부산대학교 도서관

Dharmadhikari, Avinash V.; Abad, Maria Alba; Khan, Sheraz; Maroofian, Reza; Sands, Tristan T.; Ullah, Farid; Samejima, Itaru; Shen, Yanwen; Wear, Martin A.; Moore, Kiara E.; Kondakova, Elena; Mitina, Natalia; Schaub, Theres; Lee, Grace K.; Umandap, Christine H.; Berger, Sara M.; Iglesias, Alejandro D.; Popp, Bernt; Abou Jamra, Rami; Gabriel, Heinz; Rentas, Stefan; Rippert, Alyssa L.; Gray, Christopher; Izumi, Kosuke; Conlin, Laura K.; Koboldt, Daniel C.; Mosher, Theresa Mihalic; Hickey, Scott E.; Albert, Dara V. F.; Norwood, Haley; Lewanda, Amy Feldman; Dai, Hongzheng; Liu, Pengfei; Mitani, Tadahiro; Marafi, Dana; Eker, Hatice Koçak; Pehlivan, Davut; Posey, Jennifer E.; Lippa, Natalie C.; Vena, Natalie; Heinzen, Erin L.; Goldstein, David B.; Mignot, Cyril; de Sainte Agathe, Jean-Madeleine; Al-Sannaa, Nouriya Abbas; Zamani, Mina; Sadeghian, Saeid; Azizimalamiri, Reza; Seifia, Tahere; Zaki, Maha S.; Abdel-Salam, Ghada M. H.; Abdel-Hamid, Mohamed S.; Alabdi, Lama; Alkuraya, Fowzan Sami; Dawoud, Heba; Lofty, Aya; Bauer, Peter; Zifarelli, Giovanni; Afzal, Erum; Zafar, Faisal; Efthymiou, Stephanie; Gossett, Daniel; Towne, Meghan C.; Yeneabat, Raey; Perez-Duenas, Belen; Cazurro-Gutierrez, Ana; Verdura, Edgard; Cantarin-Extremera, Veronica; Marques, Ana do Vale; Helwak, Aleksandra; Tollervey, David; Wontakal, Sandeep N.; Aggarwal, Vimla S.; Rosenfeld, Jill A.; Tarabykin, Victor; Ohta, Shinya; Lupski, James R.; Houlden, Henry; Earnshaw, William C.; Davis, Erica E.; Jeyaprakash, A. Arockia; Liao, Jun

Nature Communications. 16(1)

Juliá-Palacios N; Department of Pediatric Neurology, Hospital Sant Joan de Déu, IRSJD, 08950 Barcelona, Spain.; Muñoz-Pujol G; Biochemistry and Molecular Genetics, Division of Inborn Errors of Metabolism-IBC, Hospital Clínic de Barcelona, 08028 Barcelona, Spain.; Centro de Investigación Biomédica en Red de Enfermedades Raras (CIBERER), Instituto de Salud Carlos III (ISCIII), 28029 Madrid, Spain.; Institut d'Investigacions Biomèdiques August Pi i Sunyer (IDIBAPS), 08036 Barcelona, Spain.; Maroofian R; Department of Neuromuscular Disorders, UCL Queen Square Institute of Neurology, WC1N 3GB London, United Kingdom.; Bertoli-Avella AM; Medical Genetics and Reporting, CENTOGENE GmbH, 18055 Rostock, Germany.; Gómez-Chiari M; Department of Diagnostic Imaging, Hospital Sant Joan de Déu, IRSJD, 08950 Barcelona, Spain.; Muchart-López J; Department of Diagnostic Imaging, Hospital Sant Joan de Déu, IRSJD, 08950 Barcelona, Spain.; Paredes-Fuentes AJ; Biochemistry and Molecular Genetics, Division of Inborn Errors of Metabolism-IBC, Hospital Clínic de Barcelona, 08028 Barcelona, Spain.; Institut d'Investigacions Biomèdiques August Pi i Sunyer (IDIBAPS), 08036 Barcelona, Spain.; Department of Clinical Biochemistry, Hospital Sant Joan de Déu, IRSJD, 08950 Barcelona, Spain.; O'Callaghan M; Department of Pediatric Neurology, Hospital Sant Joan de Déu, IRSJD, 08950 Barcelona, Spain.; Centro de Investigación Biomédica en Red de Enfermedades Raras (CIBERER), Instituto de Salud Carlos III (ISCIII), 28029 Madrid, Spain.; Machado-Casas IS; Neuropediatrics and Neurodevelopment Unit, Hospital Universitario Clínico San Cecilio, 18007 Granada, Spain.; Cristian I; Division of Genetics, Arnold Palmer Hospital for Children, 32806 Orlando, FL, USA.; Morrison J; Division of Genetics, Arnold Palmer Hospital for Children, 32806 Orlando, FL, USA.; Garcia-Cazorla A; Department of Pediatric Neurology, Hospital Sant Joan de Déu, IRSJD, 08950 Barcelona, Spain.; Centro de Investigación Biomédica en Red de Enfermedades Raras (CIBERER), Instituto de Salud Carlos III (ISCIII), 28029 Madrid, Spain.; Neurometabolism and Synaptic Metabolism Lab, Department of Neurology and MetabERN, Hospital Sant Joan de Deu, 08950 Barcelona, Spain.; Codina A; Applied Research in Neuromuscular Diseases, Hospital Sant Joan de Déu, IRSJD, 08950 Barcelona, Spain.; Miryounesi M; Department of Medical Genetics, Faculty of Medicine, Shahid Beheshti University of Medical Sciences, 1985717413 Tehran, Iran.; Zonic E; Medical Genetics and Reporting, CENTOGENE GmbH, 18055 Rostock, Germany.; Bauer P; Medical Genetics and Reporting, CENTOGENE GmbH, 18055 Rostock, Germany.; Cheema H; Pediatric Department of Gastroenterology, Children's Hospital of Lahore, 54000 Lahore, Pakistan.; Anjum MN; Pediatric Department of Gastroenterology, Children's Hospital of Lahore, 54000 Lahore, Pakistan.; Al-Sannaa N; Johns Hopkins Aramco Health Care, 34465 Dhahran, Saudi Arabia.; Abd Elmaksoud M; Department of Pediatrics, Neurology Unit, Faculty of Medicine, Alexandria University, 21526 Alexandria, Egypt.; Ababneh F; Department of Genetics and Precision Medicine, King Abdullah Specialized Children Hospital, King Abdulaziz Medical City, MNGHA, 11481 Riyadh, Saudi Arabia.; King Abdullah International Medical Research Center, King Saud Bin Abdulaziz University for Health Sciences, 11481 Riyadh, Saudi Arabia.; Alijanpour S; Department of Genetics, Faculty of Medicine, Alborz University of Medical Sciences, 3149969415 Karaj, Iran.; Tonekaboni SH; Department of Pediatric Neurology, School of Medicine, Mofid Children's Hospital, Shahid Beheshti University of Medical Sciences, 15468 Tehran, Iran.; Fayazi A; Department of Pediatrics, School of Medicine, Hamadan University of Medical Sciences, 6517838678 Hamadan, Iran.; Urbaniak M; Department of Clinical Biochemistry, Hospital Sant Joan de Déu, IRSJD, 08950 Barcelona, Spain.; Barba U; Department of Clinical Biochemistry, Hospital Sant Joan de Déu, IRSJD, 08950 Barcelona, Spain.; Hoenicka J; Centro de Investigación Biomédica en Red de Enfermedades Raras (CIBERER), Instituto de Salud Carlos III (ISCIII), 28029 Madrid, Spain.; Laboratory of Neurogenetics and Molecular Medicine, Center for Genomic Sciences in Medicine, Hospital Sant Joan de Déu, IRSJD, 08950 Barcelona, Spain.; Palau F; Centro de Investigación Biomédica en Red de Enfermedades Raras (CIBERER), Instituto de Salud Carlos III (ISCIII), 28029 Madrid, Spain.; Laboratory of Neurogenetics and Molecular Medicine, Center for Genomic Sciences in Medicine, Hospital Sant Joan de Déu, IRSJD, 08950 Barcelona, Spain.; Houlden H; Department of Neuromuscular Disorders, UCL Queen Square Institute of Neurology, WC1N 3GB London, United Kingdom.; Ortigoza-Escobar JD; Department of Pediatric Neurology, Hospital Sant Joan de Déu, IRSJD, 08950 Barcelona, Spain.; Centro de Investigación Biomédica en Red de Enfermedades Raras (CIBERER), Instituto de Salud Carlos III (ISCIII), 28029 Madrid, Spain.; Ribes A; Biochemistry and Molecular Genetics, Division of Inborn Errors of Metabolism-IBC, Hospital Clínic de Barcelona, 08028 Barcelona, Spain.; Centro de Investigación Biomédica en Red de Enfermedades Raras (CIBERER), Instituto de Salud Carlos III (ISCIII), 28029 Madrid, Spain.; Institut d'Investigacions Biomèdiques August Pi i Sunyer (IDIBAPS), 08036 Barcelona, Spain.; Santos-Ocaña C; Centro de Investigación Biomédica en Red de Enfermedades Raras (CIBERER), Instituto de Salud Carlos III (ISCIII), 28029 Madrid, Spain.; Centro Andaluz de Biología del Desarrollo, Universidad Pablo de Olavide, 41013 Sevilla, Spain.; Tyler M; Cardiovascular and Genomics Research Institute, City St. George's, University of London, London SW17 0RE, United Kingdom.; Gaffney P; Genes and Human Disease Research Program, Oklahoma Medical Research Foundation, Oklahoma City, OK 73104, USA.; Carroll CJ; Cardiovascular and Genomics Research Institute, City St. George's, University of London, London SW17 0RE, United Kingdom.; Tort F; Biochemistry and Molecular Genetics, Division of Inborn Errors of Metabolism-IBC, Hospital Clínic de Barcelona, 08028 Barcelona, Spain.; Centro de Investigación Biomédica en Red de Enfermedades Raras (CIBERER), Instituto de Salud Carlos III (ISCIII), 28029 Madrid, Spain.; Institut d'Investigacions Biomèdiques August Pi i Sunyer (IDIBAPS), 08036 Barcelona, Spain.; Wierenga KJ; Department of Pediatrics, Division of Genetics and Metabolism, University of Florida, Gainesville, FL 32610, USA.; Webb BD; Department of Pediatrics, University of Wisconsin School of Medicine and Public Health, Madison, WI 53792, USA.; Department of Genetics and Genomic Sciences, Icahn School of Medicine at Mount Sinai, New York, NY 10029, USA.; Artuch R; Centro de Investigación Biomédica en Red de Enfermedades Raras (CIBERER), Instituto de Salud Carlos III (ISCIII), 28029 Madrid, Spain.; Department of Clinical Biochemistry, Hospital Sant Joan de Déu, IRSJD, 08950 Barcelona, Spain.; Baide-Mairena H; Department of Pediatric Neurology, Hospital Sant Joan de Déu, IRSJD, 08950 Barcelona, Spain.; Department of Pediatrics, Hospital General Granollers, 08402 Barcelona, Spain.; Urreizti R; Centro de Investigación Biomédica en Red de Enfermedades Raras (CIBERER), Instituto de Salud Carlos III (ISCIII), 28029 Madrid, Spain.; Department of Clinical Biochemistry, Hospital Sant Joan de Déu, IRSJD, 08950 Barcelona, Spain.

