부산대학교 도서관

Rots D; Jakub TE; Keung C; Jackson A; Banka S; Pfundt R; de Vries BBA; van Jaarsveld RH; Hopman SMJ; van Binsbergen E; Valenzuela I; Hempel M; Bierhals T; Kortüm F; Lecoquierre F; Goldenberg A; Hertz JM; Andersen CB; Kibæk M; Prijoles EJ; Stevenson RE; Everman DB; Patterson WG; Meng L; Gijavanekar C; De Dios K; Lakhani S; Levy T; Wagner M; Wieczorek D; Benke PJ; Lopez Garcia MS; Perrier R; Sousa SB; Almeida PM; Simões MJ; Isidor B; Deb W; Schmanski AA; Abdul-Rahman O; Philippe C; Bruel AL; Faivre L; Vitobello A; Thauvin C; Smits JJ; Garavelli L; Caraffi SG; Peluso F; Davis-Keppen L; Platt D; Royer E; Leeuwen L; Sinnema M; Stegmann APA; Stumpel CTRM; Tiller GE; Bosch DGM; Potgieter ST; Joss S; Splitt M; Holden S; Prapa M; Foulds N; Douzgou S; Puura K; Waltes R; Chiocchetti AG; Freitag CM; Satterstrom FK; De Rubeis S; Buxbaum J; Gelb BD; Branko A; Kushima I; Howe J; Scherer SW; Arado A; Baldo C; Patat O; Bénédicte D; Lopergolo D; Santorelli FM; Haack TB; Dufke A; Bertrand M; Falb RJ; Rieß A; Krieg P; Spranger S; Bedeschi MF; Iascone M; Josephi-Taylor S; Roscioli T; Buckley MF; Liebelt J; Dagli AI; Aten E; Hurst ACE; Hicks A; Suri M; Aliu E; Naik S; Sidlow R; Coursimault J; Nicolas G; Küpper H; Petit F; Ibrahim V; Top D; Di Cara F; Louie RJ; Stolerman E; Brunner HG; Vissers LELM; Kramer JM; Kleefstra T

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

Cordovado, Amélie; Schaettin, Martina; Jeanne, Médéric; Panasenkava, Veranika; Denommé-Pichon, Anne-Sophie; Keren, Boris; Mignot, Cyril; Doco-Fenzy, Martine; Rodan, Lance; Ramsey, Keri; Narayanan, Vinodh; Jones, Julie R; Prijoles, Eloise J; Mitchell, Wendy G; Ozmore, Jillian R; Juliette, Kali; Torti, Erin; Normand, Elizabeth A; Granger, Leslie; Petersen, Andrea K

Human Molecular Genetics; Oct2022, Vol. 31 Issue 19, p3325-3340, 16p

Hiatt, Susan M; Trajkova, Slavica; Sebastiano, Matteo Rossi; Partridge, E Christopher; Abidi, Fatima E; Anderson, Ashlyn; Ansar, Muhammad; Antonarakis, Stylianos E; Azadi, Azadeh; Bachmann-Gagescu, Ruxandra; Bartuli, Andrea; Benech, Caroline; Berkowitz, Jennifer L; Betti, Michael J; Brusco, Alfredo; Cannon, Ashley; Caron, Giulia; Chen, Yanmin; Cochran, Meagan E; Coleman, Tanner F; Crenshaw, Molly M; Cuisset, Laurence; Curry, Cynthia J; Darvish, Hossein; Demirdas, Serwet; Descartes, Maria; Douglas, Jessica; Dyment, David A; Elloumi, Houda Zghal; Ermondi, Giuseppe; Faoucher, Marie; Farrow, Emily G; Felker, Stephanie A; Fisher, Heather; Hurst, Anna C E; Joset, Pascal; Kelly, Melissa A; Kmoch, Stanislav; Leadem, Benjamin R; Lyons, Michael J; Macchiaiolo, Marina; Magner, Martin; Mandrile, Giorgia; Mattioli, Francesca; McEown, Megan; Meadows, Sarah K; Medne, Livija; Meeks, Naomi J L; Montgomery, Sarah; Napier, Melanie P; Natowicz, Marvin; Newberry, Kimberly M; Niceta, Marcello; Noskova, Lenka; Nowak, Catherine B; Noyes, Amanda G; Osmond, Matthew; Prijoles, Eloise J; Pugh, Jada; Pullano, Verdiana; Quélin, Chloé; Rahimi-Aliabadi, Simin; Rauch, Anita; Redon, Sylvia; Reymond, Alexandre; Schwager, Caitlin R; Sellars, Elizabeth A; Scheuerle, Angela E; Shukarova-Angelovska, Elena; Skraban, Cara; Stolerman, Elliot; Sullivan, Bonnie R; Tartaglia, Marco; Thiffault, Isabelle; Uguen, Kevin; Umaña, Luis A; van Bever, Yolande; van der Crabben, Saskia N; van Slegtenhorst, Marjon A; Waisfisz, Quinten; Washington, Camerun; Rodan, Lance H; Myers, Richard M; Cooper, Gregory M

Hiatt, S M, Trajkova, S, Sebastiano, M R, Partridge, E C, Abidi, F E, Anderson, A, Ansar, M, Antonarakis, S E, Azadi, A, Bachmann-Gagescu, R, Bartuli, A, Benech, C, Berkowitz, J L, Betti, M J, Brusco, A, Cannon, A, Caron, G, Chen, Y, Cochran, M E, Coleman, T F, Crenshaw, M M, Cuisset, L, Curry, C J, Darvish, H, Demirdas, S, Descartes, M, Douglas, J, Dyment, D A, Elloumi, H Z, Ermondi, G, Faoucher, M, Farrow, E G, Felker, S A, Fisher, H, Hurst, A C E, Joset, P, Kelly, M A, Kmoch, S, Leadem, B R, Lyons, M J, Macchiaiolo, M, Magner, M, Mandrile, G, Mattioli, F, McEown, M, Meadows, S K, Medne, L, Meeks, N J L, Montgomery, S, Napier, M P, Natowicz, M, Newberry, K M, Niceta, M, Noskova, L, Nowak, C B, Noyes, A G, Osmond, M, Prijoles, E J, Pugh, J, Pullano, V, Quélin, C, Rahimi-Aliabadi, S, Rauch, A, Redon, S, Reymond, A, Schwager, C R, Sellars, E A, Scheuerle, A E, Shukarova-Angelovska, E, Skraban, C, Stolerman, E, Sullivan, B R, Tartaglia, M, Thiffault, I, Uguen, K, Umaña, L A, van Bever, Y, van der Crabben, S N, van Slegtenhorst, M A, Waisfisz, Q, Washington, C, Rodan, L H, Myers, R M & Cooper, G M 2023, 'Deleterious, protein-altering variants in the transcriptional coregulator ZMYM3 in 27 individuals with a neurodevelopmental delay phenotype', American journal of human genetics, vol. 110, no. 2, pp. 215-227. https://doi.org/10.1016/j.ajhg.2022.12.007

Wojcik MH; Division of Newborn Medicine, Department of Pediatrics and Harvard Medical School, Boston Children's Hospital, Boston, Massachusetts, USA.; Division of Genetics and Genomics, Department of Pediatrics and Harvard Medical School, Boston Children's Hospital, Boston, Massachusetts, USA.; Manton Center for Orphan Disease Research, Boston Children's Hospital, Boston, Massachusetts, USA.; Srivastava S; Department of Neurology, Boston Children's Hospital, Harvard Medical School, Boston, Massachusetts, USA.; Agrawal PB; Manton Center for Orphan Disease Research, Boston Children's Hospital, Boston, Massachusetts, USA.; Division of Neonatology, Department of Pediatrics, Miller School of Medicine, University of Miami and Holtz Children's Hospital, Jackson Health System, Miami, Florida, USA.; Balci TB; Medical Genetics Program of Southwestern Ontario, London Health Sciences Centre, London, Ontario, Canada.; Callewaert B; Center for Medical Genetics, Pediatrics Department, Ghent University Hospital, Ghent, Belgium.; Calvo PL; Pediatric Gastroenterology Unit, Regina Margherita Children's Hospital, Azienda Ospedaliera-Universitaria Città della Salute e della Scienza, Turin, Italy.; Carli D; Department of Public Health and Pediatrics, University of Torino, Torino, Italy.; Caudle M; Medical Genetics Program of Southwestern Ontario, London Health Sciences Centre, London, Ontario, Canada.; Colaiacovo S; Medical Genetics Program of Southwestern Ontario, London Health Sciences Centre, London, Ontario, Canada.; Cross L; Clinical Genetics, Children's Mercy Hospital, Kansas City, Missouri, USA.; Demetriou K; Centre for Clinical Genetics, Sydney Children's Hospital, Sydney, New South Wales, Australia.; Drazba K; Greenwood Genetic Center, Greenwood, South Carolina, USA.; Dutra-Clarke M; Division of Genetics, Department of Pediatrics, David Geffen School of Medicine, University of California at Los Angeles, Los Angeles, California, USA.; Edwards M; Paediatrics, School of Medicine, Western Sydney University, Hunter Genetics, Newcastle, New South Wales, Australia.; Genetti CA; Division of Genetics and Genomics, Department of Pediatrics and Harvard Medical School, Boston Children's Hospital, Boston, Massachusetts, USA.; Manton Center for Orphan Disease Research, Boston Children's Hospital, Boston, Massachusetts, USA.; Grange DK; Division of Genetics and Genomic Medicine, Department of Pediatrics, Washington University School of Medicine, St Louis, Missouri, USA.; Hickey SE; Department of Pediatrics, The Ohio State University College of Medicine, Division of Genetic & Genomic Medicine, Nationwide Children's Hospital, Columbus, Ohio, USA.; Isidor B; Department of Medical Genetics, Nantes Hospital, Nantes, France.; Küry S; Nantes Université, CHU Nantes, Service de Génétique Médicale, Nantes, France; Nantes Université, CHU Nantes, CNRS, INSERM, L'institut du thorax, Nantes, France.; Lachman HM; Departments of Behavioral Science, Medicine, and Psychiatry, Albert Einstein College of Medicine, Bronx, New York, USA.; Lavillaureix A; Service de Génétique Clinique, Centre de Référence Maladies Rares CLAD-Ouest, ERN ITHACA, CHU Rennes, Hôpital Sud, Rennes, France.; Lyons MJ; Greenwood Genetic Center, Greenwood, South Carolina, USA.; Marcelis C; Department of Human Genetics, Donders Centre for Neuroscience, Radboud University Medical Center, Nijmegen, The Netherlands.; Marco EJ; Cortica Healthcare, Marin Center, San Rafael, California, USA.; Martinez-Agosto JA; Division of Genetics, Departments of Pediatrics and Human Genetics, David Geffen School of Medicine, University of California at Los Angeles, Los Angeles, California, USA.; Nowak C; Division of Genetics and Genomics, Department of Pediatrics and Harvard Medical School, Boston Children's Hospital, Boston, Massachusetts, USA.; Pizzol A; Pediatric Gastroenterology Unit, Regina Margherita Children's Hospital, Azienda Ospedaliera-Universitaria Città della Salute e della Scienza, Turin, Italy.; Planes M; Service de Génétique Clinique, University Hospital Morvan, Brest, France.; Prijoles EJ; Greenwood Genetic Center, Greenwood, South Carolina, USA.; Riberi E; Department of Public Health and Pediatrics, University of Torino, Torino, Italy.; Rush ET; UKMC School of Medicine, University of Missouri Kansas City, Kansas City, Missouri, USA.; Division of Genetics, Children's Mercy Kansas City, Kansas City, Missouri, USA.; Department of Internal Medicine, University of Kansas School of Medicine, Kansas City, Missouri, USA.; Russell BE; Division of Genetics, Departments of Pediatrics and Human Genetics, David Geffen School of Medicine, University of California at Los Angeles, Los Angeles, California, USA.; Sachdev R; Centre for Clinical Genetics, Sydney Children's Hospital, Sydney, New South Wales, Australia.; School of Women's and Children's Health, University of New South Wales, Sydney, New South Wales, Australia.; Schmalz B; Department of Pediatrics, The Ohio State University College of Medicine, Division of Genetic & Genomic Medicine, Nationwide Children's Hospital, Columbus, Ohio, USA.; Shears D; Oxford Centre for Genomic Medicine, Oxford University Hospitals NHS Foundation Trust, Oxford, UK.; Stevenson DA; Division of Medical Genetics, Department of Pediatrics, Stanford University, Stanford, California, USA.; Wilson K; Oxford Centre for Genomic Medicine, Oxford University Hospitals NHS Foundation Trust, Oxford, UK.; Jansen S; Donders Centre for Neuroscience, Radboud University Medical Center, Nijmegen, The Netherlands.; de Vries BBA; Donders Centre for Neuroscience, Radboud University Medical Center, Nijmegen, The Netherlands.; Curry CJ; Genetic Medicine, Department of Pediatrics, University of California San Francisco/Fresno, Fresno, California, 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

