David H. Viskochil
Rating: 5.0 of 5
( out of 23 reviews )

David H. Viskochil, MD, PhD

Languages spoken: English

Clinical Locations

Primary Location

Utah Department of Health

Children with Special Health Care Needs
44 N Mario Capecchi Drive
Salt Lake City , UT 84114
801-213-3599
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Eccles Primary Children's Outpatient Services

81 N Mario Capecchi Drive
Salt Lake City , UT 84113
801-213-3599
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Primary Children's Hospital Outpatient Services at Riverton

3773 West 12600 South
Riverton , UT 84065
801-213-3599
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  • David Viskochil, MD, PhD, is professor of pediatrics and one of the clinical geneticists in the Division of Medical Genetics. He received his bachelor's degree in biology from the University of Arizona, and his doctorate in biochemistry and medical degree from the University of North Carolina 1985. He completed his pediatric residency and clinical genetics fellowship at the University of Utah Affiliated Hospitals.

    His research has focused on the molecular genetics of the neurofibromatosis type 1 (NF1) gene, and bone health and cancer malignancy in patients with NF1. He performs translational research in NF1-related manifestations, and is the local principal investigator for the NF Clinical Trials Consortium. He is involved in clinical trials for NF1 and lysosomal storage disorders. He was the recipient of a Young Investigator Award from the National Neurofibromatosis Foundation (NNFF) and a K-08 award for NF1-related research. Ongoing funding has come from the Department of Defense NF Research Program, NINDS of the NIH, and the Shriners Research Foundation. He has published over 50 research and clinical reports and serves on study sections for the Department of Defense and NIH.

    David has an academic clinical practice that includes genetics patients who access care through Primary Children's Medical Center, Huntsman Cancer Institute, the University of Utah Neurosciences Center (Adult NF Clinic), and the Shriners Hospital. He serves as co-Director of the NF Clinic at the University of Utah and is the Director of Clinical Genetics Services in the Division of Medical Genetics.

    David's administrative roles are varied and include University and national positions. He serves as Chair of the Clinical Care Advisory Board of the Children's Tumor Foundation (national NF support organization), Chair of the Utah State Department of Health Genetic Advisory Committee, and is member on the Advisory Board for the Mucopolysaccharidosis I Registry. He serves as Medical Director for the University of Utah Graduate Program in Genetic Counseling, and is one of the associate editors of the American Journal of Medical Genetics. He serves on the IRB for the University of Utah, and he supervises the Clinical Genetics Research Program embedded in the Center for Clinical Translational Science at the University of Utah. David shoots hoops and plays golf.

    Specialties

    Patient Rating

    Rating: 5.0 out of 5
    5.0 /5
    ( out of 23 reviews )

    The patient rating score is an average of all responses on our patient experience survey. The rating averages scores for all questions about care from our providers.

    The scale on which responses are measured is 1 to 5 with 5 being the best score.

    Patient Comments

    Patient comments are gathered from our patient experience survey and displayed in their entirety. For the convenience of our visitors, some patient comments have been translated from their original language into English while preserving their original meaning as accurately as possible. Patients are de-identified for confidentiality and patient privacy.

    PRIMARY CHILDREN'S OUTPATIENT SERVICES
    Rating: 5 out of 5

    The Doctor was a profesional provider. He anwer most of my question in the good way.

    EXTERNAL SITE
    Rating: 5 out of 5

    My son and I are very fortunate to have him helping us. He is very kind and caring. He listened to my co cerns and took the time to help me understand what we are dealing with, and to get the proper help we need. Thank you.

  • David Viskochil, MD, PhD, is professor of pediatrics and one of the clinical geneticists in the Division of Medical Genetics. He received his bachelor's degree in biology from the University of Arizona, and his doctorate in biochemistry and medical degree from the University of North Carolina 1985. He completed his pediatric residency and clinical genetics fellowship at the University of Utah Affiliated Hospitals.

