부산대학교 도서관

Rots, Dmitrijs ; Bouman, Arianne ; Yamada, Ayumi ; Levy, Michael ; Dingemans, Alexander J.M. ; de Vries, Bert B.A. ; Ruiterkamp-Versteeg, Martina ; de Leeuw, Nicole ; Ockeloen, Charlotte W. ; Pfundt, Rolph ; de Boer, Elke ; Kummeling, Joost ; van Bon, Bregje ; van Bokhoven, Hans ; Kasri, Nael Nadif ; Venselaar, Hanka ; Alders, Marielle ; Kerkhof, Jennifer ; McConkey, Haley ; Kuechler, Alma ; Elffers, Bart ; van Beeck Calkoen, Rixje ; Hofman, Susanna ; Smith, Audrey ; Valenzuela, Maria Irene ; Srivastava, Siddharth ; Frazier, Zoe ; Maystadt, Isabelle ; Piscopo, Carmelo ; Merla, Giuseppe ; Balasubramanian, Meena ; Santen, Gijs W.E. ; Metcalfe, Kay ; Park, Soo-Mi ; Pasquier, Laurent ; Banka, Siddharth ; Donnai, Dian ; Weisberg, Daniel ; Strobl-Wildemann, Gertrud ; Wagemans, Annemieke ; Vreeburg, Maaike ; Baralle, Diana ; Foulds, Nicola ; Scurr, Ingrid ; Brunetti-Pierri, Nicola ; van Hagen, Johanna M. ; Bijlsma, Emilia K. ; Hakonen, Anna H. ; Courage, Carolina ; Genevieve, David ; Pinson, Lucile ; Forzano, Francesca ; Deshpande, Charu ; Kluskens, Maria L. ; Welling, Lindsey ; Plomp, Astrid S. ; Vanhoutte, Els K. ; Kalsner, Louisa ; Hol, Janna A. ; Putoux, Audrey ; Lazier, Johanna ; Vasudevan, Pradeep ; Ames, Elizabeth ; O'Shea, Jessica ; Lederer, Damien ; Fleischer, Julie ; O'Connor, Mary ; Pauly, Melissa ; Vasileiou, Georgia ; Reis, André ; Kiraly-Borri, Catherine ; Bouman, Arjan ; Barnett, Chris ; Nezarati, Marjan ; Borch, Lauren ; Beunders, Gea ; Özcan, Kübra ; Miot, Stéphanie ; Volker-Touw, Catharina M.L. ; van Gassen, Koen L.I. ; Cappuccio, Gerarda ; Janssens, Katrien ; Mor, Nofar ; Shomer, Inna ; Dominissini, Dan ; Tedder, Matthew L. ; Muir, Alison M. ; Sadikovic, Bekim ; Brunner, Han G. ; Vissers, Lisenka E.L.M. ; Shinkai, Yoichi ; Kleefstra, Tjitske