Publisher: Oxford University Press Country of Publication: England NLM ID: 101755125 Publication Model: eCollection Cited Medium: Internet ISSN: 2632-1297 (Electronic) Linking ISSN: 26321297 NLM ISO Abbreviation: Brain Commun Subsets: PubMed not MEDLINE

Alfadhel M; Al Sannaa N; Sunbul R; Al-Khawaja H; Askandarani S; Alanzi T; Elawad M; Fourtounas K

Therapeutics and Clinical Risk Management, Vol 20, Pp 641-652 (2024)

Daniel G. Calame; Isabella Herman; Reza Maroofian; Aren E. Marshall; Karina Carvalho Donis; Jawid M. Fatih; Tadahiro Mitani; Haowei Du; Christopher M. Grochowski; Sergio B. Sousa; Charul Gijavanekar; Somayeh Bakhtiari; Yoko A. Ito; Clarissa Rocca; Jill V. Hunter; V. Reid Sutton; Lisa T. Emrick; Kym M. Boycott; Alexander Lossos; Yakov Fellig; Eugenia Prus; Yosef Kalish; Vardiella Meiner; Manon Suerink; Claudia Ruivenkamp; Kayla Muirhead; Nebal W. Saadi; Maha S. Zaki; Arjan Bouman; Tahsin Stefan Barakat; David L. Skidmore; Matthew Osmond; Thiago Oliveira Silva; David Murphy; Ehsan Ghayoor Karimiani; Yalda Jamshidi; Asaad Ghanim Jaddoa; Homa Tajsharghi; Sheng Chih Jin; Mohammad Reza Abbaszadegan; Reza Ebrahimzadeh‐Vesal; Susan Hosseini; Shahryar Alavi; Amir Bahreini; Elahe Zarean; Mohammad Mehdi Salehi; Nouriya Abbas Al‐Sannaa; Giovanni Zifarelli; Peter Bauer; Simon C. Robson; Zeynep Coban‐Akdemir; Lorena Travaglini; Francesco Nicita; Shalini N. Jhangiani; Richard A. Gibbs; Jennifer E. Posey; Michael C. Kruer; Kristin D. Kernohan; Jonas A. Morales Saute; Henry Houlden; Adeline Vanderver; Sarah H. Elsea; Davut Pehlivan; Dana Marafi; James R. Lupski