    His research has focused on the molecular genetics of the neurofibromatosis type 1 (NF1) gene, and bone health and cancer malignancy in patients with NF1. He performs translational research in NF1-related manifestations, and is the local principal investigator for the NF Clinical Trials Consortium. He is involved in clinical trials for NF1 and lysosomal storage disorders. He was the recipient of a Young Investigator Award from the National Neurofibromatosis Foundation (NNFF) and a K-08 award for NF1-related research. Ongoing funding has come from the Department of Defense NF Research Program, NINDS of the NIH, and the Shriners Research Foundation. He has published over 50 research and clinical reports and serves on study sections for the Department of Defense and NIH.

    David has an academic clinical practice that includes genetics patients who access care through Primary Children's Medical Center, Huntsman Cancer Institute, the University of Utah Neurosciences Center (Adult NF Clinic), and the Shriners Hospital. He serves as co-Director of the NF Clinic at the University of Utah and is the Director of Clinical Genetics Services in the Division of Medical Genetics.

    David's administrative roles are varied and include University and national positions. He serves as Chair of the Clinical Care Advisory Board of the Children's Tumor Foundation (national NF support organization), Chair of the Utah State Department of Health Genetic Advisory Committee, and is member on the Advisory Board for the Mucopolysaccharidosis I Registry. He serves as Medical Director for the University of Utah Graduate Program in Genetic Counseling, and is one of the associate editors of the American Journal of Medical Genetics. He serves on the IRB for the University of Utah, and he supervises the Clinical Genetics Research Program embedded in the Center for Clinical Translational Science at the University of Utah. David shoots hoops and plays golf.

    Board Certification and Academic Information

    Academic Departments Pediatrics -Professor
    Academic Divisions Medical Genetics

    Education history

    Undergraduate Biology - University of Arizona B.S.
    Doctoral Training Biochemistry - University of North Carolina Ph.D.
    Professional Medical Medicine - University of North Carolina M.D.
    Externship Genetics - National Institutes of Health Externship
    Internship Pediatrics - University of Utah School of Medicine Intern
    Residency Pediatrics - University of Utah School of Medicine Resident
    Fellowship Medical Genetics - University of Utah School of Medicine Fellow

