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D

David Viskochil

department of pediatrics

65H-index
316Paper Count
1.5WCitation Count
Published Papers 83
Publication Date
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Further characterization of the BRSK2-associated neurodevelopmental disorder
errEuropean Journal of Human Genetics
IF4.6
err2026-07-27
err0
errOAAI
errPalak Singhal; Tzung-Chien Hsieh; Nadja Ehmke; Elena Bacchelli; Marta Viggiano; Elena Maestrini; Paola Visconti; Annio Posar; Maria Cristina Scaduto; Alessandro Vaisfeld; Carey Ronspies; Sarah Burke; Joana Rosmaninho Salgado; Joaquim Sá; Sara Ribeiro; Amelle Shillington; Anjali Aggarwal; Christina Dailey; Carol Saunders; Florencia Del Viso; Chaya N. Murali; Melissa MacPherson; Oana Caluseriu; Alain Verloes; Jonathan Levy; Yline Capri; Hannah S. Kemmer; Manuel Holtgrewe; Philip M. Boone; Lance Rodan; Georgia Vasileiou; Melissa Pauly; André Reis; Isabella Herman; Ivy Johnson; Himanshu Goel; Ana Maria Rodriguez Barreto; Flavio Faletra; Catia Mio; Mona L. Essawi; Heba A. Hassan; Wessam E. Sharaf-Eldin; Nirmeen Kishk; Giuseppe Donato Mangano; Renata Mangano; Andrea K. Shields; Judith D. Ranells; Trine Bjørg Hammer; Clara Velmans; Christian Netzer; Nora Winnerling; Konstantinos Kolokotronis; Benjamin Seidl; Anita Rauch; Alberto Fernandez-Jaen; Aboulfazl Rad; Gabriela Oprea; Paskal Cullufi; Sonila Tomori; Claire Beneteau; Marine Legendre; Caroline Rooryck; Hannah Klinkhammer; Tobias B. Haack; Amjad Khan; Johanna Kick; Deborah Bartholdi; Dominique Braun; Erin E. Baldwin; David H. Viskochil; Lorenzo D. Botto; Anna LaGroon; Emily Black; Kameryn M. Butler; Emmanuelle Ranza; Manon Macherel; Vincent Desportes; Mathilde Pujalte; Louis Januel; Boris Keren; Cyril Mignot; Madeleine Harion; Maartje L. E. Voors; Charlotte W. Ockeloen; Javier Porta-Pelayo; Bernt Popp; Peter Krawitz; Heinrich Sticht; Anne Gregor; Christiane Zweier
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Diazoxide Choline Extended-release Tablets in Prader-Willi Syndrome: A Randomized, Double-blind, Withdrawal Period Study
errJOURNAL OF CLINICAL ENDOCRINOLOGY & METABOLISM
IF5.1
err2026-01-01
err2
PREAI
errMiller, Jennifer L.; Bridges, Nicola; Felner, Eric, I; Salehi, Parisa; Yanovski, Jack A.; Stevenson, David A.; Mejia-Corletto, Jorge; Shaikh, Mohamad G.; Abuzzahab, M. Jennifer; Fleischman, Amy; Kimonis, Virginia; Shoemaker, Ashley H.; Holland, Anthony; Bird, Lynne M.; Obrynba, Kathryn S.; Lah, Melissa; Littlejohn, Elizabeth; Harwood, Katerina; Shea, Heidi; Viskochil, David; Hirano, Patricia; Yen, Kristen; Ballal, Shaila; Huang, Michael; Cowen, Neil M.; Bhatnagar, Anish; Gevers, Evelien
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RNA sequencing provides functional insights and diagnostic resolution in previously unsolved rare disease cases
errBMC MEDICAL GENOMICS
IF2
err2025-11-14
err0
errOAAI
errLewis, Robert G.; O'shea, John M.; Pizzo, Lucilla; Wen, Ting; Fulmer, Makenzie L.; Zhao, Jian; Verheijen, Jan; Zhang, Chaofan; Velinder, Matt; Nicholas, Thomas J.; Boyden, Steven E.; Ward, Alistair; Baldwin, Erin E.; Andrews, Ashley; Ruiz, Joselin Hernandez; Marchetti, Marco; Viskochil, David; Carey, John C.; Bleyl, Steven B.; Butterfield, Russell J.; Taliercio, Vanina; Botto, Lorenzo D.; Mao, Rong; Bayrak-Toydemir, Pinar