Annals of Neurology. 92:304-321

Avinash V. Dharmadhikari; Maria Alba Abad; Sheraz Khan; Reza Maroofian; Tristan T. Sands; Farid Ullah; Itaru Samejima; Martin A. Wear; Kiara E. Moore; Elena Kondakova; Natalia Mitina; Theres Schaub; Grace K. Lee; Christine H. Umandap; Sara M. Berger; Alejandro D. Iglesias; Bernt Popp; Rami Abou Jamra; Heinz Gabriel; Stefan Rentas; Alyssa L Rippert; Kosuke Izumi; Laura K. Conlin; Daniel C. Koboldt; Theresa Mihalic Mosher; Scott E. Hickey; Dara V.F. Albert; Haley Norwood; Amy Feldman Lewanda; Hongzheng Dai; Pengfei Liu; Tadahiro Mitani; Dana Marafi; Davut Pehlivan; Jennifer E. Posey; Natalie Lippa; Natalie Vena; Erin L Heinzen; David B. Goldstein; Cyril Mignot; Jean-Madeleine de Sainte Agathe; Nouriya Abbas Al-Sannaa; Mina Zamani; Saeid Sadeghian; Reza Azizimalamiri; Tahere Seifia; Maha S. Zaki; Ghada M.H. Abdel-Salam; Mohamed Abdel-Hamid; Lama Alabdi; Fowzan Sami Alkuraya; Heba Dawoud; Aya Lofty; Peter Bauer; Giovanni Zifarelli; Erum Afzal; Faisal Zafar; Stephanie Efthymiou; Daniel Gossett; Meghan C. Towne; Raey Yeneabat; Sandeep N. Wontakal; Vimla S. Aggarwal; Jill A. Rosenfeld; Victor Tarabykin; Shinya Ohta; James R. Lupski; Henry Houlden; William C. Earnshaw; Erica E. Davis; A. Arockia Jeyaprakash; Jun Liao

Carolina Gracia-Diaz; Yijing Zhou; Qian Yang; Reza Maroofian; Paula Espana-Bonilla; Chul-Hwan Lee; Shuo Zhang; Natàlia Padilla; Raquel Fueyo; Elisa A. Waxman; Sunyimeng Lei; Garrett Otrimski; Dong Li; Sarah E. Sheppard; Paul Mark; Margaret H. Harr; Hakon Hakonarson; Lance Rodan; Adam Jackson; Pradeep Vasudevan; Corrina Powel; Shehla Mohammed; Sateesh Maddirevula; Hamad Alzaidan; Eissa A. Faqeih; Stephanie Efthymiou; Valentina Turchetti; Fatima Rahman; Shazia Maqbool; Vincenzo Salpietro; Shahnaz H. Ibrahim; Gabriella di Rosa; Henry Houlden; Maha Nasser Alharbi; Nouriya Abbas Al-Sannaa; Peter Bauer; Giovanni Zifarelli; Conchi Estaras; Anna C. E. Hurst; Michelle L. Thompson; Anna Chassevent; Constance L. Smith-Hicks; Xavier de la Cruz; Alexander M. Holtz; Houda Zghal Elloumi; M J Hajianpour; Claudine Rieubland; Dominique Braun; Siddharth Banka; J. C. Ambrose; P. Arumugam; R. Bevers; M. Bleda; F. Boardman-Pretty; C. R. Boustred; H. Brittain; M. A. Brown; M. J. Caulfield; G. C. Chan; A. Giess; J. N. Griffin; A. Hamblin; S. Henderson; T. J. P. Hubbard; R. Jackson; L. J. Jones; D. Kasperaviciute; M. Kayikci; A. Kousathanas; L. Lahnstein; A. Lakey; S. E. A. Leigh; I. U. S. Leong; F. J. Lopez; F. Maleady-Crowe; M. McEntagart; F. Minneci; J. Mitchell; L. Moutsianas; M. Mueller; N. Murugaesu; A. C. Need; P. O’Donovan; C. A. Odhams; C. Patch; D. Perez-Gil; M. B. Pereira; J. Pullinger; T. Rahim; A. Rendon; T. Rogers; K. Savage; K. Sawant; R. H. Scott; A. Siddiq; A. Sieghart; S. C. Smith; A. Sosinsky; A. Stuckey; M. Tanguy; A. L. Taylor Tavares; E. R. A. Thomas; S. R. Thompson; A. Tucci; M. J. Welland; E. Williams; K. Witkowska; S. M. Wood; M. Zarowiecki; Deborah L. French; Elizabeth A. Heller; Murielle Saade; Hongjun Song; Guo-li Ming; Fowzan S. Alkuraya; Pankaj B. Agrawal; Danny Reinberg; Elizabeth J. Bhoj; Marian A. Martínez-Balbás; Naiara Akizu

Nat Commun
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Nature Communications, Vol 14, Iss 1, Pp 1-18 (2023)
Gracia-Diaz, Carolina; Zhou, Yijing; Yang, Qian; Maroofian, Reza; Espana-Bonilla, Paula; Lee, Chul-Hwan; Zhang, Shuo; Padilla, Natàlia; Fueyo, Raquel; Waxman, Elisa A; Lei, Sunyimeng; Otrimski, Garrett; Li, Dong; Sheppard, Sarah E; Mark, Paul; Harr, Margaret H; Hakonarson, Hakon; Rodan, Lance; Jackson, Adam; Vasudevan, Pradeep; ... (2023). Gain and loss of function variants in EZH1 disrupt neurogenesis and cause dominant and recessive neurodevelopmental disorders. Nature Communications, 14(1), p. 4109. Springer Nature 10.1038/s41467-023-39645-5
Genomic England Research Consortium 2023, 'Gain and loss of function variants in EZH1 disrupt neurogenesis and cause dominant and recessive neurodevelopmental disorders', Nature Communications, vol. 14, no. 1, 4109. https://doi.org/10.1038/s41467-023-39645-5
Nature communications

Aida M. Bertoli‐Avella; Krishna Kumar Kandaswamy; Suliman Khan; Natalia Ordonez‐Herrera; Kornélia Tripolszki; Christian Beetz; María Eugenia Rocha; Alize Urzi; Ronja Hotakainen; Anika Leubauer; Ruslan Al‐Ali; Vasiliki Karageorgou; Oana Moldovan; Patrícia Dias; Amal Alhashem; Brahim Tabarki; Mohammed Albalwi; Abdulrahman Alswaid; Zuhair N. Al‐Hassnan; Malak Alghamdi; Zahra Hadipour; Fatemeh Hadipour; Nadia Al Hashmi; Lihadh Al‐Gazali; Huma Arshad Cheema; Maha S. Zaki; Irina Hüning; Ahmed Alfares; Wafaa Eyaid; Fuad Al Mutairi; Majid Alfadhel; Fowzan S. Alkuraya; Nouriya Al‐Sannaa; Aisha M. Al‐Shamsi; Najim Ameziane; Arndt Rolfs; Péter Bauer

Genet Med

Lin, Y-C; Niceta, M; Muto, V; Vona, B; Pagnamenta, AT; Maroofian, R; Beetz, C; van Duyvenvoorde, H; Dentici, ML; Lauffer, P; Vallian, S; Ciolfi, A; Pizzi, S; Bauer, P; Grüning, N-M; Bellacchio, E; Del Fattore, A; Petrini, S; Shaheen, R; Tiosano, D; Halloun, R; Pode-Shakked, B; Albayrak, HM; Işık, E; Wit, JM; Dittrich, M; Freire, BL; Bertola, DR; Jorge, AAL; Barel, O; Sabir, AH; Al Tenaiji, AMJ; Taji, SM; Al-Sannaa, N; Al-Abdulwahed, H; Digilio, MC; Irving, M; Anikster, Y; Bhavani, GSL; Girisha, KM; Haaf, T; Taylor, JC; Dallapiccola, B; Alkuraya, FS; Yang, R-B; Tartaglia, M

