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Savarirayan, Ravi ; Wilcox, William R ; Harmatz, Paul ; Phillips, John, III ; Polgreen, Lynda E ; Tofts, Louise ; Ozono, Keiichi ; Arundel, Paul ; Irving, Melita ; Bacino, Carlos A ; Basel, Donald ; Bober, Michael B ; Charrow, Joel ; Mochizuki, Hiroshi ; Kotani, Yumiko ; Saal, Howard M ; Army, Clare ; Jeha, George ; Qi, Yulan ; Han, Lynn ; Fisheleva, Elena ; Huntsman-Labed, Alice ; Day, Jonathan
In The Lancet Child & Adolescent Health January 2024 8(1):40-50
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Savarirayan, Ravi ; Tofts, Louise ; Irving, Melita ; Wilcox, William ; Bacino, Carlos A ; Hoover-Fong, Julie ; Ullot Font, Rosendo ; Harmatz, Paul ; Rutsch, Frank ; Bober, Michael B ; Polgreen, Lynda E ; Ginebreda, Ignacio ; Mohnike, Klaus ; Charrow, Joel ; Hoernschemeyer, Daniel ; Ozono, Keiichi ; Alanay, Yasemin ; Arundel, Paul ; Kagami, Shoji ; Yasui, Natsuo ; White, Klane K ; Saal, Howard M ; Leiva-Gea, Antonio ; Luna-González, Felipe ; Mochizuki, Hiroshi ; Basel, Donald ; Porco, Dania M ; Jayaram, Kala ; Fisheleva, Elena ; Huntsman-Labed, Alice ; Day, Jonathan
In The Lancet 5-11 September 2020 396(10252):684-692
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Cooperstein, Isabelle B.; Marwaha, Shruti; Ward, Alistair; Kobren, Shilpa N.; Carter, Jennefer N.; Quinlan, Aaron; Elkadri, Abdul; Vanderver, Adeline; Rebelo, Adriana; Beggs, Alan H; La Spada, Albert R; Huang, Alden; Paul, Alex; Miller, Alexander; Bale, Allen; McConkie-Rosell, Allyn; Krokosky, Alyson; Tran, Alyssa A; Gropman, Andrea; Vargas, Andres; Crouse, Andrew B; Stergachis, Andrew; Hurst, Anna; Raper, Anna; Slavotinek, Anne; Nouraee, Arian; Tarakad, Arjun; Andrews, Ashley; McMinn, Ashley; Balasubramanyam, Ashok; Iverson, Ayuko; Pusey Swerdzewski, Barbara N; Anguiano, Beatriz; Afzali, Ben; Solomon, Ben; Martin, Beth A; Russell, Bianca E; Wilk, Brandon M; Mitchell, Breanna; Lanpher, Brendan C; Lee, Brendan H; Fogel, Brent L; Bordini, Brett; Graham, Brett H; Tucker, Brianna; Gelb, Bruce; Korf, Bruce; MacRae, Calum A; Toro, Camilo; Skraban, Cara; Bacino, Carlos A; Pardo-Villamizar, Carlos A; Prada, Carlos; Oladele, Carol; Hendry, Caroline; Smith, Carson A; Shyr, Cathy; Esteves, Cecilia; Xiao, Changrui; Cunningham-Rundles, Charlotte; Reuter, Chloe M; Eng, Christine M; Mayhew, Christopher; Chan, Chun-Hung; Wahl, Colleen E; Welt, Corrine K; Tifft, Cynthia J; Kiley, Dana; Sayer, Dana; Rader, Daniel J; Wegner, Daniel; Miller, Danny E; Scott, Daryl A; Viskochil, Dave; Sweetser, David A; Adams, David R; Barbouth, Deborah; Rao, Deepak A; Oglesbee, Devin; Bonner, Devon; Basel, Donald; Novacic, Donna; velasq, Francisco Bustos; Baldridge, Dustin; Behrens, Edward; Silverman, Edwin K; Seto, Elaine; Kravets, Elijah; Rosenthal, Elisabeth; Worthey, Elizabeth A; Burke, Elizabeth A; Blue, Elizabeth; Chao, Elizabeth C; Fieg, Elizabeth L; Wohler, Elizabeth; Macnamara, Ellen F; Balton, Elsa; Glanton, Emily; Shelkowitz, Emily; Wang, Emily; Mendonca, Eneida; Allenspach, Eric; Gamazon, Eric; Gayle, Eric; Klee, Eric; Vilain, Eric; Davis, Erica; Conboy, Erin; Baldwin, Erin E; McRoy, Erin; Dell'Angelica, Esteban C; Ashley, Euan A; Cole, F