In The American Journal of Human Genetics 8 August 2024 111(8):1605-1625

Radio F. C.; Pang K.; Ciolfi A.; Levy M. A.; Hernandez-Garcia A.; Pedace L.; Pantaleoni F.; Liu Z.; de Boer E.; Jackson A.; Bruselles A.; McConkey H.; Stellacci E.; Lo Cicero S.; Motta M.; Carrozzo R.; Dentici M. L.; McWalter K.; Desai M.; Monaghan K. G.; Telegrafi A.; Philippe C.; Vitobello A.; Au M.; Grand K.; Sanchez-Lara P. A.; Baez J.; Lindstrom K.; Kulch P.; Sebastian J.; Madan-Khetarpal S.; Roadhouse C.; MacKenzie J. J.; Monteleone B.; Saunders C. J.; Jean Cuevas J. K.; Cross L.; Zhou D.; Hartley T.; Sawyer S. L.; Monteiro F. P.; Secches T. V.; Kok F.; Schultz-Rogers L. E.; Macke E. L.; Morava E.; Klee E. W.; Kemppainen J.; Iascone M.; Selicorni A.; Tenconi R.; Amor D. J.; Pais L.; Gallacher L.; Turnpenny P. D.; Stals K.; Ellard S.; Cabet S.; Lesca G.; Pascal J.; Steindl K.; Ravid S.; Weiss K.; Castle A. M. R.; Carter M. T.; Kalsner L.; de Vries B. B. A.; van Bon B. W.; Wevers M. R.; Pfundt R.; Stegmann A. P. A.; Kerr B.; Kingston H. M.; Chandler K. E.; Sheehan W.; Elias A. F.; Shinde D. N.; Towne M. C.; Robin N. H.; Goodloe D.; Vanderver A.; Sherbini O.; Bluske K.; Hagelstrom R. T.; Zanus C.; Faletra F.; Musante L.; Kurtz-Nelson E. C.; Earl R. K.; Anderlid B. -M.; Morin G.; van Slegtenhorst M.; Diderich K. E. M.; Brooks A. S.; Gribnau J.; Boers R. G.; Finestra T. R.; Carter L. B.; Rauch A.; Gasparini P.; Boycott K. M.; Barakat T. S.; Graham J. M.; Faivre L.; Banka S.; Wang T.; Eichler E. E.; Priolo M.; Dallapiccola B.; Vissers L. E. L. M.; Sadikovic B.; Scott D. A.; Holder J. L.; Tartaglia M.

American Journal of Human Genetics, 108, 3, pp. 502-516
SPEN study group 2021, 'SPEN haploinsufficiency causes a neurodevelopmental disorder overlapping proximal 1p36 deletion syndrome with an episignature of X chromosomes in females', American Journal of Human Genetics. https://doi.org/10.1016/j.ajhg.2021.01.015

Rots, D.; Bouman, A.; Yamada, A.; Levy, M.; Dingemans, A.J.M.; Vries, B.B.A. de; Ruiterkamp-Versteeg, M.; Leeuw, N. de; Ockeloen, C.W.; Pfundt, R.; Boer, E. de; Kummeling, J.; Bon, B. van; Bokhoven, H. van; Kasri, N.N.; Venselaar, H.; Alders, M.; Kerkhof, J.; McConkey, H.; Kuechler, A.; Elffers, B.; Calkoen, R.V.; Hofman, S.; Smith, A.; Valenzuela, M.I.; Srivastava, S.; Frazier, Z.; Maystadt, I.; Piscopo, C.; Merla, G.; Balasubramanian, M.; Santen, G.W.E.; Metcalfe, K.; Park, S.M.; Pasquier, L.; Banka, S.; Donnai, D.; Weisberg, D.; Strobl-Wildemann, G.; Wagemans, A.; Vreeburg, M.; Baralle, D.; Foulds, N.; Scurr, I.; Brunetti-Pierri, N.; Hagen, J.M. van; Bijlsma, E.K.; Hakonen, A.H.; Courage, C.; Genevieve, D.; Pinson, L.; Forzano, F.; Deshpande, C.; Kluskens, M.L.; Welling, L.; Plomp, A.S.; Vanhoutte, E.K.; Kalsner, L.; Hol, J.A.; Putoux, A.; Lazier, J.; Vasudevan, P.; Ames, E.; O'Shea, J.; Lederer, D.; Fleischer, J.; O'Connor, M.; Pauly, M.; Vasileiou, G.; Reis, A.; Kiraly-Borri, C.; Barnett, C.; Nezarati, M.; Borch, L.; Beunders, G.; Özcan, K.; Miot, S.; Volker-Touw, C.M.L.; Gassen, K.L.I. van; Cappuccio, G.; Janssens, K.; Mor, N.; Shomer, I.; Dominissini, D.; Tedder, M.L.; Muir, A.M.; Sadikovic, B.; Brunner, H.G.; Vissers, L.E.L.M.; Shinkai, Y.; Kleefstra, T.