Eekhoff, Lauren; Edwards, Janice; Martin, Ann; Prijoles, Eloise J

Journal of Genetic Counseling; Oct2019, Vol. 28 Issue 5, p993-1002, 10p

Kruszka, Paul; Berger, Seth I; Casa, Valentina; Dekker, Mike R; Gaesser, Jenna; Weiss, Karin; Martinez, Ariel F; Murdock, David R; Louie, Raymond J; Prijoles, Eloise J; Lichty, Angie W; Brouwer, Oebele F; Zonneveld-Huijssoon, Evelien; Stephan, Mark J; Hogue, Jacob; Hu, Ping; Tanima-Nagai, Momoko; Everson, Joshua L; Prasad, Chitra; Cereda, Anna

Brain: A Journal of Neurology. Sep2019, Vol. 142 Issue 9, p2631-2643. 13p.

Dingemans AJM; Department of Human Genetics, Donders Institute for Brain, Cognition and Behaviour, Radboud University Medical Center, P.O. Box 9101, 6500 HB, Nijmegen, the Netherlands.; Truijen KMG; Department of Human Genetics, Donders Institute for Brain, Cognition and Behaviour, Radboud University Medical Center, P.O. Box 9101, 6500 HB, Nijmegen, the Netherlands.; van de Ven S; Department of Human Genetics, Donders Institute for Brain, Cognition and Behaviour, Radboud University Medical Center, P.O. Box 9101, 6500 HB, Nijmegen, the Netherlands.; Bernier R; Department of Psychiatry and Behavioral Sciences, University of Washington, Seattle, WA, USA.; Bongers EMHF; Department of Human Genetics, Donders Institute for Brain, Cognition and Behaviour, Radboud University Medical Center, P.O. Box 9101, 6500 HB, Nijmegen, the Netherlands.; Bouman A; Department of Clinical Genetics, Erasmus MC, University Medical Center Rotterdam, Rotterdam, The Netherlands.; de Graaff-Herder L; Department of Clinical Genetics, Erasmus MC, University Medical Center Rotterdam, Rotterdam, The Netherlands.; Eichler EE; Department of Genome Sciences, University of Washington, Seattle, WA, USA.; Howard Hughes Medical Institute, University of Washington, Seattle, WA, USA.; Gerkes EH; Department of Genetics, University of Groningen, University Medical Center Groningen, Groningen, The Netherlands.; De Geus CM; Department of Genetics, University of Groningen, University Medical Center Groningen, Groningen, The Netherlands.; van Hagen JM; Department of Human Genetics, Amsterdam UMC location Vrije Universiteit Amsterdam, Boelelaan 1117, Amsterdam, The Netherlands.; Jansen PR; Department of Human Genetics, Amsterdam UMC location Vrije Universiteit Amsterdam, Boelelaan 1117, Amsterdam, The Netherlands.; Department of Complex Trait Genetics, Center for Neurogenomics and Cognitive Research, VU University, Amsterdam, the Netherlands.; Kerkhof J; 1Verspeeten Clinical Genome Centre, London Health Sciences Centre, London, ON, N6A 5W9, Canada.; Kievit AJA; Department of Clinical Genetics, Erasmus MC, University Medical Center Rotterdam, Rotterdam, The Netherlands.; Kleefstra T; Department of Human Genetics, Donders Institute for Brain, Cognition and Behaviour, Radboud University Medical Center, P.O. Box 9101, 6500 HB, Nijmegen, the Netherlands.; Maas SM; Department of Clinical Genetics, Amsterdam UMC, University of Amsterdam, Amsterdam, the Netherlands.; de Man SA; Department of Pediatrics, Amphia Hospital, Breda, The Netherlands.; McConkey H; 1Verspeeten Clinical Genome Centre, London Health Sciences Centre, London, ON, N6A 5W9, Canada.; Patterson WG; Greenwood Genetic Center, Greenwood, SC, 29646, USA.; Dobson AT; Greenwood Genetic Center, Greenwood, SC, 29646, USA.; Prijoles EJ; Greenwood Genetic Center, Greenwood, SC, 29646, USA.; Sadikovic B; 1Verspeeten Clinical Genome Centre, London Health Sciences Centre, London, ON, N6A 5W9, Canada.; Department of Pathology and Laboratory Medicine, Western University, London, ON, N6A3K7, Canada.; Relator R; 1Verspeeten Clinical Genome Centre, London Health Sciences Centre, London, ON, N6A 5W9, Canada.; Department of Pathology and Laboratory Medicine, Western University, London, ON, N6A3K7, Canada.; Stevenson RE; Greenwood Genetic Center, Greenwood, SC, 29646, USA.; Stumpel CTRM; Department of Clinical Genetics, MUMC, Maastricht, The Netherlands.; GROW-School for Oncology and Reproduction, Maastricht University, Maastricht, Netherlands.; Heijligers M; Department of Clinical Genetics, MUMC, Maastricht, The Netherlands.; Stuurman KE; Department of Clinical Genetics, Erasmus MC, University Medical Center Rotterdam, Rotterdam, The Netherlands.; Löhner K; Department of Genetics, University of Groningen, University Medical Center Groningen, Groningen, The Netherlands.; Zeidler S; Department of Clinical Genetics, Erasmus MC, University Medical Center Rotterdam, Rotterdam, The Netherlands.; Lee JA; Greenwood Genetic Center, Greenwood, SC, 29646, USA.; Lindy A; GeneDx, 207 Perry Parkway, Gaithersburg, MD, 20877, USA.; Zou F; GeneDx, 207 Perry Parkway, Gaithersburg, MD, 20877, USA.; Tedder ML; Greenwood Genetic Center, Greenwood, SC, 29646, USA.; Vissers LELM; Department of Human Genetics, Donders Institute for Brain, Cognition and Behaviour, Radboud University Medical Center, P.O. Box 9101, 6500 HB, Nijmegen, the Netherlands.; de Vries BBA; Department of Human Genetics, Donders Institute for Brain, Cognition and Behaviour, Radboud University Medical Center, P.O. Box 9101, 6500 HB, Nijmegen, the Netherlands. Bert.deVries@radboudumc.nl.

Publisher: Nature Pub. Group Country of Publication: United States NLM ID: 101562664 Publication Model: Electronic Cited Medium: Internet ISSN: 2158-3188 (Electronic) Linking ISSN: 21583188 NLM ISO Abbreviation: Transl Psychiatry Subsets: MEDLINE

