학술논문
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'학술논문'
에서 검색결과 212건 | 목록
1~20
Academic Journal
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
Academic Journal
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
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
Academic Journal
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
Academic Journal
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
Academic Journal
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; 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; John Acampado; Andrea J. Ace; Alpha Amatya; Irina Astrovskaya; Asif Bashar; Elizabeth Brooks; Martin E. Butler; Lindsey A. Cartner; Wubin Chin; Wendy K. Chung; Amy M. Daniels; Pamela Feliciano; Chris Fleisch; Swami Ganesan; William Jensen; Alex E. Lash; Richard Marini; Vincent J. Myers; Eirene O’Connor; Chris Rigby; Beverly E. Robertson; Neelay Shah; Swapnil Shah; Emily Singer; Lee Anne G. Snyder; Alexandra N. Stephens; Jennifer Tjernagel; Brianna M. Vernoia; Natalia Volfovsky; Loran Casey White; Alexander Hsieh; Yufeng Shen; Xueya Zhou; Tychele N. Turner; Ethan Bahl; Taylor R. Thomas; Leo Brueggeman; Tanner Koomar; Jacob J. Michaelson; Brian J. O’Roak; Rebecca A. Barnard; Richard A. Gibbs; Donna Muzny; Aniko Sabo; Kelli L. Baalman Ahmed; Evan E. Eichler; Matthew Siegel; Leonard Abbeduto; David G. Amaral; Brittani A. Hilscher; Deana Li; Kaitlin Smith; Samantha Thompson; Charles Albright; Eric M. Butter; Sara Eldred; Nathan Hanna; Mark Jones; Daniel Lee Coury; Jessica Scherr; Taylor Pifher; Erin Roby; Brandy Dennis; Lorrin Higgins; Melissa Brown; Michael Alessandri; Anibal Gutierrez; Melissa N. Hale; Lynette M. Herbert; Hoa Lam Schneider; Giancarla David; Robert D. Annett; Dustin E. Sarver; Ivette Arriaga; Alexies Camba; Amanda C. Gulsrud; Monica Haley; James T. McCracken; Sophia Sandhu; Maira Tafolla; Wha S. Yang; Laura A. Carpenter; Catherine C. Bradley; Frampton Gwynette; Patricia Manning; Rebecca Shaffer; Carrie Thomas; Raphael A. Bernier; Emily A. Fox; Jennifer A. Gerdts; Theodore Ho; Daniel Cho; Joseph Piven; Holly Lechniak; Latha V. Soorya; Rachel Gordon; Allison Wainer; Lisa Yeh; Cesar Ochoa-Lubinoff; Nicole Russo; Elizabeth Berry-Kravis; Stephanie Booker; Craig A. Erickson; Lisa M. Prock; Katherine G. Pawlowski; Emily T. Matthews; Stephanie J. Brewster; Margaret A. Hojlo; Evi Abada; Elena Lamarche; Shwetha C. Murali; William T. Harvey; Hannah E. Kaplan; Karen L. Pierce; Lindsey DeMarco; Susannah Horner; Juhi Pandey; Samantha Plate; Mustafa Sahin; Katherine D. Riley; Erin Carmody; Julia Constantini; Amy Esler; Ali Fatemi; Hanna Hutter; Rebecca J. Landa; Alexander P. McKenzie; Jason Neely; Vini Singh; Bonnie Van Metre; Ericka L. Wodka; Eric J. Fombonne; Lark Y. Huang-Storms; Lillian D. Pacheco; Sarah A. Mastel; Leigh A. Coppola; Sunday Francis; Andrea Jarrett; Suma Jacob; Natasha Lillie; Jaclyn Gunderson; Dalia Istephanous; Laura Simon; Ori Wasserberg; Angela L. Rachubinski; Cordelia R. Rosenberg; Stephen M. Kanne; Amanda D. Shocklee; Nicole Takahashi; Shelby L. Bridwell; Rebecca L. Klimczac; Melissa A. Mahurin; Hannah E. Cotrell; Cortaiga A. Grant; Samantha G. Hunter; Christa Lese Martin; Cora M. Taylor; Lauren K. Walsh; Katherine A. Dent; Andrew Mason; Anthony Sziklay; Christopher J. Smith; Rachel K. Earl; Tomasz Nowakowski