Werren EA; The Jackson Laboratory for Genomic Medicine, Farmington, Connecticut, USA.; Kalsner L; Department of Pediatrics, University of Connecticut School of Medicine, Farmington, Connecticut, USA.; Division of Genetics, Connecticut Children's Medical Center, Hartford, Connecticut, USA.; Division of Neurology, Connecticut Children's Medical Center, Hartford, Connecticut, USA.; Ewald JM; The Jackson Laboratory for Genomic Medicine, Farmington, Connecticut, USA.; Peracchio M; Division of Genetics, Connecticut Children's Medical Center, Hartford, Connecticut, USA.; King C; Department of Research, Connecticut Children's Medical Center, Hartford, Connecticut, USA.; Vats P; The Jackson Laboratory for Genomic Medicine, Farmington, Connecticut, USA.; Audano PA; The Jackson Laboratory for Genomic Medicine, Farmington, Connecticut, USA.; Robinson PN; The Jackson Laboratory for Genomic Medicine, Farmington, Connecticut, USA.; Adams MD; The Jackson Laboratory for Genomic Medicine, Farmington, Connecticut, USA.; Kelly MA; The Jackson Laboratory for Genomic Medicine, Farmington, Connecticut, USA.; Matson AP; Department of Pediatrics, University of Connecticut School of Medicine, Farmington, Connecticut, USA.; Division of Neonatology, Connecticut Children's Medical Center, Hartford, Connecticut, USA.; Department of Immunology, UConn Health, Farmington, Connecticut, USA.

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

Schnur RE; Cooper Medical School of Rowan University, Camden, New Jersey, USA.; Division of Genetics, Cooper University Healthcare, Camden, New Jersey, USA.; Dvořáček L; Institute of Hematology and Blood Transfusion, Prague, Czech Republic.; Kalsner L; Departments of Neurology and Pediatrics, Genetics Division, University of Connecticut School of Medicine, Connecticut Children's Medical Center, Hartford, Connecticut, USA.; Shapiro FL; Division of Genetics, Cooper University Healthcare, Camden, New Jersey, USA.; Grebeňová D; Institute of Hematology and Blood Transfusion, Prague, Czech Republic.; Yanni D; Division of Neonatology, Cooper University Healthcare, Camden, New Jersey, USA.; Wasserman BN; Division of Neonatology, Cooper University Healthcare, Camden, New Jersey, USA.; Wills Eye Hospital, Sidney Kimmel Medical College at Thomas Jefferson University, Philadelphia, Pennsylvania, USA.; Dyer LM; GeneDx, Gaithersburg, Maryland, USA.; Antonarakis SE; University of Geneva Medical School, Geneva, Switzerland.; Kuželová K; Institute of Hematology and Blood Transfusion, Prague, Czech Republic.

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

Slavotinek, Anne ; van Hagen, Johanna M. ; Kalsner, Louisa ; Pai, Shashidhar ; Davis-Keppen, Laura ; Ohden, Lisa ; Weber, Yvonne G. ; Macke, Erica L. ; Klee, Eric W. ; Morava, Eva ; Gunderson, Lauren ; Person, Richard ; Liu, Shuxi ; Weiss, Marjan

In European Journal of Medical Genetics April 2020 63(4)

Argilli, E. A.; Yang, C. Y.; Le, C. L.; Elashoff, A. E.; Skotko, B.; Pinnell, N.; Mahida, S.; Olson, H.; Amburgey, K.; Dowling, J.; Kalsner, L.; Rajan, D.; Munro, C.; Barnett, C.; Byrne, A.; England, E.; Aref-Eshghi, E.; Mullegama, S.; Morrow, M.; Parks, K.; Bakker, C.; George, E. G.; Sherr, E. S.

ANNALS OF NEUROLOGY; OCT 2025, 98 2p. Supplement: 35

Radio, FC; Ciolfi, A; Levy, MA; Pedace, L; de Boer, E; Stellacci, E; Lo Cicero, S; Dentici, ML; McWalter, K; Sanchez-Lara, PA; Lindstrom, K; Madan-Khetarpal, S; MacKenzie, JJ; Monteleone, B; Sawyer, SL; Monteiro, FP; Macke, EL; Iascone, M; Selicorni, A; Tenconi, R; Amor, DJ; Stals, K; Cabet, S; Steindl, K; Weiss, K; Castle, AMR; Kalsner, L; Sheehan, W; Shinde, DN; Goodloe, D; Bluske, K; Faletra, F; Kurtz-Nelson, EC; Anderlid, BM; Barakat, TS; Faivre, L; Banka, S; Priolo, M; Dallapiccola, B; Vissers, LELM; Sadikovic, B; Tartaglia, M