Bosch E; Institute of Human Genetics, Universitätsklinikum Erlangen, Friedrich-Alexander-Universität Erlangen-Nürnberg, Erlangen, Germany.; Popp B; Berlin Institute of Health at Charitè, Universitätsklinikum Berlin, Centre of Functional Genomics, Berlin, Germany; Institute of Human Genetics, University of Leipzig Medical Center, Leipzig, Germany.; Güse E; Institute of Human Genetics, Universitätsklinikum Erlangen, Friedrich-Alexander-Universität Erlangen-Nürnberg, Erlangen, Germany.; Skinner C; Greenwood Genetic Center, Greenwood, SC.; van der Sluijs PJ; Department of Clinical Genetics, Leiden University Medical Center, Leiden, The Netherlands.; Maystadt I; Center for Human Genetics, Institute of Pathology and Genetics, Gosselies, Belgium.; Pinto AM; Genetica Medica, Azienda Ospedaliera Universitaria Senese, Siena, Italy.; Renieri A; Genetica Medica, Azienda Ospedaliera Universitaria Senese, Siena, Italy; Medical Genetics Unit, University of Siena, Siena, Italy.; Bruno LP; Telethon Institute of Genetics and Medicine (TIGEM), Naples, Italy.; Granata S; Genetica Medica, Azienda Ospedaliera Universitaria Senese, Siena, Italy; Medical Genetics Unit, University of Siena, Siena, Italy.; Marcelis C; Human Genetics department, Radboud university medical center, Nijmegen, The Netherlands.; Baysal Ö; Human Genetics department, Radboud university medical center, Nijmegen, The Netherlands.; Hartwich D; Institute of Human Genetics - University Medical Center of the Johannes Gutenberg University Mainz, Germany.; Holthöfer L; Institute of Human Genetics - University Medical Center of the Johannes Gutenberg University Mainz, Germany.; Isidor B; Nantes Université, CHU de Nantes, Service de Génétique médicale, Nantes, France; Nantes Université, CHU de Nantes, CNRS, INSERM, l'institut du thorax, Nantes, France.; Cogne B; Nantes Université, CHU de Nantes, Service de Génétique médicale, Nantes, France; Nantes Université, CHU de Nantes, CNRS, INSERM, l'institut du thorax, Nantes, France.; Wieczorek D; Institute of Human Genetics, Medical Faculty and University Hospital Düsseldorf, Heinrich-Heine-University Düsseldorf, Düsseldorf, Germany.; Capra V; Genomics and Clinical Genetics Unit, IRCCS Istituto Giannina Gaslini, Genoa, Italy.; Scala M; Department of Neurosciences, Rehabilitation, Ophthalmology, Genetics, Maternal and Child Health, University of Genoa, Genoa, Italy; Medical Genetics Unit, IRCCS Istituto Giannina Gaslini, Genoa, Italy.; De Marco P; Medical Genetics Unit, IRCCS Istituto Giannina Gaslini, Genoa, Italy.; Ognibene M; Medical Genetics Unit, IRCCS Istituto Giannina Gaslini, Genoa, Italy.; Jamra RA; Institute of Human Genetics, University of Leipzig Medical Center, Leipzig, Germany.; Platzer K; Institute of Human Genetics, University of Leipzig Medical Center, Leipzig, Germany.; Carter LB; Department of Pediatrics, Division of Medical Genetics, Levine Children's Hospital, Atrium Health, Charlotte, NC.; Kuismin O; Department of Clinical Genetics, Research Unit of Clinical Medicine, Medical Research Center Oulu, Oulu University Hospital and University of Oulu, Oulu, Finland.; van Haeringen A; Department of Clinical Genetics, Leiden University Medical Center, Leiden, The Netherlands.; Maroofian R; Department of Neuromuscular Diseases, UCL Queen Square Institute of Neurology, University College London, London, United Kingdom.; Valenzuela I; Department of Clinical and Molecular Genetics, University Hospital Vall d'Hebron, Barcelona, Spain; Medicine Genetics Group, Valle Hebron Research Institute, Barcelona, Spain.; Cuscó I; Department of Clinical and Molecular Genetics, University Hospital Vall d'Hebron, Barcelona, Spain; Medicine Genetics Group, Valle Hebron Research Institute, Barcelona, Spain.; Martinez-Agosto JA; Departments of Human Genetics, Pediatrics, and Psychiatry, UCLA David Geffen School of Medicine, Los Angeles, CA.; Rabani AM; Department of Pediatrics & Institute for Precision Health, UCLA David Geffen School of Medicine, Los Angeles, CA.; Mefford HC; Center for Pediatric Neurological Disease Research, St. Jude Children's Research Hospital, Memphis, TN.; Pereira EM; Division of Clinical Genetics, Department of Pediatrics, Columbia University Irving Medical Center, New York, NY.; Close C; Division of Clinical Genetics, Department of Pediatrics, Columbia University Irving Medical Center, New York, NY.; Anyane-Yeboa K; Division of Clinical Genetics, Department of Pediatrics, Columbia University Irving Medical Center, New York, NY.; Wagner M; Division of Pediatric Genetics, Metabolism, and Genomic Medicine, Department of Pediatrics, University of Michigan Health System, University of Michigan, Ann Arbor, MI.; Hannibal MC; Division of Pediatric Genetics, Metabolism, and Genomic Medicine, Department of Pediatrics, University of Michigan Health System, University of Michigan, Ann Arbor, MI.; Zacher P; Epilepsy Center Kleinwachau, Radeberg, Germany.; Thiffault I; Department of Pediatrics and Pathology, Genomic Medicine Center, Children's Mercy Kansas City and Children's Mercy Research Institute, Kansas City, MO.; Beunders G; Department of Genetics, University Medical Center Groningen, Groningen, The Netherlands.; Umair M; Medical Genomics Research Department, King Abdullah International Medical Research Center (KAIMRC), King Saud Bin Abdulaziz University for Health Sciences, King Abdulaziz Medical City, MNGHA, Riyadh, Saudi Arabia; Department of Life Sciences, School of Science, University of Management and Technology (UMT), Lahore, Pakistan.; Bhola PT; Department of Genetics, Children's Hospital of Eastern Ontario (CHEO), Ottawa, Canada.; McGinnis E; Division of Neurology, Department of Pediatrics, Ann & Robert H. Lurie Children's Hospital of Chicago, Chicago, IL.; Millichap J; Department of Neurology, Northwestern University Feinberg School of Medicine, Chicago, IL.; van de Kamp JM; Department of Human Genetics, Amsterdam UMC, location VU Medical Center, Amsterdam, The Netherlands.; Prijoles EJ; Greenwood Genetic Center, Greenwood, SC.; Dobson A; Greenwood Genetic Center, Greenwood, SC.; Shillington A; Department of Human Genetics, Cincinnati Children's Hospital Medical Center, Cincinnati, OH.; Graham BH; Department of Medical and Molecular Genetics, Indiana University School of Medicine, Indianapolis, IN.; Garcia EJ; Department of Medical and Molecular Genetics, Indiana University School of Medicine, Indianapolis, IN.; Galindo MK; Department of Pediatrics, University of Arizona, Tucson, AZ.; Ropers FG; Willem-Alexander Children's Hospital, Department of Pediatrics, Leiden University Medical Center, The Netherlands.; Nibbeling EAR; Department of Clinical Genetics, Leiden University Medical Center, Leiden, The Netherlands.; Hubbard G; Department of Medical Genetics, Children's Hospital Los Angeles, Keck School of Medicine of University of Southern California, Los Angeles, CA.; Karimov C; Department of Medical Genetics, Children's Hospital Los Angeles, Keck School of Medicine of University of Southern California, Los Angeles, CA.; Goj G; Vestische Kinder- und Jugendklinik, Datteln, Germany.; Bend R; PreventionGenetics, Part of Exact Sciences, Marshfield, WI.; Rath J; PreventionGenetics, Part of Exact Sciences, Marshfield, WI.; Morrow MM; GeneDx, Gaithersburg, MD.; Millan F; GeneDx, Gaithersburg, MD.; Salpietro V; Department of Neuromuscular Disorders, Queen Square Institute of Neurology, University College London, London, United Kingdom; Department of Biotechnological and Applied Clinical Sciences, University of L'Aquila, L'Aquila, Italy.; Torella A; Telethon Institute of Genetics and Medicine (TIGEM), Naples, Italy; Department of Precision Medicine, University of Campania 'Luigi Vanvitelli,' Naples, Italy.; Nigro V; Telethon Institute of Genetics and Medicine (TIGEM), Naples, Italy; Department of Precision Medicine, University of Campania 'Luigi Vanvitelli,' Naples, Italy.; Kurki M; Institute for Molecular Medicine Finland (FIMM), Helsinki Institute of Life Science (HiLIFE), University of Helsinki, Helsinki, Finland; Program in Medical and Population Genetics, Broad Institute of Harvard and MIT, Cambridge, MA.; Stevenson RE; Greenwood Genetic Center, Greenwood, SC.; Santen GWE; Department of Clinical Genetics, Leiden University Medical Center, Leiden, The Netherlands.; Zweier M; Institute of Medical Genetics, University of Zürich, Schlieren-Zurich, Switzerland.; Campeau PM; Department of Pediatrics, CHU Sainte-Justine and University of Montreal, Montreal, QC, Canada.; Severino M; Neuroradiology Unit, IRCCS Istituto Giannina Gaslini, Genoa, Italy.; Reis A; Institute of Human Genetics, Universitätsklinikum Erlangen, Friedrich-Alexander-Universität Erlangen-Nürnberg, Erlangen, Germany; Centre for Rare Diseases Erlangen (ZSEER), Erlangen, Germany.; Accogli A; Department of Specialized Medicine, Division of Medical Genetics, McGill University Health Centre; Department of Human Genetics, Faculty of Medicine, McGill University, Montreal, QC, Canada.; Vasileiou G; Institute of Human Genetics, Universitätsklinikum Erlangen, Friedrich-Alexander-Universität Erlangen-Nürnberg, Erlangen, Germany; Centre for Rare Diseases Erlangen (ZSEER), Erlangen, Germany. Electronic address: georgia.vasileiou@uk-erlangen.de.

Publisher: Elsevier Country of Publication: United States NLM ID: 9815831 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1530-0366 (Electronic) Linking ISSN: 10983600 NLM ISO Abbreviation: Genet Med Subsets: MEDLINE