The American Journal of Human Genetics. 108:115-133

Kelsey L, Watson; Ghadah A, Al Sannaa; Christine M, Kivlin; Davis R, Ingram; Sharon M, Landers; Christina L, Roland; Janice N, Cormier; Kelly K, Hunt; Barry W, Feig; B, Ashleigh Guadagnolo; Andrew J, Bishop; Wei-Lien, Wang; John M, Slopis; Ian E, McCutcheon; Alexandar J, Lazar; Keila E, Torres

Journal of Neurosurgery. 126:319-329

Twigg SRF; Lloyd D; Jenkins D; Elcioglu NE; Cooper CDO; Al-Sannaa N; Annagur A; Gillessen-Kaesbach G; Huning I; Knight SJL; Goodship JA; Keavney BD; Beales PL; Gileadi O; McGowan SJ; Wilkie AOM

The American Journal of Human Genetics; Vol 91
Twigg, S R F, Lloyd, D, Jenkins, D, Elçioglu, N E, Cooper, C D O, Al-Sannaa, N, Annagür, A, Gillessen-Kaesbach, G, Hüning, I, Knight, S J L, Goodship, J A, Keavney, B D, Beales, P L, Gileadi, O, McGowan, S J & Wilkie, A O M 2012, 'Mutations in multidomain protein MEGF8 identify a carpenter syndrome subtype associated with defective lateralization', American Journal of Human Genetics, vol. 91, no. 5, pp. 897-905. https://doi.org/10.1016/j.ajhg.2012.08.027
American Journal of Human Genetics

Lin, Y.C.; Niceta, M.; Muto, V.; Vona, B.; Pagnamenta, A.T.; Maroofian, R.; Beetz, C.; Duyvenvoorde, H. van; Dentici, M.L.; Lauffer, P.; Vallian, S.; Ciolfi, A.; Pizzi, S.; Bauer, P.; Gruning, N.M.; Bellacchio, E.; Fattore, A. del; Petrini, S.; Shaheen, R.; Tiosano, D.; Halloun, R.; Pode-Shakked ben; Albayrak, H.M.; Isik, E.; Wit, J.M.; Dittrich, M.; Freire, B.L.; Bertola, D.R.; Jorge, A.A.L.; Barel, O.; Sabir, A.H.; Tenaiji, A.M.J. al; Taji, S.M.; Al-Sannaa, N.; Al-Abdulwahed, H.; Digilio, M.C.; Irving, M.; Anikster, Y.; Bhavani, G.S.L.; Girisha, K.M.; Haaf, T.; Taylor, J.C.; Dallapiccola, B.; Alkuraya, F.S.; Yang, R.B.; Tartaglia, M.; Genomics England Res Consortium

Ghadah, Al Sannaa; Kelsey L, Watson; Adriana, Olar; Wei-Lien, Wang; Gregory N, Fuller; Ian, McCutcheon; Keila E, Torres; Alexander J, Lazar