Radio, FC, Ciolfi, A, Levy, MA, Pedace, L, de Boer, E, Stellacci, E, Lo Cicero, S, Dentici, ML, McWalter, K, Sanchez-Lara, PA, Lindstrom, K, Madan-Khetarpal, S, MacKenzie, JJ, Monteleone, B, Sawyer, SL, Monteiro, FP, Macke, EL, Iascone, M, Selicorni, A, Tenconi, R, Amor, DJ, Stals, K, Cabet, S, Steindl, K, Weiss, K, Castle, AMR, Kalsner, L, Sheehan, W, Shinde, DN, Goodloe, D, Bluske, K, Faletra, F, Kurtz-Nelson, EC, Anderlid, BM, Barakat, TS, Faivre, L, Banka, S, Priolo, M, Dallapiccola, B, Vissers, LELM, Sadikovic, B & Tartaglia, M 2022, 'SPEN haploinsufficiency causes a neurodevelopmental disorder overlapping proximal 1p36 deletion syndrome with an episignature of X chromosomes in females', European Journal of Human Genetics, vol. 30, no. SUPPL 1, pp. 25-26.

Argilli E; Yang C; Le C; Elashoff AM; Parks KC; Bakker C; Skotko BG; Pinnell N; Mahida S; Olson H; Amburgey K; Dowling JJ; Kalsner L; Rajan DS; Munro C; Barnett C; Byrne AB; England EM; Aref-Eshghi E; Mullegama SV; Morrow MM; George E; Sherr EH

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

Kennedy, C.H.; Huedo-Medina, T.B.; Areny-Joval, R.; Eigsti, I.-M.; Kalsner, L.; Twachtman-Bassett, J.

In: Advances in Neurodevelopmental Disorders. (Advances in Neurodevelopmental Disorders, March 2025, 9(1):64-70)

Graf WD; Department of Pediatrics, Division of Neurology, Connecticut Children's, University of Connecticut, Farmington, CT, USA.; Cohen BH; NeuroDevelopmental Science Center, Akron Children's Hospital, Akron, OH, USA.; Kalsner L; Department of Pediatrics, Division of Neurology, Connecticut Children's, University of Connecticut, Farmington, CT, USA.; Pearl PL; Boston Children's Hospital and Harvard Medical School, Boston, MA, USA.; Sarnat HB; Departments of Paediatrics, Pathology (Neuropathology), and Clinical Neurosciences, University of Calgary Cumming School of Medicine and Alberta Children's Hospital Research Institute, Calgary, Alberta, Canada.; Epstein LG; Department of Pediatrics, Northwestern University's Feinberg School of Medicine, Chicago, IL, USA.; The Ann & Robert H. Lurie Children's Hospital of Chicago, Pediatrics and Neurology, Chicago, IL, USA.

Publisher: Blackwell Country of Publication: England NLM ID: 0006761 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1469-8749 (Electronic) Linking ISSN: 00121622 NLM ISO Abbreviation: Dev Med Child Neurol Subsets: MEDLINE

Zarate, Y.A.; Kalsner, L.; Basinger, A.; Jones, J.R.; Li, C.; Szybowska, M.; Xu, Z.L.; Vergano, S.; Caffrey, A.R.; Gonzalez, C.V.; Dubbs, H.; Zackai, E.; Millan, F.; Telegrafi, A.; Baskin, B.; Person, R.; Fish, J.L.; Everman, D.B.

