부산대학교 도서관

Regan M, Shanahan; Joseph S, Hudson; Martin G, Piazza; Faith, Kehinde; Sharath Kumar, Anand; Damara, Ortiz; Suneeta, Madan-Khetarpal; Stephanie, Greene

Pediatric Neurosurgery. :1-12

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

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

Pena, Loren; Shashi, Vandana; Schoch, Kelly; Sullivan, Jennifer A.; Acosta, Maria T.; Adams, David R.; Aday, Aaron; Alejandro, Mercedes E.; Allard, Patrick; Ashley, Euan A.; Azamian, Mahshid S.; Bacino, Carlos A.; Bademci, Guney; Baker, Eva; Balasubramanyam, Ashok; Baldridge, Dustin; Barbouth, Deborah; Batzli, Gabriel F.; Beggs, Alan H.; Bellen, Hugo J.; Bernstein, Jonathan A.; Berry, Gerard T.; Bican, Anna; Bick, David P.; Birch, Camille L.; Bivona, Stephanie; Bonnenmann, Carsten; Bonner, Devon; Boone, Braden E.; Bostwick, Bret L.; Briere, Lauren C.; Brokamp, Elly; Brown, Donna M.; Brush, Matthew; Burke, Elizabeth A.; Burrage, Lindsay C.; Butte, Manish J.; Carrasquillo, Olveen; Peter Chang, Ta Chen; Chao, Hsiao-Tuan; Clark, Gary D.; Coakley, Terra R.; Cobban, Laurel A.; Cogan, Joy D.; Cole, F. Sessions; Colley, Heather A.; Cooper, Cynthia M.; Cope, Heidi; Craigen, William J.; D'Souza, Precilla; Dasari, Surendra; Davids, Mariska; Davidson, Jean M.; Dayal, Jyoti G.; Dell'Angelica, Esteban C.; Dhar, Shweta U.; Dorrani, Naghmeh; Dorset, Daniel C.; Douine, Emilie D.; Draper, David D.; Dries, Annika M.; Duncan, Laura; Eckstein, David J.; Emrick, Lisa T.; Eng, Christine M.; Enns, Gregory M.; Esteves, Cecilia; Estwick, Tyra; Fernandez, Liliana; Ferreira, Carlos; Fieg, Elizabeth L.; Fisher, Paul G.; Fogel, Brent L.; Forghani, Irman; Friedman, Noah D.; Gahl, William A.; Godfrey, Rena A.; Goldman, Alica M.; Goldstein, David B.; Gourdine, Jean-Philippe F.; Grajewski, Alana; Groden, Catherine A.; Gropman, Andrea L.; Haendel, Melissa; Hamid, Rizwan; Hanchard, Neil A.; High, Frances; Holm, Ingrid A.; Hom, Jason; Huang, Alden; Huang, Yong; Isasi, Rosario; Jamal, Fariha; Jiang, Yong-hui; Johnston, Jean M.; Jones, Angela L.; Karaviti, Lefkothea; Kelley, Emily G.; Koeller, David M.; Kohane, Isaac S.; Kohler, Jennefer N.; Krakow, Deborah; Krasnewich, Donna M.; Korrick, Susan; Koziura, Mary; Krier, Joel B.; Kyle, Jennifer E.; Lalani, Seema R.; Lam, Byron; Lanpher, Brendan C.; Lanza, Ian R.; Lau, C. Christopher; Lazar, Jozef; LeBlanc, Kimberly; Lee, Brendan H.; Lee, Hane; Levitt, Roy; Levy, Shawn E.; Lewis, Richard A.; Lincoln, Sharyn A.; Liu, Pengfei; Liu, Xue Zhong; Loo, Sandra K.; Loscalzo, Joseph; Maas, Richard L.; Macnamara, Ellen F.; MacRae, Calum A.; Maduro, Valerie V.; Majcherska, Marta M.; Malicdan, May Christine V.; Mamounas, Laura A.; Manolio, Teri A.; Markello, Thomas C.; Marom, Ronit; Martin, Martin G.; Martínez-Agosto, Julian A.; Marwaha, Shruti; May, Thomas; McCauley, Jacob; McConkie-Rosell, Allyn; McCormack, Colleen E.; McCray, Alexa T.; Merker, Jason D.; Metz, Thomas O.; Might, Matthew; Morava-Kozicz, Eva; Moretti, Paolo M.; Morimoto, Marie; Mulvihill, John J.; Murdock, David R.; Nath, Avi; Nelson, Stan F.; Newberry, J. Scott; Newman, John H.; Nicholas, Sarah K.; Novacic, Donna; Oglesbee, Devin; Orengo, James P.; Pak, Stephen; Pallais, J. Carl; Palmer, Christina GS.; Papp, Jeanette C.; Parker, Neil H.; Phillips, John A., III; Posey, Jennifer E.; Postlethwait, John H.; Potocki, Lorraine; Pusey, Barbara N.; Renteri, Genecee; Reuter, Chloe M.; Rives, Lynette; Robertson, Amy K.; Rodan, Lance H.; Rosenfeld, Jill A.; Rowley, Robb K.; Sacco, Ralph; Sampson, Jacinda B.; Samson, Susan L.; Saporta, Mario; Schaechter, Judy; Schedl, Timothy; Scott, Daryl A.; Shakachite, Lisa; Sharma, Prashant; Shields, Kathleen; Shin, Jimann; Signer, Rebecca; Sillari, Catherine H.; Silverman, Edwin K.; Sinsheimer, Janet S.; Smith, Kevin S.; Solnica-Krezel, Lilianna; Spillmann, Rebecca C.; Stoler, Joan M.; Stong, Nicholas; Sweetser, David A.; Tamburro, Cecelia P.; Tan, Queenie K.-G.; Tekin, Mustafa; Telischi, Fred; Thorson, Willa; Tifft, Cynthia J.; Toro, Camilo; Tran, Alyssa A.; Urv, Tiina K.; Vogel, Tiphanie P.; Waggott, Daryl M.; Wahl, Colleen E.; Walley, Nicole M.; Walsh, Chris A.; Walker, Melissa; Wambach, Jennifer; Wan, Jijun; Wang, Lee-kai; Wangler, Michael F.; Ward, Patricia A.; Waters, Katrina M.; Webb-Robertson, Bobbie-Jo M.; Wegner, Daniel; Westerfield, Monte; Wheeler, Matthew T.; Wise, Anastasia L.; Wolfe, Lynne A.; Woods, Jeremy D.; Worthey, Elizabeth A.; Yamamoto, Shinya; Yang, John; Yoon, Amanda J.; Yu, Guoyun; Zastrow, Diane B.; Zhao, Chunli; Zuchner, Stephan; Gahl, William; Johnson, Brett V. ; Kumar, Raman ; Oishi, Sabrina ; Alexander, Suzy ; Kasherman, Maria ; Vega, Michelle Sanchez ; Ivancevic, Atma ; Gardner, Alison ; Domingo, Deepti ; Corbett, Mark ; Parnell, Euan ; Yoon, Sehyoun ; Oh, Tracey ; Lines, Matthew ; Lefroy, Henrietta ; Kini, Usha ; Van Allen, Margot ; Grønborg, Sabine ; Mercier, Sandra ; Küry, Sébastien ; Bézieau, Stéphane ; Pasquier, Laurent ; Raynaud, Martine ; Afenjar, Alexandra ; Billette de Villemeur, Thierry ; Keren, Boris ; Désir, Julie ; Van Maldergem, Lionel ; Marangoni, Martina ; Dikow, Nicola ; Koolen, David A. ; VanHasselt, Peter M. ; Weiss, Marjan ; Zwijnenburg, Petra ; Sa, Joaquim ; Reis, Claudia Falcao ; López-Otín, Carlos ; Santiago-Fernández, Olaya ; Fernández-Jaén, Alberto ; Rauch, Anita ; Steindl, Katharina ; Joset, Pascal ; Goldstein, Amy ; Madan-Khetarpal, Suneeta ; Infante, Elena ; Zackai, Elaine ; Mcdougall, Carey ; Narayanan, Vinodh ; Ramsey, Keri ; Mercimek-Andrews, Saadet ; Pinto e Vairo, Filippo ; Pichurin, Pavel N. ; Ewing, Sarah A. ; Barnett, Sarah S. ; Klee, Eric W. ; Perry, M. Scott ; Koenig, Mary Kay ; Keegan, Catherine E. ; Schuette, Jane L. ; Asher, Stephanie ; Perilla-Young, Yezmin ; Smith, Laurie D. ; Bhoj, Elizabeth ; Kaplan, Paige ; Li, Dong ; Oegema, Renske ; van Binsbergen, Ellen ; van der Zwaag, Bert ; Smeland, Marie Falkenberg ; Cutcutache, Ioana ; Page, Matthew ; Armstrong, Martin ; Lin, Angela E. ; Steeves, Marcie A. ; Hollander, Nicolette den ; Hoffer, Mariëtte J.V. ; Reijnders, Margot R.F. ; Demirdas, Serwet ; Koboldt, Daniel C. ; Bartholomew, Dennis ; Mosher, Theresa Mihalic ; Hickey, Scott E. ; Shieh, Christine ; Sanchez-Lara, Pedro A. ; Graham, John M., Jr. ; Tezcan, Kamer ; Schaefer, G.B. ; Danylchuk, Noelle R. ; Asamoah, Alexander ; Jackson, Kelly E. ; Yachelevich, Naomi ; Au, Margaret ; Pérez-Jurado, Luis A. ; Kleefstra, Tjitske ; Penzes, Peter ; Wood, Stephen A. ; Burne, Thomas ; Pierson, Tyler Mark ; Piper, Michael ; Gécz, Jozef ; Jolly, Lachlan A.