Tekendo-Ngongang C; Medical Genetics Branch, National Human Genome Research Institute, The National Institutes of Health, Bethesda, Maryland, USA.; Owosela B; Medical Genetics Branch, National Human Genome Research Institute, The National Institutes of Health, Bethesda, Maryland, USA.; Fleischer N; FDNA Inc., Boston, Massachusetts, USA.; Addissie YA; Medical Genetics Branch, National Human Genome Research Institute, The National Institutes of Health, Bethesda, Maryland, USA.; Malonga B; Medical Genetics Branch, National Human Genome Research Institute, The National Institutes of Health, Bethesda, Maryland, USA.; Badoe E; Department of Child Health, School of Medicine and Dentistry, College of Health Sciences, Accra, Ghana.; Gupta N; Division of Genetics, Department of Pediatrics, All India Institute of Medical Sciences, New Delhi, India.; Moresco A; Servicio de Genética, Hospital de Pediatría Garrahan, Buenos Aires, Argentina.; Huckstadt V; Servicio de Genética, Hospital de Pediatría Garrahan, Buenos Aires, Argentina.; Ashaat EA; Clinical Genetics Department, Human Genetics and Genome Research Division, National Research Centre, Cairo, Egypt.; Hussen DF; Cytogenetic Department, Human Genetics and Genome Research Division, National Research Centre, Cairo, Egypt.; Luk HM; Department of Health, Clinical Genetic Service, Hong Kong Special Administrative Region, Hong Kong, China.; Lo IFM; Department of Health, Clinical Genetic Service, Hong Kong Special Administrative Region, Hong Kong, China.; Hon-Yin Chung B; Department of Paediatrics and Adolescent Medicine, LKS Faculty of Medicine, The University of Hong Kong, Hong Kong Special Administrative Region, Hong Kong, China.; Fung JLF; Department of Paediatrics and Adolescent Medicine, LKS Faculty of Medicine, The University of Hong Kong, Hong Kong Special Administrative Region, Hong Kong, China.; Moretti-Ferreira D; Department of Genetics, Institute of Biosciences, Sao Paulo State University-UNESP, Botucatu, São Paulo, Brazil.; Batista LC; Department of Genetics, Institute of Biosciences, Sao Paulo State University-UNESP, Botucatu, São Paulo, Brazil.; Lotz-Esquivel S; Rare and Orphan Disease Multidisciplinary Clinic, Hospital San Juan de Dios (CCSS), San José, Costa Rica.; Saborio-Rocafort M; Medical Genetics and Metabolism Department, National Children's Hospital 'Dr. Carlos Sáenz Herrera' (CCSS), San José, Costa Rica.; Badilla-Porras R; Medical Genetics and Metabolism Department, National Children's Hospital 'Dr. Carlos Sáenz Herrera' (CCSS), San José, Costa Rica.; Penon Portmann M; Medical Genetics and Metabolism Department, National Children's Hospital 'Dr. Carlos Sáenz Herrera' (CCSS), San José, Costa Rica.; Division of Medical Genetics, Department of Pediatrics & Institute for Human Genetics, University of California San Francisco, San Francisco, California, USA.; Jones KL; Division of Medical Genetics and Metabolism, Children's Hospital of The King's Daughters, Norfolk, Virginia, USA.; Abdul-Rahman OA; Munroe-Meyer institute for Genetics and Rehabilitation, University of Nebraska Medical Center, Omaha, Nebraska, USA.; Uwineza A; Centre for Human Genetics, School of Medicine and Pharmacy, College of Medicine and Health Sciences, University of Rwanda, Kigali, Rwanda.; Prijoles EJ; Greenwood Genetic Center, Greenwood, South Carolina, USA.; Ifeorah IK; Nigerian Air Force Hospital, Nigerian Air Force, Abuja, Nigeria.; Llamos Paneque A; Medical Genetics Service, Specialty Hospital of the Armed Forces No. 1, International University of Ecuador, Sciences of Life Faculty, School of Dentistry, Quito, Ecuador.; Sirisena ND; Human Genetics Unit, Faculty of Medicine, University of Colombo, Colombo, Sri Lanka.; Dowsett L; Kapi'olani Medical Center and University of Hawai'i, Honolulu, Hawaii, USA.; Lee S; Kapi'olani Medical Center and University of Hawai'i, Honolulu, Hawaii, USA.; Cappuccio G; Department of Translational Medicine, Section of Pediatrics, Federico II University, Naples, Italy.; Telethon Institute of Genetics and Medicine (TIGEM), Pozzuoli, Italy.; Kitchin CS; Division of Human Genetics, Faculty of Health Sciences, University of Cape Town, Cape Town, South Africa.; Diaz-Kuan A; Instituto de Medicina Genética, Santiago de Surco, Lima, Peru.; Thong MK; Department of Paediatrics, Faculty of Medicine, University of Malaya, Kuala Lumpur, Malaysia.; Obregon MG; Servicio de Genética, Hospital de Pediatría Garrahan, Buenos Aires, Argentina.; Mutesa L; Centre for Human Genetics, School of Medicine and Pharmacy, College of Medicine and Health Sciences, University of Rwanda, Kigali, Rwanda.; Dissanayake VHW; Human Genetics Unit, Faculty of Medicine, University of Colombo, Colombo, Sri Lanka.; El Ruby MO; Clinical Genetics Department, Human Genetics and Genome Research Division, National Research Centre, Cairo, Egypt.; Brunetti-Pierri N; Department of Translational Medicine, Section of Pediatrics, Federico II University, Naples, Italy.; Telethon Institute of Genetics and Medicine (TIGEM), Pozzuoli, Italy.; Ekure EN; Department of Paediatrics, College of Medicine, University of Lagos, Lagos, Nigeria.; Stevenson RE; Greenwood Genetic Center, Greenwood, South Carolina, USA.; Muenke M; Medical Genetics Branch, National Human Genome Research Institute, The National Institutes of Health, Bethesda, Maryland, USA.; Kruszka P; Medical Genetics Branch, National Human Genome Research Institute, The National Institutes of Health, Bethesda, Maryland, 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

Eason C; Department of Dermatology and Dermatologic Surgery, Medical University of South Carolina, Charleston, SC, USA.; Aleisa A; Department of Dermatology and Dermatologic Surgery, Medical University of South Carolina, Charleston, SC, USA.; Department of Dermatology, King Saud Medical City, Riyadh, Saudi Arabia.; Jones JR; Greenwood Genetic Center, Greenwood, SC, USA.; Prijoles EJ; Greenwood Genetic Center, Greenwood, SC, USA.; Wine Lee L; Department of Dermatology and Dermatologic Surgery, Medical University of South Carolina, Charleston, SC, USA.

Publisher: Wiley Country of Publication: United States NLM ID: 8406799 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1525-1470 (Electronic) Linking ISSN: 07368046 NLM ISO Abbreviation: Pediatr Dermatol Subsets: MEDLINE