Clinical Genetics. Oct 01, 2017 92(4):423-429

Marbach F; Institute of Human Genetics, Heidelberg University, Heidelberg, Germany.; Lipska-Ziętkiewicz BS; Centre for Rare Diseases, Clinical Genetics Unit, Department of Biology and Genetics, Medical University of Gdańsk, Gdańsk, Poland.; Knurowska A; Department of Radiology, Medical University of Gdańsk, Gdańsk, Poland.; Michaud V; University of Bordeaux, MRGM INSERM U1211, CHU de Bordeaux, Service de Génétique Médicale, Bordeaux, France.; Margot H; University of Bordeaux, MRGM INSERM U1211, CHU de Bordeaux, Service de Génétique Médicale, Bordeaux, France.; Lespinasse J; CH-Chambéry, Génétique Chromosomique, Chambéry, France.; Tran Mau Them F; Unité Fonctionnelle Innovation en Diagnostic Génomique des maladies rares, CHU Dijon Bourgogne, Dijon, France.; INSERM UMR1231 Génétique des Anomalies du Développement GAD, Dijon, France.; Coubes C; Service de Génétique Clinique, Département de Génétique Médicale, Maladies Rares et Médecine Personnalisée, CHU de Montpellier, Montpellier, France.; Park J; Institute of Medical Genetics and Applied Genomics, University of Tübingen, Tübingen, Germany.; Grosch S; Institute of Medical Genetics and Applied Genomics, University of Tübingen, Tübingen, Germany.; Roggia C; Institute of Medical Genetics and Applied Genomics, University of Tübingen, Tübingen, Germany.; Grasshoff U; Institute of Medical Genetics and Applied Genomics, University of Tübingen, Tübingen, Germany.; Kalsner L; Departments of Neurology and Pediatrics, Connecticut Children's Medical Center and University of Connecticut School of Medicine, Farmington, Connecticut, USA.; Denommé-Pichon AS; Unité Fonctionnelle Innovation en Diagnostic Génomique des maladies rares, CHU Dijon Bourgogne, Dijon, France.; INSERM UMR1231 Génétique des Anomalies du Développement GAD, Dijon, France.; Afenjar A; APHP, Sorbonne Université, Centre de Référence Déficiences Intellectuelles de Causes Rares, Département de Génétique et Embryologie Médicale, Hôpital Trousseau, Paris, France.; Héron B; Sorbonne Université, Service de Neuropédiatrie-Pathologie du développement, Hôpital Trousseau AP-HP.SU, FHU I2D2, Paris, France.; Keren B; APHP, Département de Génétique, Groupe Hospitalier Pitié Salpêtrière, Paris, France.; Caro P; Institute of Human Genetics, Heidelberg University, Heidelberg, Germany.; Schaaf CP; Institute of Human Genetics, Heidelberg University, Heidelberg, Germany.; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, USA.

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

Kalsner, Louisa R., MD; Rohr, Frances J., MS, RD; Strauss, Kevin A., MD; Korson, Mark S., MD; Levy, Harvey L., MD

The Journal of Pediatrics. 139(3):421-427

Werren EA; The Jackson Laboratory for Genomic Medicine, Farmington, Connecticut, 06032, USA.; Kalsner L; Connecticut Children's Medical Center, Hartford, CT 06106, USA.; Ewald J; The Jackson Laboratory for Genomic Medicine, Farmington, Connecticut, 06032, USA.; Peracchio M; Connecticut Children's Medical Center, Hartford, CT 06106, USA.; King C; Connecticut Children's Medical Center, Hartford, CT 06106, USA.; Vats P; The Jackson Laboratory for Genomic Medicine, Farmington, Connecticut, 06032, USA.; Audano PA; The Jackson Laboratory for Genomic Medicine, Farmington, Connecticut, 06032, USA.; Robinson PN; The Jackson Laboratory for Genomic Medicine, Farmington, Connecticut, 06032, USA.; Adams MD; The Jackson Laboratory for Genomic Medicine, Farmington, Connecticut, 06032, USA.; Kelly MA; The Jackson Laboratory for Genomic Medicine, Farmington, Connecticut, 06032, USA.; Matson AP; Connecticut Children's Medical Center, Hartford, CT 06106, USA.