In Biological Psychiatry 15 January 2020 87(2):100-112

Megan E. Rech; John M. McCarthy; Chun‐An Chen; Jane C. Edmond; Veeral S. Shah; Daniëlle G. M. Bosch; Gerard T. Berry; Linford Williams; Suneeta Madan‐Khetarpal; Dmitriy Niyazov; Charles Shaw‐Smith; Erin M. Kovar; Philip J. Lupo; Christian P. Schaaf

American Journal of Medical Genetics Part A. 182:1426-1437

Madelyn A. Gillentine; Tianyun Wang; Kendra Hoekzema; Jill Rosenfeld; Pengfei Liu; Hui Guo; Chang N. Kim; Bert B. A. De Vries; Lisenka E. L. M. Vissers; Magnus Nordenskjold; Malin Kvarnung; Anna Lindstrand; Ann Nordgren; Jozef Gecz; Maria Iascone; Anna Cereda; Agnese Scatigno; Silvia Maitz; Ginevra Zanni; Enrico Bertini; Christiane Zweier; Sarah Schuhmann; Antje Wiesener; Micah Pepper; Heena Panjwani; Erin Torti; Farida Abid; Irina Anselm; Siddharth Srivastava; Paldeep Atwal; Carlos A. Bacino; Gifty Bhat; Katherine Cobian; Lynne M. Bird; Jennifer Friedman; Meredith S. Wright; Bert Callewaert; Florence Petit; Sophie Mathieu; Alexandra Afenjar; Celenie K. Christensen; Kerry M. White; Orly Elpeleg; Itai Berger; Edward J. Espineli; Christina Fagerberg; Charlotte Brasch-Andersen; Lars Kjærsgaard Hansen; Timothy Feyma; Susan Hughes; Isabelle Thiffault; Bonnie Sullivan; Shuang Yan; Kory Keller; Boris Keren; Cyril Mignot; Frank Kooy; Marije Meuwissen; Alice Basinger; Mary Kukolich; Meredith Philips; Lucia Ortega; Margaret Drummond-Borg; Mathilde Lauridsen; Kristina Sorensen; Anna Lehman; CAUSES Study; Elena Lopez-Rangel; Paul Levy; Davor Lessel; Timothy Lotze; Suneeta Madan-Khetarpal; Jessica Sebastian; Jodie Vento; Divya Vats; L. Manace Benman; Shane Mckee; Ghayda M. Mirzaa; Candace Muss; John Pappas; Hilde Peeters; Corrado Romano; Maurizio Elia; Ornella Galesi; Marleen E. H. Simon; Koen L. I. van Gassen; Kara Simpson; Robert Stratton; Sabeen Syed; Julien Thevenon; Irene Valenzuela Palafoll; Antonio Vitobello; Marie Bournez; Laurence Faivre; Kun Xia; SPARK Consortium; Rachel K. Earl; Tomasz Nowakowski; Raphael A. Bernier; Evan E. Eichler

Genome Medicine, Vol 13, Iss 1, Pp 1-26 (2021)

Daghsni M; Center for Medical Genetics, UPMC Magee-Women's Hospital, Pittsburgh, Pennsylvania, USA.; Department of Obstetrics, Gynecology and Reproductive Sciences, University of Pittsburgh, Pittsburgh, Pennsylvania, USA.; Sheehan E; Center for Medical Genetics, UPMC Magee-Women's Hospital, Pittsburgh, Pennsylvania, USA.; Madan-Khetarpal S; Division of Medical Genetics, UPMC Children's Hospital of Pittsburgh, Pittsburgh, Pennsylvania, USA.; Aarabi M; Department of Obstetrics, Gynecology and Reproductive Sciences, University of Pittsburgh, Pittsburgh, Pennsylvania, USA.; Department of Pathology, University of Pittsburgh, Pittsburgh, Pennsylvania, USA.; Witchel SF; Division of Pediatric Endocrinology, Department of Pediatrics, UPMC Children's Hospital of Pittsburgh, Pittsburgh, Pennsylvania, USA.; Rajkovic A; Department of Pathology and Laboratory Medicine, University of California San Francisco, San Francisco, California, USA.; Department of Obstetrics, Gynecology and Reproductive Sciences, University of California San Francisco, San Francisco, California, USA.; Institute of Human Genetics, University of California san Francisco, San Francisco, California, USA.; Yatsenko SA; Department of Obstetrics, Gynecology and Reproductive Sciences, University of Pittsburgh, Pittsburgh, Pennsylvania, USA.; Department of Pathology, University of Pittsburgh, Pittsburgh, Pennsylvania, USA.; Department of Human Genetics, School of Public Health, University of Pittsburgh, Pittsburgh, Pennsylvania, USA.; Department of Pathology, Stanford University, Stanford, 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