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CTNI-06. UPDATE FROM THE LONG-TERM FOLLOW-UP (LTFU) PHASE OF RENEU: A PIVOTAL PHASE 2B TRIAL OF MIRDAMETINIB IN CHILDREN AND ADULTS WITH NEUROFIBROMATOSIS TYPE 1 (NF1)-ASSOCIATED SYMPTOMATIC PLEXIFORM NEUROFIBROMA (PN)
errNeuro-Oncology
IF13.4
err2025-11-11
err0
errOAAI
errAngela Hirbe; Christopher Moertel; Hans Shuhaiber; David Viskochil; Alpa Sidhu; Julia Meade; Lauren Weintraub; Abraham Langseth; Michael Weber; Armend Lokku; Fouad Hajjar; Reuben Antony; David Schiff; Ahmed Raslan; Kathryn Nevel; Dusica Babovic-Vuksanovic; Timothy Gershon
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EXPLORING THE RELATIONSHIP BETWEEN PATIENT BASELINE CHARACTERISTICS WITH RESPONSES TO MIRDAMETINIB IN THE RENEU TRIAL OF CHILDREN AND ADULTS WITH NEUROFIBROMATOSIS TYPE 1 (NF1)-ASSOCIATED PLEXIFORM NEUROFIBROMA (PN)
errNEURO-ONCOLOGY
IF13.4
err2025-11-01
err0
errOAAI
errGershon, Timothy R.; Hirbe, Angela C.; Shuhaiber, Hans H.; Viskochil, David; Sidhu, Alpa; Bielamowicz, Kevin J.; Nickerson, Molly; Lokku, Armend; Weber, Michael D.; Weintraub, Lauren; Hajjar, Fouad M.; Babovic-Vuksanovic, Dusica
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RENEU LONG-TERM FOLLOW-UP (LTFU) UPDATE: A PIVOTAL, PHASE 2B TRIAL OF MIRDAMETINIB IN CHILDREN AND ADULTS WITH NEUROFIBROMATOSIS TYPE 1 (NF1)-ASSOCIATED SYMPTOMATIC PLEXIFORM NEUROFIBROMA (PN)
errNEURO-ONCOLOGY
IF13.4
err2025-10-01
err0
errOAAI
errBabovic-Vuksanovic, D.; Moertel, C. L.; Shuhaiber, H. H.; Viskochil, D.; Sidhu, A.; Meade, J.; Hirbe, A. C.; Weintraub, L.; Langseth, A. J.; Weber, M. D.; Lokku, A.; Hajjar, F. M.; Antony, R.; Schiff, D.; Raslan, A. M.; Nevel, K.; Gershon, T. R.
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errSave
Vertical inheritance and unique differential phenotypes of reciprocal recombinant chromosome 18 within a multi-generation family
errEuropean Journal of Human Genetics
IF4.6
err2025-07-08
err0
PREAI
errTing Wen; Gulsen Akay; Janice Palumbos; Betsy Ostrander; Denise I. Quigley; Allen N. Lamb; Erica F. Andersen; Bo Hong; David Viskochil
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errSave
Azt845 gene replacement therapy for late-onset Pompe disease: An update on safety and preliminary efficacy data from FORTIS, a phase 1/2 open-label clinical study
errMOLECULAR GENETICS AND METABOLISM
IF3.5
err2025-02-01
err0
PREAI
errMozaffar, Tahseen; Longo, Nicola; Walzer, Mark; Steup, Achim; Viskochil, David; Hayashi, Chieri; Diaz-Manera, Jordi
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errSave
CONSENSUS RECOMMENDATIONS FOR AN INTEGRATED DIAGNOSTIC APPROACH TO NERVE SHEATH TUMORS ARISING IN THE SETTING OF NEUROFIBROMATOSIS TYPE 1
errNEURO-ONCOLOGY
IF13.4
err2024-11-11
err0
PREAI
errDehner, Carina; Gross, Andrea; Lazar, Alexander; Lucas, Calixto-Hope; Miettinen, Markku; Pekmezci, Melike; Perry, Arie; Quezado, Martha; Rodriguez, Fausto; Romo, Carlos; Stemmer-Rachamimov, Anat; Viskochil, David