Rots D; Radboudumc, Department of Human Genetics, Nijmegen, the Netherlands.; Jakub TE; Dalhousie University, Department of Biochemistry and Molecular Biology, Faculty of Medicine, Halifax, NS, Canada.; Keung C; Dalhousie University, Department of Biochemistry and Molecular Biology, Faculty of Medicine, Halifax, NS, Canada.; Jackson A; Division of Evolution and Genomic Sciences, School of Biological Sciences, Faculty of Biology, Medicine and Health, University of Manchester, Manchester, UK.; Banka S; Division of Evolution and Genomic Sciences, School of Biological Sciences, Faculty of Biology, Medicine and Health, University of Manchester, Manchester, UK; Manchester Centre for Genomic Medicine, St. Mary's Hospital, Manchester University NHS Foundation Trust, Health Innovation Manchester, Manchester, UK.; Pfundt R; Radboudumc, Department of Human Genetics, Nijmegen, the Netherlands.; de Vries BBA; Radboudumc, Department of Human Genetics, Nijmegen, the Netherlands.; van Jaarsveld RH; Department of Genetics, University Medical Center Utrecht, Utrecht, the Netherlands.; Hopman SMJ; Department of Genetics, University Medical Center Utrecht, Utrecht, the Netherlands.; van Binsbergen E; Department of Genetics, University Medical Center Utrecht, Utrecht, the Netherlands.; Valenzuela I; Hospital Universitari Vall D'Hebron, Clinical and Molecular Genetics Unit, Barcelona, Catalonia, Spain.; Hempel M; Institute of Human Genetics, University Medical Center Hamburg-Eppendorf, Hamburg, Germany.; Bierhals T; Institute of Human Genetics, University Medical Center Hamburg-Eppendorf, Hamburg, Germany.; Kortüm F; Institute of Human Genetics, University Medical Center Hamburg-Eppendorf, Hamburg, Germany.; Lecoquierre F; University Rouen Normandie, Inserm U1245 and CHU Rouen, Department of Genetics and Reference Center for Developmental Disorders, 76000 Rouen, France.; Goldenberg A; University Rouen Normandie, Inserm U1245 and CHU Rouen, Department of Genetics and Reference Center for Developmental Disorders, 76000 Rouen, France.; Hertz JM; Odense University Hospital, Department of Clinical Genetics, Odense, Denmark; University of Southern Denmark, Department of Clinical Research, Odense, Denmark.; Andersen CB; Odense University Hospital, Department of Clinical Genetics, Odense, Denmark.; Kibæk M; Department of Pediatrics, Odense University Hospital, Odense, Denmark.; Prijoles EJ; Greenwood Genetic Center, Greenwood, SC, USA.; Stevenson RE; Greenwood Genetic Center, Greenwood, SC, USA.; Everman DB; Greenwood Genetic Center, Greenwood, SC, USA.; Patterson WG; Greenwood Genetic Center, Greenwood, SC, USA.; Meng L; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX 77030, USA; Baylor Genetics Laboratories, Houston, TX 77021, USA.; Gijavanekar C; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX 77030, USA; Baylor Genetics Laboratories, Houston, TX 77021, USA.; De Dios K; Division of Medical Genetics, Dayton Children's Hospital, Dayton, OH, USA.; Lakhani S; Center for Neurogenetics, Weill Cornell Medicine, Brain and Mind Research Institute, New York, NY, USA.; Levy T; Center for Neurogenetics, Weill Cornell Medicine, Brain and Mind Research Institute, New York, NY, USA.; Wagner M; Institute of Human Genetics, School of Medicine, Technical University Munich, Munich, Germany; Institute of Neurogenomics, Helmholtz Zentrum München, Neuherberg, Germany; Division of Pediatric Neurology, Department of Pediatrics, Dr. von Hauner Children's Hospital, LMU University Hospital, Munich, Germany.; Wieczorek D; Institute of Human Genetics, Medical Faculty and University Hospital Düsseldorf, Heinrich-Heine-University Düsseldorf, Düsseldorf, Germany.; Benke PJ; Division of Genetics, Joe DiMaggio Children's Hospital, Hollywood, FL, USA.; Lopez Garcia MS; Hospital Universitario Donostia, San Sebastián, Spain.; Perrier R; Department of Medical Genetics, Alberta Children's Hospital and Cumming School of Medicine, University of Calgary, Calgary, AB, Canada.; Sousa SB; Medical Genetics Unit, Hospital Pediátrico, Centro Hospitalar e Universitário de Coimbra, Coimbra, Portugal.; Almeida PM; Medical Genetics Unit, Hospital Pediátrico, Centro Hospitalar e Universitário de Coimbra, Coimbra, Portugal.; Simões MJ; CBR Genomics, Cantanhede, Portugal; Genoinseq, Next-Generation Sequencing Unit, Biocant, Cantanhede, Portugal.; Isidor B; Service de Génétique Médicale, CHU Nantes, 44093 Nantes, France; Université de Nantes, CHU Nantes, CNRS, INSERM, l'Institut du Thorax, 44007 Nantes, France.; Deb W; Service de Génétique Médicale, CHU Nantes, 44093 Nantes, France; Université de Nantes, CHU Nantes, CNRS, INSERM, l'Institut du Thorax, 44007 Nantes, France.; Schmanski AA; Department of Genetic Medicine, Munroe-Meyer Institute, University of Nebraska Medical Center, Omaha, NE, USA.; Abdul-Rahman O; Department of Genetic Medicine, Munroe-Meyer Institute, University of Nebraska Medical Center, Omaha, NE, USA.; Philippe C; Unité Fonctionnelle Innovation en Diagnostic Génomique des Maladies Rares, Dijon, France; Inserm, UMR1231, Equipe GAD, Bâtiment B3, Université de Bourgogne Franche Comté, Dijon Cedex, France.; Bruel AL; Unité Fonctionnelle Innovation en Diagnostic Génomique des Maladies Rares, Dijon, France; Inserm, UMR1231, Equipe GAD, Bâtiment B3, Université de Bourgogne Franche Comté, Dijon Cedex, France.; Faivre L; Inserm, UMR1231, Equipe GAD, Bâtiment B3, Université de Bourgogne Franche Comté, Dijon Cedex, France; Centre de Référence Maladies Rares 'Anomalies du développement et syndromes malformatifs', Centre de Génétique, FHU-TRANSLAD et Institut GIMI, CHU Dijon Bourgogne, Dijon, France.; Vitobello A; Unité Fonctionnelle Innovation en Diagnostic Génomique des Maladies Rares, Dijon, France; Inserm, UMR1231, Equipe GAD, Bâtiment B3, Université de Bourgogne Franche Comté, Dijon Cedex, France.; Thauvin C; Unité Fonctionnelle Innovation en Diagnostic Génomique des Maladies Rares, Dijon, France; Inserm, UMR1231, Equipe GAD, Bâtiment B3, Université de Bourgogne Franche Comté, Dijon Cedex, France; Centre de Référence Déficiences Intellectuelles de Causes Rares, FHU-TRANSLAD, CHU Dijon Bourgogne, Dijon, France.; Smits JJ; Radboudumc, Department of Human Genetics, Nijmegen, the Netherlands.; Garavelli L; Medical Genetics Unit, Azienda USL-IRCCS di Reggio Emilia, 42123 Reggio Emilia, Italy.; Caraffi SG; Medical Genetics Unit, Azienda USL-IRCCS di Reggio Emilia, 42123 Reggio Emilia, Italy.; Peluso F; Medical Genetics Unit, Azienda USL-IRCCS di Reggio Emilia, 42123 Reggio Emilia, Italy.; Davis-Keppen L; University of South Dakota Sanford School of Medicine and Sanford Children's Hospital, Sioux Falls, SD, USA.; Platt D; University of South Dakota Sanford School of Medicine and Sanford Children's Hospital, Sioux Falls, SD, USA.; Royer E; University of South Dakota Sanford School of Medicine and Sanford Children's Hospital, Sioux Falls, SD, USA.; Leeuwen L; University Medical Center Groningen, Department of Genetics, Groningen, the Netherlands.; Sinnema M; Maastricht University Medical Center, Department of Clinical Genetics, Maastricht, the Netherlands.; Stegmann APA; Maastricht University Medical Center, Department of Clinical Genetics, Maastricht, the Netherlands.; Stumpel CTRM; Maastricht University Medical Center, Department of Clinical Genetics, Maastricht, the Netherlands; Department of Clinical Genetics and GROW-School for Oncology and Reproduction, Maastricht, the Netherlands.; Tiller GE; Kaiser Permanente, Department of Genetics, Los Angeles, CA, USA.; Bosch DGM; Erasmus Medical Centre, Genetics Department, Rotterdam, the Netherlands.; Potgieter ST; Laurentius Hospital, Roermond, the Netherlands.; Joss S; West of Scotland Regional Genetics Service, Laboratory Medicine Building, Queen Elizabeth University Hospital, Glasgow, UK.; Splitt M; Northern Genetics Service, Institute of Genetic Medicine, International Centre for Life, Newcastle Upon Tyne NE1 3BZ, UK.; Holden S; Department of Clinical Genetics, Cambridge University Hospital NHS Foundation Trust, Cambridge, UK.; Prapa M; Department of Clinical Genetics, Cambridge University Hospital NHS Foundation Trust, Cambridge, UK.; Foulds N; Wessex Clinical Genetics Services, University Hospital Southampton NHS Foundation Trust, Southampton SO16 5YA, UK.; Douzgou S; Division of Evolution and Genomic Sciences, School of Biological Sciences, Faculty of Biology, Medicine and Health, University of Manchester, Manchester, UK; Department of Medical Genetics, Haukeland University Hospital, Bergen, Norway.; Puura K; Department of Child Psychiatry, Tampere University and Tampere University Hospital, Tampere, Finland.; Waltes R; Department of Child and Adolescent Psychiatry, Psychosomatics and Psychotherapy, University Hospital Frankfurt, Goethe-Universität, Frankfurt am Main, Germany.; Chiocchetti AG; Department of Child and Adolescent Psychiatry, Psychosomatics and Psychotherapy, University Hospital Frankfurt, Goethe-Universität, Frankfurt am Main, Germany.; Freitag CM; Department of Child and Adolescent Psychiatry, Psychosomatics and Psychotherapy, University Hospital Frankfurt, Goethe-Universität, Frankfurt am Main, Germany.; Satterstrom FK; Analytic and Translational Genetics Unit, Department of Medicine, Massachusetts General Hospital, Boston, MA, USA; Stanley Center for Psychiatric Research, Broad Institute of MIT and Harvard, Cambridge, MA, USA.; De Rubeis S; Mindich Child Health and Development Institute and Departments of Pediatrics and Genetics and Genomic Sciences, Icahn School of Medicine at Mount Sinai, New York, NY, USA.; Buxbaum J; Mindich Child Health and Development Institute and Departments of Pediatrics and Genetics and Genomic Sciences, Icahn School of Medicine at Mount Sinai, New York, NY, USA.; Gelb BD; Mindich Child Health and Development Institute and Departments of Pediatrics and Genetics and Genomic Sciences, Icahn School of Medicine at Mount Sinai, New York, NY, USA.; Branko A; Department of Psychiatry, Nagoya University Graduate School of Medicine, Nagoya, Japan.; Kushima I; Department of Psychiatry, Nagoya University Graduate School of Medicine, Nagoya, Japan; Medical Genomics Center, Nagoya University Hospital, Nagoya, Japan.; Howe J; The Centre for Applied Genomics, Genetics and Genome Biology, The Hospital for Sick Children and University of Toronto, Toronto, ON, Canada.; Scherer SW; The Centre for Applied Genomics, Genetics and Genome Biology, The Hospital for Sick Children and University of Toronto, Toronto, ON, Canada.; Arado A; Laboratory of Human Genetics, IRCCS Istituto Giannina Gaslini, Genoa, Italy.; Baldo C; Laboratory of Human Genetics, IRCCS Istituto Giannina Gaslini, Genoa, Italy.; Patat O; Service de Génétique Médicale, Centre Hospitalier Universitaire de Toulouse, Toulouse, France.; Bénédicte D; Service de Génétique Clinique, Centre de référence maladies rares, CHU d'Amiens-site Sud, Amiens, France.; Lopergolo D; Department of Medicine, Surgery and Neurosciences, University of Siena, Siena, Italy; UOC Neurologia e Malattie Neurometaboliche, Azienda Ospedaliero Universitaria Senese, Policlinico Le Scotte, Viale Bracci, 2, 53100 Siena, Italy; IRCCS Stella Maris Foundation, Molecular Medicine for Neurodegenerative and Neuromuscular Diseases Unit, Pisa, Italy.; Santorelli FM; IRCCS Stella Maris Foundation, Molecular Medicine for Neurodegenerative and Neuromuscular Diseases Unit, Pisa, Italy.; Haack TB; Institute of Medical Genetics and Applied Genomics, University of Tuebingen, Tuebingen, Germany.; Dufke A; Institute of Medical Genetics and Applied Genomics, University of Tuebingen, Tuebingen, Germany.; Bertrand M; Institute of Medical Genetics and Applied Genomics, University of Tuebingen, Tuebingen, Germany.; Falb RJ; Institute of Medical Genetics and Applied Genomics, University of Tuebingen, Tuebingen, Germany.; Rieß A; Institute of Medical Genetics and Applied Genomics, University of Tuebingen, Tuebingen, Germany.; Krieg P; Department of Pediatrics, Städtisches Klinikum Karlsruhe, Karlsruhe, Germany.; Spranger S; Practice of Human Genetics, Bremen, Germany.; Bedeschi MF; Medical Genetic Unit, Fondazione IRCCS Ca' Granda Ospedale Maggiore Policlinico, Milano, Italy.; Iascone M; Laboratory of Medical Genetics, Ospedale Papa Giovanni XXIII, Bergamo, Italy.; Josephi-Taylor S; Department of Clinical Genetics, The Children's Hospital at Westmead, Sydney, NSW, Australia; Discipline of Genomic Medicine, Faculty of Medicine and Health, The University of Sydney, Sydney, NSW, Australia.; Roscioli T; Neuroscience Research Australia, University of New South Wales, Sydney, NSW, Australia; New South Wales Health Pathology Randwick Genomics Laboratory, Sydney, NSW, Australia; Centre for Clinical Genetics, Sydney Children's Hospital, Sydney, NSW 2031, Australia; Prince of Wales Clinical School, Faculty of Medicine, University of New South Wales, Sydney, NSW 2031, Australia.; Buckley MF; New South Wales Health Pathology Randwick Genomics Laboratory, Sydney, NSW, Australia.; Liebelt J; South Australian Clinical Genetics Service, Women's and Children's Hospital, Adelaide, SA, Australia.; Dagli AI; Orlando Health Arnold Palmer Hospital for Children, Division of Genetics, Orlando, FL, USA.; Aten E; Department of Clinical Genetics, Leiden University Medical Center, 2333 Leiden, the Netherlands.; Hurst ACE; Department of Genetics, University of Alabama at Birmingham, Birmingham, AL, USA.; Hicks A; Department of Genetics, University of Alabama at Birmingham, Birmingham, AL, USA.; Suri M; Nottingham Clinical Genetics Service, City Hospital Campus, Nottingham, UK.; Aliu E; Department of Pediatrics, Pennsylvania State University College of Medicine, Hershey, PA, USA.; Naik S; Department of Pediatrics, Pennsylvania State University College of Medicine, Hershey, PA, USA.; Sidlow R; Valley Children's Hospital, Valley Children's Place, Madera, CA 93636, USA.; Coursimault J; University Rouen Normandie, Inserm U1245 and CHU Rouen, Department of Genetics and Reference Center for Developmental Disorders, 76000 Rouen, France.; Nicolas G; University Rouen Normandie, Inserm U1245 and CHU Rouen, Department of Genetics and Reference Center for Developmental Disorders, 76000 Rouen, France.; Küpper H; Neuropediatric Department, University Hospital Tübingen, Tübingen, Germany.; Petit F; Centre Hospitalier Universitaire de Lille, Clinique de Génétique Guy Fontaine, Lille, France.; Ibrahim V; Dalhousie University, Department of Biochemistry and Molecular Biology, Faculty of Medicine, Halifax, NS, Canada; Department of Pharmacology, Faculty of Medicine, Dalhousie University, Halifax, NS, Canada.; Top D; Dalhousie University, Department of Biochemistry and Molecular Biology, Faculty of Medicine, Halifax, NS, Canada; Department of Pharmacology, Faculty of Medicine, Dalhousie University, Halifax, NS, Canada.; Di Cara F; Department of Microbiology and Immunology, Faculty of Medicine, Dalhousie University, Halifax, NS, Canada.; Louie RJ; Greenwood Genetic Center, Greenwood, SC, USA.; Stolerman E; Greenwood Genetic Center, Greenwood, SC, USA.; Brunner HG; Radboudumc, Department of Human Genetics, Nijmegen, the Netherlands; Maastricht University Medical Center, Department of Clinical Genetics, Maastricht, the Netherlands.; Vissers LELM; Radboudumc, Department of Human Genetics, Nijmegen, the Netherlands.; Kramer JM; Dalhousie University, Department of Biochemistry and Molecular Biology, Faculty of Medicine, Halifax, NS, Canada. Electronic address: jkramer@dal.ca.; Kleefstra T; Radboudumc, Department of Human Genetics, Nijmegen, the Netherlands; Center for Neuropsychiatry, Vincent van Gogh, Venray, the Netherlands; Department of Clinical Genetics, ErasmusMC, Rotterdam, the Netherlands. Electronic address: t.kleefstra@erasmusmc.nl.