Segal JE; Division of Pediatric Hematology-Oncology, UPMC Children's Hospital of Pittsburgh, Pittsburgh, Pennsylvania, USA.; Salgado CM; Department of Pathology and Laboratory Medicine, University of Miami Miller School of Medicine, Miami, Florida, USA.; Reyes-Múgica M; Department of Pathology and Laboratory Medicine, University of Miami Miller School of Medicine, Miami, Florida, USA.; Gumus M; Department of Radiology, UPMC Children's Hospital of Pittsburgh, Pittsburgh, Pennsylvania, USA.; Bykowski MR; Division of Pediatric Plastic Surgery, UPMC Children's Hospital of Pittsburgh, Pittsburgh, Pennsylvania, USA.; Madan-Khetarpal S; Division of Genetic and Genomic Medicine, UPMC Children's Hospital of Pittsburgh, Pittsburgh, Pennsylvania, USA.; Goitz RJ; Division of Pediatric Orthopaedic Surgery, UPMC Children's Hospital of Pittsburgh, Pittsburgh, Pennsylvania, USA.; Xavier F; Division of Pediatric Hematology-Oncology, UPMC Children's Hospital of Pittsburgh, Pittsburgh, Pennsylvania, USA.; McCormick M; Division of Pediatric Hematology-Oncology, University of Miami Miller School of Medicine, Miami, Florida, USA.

Publisher: John Wiley Country of Publication: United States NLM ID: 101186624 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1545-5017 (Electronic) Linking ISSN: 15455009 NLM ISO Abbreviation: Pediatr Blood Cancer Subsets: MEDLINE; In Process

Jun Liao; Keith A. Coffman; Joseph Locker; Quasar S. Padiath; Bruce Nmezi; Robyn A. Filipink; Jie Hu; Malini Sathanoori; Suneeta Madan‐Khetarpal; Marianne McGuire; Allison Schreiber; Rocio Moran; Neil Friedman; Lori Hoffner; Aleksandar Rajkovic; Svetlana A. Yatsenko; Urvashi Surti

Molecular Genetics & Genomic Medicine, Vol 9, Iss 4, Pp n/a-n/a (2021)

Magalie S. Leduc; Marianne Mcguire; Suneeta Madan-Khetarpal; Damara Ortiz; Susan Hayflick; Kory Keller; Christine M. Eng; Yaping Yang; Weimin Bi

Human Genetics. 137:257-264

Szafranski, P.; Gambin, T.; Dharmadhikari, A. V.; Akdemir, K. C.; Jhangiani, S. N.; Schuette, J.; Godiwala, N.; Yatsenko, S. A.; Sebastian, J.; Madan-Khetarpal, S.; Surti, U.; Abellar, R. G.; Bateman, D. A.; Wilson, A. L.; Markham, M. H.; Slamon, J.; Santos-Simarro, F.; Palomares, M.; Nevado, J.; Lapunzina, P.; Chung, B. Hon-Yin; Wong, W-L; Chu, Y.W. Y.; Mok, G. T. K.; Kerem, E.; Reiter, J.; Ambalavanan, N.; Anderson, S. A.; Kelly, D. R.; Shieh, J.; Rosenthal, T. C.; Scheible, K.; Steiner, L.; Iqbal, M. A.; McKinnon, M. L.; Hamilton, S. J.; Schlade-Bartusiak, K.; English, D.; Hendson, G.; Roeder, E. R.; DeNapoli, T. S.; Littlejohn, R. O.; Wolff, D. J.; Wagner, C. L.; Yeung, A.; Francis, D.; Fiorino, E. K.; Edelman, M.; Fox, J.; Hayes, D. A.; Janssens, S.; De Baere, E.; Menten, B.; Loccufier, A.; Vanwalleghem, L.; Moerman, P.; Sznajer, Y.; Lay, A. S.; Kussmann, J. L.; Chawla, J.; Payton, D. J.; Phillips, G. E.; Brosens, E.; Tibboel, D.; de Klein, A.; Maystadt, I.; Fisher, R.; Sebire, N.; Male, A.; Chopra, M.; Pinner, J.; Malcolm, G.; Peters, G.; Arbuckle, S.; Lees, M.; Mead, Z.; Quarrell, O.; Sayers, R.; Owens, Martina; Shaw-Smith, Charles; Lioy, J.; McKay, E.; de Leeuw, N.; Feenstra, I.; Spruijt, L.; Elmslie, F.; Thiruchelvam, T.; Bacino, C. A.; Langston, C.; Lupski, J. R.; Sen, P.; Popek, E.; Stankiewicz, P.

Repositorio Institucional de la Consejería de Sanidad de la Comunidad de Madrid
Consejería de Sanidad de la Comunidad de Madrid
Human Genetics, 135, 5, pp. 569-86