Annals of Surgical Oncology. 23:962-967

Saffari A; Department of Neurology, Boston Children's Hospital, Harvard Medical School, Boston, MA, USA.; Division of Child Neurology and Inherited Metabolic Diseases, Heidelberg University Hospital, Heidelberg, Germany.; Lau T; Department of Neuromuscular Diseases, Queen Square Institute of Neurology, University College London, London, UK.; Tajsharghi H; School of Health Sciences, Division of Biomedicine, University of Skovde, Skovde, Sweden.; Karimiani EG; Molecular and Clinical Sciences Institute, St. George's, University of London, Cranmer Terrace, London, UK.; Department of Medical Genetics, Next Generation Genetic Polyclinic, Mashhad, Iran.; Kariminejad A; Kariminejad-Najmabadi Pathology & Genetics Center, Tehran, Iran.; Efthymiou S; Department of Neuromuscular Diseases, Queen Square Institute of Neurology, University College London, London, UK.; Zifarelli G; CENTOGENE GmbH, Am Strande 7, 18055 Rostock, Germany.; Sultan T; Department of Neuromuscular Diseases, Queen Square Institute of Neurology, University College London, London, UK.; Toosi MB; Department of Pediatrics, School of Medicine, Mashhad University of Medical Sciences, Mashhad, Iran.; Neuroscience Research Center, Mashhad University of Medical Sciences, Mashhad, Iran.; Sedighzadeh S; Department of Biological Sciences, Faculty of Science, Shahid Chamran University of Ahvaz, Ahvaz, Iran.; KaryoGen, Isfahan, Iran.; Siu VM; Division of Medical Genetics, Department of Pediatrics, Schulich School of Medicine and Dentistry, Western University, London, ON, Canada.; Ortigoza-Escobar JD; Movement Disorders Unit, Pediatric Neurology Department, Institut de Recerca, Hospital Sant Joan de Déu Barcelona, Barcelona, Spain.; AlShamsi AM; Genetic Division, Pediatrics Department, Tawam Hospital, Al Ain, UAE.; Ibrahim S; Department of pediatrics and child Health, Aga Khan University, Karachi, Pakistan.; Al-Sannaa NA; Pediatric Services, John Hopkins Aramco Health Care, Dhahran, Saudi Arabia.; Al-Hertani W; Harvard Medical School, Boston Children's Hospital, Department of Pediatrics, Division of Genetics and Genomics, Boston, MA, USA.; Sandra W; APHP UF de Génétique Clinique, Centre de Référence des Anomalies du Développement et Syndromes Malformatifs, APHP, Hôpital Armand Trousseau, ERN ITHACA, Sorbonne Université, Paris, France.; Tarnopolsky M; Department of Pediatrics (MT - Neuromuscular and Neurometabolics, CL - Medical Genetics), McMaster Children's Hospital, Hamilton, Ontario, Canada.; Alavi S; Department of Neuromuscular Diseases, Queen Square Institute of Neurology, University College London, London, UK.; Li C; Department of Pediatrics (MT - Neuromuscular and Neurometabolics, CL - Medical Genetics), McMaster Children's Hospital, Hamilton, Ontario, Canada.; Day-Salvatore DL; The Department of Medical Genetics and Genomic Medicine at Saint Peter's University Hospital, New Brunswick, NJ, USA.; Martínez-González MJ; Pediatric Neurology Unit, Cruces University Hospital, Barakaldo, Vizcaya, Spain.; Levandoski KM; The Department of Medical Genetics and Genomic Medicine at Saint Peter's University Hospital, New Brunswick, NJ, USA.; Bedoukian E; Roberts Individualized Medical Genetics Center, Children's Hospital of Philadelphia, Philadelphia, PA, USA.; Madan-Khetarpal S; Division of Genetic and Genomic Medicine, Department of Pediatrics, UPMC Children's Hospital of Pittsburgh, Pittsburgh, Pennsylvania, USA.; Idleburg MJ; Division of Genetic and Genomic Medicine, Department of Pediatrics, UPMC Children's Hospital of Pittsburgh, Pittsburgh, Pennsylvania, USA.; Menezes MJ; Department of Anaesthesia, the Children's Hospital at Westmead, Sydney, NSW, Australia.; Discipline of Child and Adolescent Health, and Specialty of Genomic Medicine, Sydney Medical School, Sydney University, Sydney, NSW, Australia.; Siddharth A; Harvard Medical School, Boston Children's Hospital, Department of Pediatrics, Division of Genetics and Genomics, Boston, MA, USA.; Platzer K; Institute of Human Genetics, University of Leipzig Medical Center, Leipzig, Germany.; Oppermann H; Institute of Human Genetics, University of Leipzig Medical Center, Leipzig, Germany.; Smitka M; Department of Neuropediatrics, Medical Faculty Carl Gustav Carus, Technical University Dresden, Dresden, Germany.; Collins F; Discipline of Child and Adolescent Health, and Specialty of Genomic Medicine, Sydney Medical School, Sydney University, Sydney, NSW, Australia.; Department of Clinical Genetics, Children's Hospital at Westmead, Sydney, NSW, Australia.; Lek M; Department of Genetics, Yale School of Medicine, New Haven, Connecticut, USA.; Shahrooei M; Medical Laboratory of Dr. Shahrooei, Tehran, Iran.; Department of Microbiology and Immunology, Clinical and Diagnostic Immunology, KU Leuven, Leuven, Belgium.; Ghavideldarestani M; Medical Laboratory of Dr. Shahrooei, Tehran, Iran.; Herman I; Section of Pediatric Neurology and Developmental Neuroscience, Department of Pediatrics, Baylor College of Medicine, Houston, TX, USA.; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX, USA.; Texas Children's Hospital, Houston, TX, USA.; Division of Pediatric Neuroscience, Boys Town National Research Hospital, Boys Town, NE, USA.; Rendu J; Univ. Grenoble Alpes, Inserm, U1216, CHU Grenoble Alpes, Grenoble Institut Neurosciences, Grenoble, France.; Faure J; Univ. Grenoble Alpes, Inserm, U1216, CHU Grenoble Alpes, Grenoble Institut Neurosciences, Grenoble, France.; Baker J; Division of Genetics and Genomic Medicine, Children's Hospital and Clinics of Minnesota, Minneapolis, Minnesota, USA.; Bhambhani V; Division of Genetics and Genomic Medicine, Children's Hospital and Clinics of Minnesota, Minneapolis, Minnesota, USA.; Calderwood L; Lucile Packard Children's Hospital Stanford, Palo Alto, CA, USA.; Department of Pediatrics, Division of Medical Genetics, Stanford University School of Medicine, Stanford, CA, USA.; Akhondian J; Pediatric Neurology Department, Ghaem Hospital, Mashhad University of Medical Sciences, Mashhad, Iran.; Imannezhad S; Department of Pediatric Neurology, Faculty of Medicine, Mashhad University of Medical Sciences, Mashhad, Iran.; Mirzadeh HS; Department of Pediatric Neurology, Faculty of Medicine, Mashhad University of Medical Sciences, Mashhad, Iran.; Hashemi N; Department of Pediatrics, School of Medicine, Mashhad University of Medical Sciences, Mashhad, Iran.; Doosti M; Department of Medical Genetics, Next Generation Genetic Polyclinic, Mashhad, Iran.; Safi M; Department of Medical Genetics, Next Generation Genetic Polyclinic, Mashhad, Iran.; Ahangari N; Innovative medical research centre, Mashhad branch, Islamic Azad University, Mashhad, Iran.; Torbati PN; Department of Medical Genetics, Next Generation Genetic Polyclinic, Mashhad, Iran.; Abedini S; Department of Neuromuscular Diseases, Queen Square Institute of Neurology, University College London, London, UK.; Salpietro V; Department of Neuromuscular Diseases, Queen Square Institute of Neurology, University College London, London, UK.; Gulec EY; Istanbul Medeniyet University Medical School, Department of Medical Genetics, Istanbul, Turkey.; Eshaghian