Genome Med
Scientia
Scientia. Dipòsit d'Informació Digital del Departament de Salut
instname
Genome Medicine, Vol 13, Iss 1, Pp 1-26 (2021)
Genome Medicine, 13, 1
Genome medicine
Gillentine, M A, Wang, T, Hoekzema, K, Rosenfeld, J, Liu, P, Guo, H, Kim, C N, De Vries, B B A, Vissers, L E L M, Nordenskjold, M, Kvarnung, M, Lindstrand, A, Nordgren, A, Gecz, J, Iascone, M, Cereda, A, Scatigno, A, Maitz,S , Zanni, G, Bertini, E, Zweier, C, Schuhmann, S , Wiesener, A, Pepper, M, Panjwani, H, Torti, E, Abid, F, Anselm, I, Srivastava, S , Atwal, P, Bacino, C A, Bhat, G, Cobian, K, Bird, L M, Friedman, J, Wright, M S , Callewaert, B, Petit, F, Mathieu, S , Afenjar, A, Christensen, C K, White, K M, Elpeleg, O, Berger, I, Espineli, E J, Fagerberg, C, Brasch-Andersen, C, Hansen, L K, Lauridsen, M, Sorensen, K, CAUSES Study & SPARK Consortium 2021, ' Rare deleterious mutations of HNRNP genes result in shared neurodevelopmental disorders ', Genome Medicine, vol. 13, pp. 63 . https://doi.org/10.1186/s13073-021-00870-6
Genome Medicine, vol 13, iss 1
GENOME MEDICINE
Scientia
Scientia. Dipòsit d'Informació Digital del Departament de Salut
instname
Genome Medicine, Vol 13, Iss 1, Pp 1-26 (2021)
Genome Medicine, 13, 1
Genome medicine
Gillentine, M A, Wang, T, Hoekzema, K, Rosenfeld, J, Liu, P, Guo, H, Kim, C N, De Vries, B B A, Vissers, L E L M, Nordenskjold, M, Kvarnung, M, Lindstrand, A, Nordgren, A, Gecz, J, Iascone, M, Cereda, A, Scatigno, A, Maitz,
Genome Medicine, vol 13, iss 1
GENOME MEDICINE
Academic Journal
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)
Academic Journal
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
Academic Journal
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
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
Academic Journal
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
Academic Journal
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
Academic Journal
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.
Plastic and Reconstructive Surgery - Global Open. Dec 01, 2019 7(12):e2540-e2540
Academic Journal
Stankiewicz, P.; Kulkarni, S.; Dharmadhikari, A.V.; Sampath, S.; Bhatt, S.S.; Shaikh, T.H.; Xia, Z.; Pursley, A.N.; Cooper, M.L.; Shinawi, M.; Paciorkowski, A.R.; Grange, D.K.; Noetzel, M.J.; Saunders, S.; Simons, P.; Summar, M.; Lee, B.; Scaglia, F.; Fellmann, F.; Martinet, D.; Beckmann, J.S.; Asamoah, A.; Platky, K.; Sparks, S.; Martin, A.S.; Madan-Khetarpal, S.; Hoover, J.; Medne, L.; Bonnemann, C.G.; Moeschler, J.B.; Vallee, S.E.; Parikh, S.; Irwin, P.; Dalzell, V.P.; Smith, W.E.; Banks, V.C.; Flannery, D.B.; Lovell, C.M.; Bellus, G.A.; Golden-Grant, K.; Gorski, J.L.; Kussmann, J.L.; McGregor, T.L.; Hamid, R.; Pfotenhauer, J.; Ballif, B.C.; Shaw, C.A.; Kang, S.H.; Bacino, C.A.; Patel, A.; Rosenfeld, J.A.; Cheung, S.W.; Shaffer, L.G.
