuven, BE.; Fusaro V; Invitae, San Francisco, CA, US.; Fryer A; Department of Clinical Genetics, Alder Hey Children's Hospital Liverpool, Liverpool, UK.; Nykamp K; Invitae, San Francisco, CA, US.; Stühn LG; Institute of Medical Genetics and Applied Genomics, University of Tuebingen, Tuebingen, DE.; Haack TB; Institute of Medical Genetics and Applied Genomics, University of Tuebingen, Tuebingen, DE.; Korenke GC; University Children's Hospital Oldenburg, Department of Neuropaediatric and Metabolic Diseases, University Children's Hospital Oldenburg, Oldenburg, DE.; Constantinou P; West of Scotland Centre for Genomic Medicine, Queen Elizabeth University Hospital, Glasgow, UK.; Bujakowska KM; Massachusetts Eye and Ear Infirmary, Boston, MA, US.; Low KJ; University Hospitals Bristol and Weston NHS Foundation Trust, Bristol, UK.; University of Bristol, Bristol, UK.; Place E; Massachusetts Eye and Ear Infirmary, Boston, MA, US.; Humberson J; University of Virginia Health System, Charlottesville, VA, US.; Napier MP; GeneDx, Gaithersburg, MD, US.; Hoffman J; GeneDx, Gaithersburg, MD, US.; Juusola J; GeneDx, Gaithersburg, MD, US.; Deardorff MA; Departments of Pathology and Pediatrics, Children's Hospital Los Angeles and University of Southern California, Los Angeles, CA, US.; Shao W; Research Computing, Information Technology, Boston Children's Hospital, Boston, MA, US.; Rockowitz S; Research Computing, Information Technology, Boston Children's Hospital, Boston, MA, US.; The Manton Center for Orphan Disease Research, Boston Children's Hospital, Boston, MA, US.; Division of Genetics and Genomics, Boston Children's Hospital, Boston, MA, US.; Krantz I; Children's Hospital of Philadelphia, Philadelphia, PA, US.; Kaur M; Children's Hospital of Philadelphia, Philadelphia, PA, US.; Raible S; Children's Hospital of Philadelphia, Philadelphia, PA, US.; Kliesch S; Department of Clinical and Surgical Andrology, Centre of Reproductive Medicine and Andrology, University Hospital Münster, Münster, DE.; Singer-Berk M; Medical and Population Genetics, The Broad Institute of MIT and Harvard, Cambridge, MA, US.; Groopman E; Division of Genetics and Genomics, Boston Children's Hospital, Boston, MA, US.; Medical and Population Genetics, The Broad Institute of MIT and Harvard, Cambridge, MA, US.; DiTroia S; Medical and Population Genetics, The Broad Institute of MIT and Harvard, Cambridge, MA, US.; Ballal S; Cornelia de Lange Syndrome and Related Disorders Clinic, Boston Children's Hospital, Boston, MA, US.; Division of Gastroenterology, Boston Children's Hospital, Boston, MA, US.; Srivastava S; Cornelia de Lange Syndrome and Related Disorders Clinic, Boston Children's Hospital, Boston, MA, US.; Divison of Neurology, Boston Children's Hospital, Boston, MA, US.; Rothfelder K; Zentrum für Humangenetik, Tübingen, DE.; Biskup S; Zentrum für Humangenetik, Tübingen, DE.; Center for Genomics and Transcriptomics (CeGaT), Tübingen, DE.; Rzasa J; Molecular Diagnostics Program and Verspeeten Clinical Genome Centre, LHSC, London, CA.; Kerkhof J; Molecular Diagnostics Program and Verspeeten Clinical Genome Centre, LHSC, London, CA.; McConkey H; Molecular Diagnostics Program and Verspeeten Clinical Genome Centre, LHSC, London, CA.; O'Donnell-Luria A; Division of Genetics and Genomics, Boston Children's Hospital, Boston, MA, US.; Center for Genomic Medicine, Massachusetts General Hospital, Boston, MA, US.; Medical and Population Genetics, The Broad Institute of MIT and Harvard, Cambridge, MA, US.; Sadikovic B; Molecular Diagnostics Program and Verspeeten Clinical Genome Centre, LHSC, London, CA.; Hilton S; Manchester University, Manchester, UK.; Banka S; Manchester University, Manchester, UK.; Tüttelmann F; Institute of Reproductive Genetics, University of Münster, Münster, DE.; Conrad D; Division of Genetics, Oregon National Primate Research Center, Oregon Health and Science University, Portland, OR, US.; Center for Embryonic Cell and Gene Therapy, Oregon Health and Science University, Portland, OR, US.; Talkowski ME; Medical and Population Genetics, The Broad Institute of MIT and Harvard, Cambridge, MA, US.; Center for Genomic Medicine, Massachusetts General Hospital, Boston, MA, US.; FitzPatrick DR; MRC Human Genetics Unit, Institute of Genetics and Cancer, University of Edinburgh, Edinburgh, UK.; These authors contributed equally.; Boone PM; Cornelia de Lange Syndrome and Related Disorders Clinic, Boston Children's Hospital, Boston, MA, US.; Division of Genetics and Genomics, Boston Children's Hospital, Boston, MA, US.; Center for Genomic Medicine, Massachusetts General Hospital, Boston, MA, US.; Medical and Population Genetics, The Broad Institute of MIT and Harvard, Cambridge, MA, US.; These authors contributed equally.

Country of Publication: United States NLM ID: 101767986 Publication Model: Electronic Cited Medium: Internet NLM ISO Abbreviation: medRxiv Subsets: PubMed not MEDLINE

Wiley, John; Schmidt, Karen; Humberson, Jennifer; Wefuan; O'Keefe, Siobhan

J Med Case Rep