Sessions; Vairo, Filippo Pinto E; High, Frances; Vetrini, Francesco; Rossignol, Francis; Hisama, Fuki M; Marth, Gabor; Jarvik, Gail P; Clark, Gary D; Carvalho, George; Berry, Gerard T; Mirzaa, Ghayda; Sirugo, Giorgio; Kilich, Gonench; Bademci, Guney; Mendez, Hector Rodrigo; Wood, Heidi; Taylor, Herman; Tabor, Holly K; Dai, Hongzheng; Chao, Hsiao-Tuan; Xu, Hua; Bellen, Hugo J; Zhang, Hui; Glass, Ian; Lanza, Ian R; Holm, Ingrid A; Kohane, Isaac S; Ward, Isum; Chinn, Ivan; Pallais, J Carl; Sampson, Jacinda B; Orengo, James P; Verbsky, James; Sninsky, Jared; Hom, Jason; Schend, Jason; Kohler, Jennefer N; Morgan, Jennifer; Schymick, Jennifer; Tousseau, Jennifer; Wambach, Jennifer; Douglas, Jessica; Fu, Jiayu; Rosenfeld, Jill A; Shin, Jimann; Stoler, Joan M; Jen, Joanna; Gonzalez, Joanna M; Phillips, John A; Carey, John; Gorzynski, John E; Mulvihill, John J; Davis, Joie; Bernstein, Jonathan A; Whitlock, Jordan; Abdenur, Jose; Loscalzo, Joseph; Cogan, Joy D; Martínez-Agosto, Julian A; Hoover-Fong, Julie; McCarrier, Julie; Alvey, Justin; Darr, Kahlen; Yap, Kai Lee; Callaway, Kaitlin; Leppig, Kathleen A; Page, Kathleen; Sullivan, Kathleen; Sisco, Kathy; Dipple, Katrina; Treat, Kayla M; Hassey, Kelly; Regan-Fendt, Kelly; Schoch, Kelly; Smith, Kevin S; Liaqat, Khurram; Worley, Kim; Ezell, Kimberly; LeBlanc, Kimberly; Blanco, Kirsten; Latchman, Kumarie; Perera, Lakshitha; Rodan, Lance H; Keehan, Laura; Cobban, Laurel A; Blieden, Lauren; Briere, Lauren C; Jeffries, Lauren; Wiel, Laurens; Abi Farraj, Layal F; Petcharet, Leoyklang; Peart, LéShon; Mantcheva, Lili; Solnica-Krezel, Lilianna; Burrage, Lindsay C; Mulvihill, Lindsay; Bastarache, Lisa; Schimmenti, Lisa; Emrick, Lisa T; Botto, Lorenzo; Potocki, Lorraine; Bier, Louise; Rives, Lynette; Wolfe, Lynne A; Barbosa, Mafalda; Steenari, Maija-Rikka; Butte, Manish J; Balwani, Manisha; Delgado, Margaret; Romero, María José Ortuño; Silva, María Paula; Acosta, Maria T; Morimoto, Marie; Nakano-Okuno, Mariko; Shadrina, Mariya; Gerstein, Mark; Wener, Mark; Sabaii, Marla; Horike-Pyne, Martha; Martin, Martin G; Rodriguez, Martin; Koziura, Mary; Velinder, Matt; Coggins, Matthew; Might, Matthew; Robinson, Matthew; Wheeler, Matthew T; Malicdan, MayChristine V; Bell, Megan; Halley, Meghan C; Walker, Melissa; Levanto, Mia; Bamshad, Michael; Wangler, Michael F; Muriello, Michael; Zimmermann, Michael T; Spencer-Manzon, Michele; Leitheiser, Miranda; Mikati, Mohamad; Saifeddine, Mohamad; Hubshman, Monika Weisz; Lek, Monkol; Westerfield, Monte; Tekin, Mustafa; Derar, Nada; Dorrani, Naghmeh; Sobreira, Nara; Parker, Neil H; Hanchard, Neil; Borja, Nicholas; Longo, Nicola; Walley, Nicole M; Dargie, Nitsuh K; Kaufman, Odelya; Kanca, Oguz; Jean-Marie, Orpa; Goddard, Page C; Moretti, Paolo; Ward, Patricia A; Dickson, Patricia; McMullen, Patrick; Auwaerter, Paul; Berger, Paul; Fisher, Paul G; Liu, Pengfei; Byers, Peter; Witmer, Philip Dane; Bayrak-Toydemir, Pinar; Lertwilaiwittaya, Pongtawat; D'Souza, Precilla; Tan, Queenie; Ungar, Rachel A; Evard, Rachel; Li, Rachel; Quarells, Rakale C; Rajagopalan, Ramakrishnan; Alvarez, Raquel L; Blackburn, Reaford; Spillmann, Rebecca C; Ganetzky, Rebecca; Overbury, Rebecca; Barrick, Rebekah; Lewis, Richard