S; Isfahan Fertility and Infertility Center, Isfahan, Iran.; Ghazavi M; Department of Pediatric Neurology, Imam Hossein Children's Hospital, Isfahan University of Medical Sciences, Isfahan, Iran.; Pascher MT; Friedrich-Baur-Institute at the Department of Neurology, University Hospital, LMU Munich, Munich, Germany.; Vogel M; Friedrich-Baur-Institute at the Department of Neurology, University Hospital, LMU Munich, Munich, Germany.; Deutsches Krebsforschungszentrum, Heidelberg, Germany.; Abicht A; Friedrich-Baur-Institute at the Department of Neurology, University Hospital, LMU Munich, Munich, Germany.; Medizinisch Genetisches Zentrum, Munich, German.; Moutton S; Multidisciplinary Center for Prenatal Diagnosis, Pôle Mère Enfant, Maison de Santé Protestante Bordeaux Bagatelle, Talence, France.; Bruel AL; Équipe Génétique des Anomalies du Développement (GAD), INSERM UMR1231, Dijon, France.; Unité Fonctionnelle Innovation en Diagnostic génomique des maladies rares, FHU-TRANSLAD, Dijon University Hospital, Dijon, France.; Rieubland C; Division of Human Genetics, Department of Pediatrics, Inselspital, University of Bern, Switzerland.; Gallati S; Division of Human Genetics, Department of Pediatrics, Inselspital, University of Bern, Switzerland.; Strom TM; Institute of Human Genetics, Klinikum rechts der Isar, Technical University Munich, Munich, Germany.; Lochmüller H; Children's Hospital of Eastern Ontario Research Institute, University of Ottawa, Ottawa, Canada.; Division of Neurology, Department of Medicine, The Ottawa Hospital, Ottawa, Canada.; Mohammadi MH; Department of pediatrics, Zabol University of medical sciences, Zabol, Iran.; Alvi JR; Department of Pediatric Neurology, The Children's Hospital and the University of Child Health Sciences, Lahore, Pakistan.; Zackai EH; Division of Human Genetics, Children's Hospital of Philadelphia, University of Pennsylvania School of Medicine, Philadelphia, PA, USA.; Keena BA; Division of Human Genetics, Children's Hospital of Philadelphia, University of Pennsylvania School of Medicine, Philadelphia, PA, USA.; Skraban CM; Division of Human Genetics, Children's Hospital of Philadelphia, University of Pennsylvania School of Medicine, Philadelphia, PA, USA.; Berger SI; Children's National Research Institute, Washington DC, USA.; Andrew EH; Children's National Research Institute, Washington DC, USA.; Rahimian E; Haghighat Medical Imaging center-Tehran, Tehran, Iran.; Morrow MM; GeneDx, Gaithersburg, MD, USA.; Wentzensen IM; GeneDx, Gaithersburg, MD, USA.; Millan F; GeneDx, Gaithersburg, MD, USA.; Henderson LB; GeneDx, Gaithersburg, MD, USA.; Dafsari HS; Department of Pediatrics, Faculty of Medicine and University Hospital Cologne, University of Cologne, Cologne, Germany.; Max-Planck-Institute for Biology of Ageing and CECAD, Cologne, Germany.; Department of Paediatric Neurology - Neuromuscular Service, Evelina London Children's Hospital, Guy's & St Thomas' Hospital NHS Foundation Trust, London, UK.; Jungbluth H; Department of Paediatric Neurology - Neuromuscular Service, Evelina London Children's Hospital, Guy's & St Thomas' Hospital NHS Foundation Trust, London, UK.; Randall Centre for Cell and Molecular Biophysics, Muscle Signalling Section, Faculty of Life Sciences and Medicine (FoLSM), King's College London, London, UK.; Gomez-Ospina N; Department of Pediatrics, Stanford University, Stanford, CA, USA.; McRae A; Division of Genetics, Genomics, and Metabolism, Ann and Robert H. Lurie Children's Hospital of Chicago, Chicago, USA.; Peter M; Division of Genetics, Genomics, and Metabolism, Ann and Robert H. Lurie Children's Hospital of Chicago, Chicago, USA.; Veltra D; Laboratory of Medical Genetics, Medical School, National and Kapodistrian University of Athens, St. Sophia's Children's Hospital, Athens, Greece.; Marinakis NM; Laboratory of Medical Genetics, Medical School, National and Kapodistrian University of Athens, St. Sophia's Children's Hospital, Athens, Greece.; Sofocleous C; Laboratory of Medical Genetics, Medical School, National and Kapodistrian University of Athens, St. Sophia's Children's Hospital, Athens, Greece.; Ashrafzadeh F; Department of Pediatric Neurology, Faculty of Medicine, Mashhad University of Medical Sciences, Mashhad, Iran.; Pehlivan D; Section of Pediatric Neurology and Developmental Neuroscience, Department of Pediatrics, Baylor College of Medicine, Houston, TX, USA.; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX, USA.; Texas Children's Hospital, Houston, TX, USA.; Lemke JR; Institute of Human Genetics, University of Leipzig Medical Center, Leipzig, Germany.; Center for Rare Diseases, University of Leipzig Medical Center, Leipzig, Germany.; Melki J; Institut National de la Santé et de la Recherche Médicale (Inserm), UMR-1195, Université Paris Saclay, Le Kremlin Bicêtre, 94276, Paris, France.; Benezit A; Neurologie et réanimation pédiatrique, Hôpital Raymond Poincaré, APHP, Garches, France.; Bauer P; CENTOGENE GmbH, Am Strande 7, 18055 Rostock, Germany.; Weis D; Department of Medical Genetics, Kepler University Hospital, Johann Kepler University, Linz, Austria.; Lupski JR; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX, USA.; Texas Children's Hospital, Houston, TX, USA.; Human Genome Sequencing Center, Baylor College of Medicine, Houston, TX, USA.; Department of Pediatrics, Baylor College of Medicine, Houston, TX, USA.; Senderek J; Friedrich-Baur-Institute at the Department of Neurology, University Hospital, LMU Munich, Munich, Germany.; Christodoulou J; Discipline of Child and Adolescent Health, and Specialty of Genomic Medicine, Sydney Medical School, Sydney University, Sydney, NSW, Australia.; Murdoch Children's Research Institute, Melbourne and Department of Paediatrics, Melbourne Medical School, University of Melbourne, Melbourne, VIC, Australia.; Chung WK; Department of Pediatrics and Medicine, Columbia University New York, NY, USA.; Goodchild R; KU Leuven Department of Neurosciences, Leuven Brain Institute, Leuven, Belgium.; VIB-KU Leuven Center for Brain and Disease Research, Laboratory for Dystonia Research, Leuven, Belgium.; Offiah AC; Department of Oncology & Metabolism, University of Sheffield, UK.; Moreno-De-Luca A; Autism & Developmental Medicine Institute, Genomic Medicine Institute, Department of Radiology, Diagnostic Medicine Institute, Geisinger, Danville, PA, USA.; Suri M; Clinical Genetics Service, Nottingham University Hospitals NHS Trust, Nottingham, UK.; Ebrahimi-Fakhari D; Department of Neurology, Boston Children's Hospital, Harvard Medical School, Boston, MA, USA.; Movement Disorders Program, Department of Neurology, Boston Children's Hospital, Harvard Medical School, Boston, MA, USA.; The Manton Center for Orphan Disease Research, Boston Children's Hospital, Boston, MA, USA.; Intellectual and Developmental Disabilities Research Center, Boston Children's Hospital, Boston, MA, USA.; Houlden H; Department of Neuromuscular Diseases, Queen Square Institute of Neurology, University College London, London, UK.; Maroofian R; Department of Neuromuscular Diseases, Queen Square Institute of Neurology, University College London, London, UK.