    Selected Publications

    Journal Article

    1. Purandare SM, Cawthon R, Nelson LM, Sawada S, Watkins WS, Ward K, Jorde LB, Viskochil DH (1996). Genotyping of PCR-based polymorphisms and linkage-disequilibrium analysis at the NF1 locus. Am J Hum Genet, 59(1), 159-66. (Read full publication)
    2. Toydemir RM, Brassington AE, Bayrak-Toydemir P, Krakowiak PA, Jorde LB, Whitby FG, Longo N, Viskochil DH, Carey JC, Bamshad M (2006). A novel mutation in FGFR3 causes camptodactyly, tall stature, and hearing loss (CATSHL) syndrome. American journal of human genetics, 79(5), 935-41. (Read full publication)
    3. Brancati F, Barrano G, Silhavy JL, Marsh SE, Travaglini L, Bielas SL, Amorini M, Zablocka D, Kayserili H, Al-Gazali L, Bertini E, Boltshauser E, D'Hooghe M, Fazzi E, Fenerci EY, Hennekam RC, Kiss A, Lees MM, Marco E, Phadke SR, Rigoli L, Romano S, Salpietro CD, Sherr EH, Signorini S, Stromme P, Stuart B, Sztriha L, Viskochil DH, Yuksel A, Dallapiccola B, Valente EM, Gleeson J (2007). CEP290 mutations are frequently identified in the oculo-renal form of Joubert syndrome-related disorders. American journal of human genetics, 81(1), 104-13. (Read full publication)
    4. Viskochil DH, Carey JC, Glader BE, Rothstein G, Christensen R (1990). Congenital hypoplastic (Diamond-Blackfan) anemia in seven members of one kindred. American journal of medical genetics, 35(2), 251-6. (Read full publication)
    5. Leppig KA, Kaplan P, Viskochil D, Weaver M, Ortenberg J, Stephens (1997). Familial neurofibromatosis 1 microdeletions: cosegregation with distinct facial phenotype and early onset of cutaneous neurofibromata. American journal of medical genetics, 73(2), 197-204. (Read full publication)
    6. Stevenson DA, Birch PH, Friedman JM, Viskochil DH, Balestrazzi P, Boni S, Buske A, Korf BR, Niimura M, Pivnick EK, Schorry EK, Short MP, Tenconi R, Tonsgard JH, Carey J (1999). Descriptive analysis of tibial pseudarthrosis in patients with neurofibromatosis 1. American journal of medical genetics, 84(5), 413-9. (Read full publication)
    7. Viskochil (1999). Neurofibromatosis 1. American journal of medical genetics, 89(1), V-VIII. (Read full publication)
    8. Viskochil (1999). Neurofibromatosis 1. Introduction. American journal of medical genetics, 89(1), v-viii. (Read full publication)
    9. Adderson EE, Viskochil DH, Carey JC, Shigeoka AO, Christenson JC, Bohnsack JF, Hill H (2000). Growth failure, intracranial calcifications, acquired pancytopenia, and unusual humoral immunodeficiency: a genetic syndrome?. American journal of medical genetics, 95(1), 17-20. (Read full publication)
    10. Zhou H, Coffin CM, Perkins SL, Tripp SR, Liew M, Viskochil D (2003). Malignant peripheral nerve sheath tumor: a comparison of grade, immunophenotype, and cell cycle/growth activation marker expression in sporadic and neurofibromatosis 1-related lesions. The American journal of surgical pathology, 27(10), 1337-45. (Read full publication)
    11. Ho KC, Snoek R, Quarmby V, Viskochil DH, Rennie PS, Wilson EM, French FS, Bruchovsky (1989). Primary structure and androgen regulation of a 20-kilodalton protein specific to rat ventral prostate. Biochemistry, 28(15), 6367-73. (Read full publication)
    12. Christensen RD, Koenig JM, Viskochil DH, Rothstein (1989). Down-modulation of neutrophil production by erythropoietin in human hematopoietic clones. Blood, 74(2), 817-22. (Read full publication)
    13. Gazda H, Lipton JM, Willig TN, Ball S, Niemeyer CM, Tchernia G, Mohandas N, Daly MJ, Ploszynska A, Orfali KA, Vlachos A, Glader BE, Rokicka-Milewska R, Ohara A, Baker D, Pospisilova D, Webber A, Viskochil DH, Nathan DG, Beggs AH, Sieff C (2001). Evidence for linkage of familial Diamond-Blackfan anemia to chromosome 8p23.3-p22 and for non-19q non-8p disease. Blood, 97(7), 2145-50. (Read full publication)