Human Mutation, vol. 33, no. 1, pp. 165-179
Academic Journal
Hui Guo; Ying Li; Lu Shen; Tianyun Wang; Xiangbin Jia; Lijuan Liu; Tao Xu; Mengzhu Ou; Kendra Hoekzema; Huidan Wu; Madelyn A. Gillentine; Cenying Liu; Hailun Ni; Pengwei Peng; Rongjuan Zhao; Yu Zhang; Chanika Phornphutkul; Alexander P. A. Stegmann; Carlos E. Prada; Robert J. Hopkin; Joseph T. Shieh; Kirsty McWalter; Kristin G. Monaghan; Peter M. van Hasselt; Koen van Gassen; Ting Bai; Min Long; Lin Han; Yingting Quan; Meilin Chen; Yaowen Zhang; Kuokuo Li; Qiumeng Zhang; Jieqiong Tan; Tengfei Zhu; Yaning Liu; Nan Pang; Jing Peng; Daryl A. Scott; Seema R. Lalani; Mahshid Azamian; Grazia M. S. Mancini; Darius J. Adams; Malin Kvarnung; Anna Lindstrand; Ann Nordgren; Jonathan Pevsner; Ikeoluwa A. Osei-Owusu; Corrado Romano; Giuseppe Calabrese; Ornella Galesi; Jozef Gecz; Eric Haan; Judith Ranells; Melissa Racobaldo; Magnus Nordenskjold; Suneeta Madan-Khetarpal; Jessica Sebastian; Susie Ball; Xiaobing Zou; Jingping Zhao; Zhengmao Hu; Fan Xia; Pengfei Liu; Jill A. Rosenfeld; Bert B. A. de Vries; Raphael A. Bernier; Zhi-Qing David Xu; Honghui Li; Wei Xie; Robert B. Hufnagel; Evan E. Eichler; Kun Xia
Sci Adv
Science Advances, 5, 9
Science Advances, 5, 9
Academic Journal
Dijck, A. van; Vulto-van Silfhout, A.T.; Cappuyns, E.; Werf, I.M. van der; Mancini, G.M.; Tzschach, A.; Bernier, R.; Gozes, I.; Eichler, E.E.; Romano, C.; Lindstrand, A.; Nordgren, A.; Kvarnung, M.; Kleefstra, T.; Vries, B.B.A. de; Kury, S.; Rosenfeld, J.A.; Meuwissen, M.E.; Vandeweyer, G.; Kooy, R.F.; Bakshi, M.; Wilson, M.; Berman, Y.; Dickson, R.; Fransen, E.; Helsmoortel, C.; Ende, J. van den; Aa, N. van der; Wijdeven, M.J. van de; Rosenblum, J.; Monteiro, F.; Kok, F.; Quercia, N.; Bowdin, S.; Dyment, D.; Chitayat, D.; Alkhunaizi, E.; Boonen, S.E.; Keren, B.; Jacquette, A.; Faivre, L.; Bezieau, S.; Isidor, B.; Riess, A.; Moog, U.; Lynch, S.A.; McVeigh, T.; Elpeleg, O.; Smeland, M.F.; Fannemel, M.; Haeringen, A. van; Maas, S.M.; Veenstra-Knol, H.E.; Schouten, M.; Willemsen, M.H.; Marcelis, C.L.; Ockeloen, C.; Burgt, I. van der; Feenstra, I.; Smagt, J. van der; Jezela-Stanek, A.; Krajewska-Walasek, M.; Gonzalez-Lamuno, D.; Anderlid, B.M.; Malmgren, H.; Nordenskjold, M.; Clement, E.; Hurst, J.; Metcalfe, K.; Mansour, S.; Lachlan, K.; Clayton-Smith, J.; Hendon, L.G.; Abdulrahman, O.A.; Morrow, E.; McMillan, C.; Gerdts, J.; Peeden, J.; Vergano, S.A.S.; Valentino, C.; Chung, W.K.; Ozmore, J.R.; Bedrosian-Sermone, S.; Dennis, A.; Treat, K.; Hughes, S.S.; Safina, N.; Pichon, J.B. le; McGuire, M.; Infante, E.; Madan-Khetarpal, S.; Desai, S.; Benke, P.; Krokosky, A.; Cristian, I.; Baker, L.; Gripp, K.; Stessman, H.A.; Eichenberger, J.; Jayakar, P.; Pizzino, A.; Manning, M.A.; Slattery, L.; ADNP Consortium