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

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

Albright, Deborah, MD; Arnold, Georgianne, MD; Arora, Gaurav, MD; Balest, Arcangela L., MD; Baumhardt, Heather, DDS; Cannon, Glenn M., MD; Carrasco, Mary M., MD, MPH; Cassidy, Elaine, MD; Chapman, Mary, DDS; Chaudhry, Rajeev, MD; Chaves-Gnecco, Diego, MD, MPH, FAAP; Chi, David H., MD; Jin Chong, Hey, MD, PhD; Cleves-Bayon, Catalina, MD; Cooper, James D., MD; D’alesio, Alene, DMD; Davit, Alexander J., III, MD, FAAP; Debrunner, Mark, MD; Dede, Ozgur, MD; Eichman, Adelaide L., MD; Escobar, Oscar, MD; Feldman, Heidi M., MD, PhD; Formeck, Cassandra L., MD, MS; Gaesser, Jenna, MD; Gehris, Robin P., MD; Glaser, Daniel, MD, MPH; Goldstein, Jesse A., MD, FAAP, FACS; Grunwaldt, Lorelei J., MD; Guerrero, Angela M., MD; Gurtunca, Nursen, MD; Landeo Gutierrez, Jeremy S., MD, MPH; Koch, Ellen, MD; Larkin, Allyson, MD; Li, Xiaoxiao, MD, PhD; Losee, Joseph E., MD, FACS, FAAP; Madan-Khetarpal, Suneeta, MD; Malek, Marcus, MD; Mcclincy, Michael P., MD; Mccormick, Andrew A., MD, FAAP; Michaels, Marian G., MD, MPH; Miyashita, Yosuke, MD, MPH; Mollen, Kevin, MD; Montano, Gerald T., DO, MS; Moon, Mackenzie, BS; Moritz, Michael L., MD; Narayanan, Srikala, MD; Nischal, Ken K., MD, FAAP, FRCOphth; O’donnell, Brighid, MD; Olgun, Z. Deniz, MD; Ortiz, Damara, MD; Poholek, Catherine H., MD, PhD; Richardson, Ward, MD; Riley, Melissa M., MD; Rudolph, Jeffrey A., MD; Safier, Robert A., MD; Squires, Judy H., MD; Srinath, Arvind, MD, MS; Stevens, Erica L., MD, MPH; Tadros, Sameh, MD, MSc; Tersak, Jean M., MD; Tobey, Allison, MD; Torres, Orquidia A., MD, MS; Trucco, Sara M., MD; Viswanathan, Pushpa, MD; Weiner, Daniel J., MD; Williams, John V., MD; Witchel, Selma Feldman, MD; Wolford, Jennifer E., DO, MPH; Woods, Katelyn, DMD; Zarit, Jennifer S., MD, IBCLC