A; Chang, Richard; Maas, Richard L; Hamid, Rizwan; Mao, Rong; Marom, Ronit; Corona, Rosario I; Kumar, Runjun; Butterfield, Russell; Attaripour, Sanaz; Nagamani, Sandesh; Emami, Sara; Shuman, Saskia; Lalani, Seema R; Perlman, Seth; Ketkar, Shamika; Sunyaev, Shamil R; Kobren, Shilpa N; Yamamoto, Shinya; Mane, Shrikant; Chanprasert, Sirisak; Nelson, Stanley F; Zuchner, Stephan; Bivona, Stephanie; Ware, Stephanie M; Montgomery, Stephen B; Pak, Stephen C; Boyden, Steven; Bachir, Suha; Dasari, Surendra; Korrick, Susan; Shin, Susan; Sandmeyer, Suzanne; Mozaffar, Tahseen; Skelton, Tammi; Jensen, Tanner D; Mamidi, Tarun KK; Beagle, Taylor; Maurer, Taylor; Washington, Teneasha; Serrano, Teodoro Jerves; Coakley, Terra R; Cassini, Thomas; Nicholas, Thomas J; Schedl, Timothy; Vogel, Tiphanie P; Jobanputra, Vaidehi; Maduro, Valerie V; Shashi, Vandana; Vasiliou, Vasilis; Sybert, Virginia; Cuddapah, Vishnu; Introne, Wendy; Raskind, Wendy; Thorson, Willa; Gahl, William A; Byrd, William E; Craigen, William J; Halstead, Winston; Timp, Winston; Huang, Yan; Karasozen, Yigit; Jiang, Yong-Hui; Manabe, Yuka; Berger, Zackary Dov; Guo, Ziyuan
Genome Medicine. October 21, 2025, Vol. 17 Issue 1
Academic Journal
Savarirayan R; Skeletal Biology, Murdoch Children's Research Institute, Parkville, Melbourne, Australia.; Royal Children's Hospital, Parkville, Melbourne, Australia.; Department of Pediatrics, University of Melbourne, Parkville, Melbourne, Australia.; McDonnell C; Paediatric Endocrinology and Diabetes, Children's Health Ireland at Temple Street, Dublin, Ireland.; Paediatric Endocrinology, University of Dublin, Trinity College, Dublin, Ireland.; Bacino CA; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, Texas.; Hoernschemeyer DG; Pediatric Intensive Care Unit, University of Missouri Children's Hospital, Columbia.; Legare JM; Department of Pediatrics, University of Wisconsin School of Medicine and Public Health, Madison.; Abuzzahab MJ; McNeely Pediatric Diabetes Center and Endocrine Clinic, Children's Minnesota, Minneapolis.; Hofman PL; Clinical Research Unit, The Liggins Institute, University of Auckland, Auckland, New Zealand.; Campeau PM; Department de Pediatrie, Centre Hospitalier Universitaire Sainte-Justine Research Center, Montreal, Quebec, Canada.; de Bergua Domingo JM; Department of Orthopedics, Unidad de Cirugía Artroscópica, Vithas Vitoria Hospital, Vitoria-Gasteiz, Spain.; Ward LM; Pediatric Bone Health, University of Ottawa, Ottawa, Ontario, Canada.; Paediatric Orthopaedic Surgery, Children's Hospital of Eastern Ontario, Ottawa, Ontario, Canada.; Smit K; Pediatric Bone Health, University of Ottawa, Ottawa, Ontario, Canada.; Paediatric Orthopaedic Surgery, Children's Hospital of Eastern Ontario, Ottawa, Ontario, Canada.; Smith A; Endocrine Sciences, Ascendis Pharma, Palo Alto, California.; Mao M; Endocrine Sciences, Ascendis Pharma, Palo Alto, California.; Ominsky MS; Endocrine Sciences, Ascendis Pharma, Palo Alto, California.; Freiberg LC; Endocrine Sciences, Ascendis Pharma, Hellerup, Denmark.; Shu AD; Endocrine Sciences, Ascendis Pharma, Palo Alto, California.; Hove HB; Department of Clinical Genetics and Paediatrics, Copenhagen University Hospital, Rigshospitalet, Copenhagen, Denmark.