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

Bend, Eric G; Aref-Eshghi, Erfan; Everman, David B; Rogers, R Curtis; Cathey, Sara S; Prijoles, Eloise J; Lyons, Michael J; Davis, Heather; Clarkson, Katie; Gripp, Karen W; Li, Dong; Bhoj, Elizabeth; Zackai, Elaine; Mark, Paul; Hakonarson, Hakon; Demmer, Laurie A; Levy, Michael A; Kerkhof, Jennifer; Stuart, Alan; Rodenhiser, David; Friez, Michael J; Stevenson, Roger E; Schwartz, Charles E; Sadikovic, Bekim

Clin Epigenetics
Clinical Epigenetics, Vol 11, Iss 1, Pp 1-17 (2019)
Paediatrics Publications

Dowsett L; Division of Human Genetics and Molecular Biology, The Children's Hospital of Philadelphia, Philadelphia, Pennsylvania.; The Department of Pediatrics, University of Pennsylvania Perelman School of Medicine, Philadelphia, Pennsylvania.; Department of Pediatrics, University of Hawai'i John A. Burns School of Medicine, Honolulu, Hawai'i.; Kapi'olani Medical Specialists, Honolulu, Hawai'i.; Porras AR; Sheikh Zayed Institute for Pediatric Surgical Innovation, Children's National Health System, Washington, District of Columbia.; Kruszka P; Medical Genetics Branch, National Human Genome Research Institute, The National Institutes of Health, Bethesda, Maryland.; Davis B; Medical Genetics Branch, National Human Genome Research Institute, The National Institutes of Health, Bethesda, Maryland.; Hu T; Medical Genetics Branch, National Human Genome Research Institute, The National Institutes of Health, Bethesda, Maryland.; Honey E; Department of Genetics, University of Pretoria, Pretoria, South Africa.; Badoe E; School of Medicine and Dentistry, College of Health Sciences, University of Ghana, Accra, Ghana.; Thong MK; Department of Paediatrics, Faculty of Medicine, University of Malaya, Kuala Lumpur, Malaysia.; Leon E; Division of Genetics and Metabolism, Children's National Health System, Washington, District of Columbia.; Girisha KM; Department of Medical Genetics, Kasturba Medical College, Manipal Academy of Higher Education, Manipal, India.; Shukla A; Department of Medical Genetics, Kasturba Medical College, Manipal Academy of Higher Education, Manipal, India.; Nayak SS; Department of Medical Genetics, Kasturba Medical College, Manipal Academy of Higher Education, Manipal, India.; Shotelersuk V; Center of Excellence for Medical Genetics, Department of Pediatrics, Faculty of Medicine, Chulalongkorn University, Bangkok, Thailand.; Megarbane A; Research Institut, Institut Jérôme Lejeune, Paris, France.; Phadke S; Department of Medical Genetics, Sanjay Gandhi Postgraduate Institute of Medical Sciences, Lucknow, Uttar Pradesh, India.; Sirisena ND; Human Genetics Unit, Faculty of Medicine, University of Colombo, Colombo, Sri Lanka.; Dissanayake VHW; Human Genetics Unit, Faculty of Medicine, University of Colombo, Colombo, Sri Lanka.; Ferreira CR; Division of Genetics and Metabolism, Children's National Health System, Washington, District of Columbia.; Kisling MS; Division of Genetics and Metabolism, Children's National Health System, Washington, District of Columbia.; Tanpaiboon P; Division of Genetics and Metabolism, Children's National Health System, Washington, District of Columbia.; Uwineza A; Center for Human Genetics, University of Rwanda, College of Medicine and Health Sciences, School of Medicine and Pharmacy, Kigali, Rwanda.; Mutesa L; Center for Human Genetics, University of Rwanda, College of Medicine and Health Sciences, School of Medicine and Pharmacy, Kigali, Rwanda.; Tekendo-Ngongang C; Division of Human Genetics, University of Cape Town, Cape Town, South Africa.; Wonkam A; Division of Human Genetics, University of Cape Town, Cape Town, South Africa.; Fieggen K; Division of Human Genetics, University of Cape Town, Cape Town, South Africa.; Batista LC; Department of Genetics, Institute of Biosciences, São Paulo State University-UNESP, São Paulo, Brazil.; Moretti-Ferreira D; Department of Genetics, Institute of Biosciences, São Paulo State University-UNESP, São Paulo, Brazil.; Stevenson RE; Greenwood Genetic Center, Greenwood, South Carolina.; Prijoles EJ; Greenwood Genetic Center, Greenwood, South Carolina.; Everman D; Greenwood Genetic Center, Greenwood, South Carolina.; Clarkson K; Greenwood Genetic Center, Greenwood, South Carolina.; Worthington J; Greenwood Genetic Center, Greenwood, South Carolina.; Kimonis V; Department of Pediatrics, Division of Genetics and Genomic Medicine, University of California, Irvine, California.; Hisama F; Department of Medicine, Division of Medical Genetics, University of Washington, Seattle, Washington.; Crowe C; MetroHealth Medical Center, Case Western Reserve University School of Medicine, Cleveland, Ohio.; Wong P; Department of Pediatrics, Rush University Medical College, Chicago, Illinois.; Johnson K; Department of Pediatrics, Rush University Medical College, Chicago, Illinois.; Clark RD; Division of Medical Genetics, Department of Pediatrics, Loma Linda University School of Medicine, Loma Linda, California.; Bird L; Department of Pediatrics, University of California Sand Diego, San Diego, California.; Department of Genetics, Rady Children's Hospital, San Diego, California.; Masser-Frye D; Department of Genetics, Rady Children's Hospital, San Diego, California.; McDonald M; Division of Medical Genetics, Department of Pediatrics, Duke Health, Durham, North Carolina.; Willems P; GENDIA, GENetic DIAgnostic Network, Antwerp, Belgium.; Roeder E; Department of Pediatrics and Molecular and Human Genetics, Baylor College of Medicine, Houston, Texas.; Saitta S; Division of Genetics, Department of Pediatrics, Cedars-Sinai Medical Center, Medical Genetics Institute, Los Angeles, California.; Anyane-Yeoba K; Division of Clinical Genetics, Columbia University Medical College, New York, New York.; Demmer L; Department of Pediatrics, Carolinas Medical Center, Charlotte, North Carolina.; Hamajima N; Department of Pediatrics, Nagoya City Jouhoku Hospital, Nagoya, Japan.; Stark Z; Murdoch Children's Research Institute, Victorian Clinical Genetics Services, Melbourne, Australia.; Gillies G; Bruce Lefroy Centre for Genetic Health Research, Murdoch Children's Research Institute, Melbourne, Australia.; Hudgins L; Department of Pediatrics, Division of Medical Genetics, Stanford University School of Medicine, Palo Alto, California.; Dave U; Haffkine Institute, MILS International India, Mumbai, India.; Shalev S; Ha'emek Medical Center, The Genetic Institute, Hafia, Israel.; Siu V; Medical Genetics Program, London Health Sciences Centre, Ontario, Canada.; Ades A; The Department of Pediatrics, University of Pennsylvania Perelman School of Medicine, Philadelphia, Pennsylvania.; Division of Neonatology, The Children's Hospital of Philadelphia, Philadelphia, Pennsylvania.; Dubbs H; Division of Neurology, The Children's Hospital of Philadelphia, Philadelphia, Pennsylvania.; Raible S; Division of Human Genetics and Molecular Biology, The Children's Hospital of Philadelphia, Philadelphia, Pennsylvania.; Kaur M; Division of Human Genetics and Molecular Biology, The Children's Hospital of Philadelphia, Philadelphia, Pennsylvania.; Salzano E; Division of Human Genetics and Molecular Biology, The Children's Hospital of Philadelphia, Philadelphia, Pennsylvania.; Jackson L; Division of Human Genetics and Molecular Biology, The Children's Hospital of Philadelphia, Philadelphia, Pennsylvania.; Department of Obstetrics and Gynecology, Drexel University College of Medicine, Philadelphia, Pennsylvania.; Deardorff M; Division of Human Genetics and Molecular Biology, The Children's Hospital of Philadelphia, Philadelphia, Pennsylvania.; The Department of Pediatrics, University of Pennsylvania Perelman School of Medicine, Philadelphia, Pennsylvania.; Kline A; Department of Pediatrics, Greater Baltimore Medical Center, Harvey Institute for Human Genetics, Baltimore, Maryland.; Summar M; Division of Genetics and Metabolism, Children's National Health System, Washington, District of Columbia.; Muenke M; Medical Genetics Branch, National Human Genome Research Institute, The National Institutes of Health, Bethesda, Maryland.; Linguraru MG; Sheikh Zayed Institute for Pediatric Surgical Innovation, Children's National Health System, Washington, District of Columbia.; Krantz ID; Division of Human Genetics and Molecular Biology, The Children's Hospital of Philadelphia, Philadelphia, Pennsylvania.; The Department of Pediatrics, University of Pennsylvania Perelman School of Medicine, Philadelphia, Pennsylvania.