Zitelli and Davis' Atlas of Pediatric Physical Diagnosis. :v-viii

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

Lessel I; Institute of Human Genetics, University Medical Center Hamburg-Eppendorf, 20246 Hamburg, Germany; Institute of Human Genetics, University of Regensburg, 93053 Regensburg, Germany.; Baresic A; Division of Computing and Data Science, Ruđer Bošković Institute, 10000 Zagreb, Croatia.; Chinn IK; Department of Pediatrics, Baylor College of Medicine, Houston, TX 77030, USA; Section of Immunology, Allergy, and Retrovirology, Texas Children's Hospital, Houston, TX 77030, USA.; May J; Institute of Immunology, University Medical Center Hamburg-Eppendorf, 20246 Hamburg, Germany.; Goenka A; Manchester Centre for Genomic Medicine, St Mary's Hospital, Manchester University NHS Foundation Trust, Health Innovation Manchester, Manchester, UK; Division of Evolution, Infection & Genomic Sciences, School of Biological Sciences, Faculty of Biology, Medicine and Health, University of Manchester, Manchester, UK.; Chandler KE; Manchester Centre for Genomic Medicine, St Mary's Hospital, Manchester University NHS Foundation Trust, Health Innovation Manchester, Manchester, UK; Division of Evolution, Infection & Genomic Sciences, School of Biological Sciences, Faculty of Biology, Medicine and Health, University of Manchester, Manchester, UK.; Posey JE; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX 77030, USA.; Afenjar A; Département de Génétique Paris, Centre de Référence Malformations et maladies congénitales du cervelet et déficiences intellectuelles de causes rares, APHP, Sorbonne Université, Paris, France.; Averdunk L; Institute of Human Genetics, Medical Faculty and University Hospital, Heinrich Heine University, Düsseldorf, Germany; Department of General Pediatrics, Neonatology and Pediatric Cardiology, University Children's Hospital, Heinrich-Heine-University, 40225 Düsseldorf, Germany.; Bedeschi MF; Fondazione IRCCS Ca' Granda Ospedale Maggiore Policlinico, Medical Genetics Unit, Milan, Italy.; Besnard T; L'Institut du Thorax, INSERM, CNRS, Université de Nantes, 44007 Nantes, France; Service de Génétique Médicale, CHU Nantes, 9 quai Moncousu, 44093 Nantes, France.; Brager R; Division of Rheumatology, Immunology and Allergy, McMaster Children's Hospital, Hamilton, ON L8S 4K1, Canada.; Brick L; Division of Genetics and Metabolics, McMaster Children's Hospital, Hamilton, ON L8S 4K1, Canada.; Brugger M; Institute of Human Genetics, Klinikum rechts der Isar, School of Medicine, Technical University of Munich, Munich, Germany; Department of Obstetrics and Gynecology, Klinikum Rechts der Isar, Technical University of Munich, Munich, Germany.; Brunet T; Institute of Human Genetics, Klinikum rechts der Isar, School of Medicine, Technical University of Munich, Munich, Germany.; Byrne S; Department of Paediatric Neurology, Neuromuscular Service, Evelina's Children Hospital, Guy's & St. Thomas' Hospital NHS Foundation Trust, London, UK.; Calle-Martín O; Immunology Department, Hospital de la Santa Creu i Sant Pau, Barcelona, Spain.; Capra V; Genomics and Clinical Genetics Unit, IRCCS Istituto Giannina Gaslini, Genoa, Italy.; Cardenas P; Nicklaus Children's Hospital, Miami, FL, USA.; Chappé C; Service d'oncohematologie pédiatrique, CHU Rennes, 35000 Rennes, France.; Chong HJ; Department of Pediatrics, University of Pittsburgh School of Medicine, UPMC Children's Hospital, Pittsburgh, PA 15224, USA.; Cogne B; L'Institut du Thorax, INSERM, CNRS, Université de Nantes, 44007 Nantes, France; Service de Génétique Médicale, CHU Nantes, 9 quai Moncousu, 44093 Nantes, France.; Conboy E; Department of Medical and Molecular Genetics, Indiana University School of Medicine, Indianapolis, IN, USA.; Cope H; Division of Medical Genetics, Department of Pediatrics, Duke University Medical Center, Durham, NC, USA.; Courtin T; Département de Génétique, Hôpital La Pitié-Salpêtrière, Assistance Publique-Hôpitaux de Paris, Paris, France.; Deb W; L'Institut du Thorax, INSERM, CNRS, Université de Nantes, 44007 Nantes, France; Service de Génétique Médicale, CHU Nantes, 9 quai Moncousu, 44093 Nantes, France.; Dilena R; Fondazione IRCCS Ca' Granda Ospedale Maggiore Policlinico, Neuropathophysiology Unit, Milan, Italy.; Dubourg C; Service de Génétique Moléculaire et Génomique, CHU, 35033 Rennes, France; University Rennes, CNRS, IGDR, UMR 6290, 35000 Rennes, France.; Elgizouli M; Institut für Humangenetik, Universitätsklinikum Essen, Universität Duisburg-Essen, Essen, Germany.; Fernandes E; Division of Genetics, Department of Pediatrics, Nemours Children's Health, Wilmington, DE, USA.; Fitzgerald KK; Department of Cardiology, Nemours Children's Hospital, Wilmington, DE, USA.; Gangi S; Neonatal Intensive Care Unit, Fondazione IRCCS