Publisher: Oxford University Press Country of Publication: England NLM ID: 0372537 Publication Model: Print Cited Medium: Internet ISSN: 1460-2156 (Electronic) Linking ISSN: 00068950 NLM ISO Abbreviation: Brain Subsets: MEDLINE

Tangeraas T; Paediatric and Adolescent Medicine, Oslo University Hospital, 0424 Oslo, Norway.; European Reference Network for Hereditary Metabolic Diseases (MetabERN).; Constante JR; European Reference Network for Hereditary Metabolic Diseases (MetabERN).; Neurometabolic Unit and Synaptic Metabolism Laboratory, Department of Neurology, Sant Joan de Déu Hospital, IPR, Barcelona 08950, Spain.; Centro de Investigación Biomédica en Red de Enfermedades Raras (CIBERER), Instituto de Salud Carlos III, Madrid 28029, Spain.; Backe PH; European Reference Network for Hereditary Metabolic Diseases (MetabERN).; Department of Medical Biochemistry, Oslo University Hospital-Rikshospitalet, PO Box 4950 Nydalen, OUS HF Rikshospitalet, 0424 Oslo, Norway.; Department of Microbiology, Clinic for Diagnostics and Intervention, Oslo University Hospital, Rikshospitalet, Nydalen, N-0424 Oslo, Norway.; Oyarzábal A; European Reference Network for Hereditary Metabolic Diseases (MetabERN).; Neurometabolic Unit and Synaptic Metabolism Laboratory, Department of Neurology, Sant Joan de Déu Hospital, IPR, Barcelona 08950, Spain.; Centro de Investigación Biomédica en Red de Enfermedades Raras (CIBERER), Instituto de Salud Carlos III, Madrid 28029, Spain.; Neugebauer J; European Reference Network for Hereditary Metabolic Diseases (MetabERN).; Department of Pediatric Gastroenterology, Nephrology and Metabolic Medicine, Charité-Universitätsmedizin Berlin, Berlin 13353, Germany.; Center for Chronically Sick Children, Charité-Universitätsmedizin Berlin, Berlin 13353, Germany.; Weinhold N; European Reference Network for Hereditary Metabolic Diseases (MetabERN).; Department of Pediatric Gastroenterology, Nephrology and Metabolic Medicine, Charité-Universitätsmedizin Berlin, Berlin 13353, Germany.; Center for Chronically Sick Children, Charité-Universitätsmedizin Berlin, Berlin 13353, Germany.; Boemer F; European Reference Network for Hereditary Metabolic Diseases (MetabERN).; Biochemical Genetics Laboratory, Human Genetics, CHU of Liege, University of Liège, Liège 4000, Belgium.; Debray FG; European Reference Network for Hereditary Metabolic Diseases (MetabERN).; Department of Human Genetics, CHU of Liege, University of Liège, Liège 4000, Belgium.; Ozturk-Hism B; Department of Pediatric Metabolic Diseases, Marmara University School of Medicine, Istanbul 34854, Turkey.; Evren G; Department of Medical Genetics, University of Harran, 63000 Sanliurfa, Turkey.; Tuba EF; Department of Pediatric Metabolism, Ankara University School of Medicine, 06100 Ankara, Turkey.; Ummuhan O; Department of Pediatric Metabolism, Ankara University School of Medicine, 06100 Ankara, Turkey.; Footitt E; European Reference Network for Hereditary Metabolic Diseases (MetabERN).; Department of Metabolic Medicine, Great Ormond Street Hospital for Children, London WC1N 3JH, UK.; NIHR Great Ormond Street Hospital Biomedical Research Centre (NIHR GOSH BRC), London WC1N 3JH, UK.; Davison J; European Reference Network for Hereditary Metabolic Diseases (MetabERN).; Department of Metabolic Medicine, Great Ormond Street Hospital for Children, London WC1N 3JH, UK.; NIHR Great Ormond Street Hospital Biomedical Research Centre (NIHR GOSH BRC), London WC1N 3JH, UK.; Martinez C; Department of Pediatrics and Psychiatry, The Mount Sinai Hospital, New York, NY 1468, USA.; Bueno C; Department of Neurology, Clinical Hospital of the Faculty of Medicine, University of São Paulo, São Paulo 05403-010, Brazil.; Machado I; Neuropediatric Department, Hospital Universitario Clínico San Cecilio, Granada 18016, Spain.; Rodríguez-Pombo P; Centro de Diagnóstico de Enfermedades Moleculares, Centro de Biología Molecular Severo Ochoa, CBM-CSIC, Departamento de Biología Molecular, Institute for Molecular Biology-IUBM, Universidad Autónoma Madrid, CIBERER, IDIPAZ, 28049 Madrid, Spain.; Al-Sannaa N; Pediatric Services Division, Johns Hopkins Aramco Healthcare, Dhahran 34465, Saudi Arabia.; De Los Santos M; European Reference Network for Hereditary Metabolic Diseases (MetabERN).; Centro de Investigación Biomédica en Red de Enfermedades Raras (CIBERER), Instituto de Salud Carlos III, Madrid 28029, Spain.; Neurometabolic Unit, Department of Gastroenterology and Nutrition, Sant Joan de Déu Hospital, Barcelona 08950, Spain.; López JM; Institut de Recerca Sant Joan de Déu, Pediatric Radiology Department Esplugues de Llobregat, Hospital Sant Joan de Déu, 08950 Barcelona, Spain.; Ozturkmen-Akay H; Department of Radiology, Baskent University School of Medicine, Ankara 06790, Turkey.; Karaca M; Department of Pediatric Metabolic Diseases, University of Harran, Sanliurfa 63000, Turkey.; Tekin M; Dr. John T. Macdonald Foundation Department of Human Genetics and John P.Hussman Institute for Human Genomics, University of Miami Miller School of Medicine, Miami, FL 33136, USA.; Pajares S; Centro de Investigación Biomédica en Red de Enfermedades Raras (CIBERER), Instituto de Salud Carlos III, Madrid 28029, Spain.; Section of Inborn Errors of Metabolism-IBC, Department of Biochemistry and Molecular Genetics, Hospital Clínic, Barcelona 08036, Spain.; Ormazabal A; European Reference Network for Hereditary Metabolic Diseases (MetabERN).; Centro de Investigación Biomédica en Red de Enfermedades Raras (CIBERER), Instituto de Salud Carlos III, Madrid 28029, Spain.; Department of Clinical Biochemistry, Sant Joan de Déu Hospital, Barcelona 08950, Spain.; Stoway SD; Norwegian National Unit for Newborn Screening, Division of Paediatric and Adolescent Medicine, Oslo University Hospital, Oslo 0424, Norway.; Biochemical Genetics Laboratory, Department of Laboratory Medicine and Pathology, Mayo Clinic, Rochester, NY 55905, USA.; Artuch R; European Reference Network for Hereditary Metabolic Diseases (MetabERN).; Centro de Investigación Biomédica en Red de Enfermedades Raras (CIBERER), Instituto de Salud Carlos III, Madrid 28029, Spain.; Department of Clinical Biochemistry, Sant Joan de Déu Hospital, Barcelona 08950, Spain.; Dixon M; European Reference Network for Hereditary Metabolic Diseases (MetabERN).; Dietetics, Great Ormond Street Hospital for Children, NHS Foundation Trust, London WC1N, 3JH, UK.; Mørkrid L; European Reference Network for Hereditary Metabolic Diseases (MetabERN).; Department of Medical Biochemistry, Oslo University Hospital-Rikshospitalet, PO Box 4950 Nydalen, OUS HF Rikshospitalet, 0424 Oslo, Norway.; Institute of Clinical Medicine, University of Oslo, Nydalen, Oslo 0424, Norway.; García-Cazorla A; European Reference Network for Hereditary Metabolic Diseases (MetabERN).; Neurometabolic Unit and Synaptic Metabolism Laboratory, Department of Neurology, Sant Joan de Déu Hospital, IPR, Barcelona 08950, Spain.; Centro de Investigación Biomédica en Red de Enfermedades Raras (CIBERER), Instituto de Salud Carlos III, Madrid 28029, Spain.

Publisher: Oxford University Press Country of Publication: England NLM ID: 0372537 Publication Model: Print Cited Medium: Internet ISSN: 1460-2156 (Electronic) Linking ISSN: 00068950 NLM ISO Abbreviation: Brain Subsets: MEDLINE

H. Yavuz; A.M. Bertoli‐Avella; M. Alfadhel; N. Al‐Sannaa; K.K. Kandaswamy; W. Al‐Tuwaijri; A. Rolfs; O. Brandau; P. Bauer

Clinical Genetics. 94:393-395

Christina L, Roland; Caitlin D, May; Kelsey L, Watson; Ghadah A, Al Sannaa; Sean P, Dineen; Rachel, Feig; Sharon, Landers; Davis R, Ingram; Wei-Lien, Wang; B Ashleigh, Guadagnolo; Barry, Feig; Kelly K, Hunt; Janice N, Cormier; Alexander J, Lazar; Keila E, Torres