Publisher: American Medical Association Country of Publication: United States NLM ID: 101589544 Publication Model: Print Cited Medium: Internet ISSN: 2168-6211 (Electronic) Linking ISSN: 21686203 NLM ISO Abbreviation: JAMA Pediatr Subsets: MEDLINE
Academic Journal
Chau, Matthew Hoi Kin; Anderson, Stephanie A; Song, Rodger; Cooper, Lance; Ward, Patricia A; Yuan, Bo; Shaw, Chad; Stankiewicz, Paweł; Cheung, Sau Wai; Vossaert, Liesbeth; Wang, Yue; Owen, Nichole M; Smith, Janice; Bacino, Carlos A; Schulze, Katharina V; Bi, Weimin
Clinical Chemistry; Jan2025, Vol. 71 Issue 1, p141-154, 14p
Academic Journal
McDonnell, Ciara; Hove, Hanne; Legare, Janet M; Campeau, Philippe M; Hofman, Paul Leslie; Hoernschemeyer, Daniel G; de Bergua Domingo, Josep Maria; Jennifer Abuzzahab, M; Mao, Meng; Ballance, Irene; Freiberg, Lærke Clement; Dalby, Lene Worsaae; Shu, Aimee D; Bacino, Carlos A; Savarirayan, Ravi
J Endocr Soc
Academic Journal
German RJ; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, Texas, USA.; Jan and Dan Duncan Neurological Research Institute, Texas Children's Hospital, Houston, Texas, USA.; Vuocolo B; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, Texas, USA.; Jan and Dan Duncan Neurological Research Institute, Texas Children's Hospital, Houston, Texas, USA.; Vossaert L; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, Texas, USA.; Baylor Genetics Laboratories, Houston, Texas, USA.; Saba L; Department of Pathology, Texas Children's Hospital, Houston, Texas, USA.; Fletcher R; Greenwood Genetic Center, Greenwood, South Carolina, USA.; Tedder ML; Greenwood Genetic Center, Greenwood, South Carolina, USA.; Sadikovic B; Verspeeten Clinical Genome Centre, London Health Sciences Centre, London, ON, Canada.; Department of Pathology and Laboratory Medicine, Western University, London, ON, Canada.; Kerkhof J; Verspeeten Clinical Genome Centre, London Health Sciences Centre, London, ON, Canada.; Department of Pathology and Laboratory Medicine, Western University, London, ON, Canada.; Wangler M; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, Texas, USA.; Jan and Dan Duncan Neurological Research Institute, Texas Children's Hospital, Houston, Texas, USA.; Department of Genetics, Texas Children's Hospital, Houston, Texas, USA.; Bacino CA; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, Texas, USA.; Department of Genetics, Texas Children's Hospital, Houston, Texas, 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
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Kao EC; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, Texas, USA.; Baylor Genetics, Houston, Texas, USA.; Mizerik EA; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, Texas, USA.; Bacino CA; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, Texas, USA.; Dai H; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, Texas, USA.; Baylor Genetics, Houston, Texas, USA.; Vossaert L; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, Texas, USA.; Baylor Genetics, Houston, Texas, USA.; Scott DA; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, Texas, 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