Ca' Granda Ospedale Maggiore Policlinico, Via Francesco Sforza, 28, 20122 Milan, Italy.; George-Abraham JK; Dell Children's Medical Group, Austin, TX, USA; Department of Pediatrics, The University of Texas at Austin Dell Medical School, Austin, TX, USA.; Gucsavas-Calikoglu M; Division of Genetics and Metabolism, Department of Pediatrics, University of North Carolina at Chapel Hill School of Medicine, Chapel Hill, NC 27599, USA.; Haack TB; Institute of Medical Genetics and Applied Genomics, University of Tübingen, Tübingen, Germany.; Hadonou M; South West Thames Centre for Genomics, St George's University Hospitals NHS Foundation Trust, London SW17 0QT, UK.; Hanker B; Institute of Human Genetics, University of Lübeck, Lübeck, Germany.; Hüning I; Institute of Human Genetics, University of Lübeck, Lübeck, Germany.; Iascone M; Medical Genetics Laboratory, ASST Papa Giovanni XXIII, 24128 Bergamo, Italy.; Isidor B; L'Institut du Thorax, INSERM, CNRS, Université de Nantes, 44007 Nantes, France; Service de Génétique Médicale, CHU Nantes, 9 quai Moncousu, 44093 Nantes, France.; Järvelä I; Department of Medical Genetics, University of Helsinki, P.O. Box 720, 00251 Helsinki, Finland.; Jin JJ; Division of Pediatric Pulmonology, Allergy, and Sleep Medicine, Riley Hospital for Children, Indiana University School of Medicine, Indianapolis, IN, USA.; Jorge AAL; Unidade de Endocrinologia do Desenvolvimento, Laboratorio de Hormonios e Genetica Molecular (LIM42), Hospital das Clinicas da Faculdade de Medicina, Universidade de São Paulo (USP), São Paulo, Brazil; Unidade de Endocrinologia Genetica (LIM25), Hospital das Clinicas da Faculdade de Medicina, Universidade de São Paulo (USP), São Paulo, Brazil.; Josifova D; Department of Clinical Genetics, Guy's and St. Thomas' NHS Foundation Trust, London, UK.; Kalinauskiene R; Department of Clinical Genetics, Guy's and St. Thomas' NHS Foundation Trust, London, UK.; Kamsteeg EJ; Department of Human Genetics, Radboud University Medical Center, Nijmegen, the Netherlands.; Keren B; Département de Génétique, Hôpital La Pitié-Salpêtrière, Assistance Publique-Hôpitaux de Paris, Paris, France.; Kessler E; Division of Pediatric Hematology/Oncology, Department of Pediatrics, University of Pittsburgh School of Medicine, Pittsburgh, PA, USA.; Kölbel H; Department of Pediatric Neurology, Centre for Neuromuscular Disorders, Centre for Translational Neuro- and Behavioral Sciences, University Hospital Essen, Essen, Germany.; Kozenko M; Division of Genetics and Metabolics, McMaster Children's Hospital, Hamilton, ON L8S 4K1, Canada.; Kubisch C; Institute of Human Genetics, University Medical Center Hamburg-Eppendorf, 20246 Hamburg, Germany.; Kuechler A; Institut für Humangenetik, Universitätsklinikum Essen, Universität Duisburg-Essen, Essen, Germany.; Leal SM; Department of Neurology, Center for Statistical Genetics, Gertrude H. Sergievsky Center, Columbia University Medical Center, Columbia University, New York, NY 10032, USA; Taub Institute for Alzheimer's Disease and the Aging Brain, Columbia University Medical Center, New York, NY, USA.; Leppälä J; The Wellbeing Services County of South Ostrobothnia, 60280 Seinäjoki, Finland.; Luu SM; Department of Medical and Molecular Genetics, Indiana University School of Medicine, Indianapolis, IN, USA.; Lyon GJ; Department of Human Genetics, New York State Institute for Basic Research in Developmental Disabilities, New York, NY, USA; George A. Jervis Clinic, NYS Institute for Basic Research in Developmental Disabilities, Staten Island, NY, USA; Biology PhD Program, The Graduate Center, The City University of New York, New York, NY, USA.; Madan-Khetarpal S; Department of Pediatrics, Division of Medical Genetics and Genomic Medicine, UPMC Children's Hospital of Pittsburgh, Pittsburgh, PA, USA.; Mancardi M; Unit of Child Neuropsychiatry, IRCCS Istituto Giannina Gaslini, Epicare Network for Rare Disease, Genoa, Italy.; Marchi E; Department of Human Genetics, New York State Institute for Basic Research in Developmental Disabilities, New York, NY, USA.; Mehta L; Department of Pediatrics, Division of Clinical Genetics, Columbia University Irving Medical Center, New York, NY, USA.; Menendez B; Division of Genetics, University of Illinois College of Medicine, Chicago, IL 60612, USA.; Morel CF; Fred A. Litwin Family Centre in Genetic Medicine, Department of Medicine, University Health Network, Toronto, ON, Canada.; Harasink SM; Division of Genetics, Department of Pediatrics, Nemours Children's Health, Wilmington, DE, USA.; Nevay DL; Fred A. Litwin Family Centre in Genetic Medicine, Department of Medicine, University Health Network, Toronto, ON, Canada.; Nigro V; Department of Precision Medicine, University of Campania 'Luigi Vanvitelli', Naples, Italy; Telethon