    14. Stevenson DA, Viskochil DH, Carey JC, Slater H, Murray M, Sheng X, D'Astous J, Hanson H, Schorry E, Moyer-Mileur L (2009). Tibial geometry in individuals with neurofibromatosis type 1 without anterolateral bowing of the lower leg using peripheral quantitative computed tomography. Bone, 44(4), 585-9. (Read full publication)
    15. Gazda HT, Zhong R, Long L, Niewiadomska E, Lipton JM, Ploszynska A, Zaucha JM, Vlachos A, Atsidaftos E, Viskochil DH, Niemeyer CM, Meerpohl JJ, Rokicka-Milewska R, Pospisilova D, Wiktor-Jedrzejczak W, Nathan DG, Beggs AH, Sieff C (2004). RNA and protein evidence for haplo-insufficiency in Diamond-Blackfan anaemia patients with RPS19 mutations. British journal of haematology, 127(1), 105-13. (Read full publication)
    16. Wallace MR, Andersen LB, Fountain JW, Odeh HM, Viskochil D, Marchuk DA, O'Connell P, White R, Collins F (1990). A chromosome jump crosses a translocation breakpoint in the von Recklinghausen neurofibromatosis region. Genes, chromosomes & cancer, 2(4), 271-7. (Read full publication)
    17. Schell U, Hehr A, Feldman GJ, Robin NH, Zackai EH, de Die-Smulders C, Viskochil DH, Stewart JM, Wolff G, Ohashi H, et al (1995). Mutations in FGFR1 and FGFR2 cause familial and sporadic Pfeiffer syndrome. Human molecular genetics, 4(3), 323-8. (Read full publication)
    18. Sawada S, Florell S, Purandare SM, Ota M, Stephens K, Viskochil (1996). Identification of NF1 mutations in both alleles of a dermal neurofibroma. Nature genetics, 14(1), 110-2. (Read full publication)
    19. Costa RM, Yang T, Huynh DP, Pulst SM, Viskochil DH, Silva AJ, Brannan C (2001). Learning deficits, but normal development and tumor predisposition, in mice lacking exon 23a of Nf1. Nature genetics, 27(4), 399-405. (Read full publication)
    20. Battaglia A, Carey JC, Viskochil DH, Cederholm P, Opitz J (2000). Wolf-Hirschhorn syndrome (WHS): a history in pictures. Clinical dysmorphology, 9(1), 25-30. (Read full publication)
    21. Xu GF, O'Connell P, Viskochil D, Cawthon R, Robertson M, Culver M, Dunn D, Stevens J, Gesteland R, White R, et al (1990). The neurofibromatosis type 1 gene encodes a protein related to GAP. Cell, 62(3), 599-608. (Read full publication)
    22. Martin GA, Viskochil D, Bollag G, McCabe PC, Crosier WJ, Haubruck H, Conroy L, Clark R, O'Connell P, Cawthon RM, et al (1990). The GAP-related domain of the neurofibromatosis type 1 gene product interacts with ras p21. Cell, 63(4), 843-9. (Read full publication)
    23. Leppig KA, Viskochil D, Neil S, Rubenstein A, Johnson VP, Zhu XL, Brothman AR, Stephens (1996). The detection of contiguous gene deletions at the neurofibromatosis 1 locus with fluorescence in situ hybridization. Cytogenetics and cell genetics, 72(1), 95-8. (Read full publication)
    24. Gazda H,Lipton JM,Willig TN,Ball S,Niemeyer CM,Tchernia G,Mohandas N,Daly MJ,Ploszynska A,Vlachos A,Glader BE,Orfali KA,Rokicka-Milewska R,Ohara A,Pospisilova D,Baker D,Webber A,Viskochil DH,Nathan DG,Beggs AH,Sieff C (2000). Evidence for a second diamond-blackfan anemia gene on human chromosome 8p23-22, and for at least one other dba gene. Experimental hematology, 28(12), 1493. (Read full publication)
    25. Cawthon RM, Andersen LB, Buchberg AM, Xu GF, O'Connell P, Viskochil D, Weiss RB, Wallace MR, Marchuk DA, Culver M, et al (1991). cDNA sequence and genomic structure of EV12B, a gene lying within an intron of the neurofibromatosis type 1 gene. Genomics, 9(3), 446-60. (Read full publication)