Annals of Surgical Oncology. 23:2220-2228

Anas M. Alazami; Nisha Patel; Hanan E. Shamseldin; Shamsa Anazi; Mohammed S. Al-Dosari; Fatema Alzahrani; Hadia Hijazi; Muneera Alshammari; Mohammed A. Aldahmesh; Mustafa A. Salih; Eissa Faqeih; Amal Alhashem; Fahad A. Bashiri; Mohammed Al-Owain; Amal Y. Kentab; Sameera Sogaty; Saeed Al Tala; Mohamad-Hani Temsah; Maha Tulbah; Rasha F. Aljelaify; Saad A. Alshahwan; Mohammed Zain Seidahmed; Adnan A. Alhadid; Hesham Aldhalaan; Fatema AlQallaf; Wesam Kurdi; Majid Alfadhel; Zainab Babay; Mohammad Alsogheer; Namik Kaya; Zuhair N. Al-Hassnan; Ghada M.H. Abdel-Salam; Nouriya Al-Sannaa; Fuad Al Mutairi; Heba Y. El Khashab; Saeed Bohlega; Xiaofei Jia; Henry C. Nguyen; Rakad Hammami; Nouran Adly; Jawahir Y. Mohamed; Firdous Abdulwahab; Niema Ibrahim; Ewa A. Naim; Banan Al-Younes; Brian F. Meyer; Mais Hashem; Ranad Shaheen; Yong Xiong; Mohamed Abouelhoda; Abdulrahman A. Aldeeri; Dorota M. Monies; Fowzan S. Alkuraya

Cell Reports, Vol 10, Iss 2, Pp 148-161 (2015)

N, Al-Sannaa; C R, Forrest; A S, Teebi

American Journal of Medical Genetics. 101:279-282

Medico Salsench E; Department of Clinical Genetics, Erasmus MC University Medical Center, Rotterdam, The Netherlands.; Maroofian R; Department of Neuromuscular Disorders, UCL Queen Square Institute of Neurology, London WC1N 3BG, UK.; Deng R; Department of Clinical Genetics, Erasmus MC University Medical Center, Rotterdam, The Netherlands.; Lanko K; Department of Clinical Genetics, Erasmus MC University Medical Center, Rotterdam, The Netherlands.; Nikoncuk A; Department of Clinical Genetics, Erasmus MC University Medical Center, Rotterdam, The Netherlands.; Pérez B; Centro de Diagnóstico de Enfermedades Moleculares. Centro de Biología Molecular, Universidad Autonoma de Madrid, CIBER Enfermedades Raras, IdiPAZ, Madrid, Spain.; Sánchez-Lijarcio O; Centro de Diagnóstico de Enfermedades Moleculares. Centro de Biología Molecular, Universidad Autonoma de Madrid, CIBER Enfermedades Raras, IdiPAZ, Madrid, Spain.; Ibáñez-Mico S; Pediatric Neurology Unit, Arrixaca Universitary Hospital, Murcia, Spain.; Wojcik A; Gillette Children's Specialty Healthcare, St. Paul, MN 55101, USA.; Vargas M; Gillette Children's Specialty Healthcare, St. Paul, MN 55101, USA.; Abbas Al-Sannaa N; John Hopkins Aramco Health Care, Pediatric Services, Dhahran, Saudi Arabia.; Girgis MY; Pediatric Department, Children's Hospital, Cairo University, Cairo, Egypt.; Silveira TRD; CENTOGENE, GmbH, 18055 Rostock, Germany.; Bauer P; CENTOGENE, GmbH, 18055 Rostock, Germany.; Schroeder A; Division of Medical Genetics, University of Rochester Medical Center, Rochester, NY 14642, USA.; Fong CT; Departments of Pediatrics and of Medicine, University of Rochester Medical Center, Rochester, NY 14642, USA.; Begtrup A; GeneDx, Gaithersburg, MD 20877, USA.; Babaei M; Department of Pediatrics, North Khorasan University of Medical Sciences, Bojnurd, Iran.; Toosi MB; Department of Pediatrics, Faculty of Medicine, Mashhad University of Medical Sciences, Mashhad, Iran.; Ashrafzadeh F; Department of Pediatrics, Faculty of Medicine, Mashhad University of Medical Sciences, Mashhad, Iran.; Imannezhad S; Department of Pediatrics, Faculty of Medicine, Mashhad University of Medical Sciences, Mashhad, Iran.; Doosti M; Department of Medical Genetics, Next Generation Genetic Polyclinic, Mashhad, Iran.; Ahangari N; Department of Medical Genetics, Next Generation Genetic Polyclinic, Mashhad, Iran.; Najarzadeh Torbati P; Department of Medical Genetics, Next Generation Genetic Polyclinic, Mashhad, Iran.; Ghayoor Karimiani E; Department of Medical Genetics, Next Generation Genetic Polyclinic, Mashhad, Iran.; Molecular and Clinical Sciences Institute, St. George's, University of London, London SW17 0RE, UK.; Innovative Medical Research Center, Mashhad Branch, Islamic Azad University, Mashhad, Iran.; Murphy D; Department of Clinical and Movement Neurosciences, UCL Queen Square Institute of Neurology, University College London, UK.; Cali E; Department of Neuromuscular Disorders, UCL Queen Square Institute of Neurology, London WC1N 3BG, UK.; Kaya IH; College of Medicine, AlFaisal University, Riyadh, Kingdom of Saudi Arabia.; AlMuhaizea M; College of Medicine, AlFaisal University, Riyadh, Kingdom of Saudi Arabia.; Department of Neurosciences, King Faisal Specialist Hospital and Research Centre (KFSHRC), Riyadh, Kingdom of Saudi Arabia.; Colak D; Department of Biostatistics, Epidemiology and Scientific Computing, KFSHRC, Riyadh, Kingdom of Saudi Arabia.; Cardona-Londoño KJ; King Abdullah University of Science and Technology (KAUST), Computational Bioscience Research Center (CBRC), Division of Biological and Environmental Sciences and Engineering (BESE), Thuwal 23955-6900, Saudi Arabia.; Arold ST; King Abdullah University of Science and Technology (KAUST), Computational Bioscience Research Center (CBRC), Division of Biological and Environmental Sciences and Engineering (BESE), Thuwal 23955-6900, Saudi Arabia.; Centre de Biologie Structurale, CNRS, INSERM, Université de Montpellier, 34090 Montpellier, France.; Houlden H; Department of Neuromuscular Disorders, UCL Queen Square Institute of Neurology, London WC1N 3BG, UK.; Bertoli-Avella A; CENTOGENE, GmbH, 18055 Rostock, Germany.; Kaya N; Department of Translational Genomics, King Faisal Specialist Hospital and Research Centre, Riyadh 11211, Kingdom of Saudi Arabia.; Barakat TS; Department of Clinical Genetics, Erasmus MC University Medical Center, Rotterdam, The Netherlands.

Publisher: Oxford University Press Country of Publication: England NLM ID: 0372537 Publication Model: Print Cited Medium: Internet ISSN: 1460-2156 (Electronic) Linking ISSN: 00068950 NLM ISO Abbreviation: Brain Subsets: MEDLINE

Roland, Christina L.; Boland, Genevieve M.; Demicco, Elizabeth G.; Lusby, Kristelle; Ingram, Davis; May, Caitlin D.; Kivlin, Christine M.; Watson, Kelsey; Al Sannaa, Ghadah A.; Wang, Wei-Lien; Ravi, Vinod; Pollock, Raphael E.; Lev, Dina; Cormier, Janice N.; Hunt, Kelly K.; Feig, Barry W.; Lazar, Alexander J.; Torres, Keila E.

JAMA Surgery. Apr 01, 2016 151(4):347-354