Institute of Genetics and Medicine, Pozzuoli, Italy.; Odent S; Clinical Genetics, Centre de Référence Maladies Rares CLAD-Ouest, ERN-ITHACA, FHU GenOMedS, CHU de Rennes, Rennes, France; University Rennes, CNRS, INSERM, Institut de génétique et développement de Rennes, UMR 6290, ERL U1305, Rennes, France.; Oegema R; Department of Genetics, University Medical Center Utrecht, Utrecht University, 3584 EA Utrecht, the Netherlands.; Pappas J; Department of Pediatrics, New York University Grossman School of Medicine, New York, NY 10016, USA.; Pastore MT; Division of Genetic and Genomic Medicine, Nationwide Children's Hospital, Columbus, OH, USA; Department of Pediatrics, The Ohio State University College of Medicine, Columbus, OH, USA.; Perilla-Young Y; Division of Genetics and Metabolism, Department of Pediatrics, University of North Carolina at Chapel Hill School of Medicine, Chapel Hill, NC 27599, USA.; Platzer K; Institute of Human Genetics, University of Leipzig Medical Center, 04103 Leipzig, Germany.; Powell-Hamilton N; Division of Medical Genetics, Nemours Children's Hospital, Wilmington, DE, USA.; Rabin R; Department of Pediatrics, New York University Grossman School of Medicine, New York, NY 10016, USA.; Rekab A; Department of Pediatrics, Division of Clinical Genetics, Columbia University Irving Medical Center, New York, NY, USA.; Rezende RC; Unidade de Endocrinologia Genetica (LIM25), Hospital das Clinicas da Faculdade de Medicina, Universidade de São Paulo (USP), São Paulo, Brazil.; Robert L; Department of Clinical Genetics, Guy's and St. Thomas' NHS Foundation Trust, London, UK.; Romano F; 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, 16145 Genoa, Italy; U.O.C. Genetica Medica, IRCCS Istituto Giannina Gaslini, Genoa, Italy.; Poths K; Institute of Medical Genetics and Applied Genomics, University of Tübingen, Tübingen, Germany.; Schrauwen I; Department of Translational Neurosciences, University of Arizona College of Medicine - Phoenix, Phoenix, AZ 85004, USA.; Sebastian J; Department of Pediatrics, Division of Medical Genetics and Genomic Medicine, UPMC Children's Hospital of Pittsburgh, Pittsburgh, PA, USA.; Short J; South West Thames Centre for Genomics, St George's University Hospitals NHS Foundation Trust, London SW17 0QT, UK.; Sidlow R; Department of Medical Genetics and Metabolism, Valley Children's Hospital, Madera, CA, USA.; Sullivan J; Division of Medical Genetics, Department of Pediatrics, Duke University Medical Center, Durham, NC, USA.; Szakszon K; Institute of Pediatrics, Faculty of Medicine, University of Debrecen, 4032 Debrecen, Hungary.; Tan QKG; Division of Medical Genetics, Department of Pediatrics, Duke University Medical Center, Durham, NC, USA.; Wagner M; Institute of Human Genetics, Klinikum rechts der Isar, School of Medicine, Technical University of Munich, Munich, Germany; Institute of Neurogenomics, Helmholtz Zentrum München, Neuherberg, Germany; Department of Pediatrics, Division of Pediatric Neurology, Developmental Medicine and Social Pediatrics, University Hospital of Munich, Munich, Germany.; Wieczorek D; Institute of Human Genetics, Medical Faculty and University Hospital, Heinrich Heine University, Düsseldorf, Germany.; Yuan B; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX 77030, USA; Human Genome Sequencing Center, Baylor College of Medicine, Houston, TX 77030, USA.; Maeding N; Cell Therapy Institute, Paracelsus Medical University (PMU), 5020 Salzburg, Austria.; Strunk D; Cell Therapy Institute, Paracelsus Medical University (PMU), 5020 Salzburg, Austria.; Begtrup A; GeneDx, LLC, Gaithersburg, MD 20877, USA.; Banka S; Manchester Centre for Genomic Medicine, St Mary's Hospital, Manchester University NHS Foundation Trust, Health Innovation Manchester, Manchester, UK; Division of Evolution, Infection & Genomic Sciences, School of Biological Sciences, Faculty of Biology, Medicine and Health, University of Manchester, Manchester, UK.; Lupski JR; Department of Pediatrics, Baylor College of Medicine, Houston, TX 77030, USA; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX 77030, USA; Human Genome Sequencing Center, Baylor College of Medicine, Houston, TX 77030, USA; Texas Children's Hospital, Houston, TX 77030, USA.; Tolosa E; Institute of Immunology, University Medical Center Hamburg-Eppendorf, 20246 Hamburg, Germany; German Center for Child and Adolescent Health (DZKJ), partner site Hamburg, Hamburg, Germany.; Lessel D; Institute of Human Genetics, University Medical Center Hamburg-Eppendorf, 20246 Hamburg, Germany; Institute of Human Genetics, University of Regensburg, 93053 Regensburg, Germany; Institute of Clinical Human Genetics, University Hospital Regensburg, 93053 Regensburg, Germany. Electronic address: davor.lessel@klinik.uni-regensburg.de.