Country of Publication: United States NLM ID: 101680187 Publication Model: Electronic Cited Medium: Internet ISSN: 2692-8205 (Electronic) Linking ISSN: 26928205 NLM ISO Abbreviation: bioRxiv Subsets: PubMed not MEDLINE

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

Brooks, B P; Kleta, R; Stuart, C; Tuchman, M; Jeong, A; Stergiopoulos, S G; Bei, T; Bjornson, B; Russell, L; Chanoine, J-P; Tsagarakis, S; Kalsner, L R; Stratakis, C A

Clinical Genetics. Sep 01, 2005 68(3):215-221

Hiatt, Susan M. ; Thompson, Michelle L. ; Prokop, Jeremy W. ; Lawlor, James M.J. ; Gray, David E. ; Bebin, E. Martina ; Rinne, Tuula ; Kempers, Marlies ; Pfundt, Rolph ; van Bon, Bregje W. ; Mignot, Cyril ; Nava, Caroline ; Depienne, Christel ; Kalsner, Louisa ; Rauch, Anita ; Joset, Pascal ; Bachmann-Gagescu, Ruxandra ; Wentzensen, Ingrid M. ; McWalter, Kirsty ; Cooper, Gregory M.

In The American Journal of Human Genetics 4 April 2019 104(4):701-708

Zarate YA; Section of Genetics and Metabolism, University of Arkansas for Medical Sciences, Little Rock, Arkansas.; Smith-Hicks CL; Division of Neurogenetics, Department of Neurology, Kennedy Krieger Institute and Johns Hopkins University School of Medicine, Baltimore, Maryland.; Greene C; Department of Pediatrics, University of Maryland Baltimore, Baltimore, Maryland.; Abbott MA; Department of Pediatrics, Baystate Medical Center, Springfield, Massachusetts.; Siu VM; Division of Medical Genetics, Department of Pediatrics, University of Western Ontario, London, Ontario, Canada.; Calhoun ARUL; Division of Medical Genetics, Department of Pediatrics, University of Iowa, Iowa City, Iowa.; Pandya A; Department of Pediatrics, Division of Genetics and Metabolism, University of North Carolina at Chapel Hill, Chapel Hill, North Carolina.; Li C; Clinical Genetics Program, McMaster University Medical Center, Hamilton, Ontario, Canada.; Sellars EA; Section of Genetics and Metabolism, University of Arkansas for Medical Sciences, Little Rock, Arkansas.; Kaylor J; InformedDNA, St. Petersburg, Florida.; Bosanko K; Section of Genetics and Metabolism, University of Arkansas for Medical Sciences, Little Rock, Arkansas.; Kalsner L; Departments of Neurology and Pediatrics, Connecticut Children's Medical Center and University of Connecticut Health Center, Farmington, Connecticut.; Basinger A; Cook Children's Physician Network, Fort Worth, Texas.; Slavotinek AM; Division of Genetics, Department of Pediatrics, University of California San Francisco, San Francisco, California.; Perry H; Division of Genetics, Department of Pediatrics, University of California San Francisco, San Francisco, California.; Saenz M; Children's Hospital Colorado, Aurora, Colorado.; Szybowska M; Clinical Genetics Program, McMaster University Medical Center, Hamilton, Ontario, Canada.; Wilson LC; Department of Genetics, Great Ormond Street for Children NHS Foundation Trust, London, UK.; Kumar A; Department of Genetics, Great Ormond Street for Children NHS Foundation Trust, London, UK.; Brain C; Department of Endocrinology, Great Ormond Street for Children NHS Foundation Trust, London, UK.; Balasubramanian M; Sheffield Clinical Genetics Service, Sheffield Children's NHS Foundation Trust, Sheffield, UK.; Dubbs H; Children's Hospital of Philadelphia, Philadelphia, Pennsylvania.; Ortiz-Gonzalez XR; Children's Hospital of Philadelphia, Philadelphia, Pennsylvania.; Zackai E; Children's Hospital of Philadelphia, Philadelphia, Pennsylvania.; Stein Q; Divisions of Pediatric Neurology and Genetics, Sanford Children's Specialty Clinic, Sanford Children's Hospital, Sioux Falls, South Dakota.; Powell CM; Department of Pediatrics, Division of Genetics and Metabolism, University of North Carolina at Chapel Hill, Chapel Hill, North