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

Kruszka P; Medical Genetics Branch, National Human Genome Research Institute, The National Institutes of Health, Bethesda, Maryland.; Porras AR; Sheikh Zayed Institute for Pediatric Surgical Innovation, Children's National Health System, Washington, District of Columbia.; de Souza DH; Department of Genetics, Institute of Biosciences, Sao Paulo State University - UNESP, São Paulo, Brazil.; Moresco A; Servicio de Genética, Hospital de Pediatría Garrahan, Buenos Aires, Argentina.; Huckstadt V; Servicio de Genética, Hospital de Pediatría Garrahan, Buenos Aires, Argentina.; Gill AD; Medical Genetics Branch, National Human Genome Research Institute, The National Institutes of Health, Bethesda, Maryland.; Boyle AP; Sheikh Zayed Institute for Pediatric Surgical Innovation, Children's National Health System, Washington, District of Columbia.; Hu T; Medical Genetics Branch, National Human Genome Research Institute, The National Institutes of Health, Bethesda, Maryland.; Addissie YA; Medical Genetics Branch, National Human Genome Research Institute, The National Institutes of Health, Bethesda, Maryland.; Mok GTK; Department of Paediatrics and Adolescent Medicine, LKS Faculty of Medicine, The University of Hong Kong, Hong Kong Special Administrative Region, Hongkong, China.; Tekendo-Ngongang C; Division of Human Genetics, University of Cape Town, Cape Town, South Africa.; Fieggen K; Division of Human Genetics, University of Cape Town, Cape Town, South Africa.; Prijoles EJ; Greenwood Genetic Center, Greenwood, South Carolina.; Tanpaiboon P; Rare Disease Institute, Children's National Medical Center, Washington, District of Columbia.; Honey E; Department of Genetics, University of Pretoria, Pretoria, South Africa.; Luk HM; Clinical Genetic Service, Department of Health, Hong Kong Special Administrative Region, Hongkong, China.; Lo IFM; Clinical Genetic Service, Department of Health, Hong Kong Special Administrative Region, Hongkong, China.; Thong MK; Department of Paediatrics, Faculty of Medicine, University of Malaya, Kuala Lumpur, Malaysia.; Muthukumarasamy P; Department of Paediatrics, Faculty of Medicine, University of Malaya, Kuala Lumpur, Malaysia.; Jones KL; Division of Medical Genetics and Metabolism, Children's Hospital of The King's Daughters, Norfolk, Virginia.; Belhassan K; Medical Genetics Branch, National Human Genome Research Institute, The National Institutes of Health, Bethesda, Maryland.; Medical Genetics and Oncogenetics Unit, Hassan II University Hospital, Fez, Morocco.; Ouldim K; Medical Genetics and Oncogenetics Unit, Hassan II University Hospital, Fez, Morocco.; El Bouchikhi I; Medical Genetics and Oncogenetics Unit, Hassan II University Hospital, Fez, Morocco.; Laboratory of Microbial Biotechnology, Faculty of Sciences and Techniques, University of Sidi Mohammed Ben Abdellah, Fez, Morocco.; Bouguenouch L; Medical Genetics and Oncogenetics Unit, Hassan II University Hospital, Fez, Morocco.; Shukla A; Department of Medical Genetics, Kasturba Medical College, Manipal University, Manipal, India.; Girisha KM; Department of Medical Genetics, Kasturba Medical College, Manipal University, Manipal, India.; Sirisena ND; Human Genetics Unit, Faculty of Medicine, University of Colombo, Colombo, Sri Lanka.; Dissanayake VHW; Human Genetics Unit, Faculty of Medicine, University of Colombo, Colombo, Sri Lanka.; Paththinige CS; Human Genetics Unit, Faculty of Medicine, University of Colombo, Colombo, Sri Lanka.; Mishra R; Human Genetics Unit, Faculty of Medicine, University of Colombo, Colombo, Sri Lanka.; Kisling MS; Rare Disease Institute, Children's National Medical Center, Washington, District of Columbia.; Ferreira CR; Rare Disease Institute, Children's National Medical Center, Washington, District of Columbia.; de Herreros MB; National Secretariat for the Rights of People with Disabilities (SENADIS), Fernando de la Mora, Paraguay.; Lee NC; Department of Pediatrics and Medical Genetics, National Taiwan University Hospital, Taipei, Taiwan.; Jamuar SS; Genetics Service, Department of Paediatrics, KK Women's and Children's Hospital, Singapore, Singapore.; Lai A; Genetics Service, Department of Paediatrics, KK Women's and Children's Hospital, Singapore, Singapore.; Tan ES; Genetics Service, Department of Paediatrics, KK Women's and Children's Hospital, Singapore, Singapore.; Ying Lim J; Genetics Service, Department of Paediatrics, KK Women's and Children's Hospital, Singapore, Singapore.; Wen-Min CB; Genetics Service, Department of Paediatrics, KK Women's and Children's Hospital, Singapore, Singapore.; Gupta N; Division of Genetics, Department of Pediatrics, All India Institute of Medical Sciences, New Delhi, India.; Lotz-Esquivel S; Research Department, Hospital San Juan de Dios (CCSS), San José, Costa Rica.; Badilla-Porras R; Medical Genetics and Metabolism Department, Hospital Nacional de Niños (CCSS), San José, Costa Rica.; Hussen DF; Department of Human Cytogenetics, The National Research Centre, Cairo, Egypt.; El Ruby MO; Clinical Genetics Department, National Research Centre, Cairo, Egypt.; Ashaat EA; Clinical Genetics Department, National Research Centre, Cairo, Egypt.; Patil SJ; Mazumdar Shaw Medical Center, Narayana Health City, Bangalore, India.; Dowsett L; Kapi'olani Medical Center for Women and Children, Honolulu, Hawaii.; Eaton A; Department of Medical Genetics and Alberta Children's Hospital Research Institute, Cumming School of Medicine, University of Calgary, Calgary, Alberta.; Innes AM; Department of Medical Genetics and Alberta Children's Hospital Research Institute, Cumming School of Medicine, University of Calgary, Calgary, Alberta.; Shotelersuk V; Center of Excellence for Medical Genetics, Department of Pediatrics, Faculty of Medicine, Chulalongkorn University, Bangkok, Thailand.; Badoe Ë; School of Medicine and Dentistry, College of Health Sciences, University of Ghana, Accra, Ghana.; Wonkam A; Division of Human Genetics, University of Cape Town, Cape Town, South Africa.; Obregon MG; Servicio de Genética, Hospital de Pediatría Garrahan, Buenos Aires, Argentina.; Chung BHY; Department of Paediatrics and Adolescent Medicine, LKS Faculty of Medicine, The University of Hong Kong, Hong Kong Special Administrative Region, Hongkong, China.; Trubnykova M; Instituto Nacional de Salud del Niño, Lima, Peru.; La Serna J; Instituto Nacional de Salud del Niño, Lima, Peru.; Gallardo Jugo BE; Instituto Nacional de Salud del Niño, Lima, Peru.; Chávez Pastor M; Instituto Nacional de Salud del Niño, Lima, Peru.; Abarca Barriga HH; Instituto Nacional de Salud del Niño, Lima, Peru.; Megarbane A; Institut Jérôme Lejeune, Paris, France.; Kozel BA; National Heart, Lung, and Blood Institute, National Institutes of Health, Bethesda, Maryland, Department of Pediatrics, Washington University School of Medicine, St. Louis, Missouri.; van Haelst MM; Department of Genetics, University Medical Centre, Utrecht, Utrecht, The Netherlands.; Stevenson RE; Greenwood Genetic Center, Greenwood, South Carolina.; Summar M; Rare Disease Institute, Children's National Medical Center, Washington, District of Columbia.; Adeyemo AA; Center for Research on Genomics and Global Health, National Human Genome Research Institute, The National Institutes of Health, Bethesda, Maryland.; Morris CA; Department of Pediatrics (Genetics Division), University of Nevada School of Medicine, Las Vegas, Nevada.; Moretti-Ferreira D; Department of Genetics, Institute of Biosciences, Sao Paulo State University - UNESP, São Paulo, Brazil.; Linguraru MG; Sheikh Zayed Institute for Pediatric Surgical Innovation, Children's National Health System, Washington, District of Columbia.; Muenke M; Medical Genetics Branch, National Human Genome Research Institute, The National Institutes of Health, Bethesda, Maryland.