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

Callewaert, B.; Su, C.T.; Van Damme, T.; Vlummens, P.; Malfait, F.; Vanakker, O.; Schulz, B.; Mac Neal, M.; Davis, E.C.; Lee, J.G.; Salhi, A.; Unger, S.; Heimdal, K.; De Almeida, S.; Kornak, U.; Gaspar, H.; Bresson, J.L.; Prescott, K.; Gosendi, M.E.; Mansour, S.; Piérard, G.E.; Madan-Khetarpal, S.; Sciurba, F.C.; Symoens, S.; Coucke, P.J.; Van Maldergem, L.; Urban, Z.; De Paepe, A.

Human Mutation, vol. 34, no. 1, pp. 111-121

You, Li; Andrea S, Garrod; Suneeta, Madan-Khetarpal; Gayathri, Sreedher; Marianne, McGuire; Hisato, Yagi; Nikolai T, Klena; George C, Gabriel; Omar, Khalifa; Maliha, Zahid; Ashok, Panigrahy; Daniel J, Weiner; Cecilia W, Lo

American Journal of Medical Genetics Part A. 167:2188-2196

Madan-Khetarpal S; Division of Genetics and Genomics, Children's Hospital of Pittsburgh, Pittsburgh, PA, United States.; He M; Metabolic and Advanced Diagnostics, Children's Hospital of Philadelphia, Philadelphia, PA, United States.; Wongkittichote P; Department of Pathology and Laboratory Medicine, Division of Human Genetics, Children's Hospital of Philadelphia, Philadelphia, PA, United States.; Dobrowolski SF; Department of Pathology, University of Pittsburgh, School of Medicine, Pittsburgh, PA, United States.

Publisher: Oxford University Press Country of Publication: England NLM ID: 9421549 Publication Model: Print Cited Medium: Internet ISSN: 1530-8561 (Electronic) Linking ISSN: 00099147 NLM ISO Abbreviation: Clin Chem Subsets: MEDLINE

Davis, Amani A.; Haredy, Mostafa M.; Huey, Jennifer; Scanga, Hannah; Zuccoli, Giulio; Pollack, Ian F.; Tamber, Mandeep S.; Goldstein, Jesse; Madan-Khetarpal, Suneeta; Nischal, Ken K.

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