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HEALTH-RELATED QUALITY-OF-LIFE (HRQOL) IN ADULTS AND CHILDREN WITH NEUROFIBROMATOSIS TYPE 1-ASSOCIATED PLEXIFORM NEUROFIBROMA (NF1-PN) TREATED WITH MIRDAMETINIB: PIVOTAL, PHASE 2B RENEU TRIAL
errNEURO-ONCOLOGY
IF13.4
err2024-11-11
err0
PREAI
errBabovic-Vuksanovic, Dusica; Hirbe, Angela; Moertel, Christopher; Shuhaiber, Hans; Sidhu, Alpa; Bielamowicz, Kevin; Viskochil, David; Bell, Timothy; Weber, Michael; Langseth, Abraham; Lokku, Armend; Weintraub, Lauren; Hajjar, Fouad; Foreman, Nick; Gershon, Timothy; McNall-Knapp, Rene
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errSave
Consensus recommendations for an integrated diagnostic approach to peripheral nerve sheath tumors arising in the setting of Neurofibromatosis Type 1
errNEURO-ONCOLOGY
IF13.4
err2024-11-06
err0
errOAAI
errLucas, Calixto-Hope G.; Gross, Andrea M.; Romo, Carlos G.; Dehner, Carina A.; Lazar, Alexander J.; Miettinen, Markku; Pekmezci, Melike; Quezado, Martha; Rodriguez, Fausto J.; Stemmer-Rachamimov, Anat; Viskochil, David; Perry, Arie; Symposium Atypical Neurofibroma State Science Members, Shivani
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errSave
RENEU: A PIVOTAL PHASE 2B TRIAL OF MIRDAMETINIB IN CHILDREN AND ADULTS WITH NEUROFIBROMATOSIS TYPE 1 (NF1) ASSOCIATED SYMPTOMATIC INOPERABLE PLEXIFORM NEUROFIBROMA (PN)
errNEURO-ONCOLOGY
IF13.4
err2024-10-17
err0
PREAI
errMoertel, C. L.; Hirbe, A. C.; Shuhaiber, H. H.; Viskochil, D.; Sidhu, A.; Bielamowicz, K.; Weber, M. D.; Lokku, A.; Smith, L.; Weintraub, L.; McNall-Knapp, R. Y.; Hajjar, F. M.; Foreman, N.; Gershon, T. R.; Babovic-Vuksanovic, D.
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errSave
Effect of food on selumetinib pharmacokinetics and gastrointestinal tolerability in adolescents with neurofibromatosis type 1-related plexiform neurofibromas
errNEURO-ONCOLOGY ADVANCES
IF4.1
err2024-03-16
err2
errOAAI
errViskochil, David; Wysocki, Mariusz; Learoyd, Maria; Sun, Peng; So, Karen; Evans, Azura; Lai, Francis; Hernandez, Hector Salvador
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errSave
De Novo Variants in RAB11B Cause Various Degrees of Global Developmental Delay and Intellectual Disability in Children
errPEDIATRIC NEUROLOGY
IF2.1
err2023-11-01
err1
PREAI
errAhmad, Natalie; Fazeli, Walid; Schliesske, Sophia; Lesca, Gaetan; Gokce-Samar, Zeynep; Mekbib, Kedous Y.; Jin, Sheng Chih; Burton, Jennifer; Hoganson, George; Petersen, Andrea; Gracie, Sara; Granger, Leslie; Bartels, Enrika; Oppermann, Henry; Kundishora, Adam; Till, Marianne; Milleret-Pignot, Clara; Danger, Shane; Viskochil, David; Anderson, Katherine J.; Palculict, Timothy Blake; Schnur, Rhonda E.; Wentzensen, Ingrid M.; Tiller, George E.; Kahle, Kristopher T.; Kunz, Wolfram S.; Burkart, Sebastian; Simons, Matias; Sticht, Heinrich; Abou Jamra, Rami; Neuser, Sonja
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A likely HOXC4 predisposition variant for Chiari malformations
errJOURNAL OF NEUROSURGERY
IF3.6
err2023-07-01
err3
errOAAI
errBrockmeyer, Douglas L.; Cheshier, Samuel H.; Stevens, Jeff; Facelli, Julio C.; Rowe, Kerry; Heiss, John D.; Musolf, Anthony; Viskochil, David H.; Allen-Brady, Kristina L.; Cannon-Albright, Lisa A.