    26. O'Connell P, Viskochil D, Buchberg AM, Fountain J, Cawthon RM, Culver M, Stevens J, Rich DC, Ledbetter DH, Wallace M, et al (1990). The human homolog of murine Evi-2 lies between two von Recklinghausen neurofibromatosis translocations. Genomics, 7(4), 547-54. (Read full publication)
    27. Cawthon RM, O'Connell P, Buchberg AM, Viskochil D, Weiss RB, Culver M, Stevens J, Jenkins NA, Copeland NG, White (1990). Identification and characterization of transcripts from the neurofibromatosis 1 region: the sequence and genomic structure of EVI2 and mapping of other transcripts. Genomics, 7(4), 555-65. (Read full publication)
    28. Li Y, O'Connell P, Breidenbach HH, Cawthon R, Stevens J, Xu G, Neil S, Robertson M, White R, Viskochil (1995). Genomic organization of the neurofibromatosis 1 gene (NF1). Genomics, 25(1), 9-18. (Read full publication)
    29. Purandare SM, Huntsman Breidenbach H, Li Y, Zhu XL, Sawada S, Neil SM, Brothman A, White R, Cawthon R, Viskochil (1995). Identification of neurofibromatosis 1 (NF1) homologous loci by direct sequencing, fluorescence in situ hybridization, and PCR amplification of somatic cell hybrids. Genomics, 30(3), 476-85. (Read full publication)
    30. Viskochil DH, Perry ST, Lea OA, Stafford DW, Wilson EM, French F (1983). Isolation of two genomic sequences encoding the Mr = 14,000 subunit of rat prostatein. The Journal of biological chemistry, 258(14), 8861-6. (Read full publication)
    31. DeClue JE, Heffelfinger S, Benvenuto G, Ling B, Li S, Rui W, Vass WC, Viskochil D, Ratner (2000). Epidermal growth factor receptor expression in neurofibromatosis type 1-related tumors and NF1 animal models. The Journal of clinical investigation, 105(9), 1233-41. (Read full publication)
    32. O'Connell P, Cawthon R, Xu GF, Li Y, Viskochil D, White (1992). The neurofibromatosis type 1 (NF1) gene: identification and partial characterization of a putative tumor suppressor gene. The Journal of dermatology, 19(11), 881-4. (Read full publication)
    33. Harris CP, Townsend JJ, Norman MG, White VA, Viskochil DH, Pysher TJ, Klatt E (1994). Atelencephalic aprosencephaly. Journal of child neurology, 9(4), 412-6. (Read full publication)
    34. Upadhyaya M, Cheryson A, Broadhead W, Fryer A, Shaw DJ, Huson S, Wallace MR, Andersen LB, Marchuk DA, Viskochil D, et al (1990). A 90 kb DNA deletion associated with neurofibromatosis type 1. Journal of medical genetics, 27(12), 738-41. (Read full publication)
    35. Swensen JJ, Keyser J, Coffin CM, Biegel JA, Viskochil DH, Williams M (2009). Familial occurrence of schwannomas and malignant rhabdoid tumour associated with a duplication in SMARCB1. Journal of medical genetics, 46(1), 68-72. (Read full publication)
    36. Fuller BB, Viskochil D (1979). The role of RNA and protein synthesis in mediating the action of MSH on mouse melanoma cells. Life sciences, 24(26), 2405-15. (Read full publication)
    37. Stevenson DA, Schwarz EL, Viskochil DH, Moyer-Mileur LJ, Murray M, Firth SD, D'Astous JL, Carey JC, Pasquali (2008). Evidence of increased bone resorption in neurofibromatosis type 1 using urinary pyridinium crosslink analysis. Pediatric research, 63(6), 697-701. (Read full publication)
    38. Battaglia A, Carey JC, Cederholm P, Viskochil DH, Brothman AR, Galasso (1999). Natural history of Wolf-Hirschhorn syndrome: experience with 15 cases. Pediatrics, 103(4 Pt 1), 830-6. (Read full publication)
    39. Wilson EM, Viskochil DH, Bartlett RJ, Lea OA, Noyes CM, Petrusz P, Stafford DW, French F (1981). Model systems for studies on androgen-dependent gene expression in the rat prostate. Progress in clinical and biological research, 75A, 351-80. (Read full publication)