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

Kruszka P; Medical Genetics Branch, National Human Genome Research Institute, The National Institutes of Health, Bethesda, Maryland.; Porras AR; Children's National Health System, Sheikh Zayed Institute for Pediatric Surgical Innovation, Washington, District of Columbia.; Addissie YA; Medical Genetics Branch, National Human Genome Research Institute, The National Institutes of Health, Bethesda, Maryland.; Moresco A; Servicio de Genética, Hospital de Pediatría Garrahan, Buenos Aires, Argentina.; Medrano S; Servicio de Genética, Hospital de Pediatría Garrahan, Buenos Aires, Argentina.; Mok GTK; LKS Faculty of Medicine, Department of Paediatrics and Adolescent Medicine, The University of Hong Kong, Hong Kong Special Administrative Region, Hong Kong, China.; Leung GKC; LKS Faculty of Medicine, Department of Paediatrics and Adolescent Medicine, The University of Hong Kong, Hong Kong Special Administrative Region, Hong Kong, China.; Tekendo-Ngongang C; Division of Human Genetics, University of Cape Town, Cape Town, South Africa.; Uwineza A; Center of Human Genetics, School of Medicine and Pharmacy, College of Medicine and Pharmacy, University of Rwanda, Kigali, Rwanda.; Thong MK; Faculty of Medicine,Department of Paediatrics, University of Malaya, Kuala Lumpur, Malaysia.; Muthukumarasamy P; Faculty of Medicine,Department of Paediatrics, University of Malaya, Kuala Lumpur, Malaysia.; Honey E; Department of Genetics, University of Pretoria, Pretoria, South Africa.; Ekure EN; Department of Paediatrics College of Medicine, University of Lagos, Lagos University Teaching Hospital, Lagos, Nigeria.; Sokunbi OJ; Department of Paediatrics College of Medicine, University of Lagos, Lagos University Teaching Hospital, Lagos, Nigeria.; Kalu N; Department of Paediatrics College of Medicine, University of Lagos, Lagos University Teaching Hospital, Lagos, Nigeria.; Jones KL; Division of Medical Genetics, Department of Pediatrics, University of Mississippi Medical Center, Jackson, Mississippi.; Kaplan JD; Division of Medical Genetics, Department of Pediatrics, University of Mississippi Medical Center, Jackson, Mississippi.; Abdul-Rahman OA; Division of Medical Genetics, Department of Pediatrics, University of Mississippi Medical Center, Jackson, Mississippi.; Vincent LM; GeneDx, Gaithersburg, Maryland.; Love A; GeneDx, Gaithersburg, Maryland.; Belhassan K; Medical Genetics Branch, National Human Genome Research Institute, The National Institutes of Health, Bethesda, Maryland.; Medical Genetics and Oncogenetics Unit, Hassan II University Hospital, Fez, Morocco.; Ouldim K; Medical Genetics and Oncogenetics Unit, Hassan II University Hospital, Fez, Morocco.; El Bouchikhi I; Medical Genetics and Oncogenetics Unit, Hassan II University Hospital, Fez, Morocco.; Faculty of Sciences and Techniques,Laboratory of Microbial Biotechnology, University of Sidi Mohammed Ben Abdellah, Fez, Morocco.; Shukla A; Department of Medical Genetics, Kasturba Medical College, Manipal University, Manipal, India.; Girisha KM; Department of Medical Genetics, Kasturba Medical College, Manipal University, Manipal, India.; Patil SJ; Mazumdar Shaw Medical Center, Narayana Health City, Bangalore, India.; Sirisena ND; Faculty of Medicine, Human Genetics Unit, University of Colombo, Colombo, Sri Lanka.; Dissanayake VHW; Faculty of Medicine, Human Genetics Unit, University of Colombo, Colombo, Sri Lanka.; Paththinige CS; Faculty of Medicine, Human Genetics Unit, University of Colombo, Colombo, Sri Lanka.; Mishra R; Faculty of Medicine, Human Genetics Unit, University of Colombo, Colombo, Sri Lanka.; Klein-Zighelboim E; Instituto Nacional de Salud del Niño, Lima, Peru.; Gallardo Jugo BE; Instituto Nacional de Salud del Niño, Lima, Peru.; Chávez Pastor M; Instituto Nacional de Salud del Niño, Lima, Peru.; Abarca-Barriga HH; Instituto Nacional de Salud del Niño, Lima, Peru.; Skinner SA; Greenwood Genetic Center, Greenwood, South Carolina.; Prijoles EJ; Greenwood Genetic Center, Greenwood, South Carolina.; Badoe E; School of Medicine and Dentistry,Department of Child Health, College of Health Sciences, Accra, Ghana.; Gill AD; Medical Genetics Branch, National Human Genome Research Institute, The National Institutes of Health, Bethesda, Maryland.; Shotelersuk V; Faculty of Medicine,Center of Excellence for Medical Genetics, Department of Pediatrics, Chulalongkorn University, Bangkok, Thailand.; Smpokou P; Division of Genetics and Metabolism, Children's National Health System, Washington, District of Columbia.; Kisling MS; Division of Genetics and Metabolism, Children's National Health System, Washington, District of Columbia.; Ferreira CR; Division of Genetics and Metabolism, Children's National Health System, Washington, District of Columbia.; Mutesa L; Center of Human Genetics, School of Medicine and Pharmacy, College of Medicine and Pharmacy, University of Rwanda, Kigali, Rwanda.; Megarbane A; Institut Jérôme Lejeune, Paris, France.; Kline AD; Harvey Institute for Human Genetics, Greater Baltimore Medical Center, Baltimore, Maryland.; Kimball A; Harvey Institute for Human Genetics, Greater Baltimore Medical Center, Baltimore, Maryland.; Okello E; Uganda Heart Institute, Kampala, Uganda.; Lwabi P; Uganda Heart Institute, Kampala, Uganda.; Aliku T; Uganda Heart Institute, Kampala, Uganda.; Tenywa E; Uganda Heart Institute, Kampala, Uganda.; Jinja Regional Referral Hospital, Jinja, Uganda.; Boonchooduang N; Division of Developmental and Behavioral Pediatrics, Department of Pediatrics, Chiangmai University, Chiang Mai, Thailand.; Tanpaiboon P; Division of Genetics and Metabolism, Children's National Health System, Washington, District of Columbia.; Richieri-Costa A; Hospital for the Rehabilitation of Craniofacial Anomalies, São Paulo University, Bauru, Brazil.; Wonkam A; Division of Human Genetics, University of Cape Town, Cape Town, South Africa.; Chung BHY; LKS Faculty of Medicine, Department of Paediatrics and Adolescent Medicine, The University of Hong Kong, Hong Kong Special Administrative Region, Hong Kong, China.; Stevenson RE; Greenwood Genetic Center, Greenwood, South Carolina.; Summar M; Division of Genetics and Metabolism, Children's National Health System, Washington, District of Columbia.; Mandal K; Department of Medical Genetics, Sanjay Gandhi Postgraduate Institute of Medical Sciences, Lucknow, Uttar Pradesh, India.; Phadke SR; Department of Medical Genetics, Sanjay Gandhi Postgraduate Institute of Medical Sciences, Lucknow, Uttar Pradesh, India.; Obregon MG; Servicio de Genética, Hospital de Pediatría Garrahan, Buenos Aires, Argentina.; Linguraru MG; Children's National Health System, Sheikh Zayed Institute for Pediatric Surgical Innovation, Washington, District of Columbia.; Muenke M; Medical Genetics Branch, National Human Genome Research Institute, The National Institutes of Health, Bethesda, Maryland.

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

Beck DB; National Human Genome Research Institute, National Institutes of Health, Bethesda, MD 20892, USA.; Petracovici A; Graduate Group in Genetics and Epigenetics, University of Pennsylvania Perelman School of Medicine, Philadelphia, PA 19104, USA; Department of Cell and Developmental Biology, University of Pennsylvania Perelman School of Medicine, Philadelphia, PA 19104, USA; Epigenetics Institute, University of Pennsylvania Perelman School of Medicine, Philadelphia, PA 19104, USA.; He C; Department of Cell and Developmental Biology, University of Pennsylvania Perelman School of Medicine, Philadelphia, PA 19104, USA; Epigenetics Institute, University of Pennsylvania Perelman School of Medicine, Philadelphia, PA 19104, USA; Current address: Hunan Key Laboratory of Plant Functional Genomics and Developmental Regulation, Hunan University, Changsha 410082 Hunan, P.R. China.; Moore HW; Greenwood Genetic Center, Greenwood, SC 29646, USA.; Louie RJ; Greenwood Genetic Center, Greenwood, SC 29646, USA.; Ansar M; Department of Biochemistry, Faculty of Biological Sciences, Quaid-I-Azam University, 45320 Islamabad, Pakistan.; Douzgou S; Division of Evolution & Genomic Sciences, School of Biological Sciences, Faculty of Biology, Medicine and Health, University of Manchester, Manchester M13 9PL, UK; Manchester Centre for Genomic Medicine, St Mary's Hospital, Manchester University NHS Foundation Trust, Health Innovation Manchester, Manchester M13 9WL, UK.; Sithambaram S; Manchester Centre for Genomic Medicine, St Mary's Hospital, Manchester University NHS Foundation Trust, Health Innovation Manchester, Manchester M13 9WL, UK.; Cottrell T; Manchester Centre for Genomic Medicine, St Mary's Hospital, Manchester University NHS Foundation Trust, Health Innovation Manchester, Manchester M13 9WL, UK.; Santos-Cortez RLP; Department of Otolaryngology, University of Colorado School of Medicine, Aurora, CO 80045, USA.; Prijoles EJ; Greenwood Genetic Center, Greenwood, SC 29646, USA.; Bend R; Greenwood Genetic Center, Greenwood, SC 29646, USA.; Keren B; Assistance Publique-Hôpitaux de Paris, Groupe Hospitalier Pitié-Salpêtrière, Département de Génétique, Paris 75013, France.; Mignot C; Assistance Publique-Hôpitaux de Paris, Groupe Hospitalier Pitié-Salpêtrière, Département de Génétique, Paris 75013, France; Centre de Référence Déficiences Intellectuelles de Causes Rares, Paris 75013, France.; Nougues MC; Assistance Publique-Hôpitaux de Paris, Armand Trousseau Hospital, Department of Neuropediatrics, Paris 75012, France.; Õunap K; Department of Clinical Genetics, United Laboratories, Tartu University Hospital, Tartu 50406, Estonia; Department of Clinical Genetics, Institute of Clinical Medicine, University of Tartu, Tartu 50406, Estonia.; Reimand T; Department of Clinical Genetics, United Laboratories, Tartu University Hospital, Tartu 50406, Estonia; Department of Clinical Genetics, Institute of Clinical Medicine, University of Tartu, Tartu 50406, Estonia; Chair of Human Genetics, Institute of Biomedicine and Translational Medicine, University of Tartu, Tartu 50406, Estonia.; Pajusalu S; Department of Clinical Genetics, United Laboratories, Tartu University Hospital, Tartu 50406, Estonia; Department of Clinical Genetics, Institute of Clinical Medicine, University of Tartu, Tartu 50406, Estonia; Yale University School of Medicine, Department of Genetics, New Haven, CT 06510, USA.; Zahid M; Department of Biochemistry, Faculty of Biological Sciences, Quaid-I-Azam University, 45320 Islamabad, Pakistan.; Saqib MAN; Pakistan Health Research Council, 45320 Islamabad, Pakistan.; Buratti J; Assistance Publique-Hôpitaux de Paris, Groupe Hospitalier Pitié-Salpêtrière, Département de Génétique, Paris 75013, France.; Seaby EG; Program in Medical and Population Genetics, Broad Institute of MIT and Harvard, Cambridge, MA 02142, USA; Analytic and Translational Genetics Unit, Massachusetts General Hospital, Boston, MA 02114, USA.; McWalter K; GeneDx, Gaithersburg, MD 20877, USA.; Telegrafi A; GeneDx, Gaithersburg, MD 20877, USA.; Baldridge D; Department of Pediatrics, Division of Genetics and Genomic Medicine, Washington University School of Medicine, St. Louis, MO 63110, USA.; Shinawi M; Department of Pediatrics, Division of Genetics and Genomic Medicine, Washington University School of Medicine, St. Louis, MO 63110, USA.; Leal SM; Center for Statistical Genetics, Gertrude H. Sergievsky Center, Taub Institute for Alzheimer's D disease and the Aging Brain, Department of Neurology, Columbia University Medical Center, 630 W 168th St, New York, NY 10032, USA.; Schaefer GB; University of Arkansas for Medical Sciences, Lowell, AK 72745, USA.; Stevenson RE; Greenwood Genetic Center, Greenwood, SC 29646, USA.; Banka S; Division of Evolution & Genomic Sciences, School of Biological Sciences, Faculty of Biology, Medicine and Health, University of Manchester, Manchester M13 9PL, UK; Manchester Centre for Genomic Medicine, St Mary's Hospital, Manchester University NHS Foundation Trust, Health Innovation Manchester, Manchester M13 9WL, UK.; Bonasio R; Department of Cell and Developmental Biology, University of Pennsylvania Perelman School of Medicine, Philadelphia, PA 19104, USA; Epigenetics Institute, University of Pennsylvania Perelman School of Medicine, Philadelphia, PA 19104, USA.; Fahrner JA; Department of Pediatrics, McKusick-Nathans Institute of Genetic Medicine, Johns Hopkins University, Baltimore, MD 21205, USA. Electronic address: jfahrne1@jhmi.edu.

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

Prijoles EJ; Division of Genetics, Department of Pediatrics, University of South Florida, Tampa, Florida 33606, USA. eprijole@health.usf.edu; Adam M

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