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Guerrini, Renzo; Mei, Davide; Kerti-Szigeti, Katalin; Pepe, Sara; Koenig, Mary Kay; Allmen, Gretchen Von; Cho, Megan T; McDonald, Kimberly; Baker, Janice; Bhambhani, Vikas; Powis, Zöe; Rodan, Lance; Nabbout, Rima; Barcia, Giulia; Rosenfeld, Jill A; Bacino, Carlos A; Mignot, Cyril; Power, Lillian H; Harris, Catharine J; Marjanovic, Dragan
Neurodevelopmental and neurobehavioral characteristics in males and females with CDKL5 duplications.
Academic Journal
Szafranski, Przemyslaw; Golla, Sailaja; Jin, Weihong; Fang, Ping; Hixson, Patricia; Matalon, Reuben; Kinney, Daniel; Bock, Hans-georg; Craigen, William; Smith, Janice L; Bi, Weimin; Patel, Ankita; Wai Cheung, Sau; Bacino, Carlos A; Stankiewicz, Paweł
Academic Journal
Hipp JF; Roche Pharma Research and Early Development, Neuroscience and Rare Diseases, Roche Innovation Center Basel, F. Hoffmann-La Roche, Basel, Switzerland. joerg.hipp@roche.com.; Bacino CA; Department of Molecular and Human Genetics, Baylor College of Medicine and Baylor Genetics Laboratory, Texas Children's Hospital, Houston, TX, USA.; Bird LM; Department of Pediatrics; Division of Genetics/Dysmorphology, Rady Children's Hospital San Diego, University of California San Diego, San Diego, USA.; Bruenig-Traebert I; Roche Pharma Research and Early Development, Neuroscience and Rare Diseases, Roche Innovation Center Basel, F. Hoffmann-La Roche, Basel, Switzerland.; Chan D; Roche Pharma Research and Early Development (pRED), Strategy, Portfolio & Operations, Roche Innovation Center Basel, Basel, Switzerland.; de Wit MC; Department of Neurology and Pediatric Neurology and Erasmus MC center of expertise for neurodevelopmental disorders ENCORE, Erasmus MC, Rotterdam, The Netherlands.; Fontoura P; NOVA Medical School, Lisbon, Portugal.; Hooper G; Roche Products Ltd, Welwyn Garden City, UK.; Jagasia R; Roche Pharma Research and Early Development, Neuroscience and Rare Diseases, Roche Innovation Center Basel, F. Hoffmann-La Roche, Basel, Switzerland.; Krishnan ML; Roche Pharma Research and Early Development, Neuroscience and Rare Diseases, Roche Innovation Center Basel, F. Hoffmann-La Roche, Basel, Switzerland.; Murtagh L; Roche Pharma Research and Early Development, Neuroscience and Rare Diseases, Roche Innovation Center Basel, F. Hoffmann-La Roche, Basel, Switzerland.; Noci A; Product Development Neuroscience, Roche Innovation Center Basel, F. Hoffmann-La Roche, Basel, Switzerland.; Martínez AR; Division of Pediatric, Parc Taulí Hospital Universitari. Institut d'Investigació i Innovació Parc Taulí (I3PT-CERCA), Sabadell, Spain.; Schwab D; Roche Pharma Research and Early Development, Pharmaceutical Sciences, Roche Innovation Center Basel, F. Hoffmann-La Roche, Basel, Switzerland.; Serrano M; Pediatric Neurology Department, Hospital Sant Joan de Déu, Institut de Recerca Sant Joan de Déu, Barcelona, Spain.; Shen MD; UNC Carolina Institute for Developmental Disabilities (CIDD), Dept. of Psychiatry, and Neuroscience Center, University of North Carolina School of Medicine, Chapel Hill, NC, USA.; Tillmann J; Roche Pharma Research and Early