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Intranasal Carbetocin Reduces Hyperphagia, Anxiousness, and Distress in Prader-Willi Syndrome: CARE-PWS Phase 3 Trial
errJOURNAL OF CLINICAL ENDOCRINOLOGY & METABOLISM
IF5.1
err2023-01-12
err17
errOAAI
errRoof, Elizabeth; Deal, Cheri L.; McCandless, Shawn E.; Cowan, Ronald L.; Miller, Jennifer L.; Hamilton, Jill K.; Roeder, Elizabeth R.; McCormack, Shana E.; Lal, Tamanna R. Roshan; Abdul-Latif, Hussein D.; Haqq, Andrea M.; Obrynba, Kathryn S.; Torchen, Laura C.; Vidmar, Alaina P.; Viskochil, David H.; Chanoine, Jean-Pierre; Lam, Carol K. L.; Pierce, Melinda J.; Williams, Laurel L.; Bird, Lynne M.; Butler, Merlin G.; Jensen, Diane E.; Myers, Susan E.; Oatman, Oliver J.; Baskaran, Charumathi; Chalmers, Laura J.; Fu, Cary; Alos, Nathalie; McLean, Scott D.; Shah, Ajay; Whitman, Barbara Y.; Blumenstein, Brent A.; Leonard, Sarah F.; Ernest, Jessica P.; Cormier, Joseph W.; Cotter, Sara P.; Ryman, Davis C.
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Genomic Patterns of Malignant Peripheral Nerve Sheath Tumor (MPNST) Evolution Correlate with Clinical Outcome and Are Detectable in Cell-Free DNA
errCANCER DISCOVERY
IF33.3
err2023-01-04
err32
errOAAI
errCortes-Ciriano, Isidro; Steele, Christopher D.; Piculell, Katherine; Al-Ibraheemi, Alyaa; Eulo, Vanessa; Bui, Marilyn M.; Chatzipli, Aikaterini; Dickson, Brendan C.; Borcherding, Dana C.; Feber, Andrew; Galor, Alon; Hart, Jesse; Jones, Kevin B.; Jordan, Justin T.; Kim, Raymond H.; Lindsay, Daniel; Miller, Colin; Nishida, Yoshihiro; Proszek, Paula Z.; Serrano, Jonathan; Sundby, Taylor; Szymanski, Jeffrey J.; Ullrich, Nicole J.; Viskochil, David; Wang, Xia; Snuderl, Matija; Park, Peter J.; Flanagan, Adrienne M.; Hirbe, Angela C.; Pillay, Nischalan; Miller, David T.
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Updated diagnostic criteria and nomenclature for neurofibromatosis type 2 and schwannomatosis: An international consensus recommendation
errGENETICS IN MEDICINE
IF6.2
err2022-09-01
err90
errOAAI
errPlotkin, Scott R.; Messiaen, Ludwine; Legius, Eric; Pancza, Patrice; Avery, Robert A.; Blakeley, Jaishri O.; Babovic-Vuksanovic, Dusica; Ferner, Rosalie; Fisher, Michael J.; Friedman, Jan M.; Giovannini, Marco; Gutmann, David H.; Hanemann, Clemens Oliver; Kalamarides, Michel; Kehrer-Sawatzki, Hildegard; Korf, Bruce R.; Mautner, Victor-Felix; MacCollin, Mia; Papi, Laura; Rauen, Katherine A.; Riccardi, Vincent; Schorry, Elizabeth; Smith, Miriam J.; Stemmer-Rachamimov, Anat; Stevenson, David A.; Ullrich, Nicole J.; Viskochil, David; Wimmer, Katharina; Yohay, Kaleb; Huson, Susan M.; Wolkenstein, Pierre; Evans, D. Gareth
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Long-term efficacy and safety of vestronidase alfa enzyme replacement therapy in pediatric subjects < 5 years with mucopolysaccharidosis VII
errMOLECULAR GENETICS AND METABOLISM
IF3.5
err2022-05-01
err5
errOAAI
errLau, Heather A.; Viskochil, David; Tanpaiboon, Pranoot; Gonzalez-Meneses Lopez, Antonio; Martins, Esmeralda; Taylor, Julie; Malkus, Betsy; Zhang, Lin; Jurecka, Agnieszka; Marsden, Deborah
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errSave
Gene.iobio: an interactive web tool for versatile, clinically-driven variant interrogation and prioritization (vol 11, 20307, 2021)
errSCIENTIFIC REPORTS
IF3.9
err2022-04-06
err0
errOAAI
errDi Sera, Tonya; Velinder, Matt; Ward, Alistair; Qiao, Yi; Georges, Stephanie; Miller, Chase; Pitman, Anders; Richards, Will; Ekawade, Aditya; Viskochil, David; Carey, John C.; Pace, Laura; Bale, Jim; Clardy, Stacey L.; Andrews, Ashley; Botto, Lorenzo; Marth, Gabor
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Research Directions

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