Carolina.; Schrier Vergano S; Division of Medical Genetics and Metabolism, Children's Hospital of The King's Daughters, Norfolk, Virginia.; Britt A; Division of Medical Genetics, Department of Pediatrics, University of Texas Medical Branch, Galveston, Texas.; Sun A; Division of Genetic Medicine, Department of Pediatrics, University of Washington, Seattle, Washington.; Seattle Children's Hospital, Seattle, Washington.; Smith W; Department of Pediatrics, The Barbara Bush Children's Hospital, Maine Medical Center, Portland, Maine.; Bebin EM; Department of Neurology, University of Alabama at Birmingham, Birmingham, Alabama.; Picker J; Boston Children's Hospital, Boston, Massachusetts.; Kirby A; Division of Medical Genetics, SSM Health Cardinal Glennon Children's Hospital, Saint Louis, Missouri.; Pinz H; Division of Medical Genetics, SSM Health Cardinal Glennon Children's Hospital, Saint Louis, Missouri.; Bombei H; Division of Medical Genetics, Department of Pediatrics, University of Iowa, Iowa City, Iowa.; Mahida S; Division of Neurogenetics, Department of Neurology, Kennedy Krieger Institute and Johns Hopkins University School of Medicine, Baltimore, Maryland.; Cohen JS; Division of Neurogenetics, Department of Neurology, Kennedy Krieger Institute and Johns Hopkins University School of Medicine, Baltimore, Maryland.; Fatemi A; Division of Neurogenetics, Department of Neurology, Kennedy Krieger Institute and Johns Hopkins University School of Medicine, Baltimore, Maryland.; Vernon HJ; Division of Neurogenetics, Department of Neurology, Kennedy Krieger Institute and Johns Hopkins University School of Medicine, Baltimore, Maryland.; McClellan R; Division of Neurogenetics, Department of Neurology, Kennedy Krieger Institute and Johns Hopkins University School of Medicine, Baltimore, Maryland.; Fleming LR; Clinical Genetics and Genomics, St. Luke's Children's Hospital, Boise, Idaho.; Knyszek B; Clinical Genetics and Genomics, St. Luke's Children's Hospital, Boise, Idaho.; Steinraths M; Department of Medical Genetics, University of British Columbia, Vancouver, British Columbia, Canada.; Velasco Gonzalez C; Biostatistics Program, Department of Pediatrics, University of Arkansas for Medical Sciences, Little Rock, Arkansas.; Beck AE; Division of Genetic Medicine, Department of Pediatrics, University of Washington, Seattle, Washington.; Seattle Children's Hospital, Seattle, Washington.; Golden-Grant KL; Seattle Children's Hospital, Seattle, Washington.; Egense A; Department of Pediatrics, University of Maryland Baltimore, Baltimore, Maryland.; Parikh A; University of Toledo Department of Pediatrics, Toledo, Ohio.; University Hospitals Cleveland Medical Center, Cleveland, Ohio.; Department of Genetics and Genome Sciences Case Western Reserve University School of Medicine, Cleveland, Ohio.; Raimondi C; Advocate Children's Hospital, Park Ridge, Illinois.; Angle B; Advocate Children's Hospital, Park Ridge, Illinois.; Allen W; Fullerton Genetics Center, Asheville, North Carolina.; Schott S; Fullerton Genetics Center, Asheville, North Carolina.; Algrabli A; FDNA, Inc., Boston, Massachusetts.; Robin NH; University of Alabama at Birmingham, Birmingham, Alabama.; Ray JW; Division of Medical Genetics, Department of Pediatrics, University of Texas Medical Branch, Galveston, Texas.; Everman DB; Greenwood Genetic Center, Greenwood, South Carolina.; Gambello MJ; Emory University School of Medicine, Atlanta, Georgia.; Chung WK; Department of Pediatrics and Medicine, Columbia University, New York, New York.

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

Kennedy, C.; Huedo-Medina, T.; Twachtman-Bassett, J.; Kalsner, L.; Areny-Joval, R.; Eigsti, I. -M.

JOURNAL OF INTELLECTUAL DISABILITY RESEARCH; JUL 2024, 68 7, p788-p788, 1p.