Development, Neuroscience and Rare Diseases, Roche Innovation Center Basel, F. Hoffmann-La Roche, Basel, Switzerland.; Tjeertes J; Product Development Neuroscience, Roche Innovation Center Basel, F. Hoffmann-La Roche, Basel, Switzerland.; Vincenzi B; Product Development Neuroscience, Roche Innovation Center Basel, F. Hoffmann-La Roche, Basel, Switzerland.; Berry-Kravis E; Departments of Pediatrics, Neurological Sciences, Anatomy and Cell Biology, Rush University Medical Center, Chicago, IL, USA.; Bonni A; Roche Pharma Research and Early Development, Neuroscience and Rare Diseases, Roche Innovation Center Basel, F. Hoffmann-La Roche, Basel, Switzerland.
Publisher: Nature Publishing Company Country of Publication: United States NLM ID: 9502015 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1546-170X (Electronic) Linking ISSN: 10788956 NLM ISO Abbreviation: Nat Med Subsets: MEDLINE
Academic Journal
Kohler, Jennefer N.; Kelley, Emily G.; Boyd, Brenna M.; Sillari, Catherine H.; Marwaha, Shruti; Wheeler, Matthew T.; Acosta, Maria T; Adam, Margaret; Adams, David R; Agrawal, Pankaj B; Alejandro, Mercedes E; Alvey, Justin; Amendola, Laura; Andrews, Ashley; Ashley, Euan A; Azamian, Mahshid S; Bacino, Carlos A; Bademci, Guney; Baker, Eva; Balasubramanyam, Ashok
Journal of Genetic Counseling; Apr2022, Vol. 31 Issue 2, p326-337, 12p
Academic Journal
Peddibhotla, Sirisha; Nagamani, Sandesh CS; Erez, Ayelet; Hunter, Jill V; Holder Jr, J Lloyd; Carlin, Mary E; Bader, Patricia I; Perras, Helene MF; Allanson, Judith E; Newman, Leslie; Simpson, Gayle; Immken, LaDonna; Powell, Erin; Mohanty, Aaron; Kang, Sung-Hae L; Stankiewicz, Pawel; Bacino, Carlos A; Bi, Weimin; Patel, Ankita; Cheung, Sau W
Academic Journal
Sturrock, Beattie R. H.; Macnamara, Ellen F.; McGuire, Peter; Kruk, Shannon; Yang, Ivan; Murphy, Jennifer; Tifft, Cyndi J.; Gordon‐Lipkin, Eliza; Acosta, Maria T; Adam, Margaret; Adams, David R; Agrawal, Pankaj B; Alejandro, Mercedes E; Alvey, Justin; Amendola, Laura; Andrews, Ashley; Ashley, Euan A; Azamian, Mahshid S; Bacino, Carlos A; Bademci, Guney
Academic Journal
Mary R. Sy; Jaynee Chauhan; Katrina Prescott; Aliza Imam; Alison Kraus; Ana Beleza; Lee Salkeld; Saraswati Hosdurga; Michael Parker; Pradeep Vasudevan; Lily Islam; Himanshu Goel; Nicole Bain; Soo‐Mi Park; Shehla Mohammed; Klaus Dieterich; Charles Coutton; Véronique Satre; Gaëlle Vieville; Alan Donaldson; Claire Beneteau; Jamal Ghoumid; Kris Van Den Bogaert; Anneleen Boogaerts; Elise Boudry; Clémence Vanlerberghe; Florence Petit; Laura Bernardini; Barbara Torres; Teresa Mattina; Diana Carli; Giorgia Mandrile; Michele Pinelli; Nicola Brunetti‐Pierri; Katherine Neas; Rachel Beddow; Pernille M. Tørring; Flavio Faletra; Beatrice Spedicati; Paolo Gasparini; Alessandro Mussa; Giovanni Battista Ferrero; Anne Lampe; Wayne Lam; Weimin Bi; Carlos A. Bacino; Akela Kuwahara; Jeffrey O. Bush; Xiaonan Zhao; Pamela N. Luna; Chad A. Shaw; Jill A. Rosenfeld; Daryl A. Scott
American Journal of Medical Genetics Part A, vol 188, iss 12
Academic Journal