Academic Journal
Machol, Keren; Rousseau, Justine; Ehresmann, Sophie; Garcia, Thomas; Nguyen, Thi Tuyet Mai; Spillmann, Rebecca C.; Sullivan, Jennifer A.; Shashi, Vandana; Jiang, Yong hui; Stong, Nicholas; Fiala, Elise; Willing, Marcia; Pfundt, Rolph; Kleefstra, Tjitske; Cho, Megan T.; McLaughlin, Heather; Rosello Piera, Monica; Orellana, Carmen; Martínez, Francisco; Caro-Llopis, Alfonso; Monfort, Sandra; Roscioli, Tony; Nixon, Cheng Yee; Buckley, Michael F.; Turner, Anne; Jones, Wendy D.; van Hasselt, Peter M.; Hofstede, Floris C.; van Gassen, Koen L.I.; Brooks, Alice S.; van Slegtenhorst, Marjon A.; Lachlan, Katherine; Sebastian, Jessica; Madan-Khetarpal, Suneeta; Sonal, Desai; Sakkubai, Naidu; Thevenon, Julien; Faivre, Laurence; Maurel, Alice; Petrovski, Slavé; Krantz, Ian D.; Tarpinian, Jennifer M.; Rosenfeld, Jill A.; Lee, Brendan H.; Adams, David R.; Alejandro, Mercedes E.; Allard, Patrick; Azamian, Mahshid S.; Bacino, Carlos A.; Balasubramanyam, Ashok; Undiagnosed Diseases Network
Academic Journal
Tao, Hirotaka; Manak, J. Robert; Sowers, Levi; Mei, Xue; Kiyonari, Hiroshi; Abe, Takaya; Dahdaleh, Nader S.; Yang, Tian; Wu, Shu; Chen, Shan; Fox, Mark H.; Gurnett, Christina; Montine, Thomas; Bird, Thomas; Shaffer, Lisa G.; Rosenfeld, Jill A.; McConnell, Juliann; Madan-Khetarpal, Suneeta; Berry-Kravis, Elizabeth; Griesbach, Hilary; Saneto, Russell P.; Scott, Matthew P.; Antic, Dragana; Reed, Jordan; Boland, Riley; Ehaideb, Salleh N.; El-Shanti, Hatem; Mahajan, Vinit B.; Ferguson, Polly J.; Axelrod, Jeffrey D.; Lehesjoki, Anna-Elina; Fritzsch, Bernd; Slusarski, Diane C.; Wemmie, John; Ueno, Naoto; Bassuk, Alexander G.
The American Journal of Human Genetics. 88:138-149
Academic Journal
Shobhit, Madan; Suneeta, Madan-Khetarpal; Sang C, Park; Urvashi, Surti; Ariel L, Bailey; Juliann, McConnell; Sameh S, Tadros
American Journal of Medical Genetics Part A. :1295-1299
Academic Journal
Daghsni, M.; Sheehan, E.; Aarabi, M.; Yatsenko, S.A.; Madan-Khetarpal, S.; Witchel, S.F.; Rajkovic, A.
In: American Journal of Medical Genetics, Part A . (American Journal of Medical Genetics, Part A, March 2025, 197(3))
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