Lalani, Seema R; Shaw, Chad; Wang, Xueqing; Patel, Ankita; Patterson, Lance W; Kolodziejska, Katarzyna; Szafranski, Przemyslaw; Ou, Zhishuo; Tian, Qi; Kang, Sung-Hae L; Jinnah, Amina; Ali, Sophia; Malik, Aamir; Hixson, Patricia; Potocki, Lorraine; Lupski, James R; Stankiewicz, Pawel; Bacino, Carlos A; Dawson, Brian; Beaudet, Arthur L
Academic Journal
Sadhwani A; Department of Psychiatry and Behavioral Services, Boston Children's Hospital, Harvard Medical School, Boston, MA, USA. Anjali.sadhwani@childrens.harvard.edu.; Department of Psychiatry and Behavioral Services, Boston Children's Hospital, 300 Longwood Avenue, Boston, MA, 02115, USA. Anjali.sadhwani@childrens.harvard.edu.; Powers S; RTI International, Research Triangle Park, NC, USA.; Edmentum, Minneapolis, MN, USA.; Wheeler A; RTI International, Research Triangle Park, NC, USA.; Miller H; Harvard T.H. Chan School of Public Health, Boston, MA, USA.; Aetna, Hartford, CT, USA.; Potter SN; RTI International, Research Triangle Park, NC, USA.; Peters SU; Vanderbilt University School of Medicine, Nashville, TN, USA.; Bacino CA; Kleberg Genetics Clinic, Texas Children's Hospital, Baylor College of Medicine, Houston, TX, USA.; Skinner SA; Greenwood Genetic Center, Greenwood, SC, USA.; Wink LK; Division of Child Psychiatry, Cincinnati Children's Hospital Medical Center, Cincinnati, USA.; Talkiatry Management Services, LLC, New York, USA.; Erickson CA; Division of Child Psychiatry, Cincinnati Children's Hospital Medical Center, Cincinnati, USA.; Bird LM; University of California San Diego and Rady Children's Hospital, San Diego, CA, USA.; Tan WH; Department of Psychiatry and Behavioral Services, Boston Children's Hospital, Harvard Medical School, Boston, MA, USA.; Division of Genetics and Genomics, Boston Children's Hospital, Harvard Medical School, Boston, United States.
Publisher: BioMed Central Country of Publication: England NLM ID: 101483832 Publication Model: Electronic Cited Medium: Internet ISSN: 1866-1955 (Electronic) Linking ISSN: 18661947 NLM ISO Abbreviation: J Neurodev Disord Subsets: MEDLINE
Academic Journal
Qi Y; BioMarin Pharmaceutical Inc., 105 Digital Dr., Novato, CA, 949449, USA. yulan.qi@bmrn.com.; Chan ML; BioMarin Pharmaceutical Inc., 105 Digital Dr., Novato, CA, 949449, USA.; Mould DR; Projections Research Inc., Phoenixville, PA, USA.; Larimore K; BioMarin Pharmaceutical Inc., 105 Digital Dr., Novato, CA, 949449, USA.; Fisheleva E; BioMarin Pharmaceutical Inc., 105 Digital Dr., Novato, CA, 949449, USA.; Cherukuri A; BioMarin Pharmaceutical Inc., 105 Digital Dr., Novato, CA, 949449, USA.; Day J; BioMarin (UK) Limited, London, UK.; Savarirayan R; Murdoch Children's Research Institute, Royal Children's Hospital, University of Melbourne, Parkville, VIC, Australia.; Irving M; Guy's and St Thomas' NHS Foundation Trust, Evelina Children's Hospital, London, UK.; Bacino CA; Baylor College of Medicine, Houston, TX, USA.; Hoover-Fong J; Department of Genetic Medicine, Johns Hopkins University, Baltimore, MD, USA.; Ozono K; Osaka University Hospital, Osaka, Japan.; Mohnike K; Otto-von-Guericke-Universität, Magdeburg, Germany.; Wilcox WR; Emory University, Atlanta, GA, USA.; Bober MB; Nemours-Alfred I. du Pont Hospital for Children, Wilmington, DE, USA.; Henshaw J; BioMarin Pharmaceutical Inc., 105 Digital Dr., Novato, CA, 949449, USA.
Publisher: Adis, part of Springer Science+Business Media Country of Publication: Switzerland NLM ID: 7606849 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1179-1926 (Electronic) Linking ISSN: 03125963 NLM ISO Abbreviation: Clin Pharmacokinet Subsets: MEDLINE
Academic Journal
Rice, Gillian I; Kasher, Paul R; Forte, Gabriella M A; Mannion, Niamh M; Greenwood, Sam M; Szynkiewicz, Marcin; Dickerson, Jonathan E; Bhaskar, Sanjeev S; Zampini, Massimiliano; Briggs, Tracy A; Jenkinson, Emma M; Bacino, Carlos A; Battini, Roberta; Bertini, Enrico; Brogan, Paul A; Brueton, Louise A; Carpanelli, Marialuisa; De Laet, Corinne; de Lonlay, Pascale; del Toro, Mireia
Academic Journal
Savarirayan R; Murdoch Children's Research Institute, Royal Children's Hospital Victoria, University of Melbourne, Parkville, VIC, Australia. Electronic address: ravi.savarirayan@mcri.edu.au.; Irving M; Guy's and St. Thomas' NHS Foundation Trust, Evelina Children's Hospital, London, UK.; Wilcox WR; Department of Human Genetics, Emory University School of Medicine, Atlanta, GA, USA.; Bacino CA; Baylor College of Medicine, Houston, TX, USA.; Hoover-Fong JE; Johns Hopkins University School of Medicine, Baltimore, MD, USA.; Harmatz P; UCSF Benioff Children's Hospital Oakland, Oakland, CA, USA.; Polgreen LE; Lundquist Institute for Biomedical Innovation at Harbor-UCLA Medical Center, Torrance, CA, USA.; Palm K; Otto-von-Guericke Universität, Universitätskinderklinik, Magdeburg, Germany.; Prada CE; Ann and Robert H. Lurie Children's Hospital of Chicago, Chicago, IL, USA.; Kubota T; Osaka University, Osaka, Japan.; Arundel P; Sheffield Children's NHS Foundation Trust, Sheffield Children's Hospital, Sheffield, UK.; Kotani Y; Tokushima University Hospital, Tokushima, Japan.; Leiva-Gea A; Hospital Universitario Virgen de la Victoria, Instituto de Investigación Biomédica de Málaga, Málaga, Spain.; Bober MB; Nemours-Alfred I. du Pont Hospital for Children, Wilmington, DE, USA.; Hecht JT; McGovern Medical School and School of Dentistry, University of Texas Health, Houston, TX, USA.; Legare JM; University of Wisconsin School of Medicine and Public Health, Madison, WI, USA.; Lawrinson S; BioMarin (UK) Limited, Ltd., London, UK.; Low A; BioMarin (UK) Limited, Ltd., London, UK.; Sabir I; BioMarin (UK) Limited, Ltd., London, UK.; Huntsman-Labed A; BioMarin (UK) Limited, Ltd., London, UK.; Day JRS; BioMarin (UK) Limited, Ltd., London, UK.
Publisher: Cell Press Country of Publication: United States NLM ID: 101769215 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 2666-6340 (Electronic) Linking ISSN: 26666340 NLM ISO Abbreviation: Med Subsets: MEDLINE
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[AR] Bacino, Carlos A
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