    40. O'Connell P, Leach R, Cawthon RM, Culver M, Stevens J, Viskochil D, Fournier RE, Rich DC, Ledbetter DH, White (1989). Two NF1 translocations map within a 600-kilobase segment of 17q11.2. Science (New York, N.Y.), 244(4908), 1087-8. (Read full publication)
    41. Stevenson DA, Viskochil DH, Schorry EK, Crawford AH, D'Astous J, Murray KA, Friedman JM, Armstrong L, Carey J (2007). The use of anterolateral bowing of the lower leg in the diagnostic criteria for neurofibromatosis type 1. Genetics in medicine, 9(7), 409-12. (Read full publication)
    42. Stevenson DA, Moyer-Mileur LJ, Carey JC, Quick JL, Hoff CJ, Viskochil D (2005). Case-control study of the muscular compartments and osseous strength in neurofibromatosis type 1 using peripheral quantitative computed tomography. Journal of musculoskeletal & neuronal interactions, 5(2), 145-9. (Read full publication)
    43. Stevenson DA, Viskochil DH, Carey J (2007). Neurofibromatosis type 1 is a genetic skeletal disorder. American journal of medical genetics. Part A, 143(17), 2082-3. (Read full publication)
    44. Carey JC, Viskochil D (2007). Status of the human malformation map: 2007. American journal of medical genetics. Part A, 143A(24), 2868-85. (Read full publication)
    45. Chen Y, Dawes R, Kim HC, Ljungdahl A, Stenton SL, Walker S, Lord J, Lemire G, Martin-Geary AC, Ganesh VS, Ma J, Ellingford JM, Delage E, D'Souza EN, Dong S, Adams DR, Allan K, Bakshi M, Baldwin EE, Berger SI, Bernstein JA, Bhatnagar I, Blair E, Brown NJ, Burrage LC, Chapman K, Coman DJ, Compton AG, Cunningham CA, D'Souza P, Danecek P, Délot EC, Dias KR, Elias ER, Elmslie F, Evans CA, Ewans L, Ezell K, Fraser JL, Gallacher L, Genetti CA, Goriely A, Grant CL, Haack T, Higgs JE, Hinch AG, Hurles ME, Kuechler A, Lachlan KL, Lalani SR, Lecoquierre F, Leitão E, Fevre AL, Leventer RJ, Liebelt JE, Lindsay S, Lockhart PJ, Ma AS, Macnamara EF, Mansour S, Maurer TM, Mendez HR, Metcalfe K, Montgomery SB, Moosajee M, Nassogne MC, Neumann S, O'Donoghue M, O'Leary M, Palmer EE, Pattani N, Phillips J, Pitsava G, Pysar R, Rehm HL, Reuter CM, Revencu N, Riess A, Rius R, Rodan L, Roscioli T, Rosenfeld JA, Sachdev R, Shaw-Smith CJ, Simons C, Sisodiya SM, Snell P, St Clair L, Stark Z, Stewart HS, Tan TY, Tan NB, Temple SEL, Thorburn DR, Tifft CJ, Uebergang E, VanNoy GE, Vasudevan P, Vilain E, Viskochil DH, Wedd L, Wheeler MT, White SM, Wojcik M, Wolfe LA, Wolfenson Z, Wright CF, Xiao C, Zocche D, Rubenstein JL, Markenscoff-Papadimitriou E, Fica SM, Baralle D, Depienne C, MacArthur DG, Howson JMM, Sanders SJ, O'Donnell-Luria A, Whiffin (2024). De novo variants in the RNU4-2 snRNA cause a frequent neurodevelopmental syndrome. Nature, 632(8026), 832-840. (Read full publication)
    46. Schwartz CE, Aylsworth AS, Allanson J, Battaglia A, Carey JC, Curry CJ, Davies KE, Eichler EE, Graham JM Jr, Hall B, Hall JG, Holmes LB, Hoyme HE, Hunter A, Innis J, Johnson J, Keppler-Noreuil KM, Leroy JG, Moore C, Nelson DL, Neri G, Opitz JM, Picketts D, Raymond FL, Shalev SA, Stevenson RE, Stumpel CTRM, Sutherland G, Viskochil DH, Weaver DD, Zackai E (2024). Personal journeys to and in human genetics and dysmorphology. American journal of medical genetics. Part A, 194(6), e63514. (Read full publication)
    47. Chen Y, Dawes R, Kim HC, Stenton SL, Walker S, Ljungdahl A, Lord J, Ganesh VS, Ma J, Martin-Geary AC, Lemire G, D'Souza EN, Dong S, Ellingford JM, Adams DR, Allan K, Bakshi M, Baldwin EE, Berger SI, Bernstein JA, Brown NJ, Burrage LC, Chapman K, Compton AG, Cunningham CA, D'Souza P, Délot EC, Dias KR, Elias ER, Evans CA, Ewans L, Ezell K, Fraser JL, Gallacher L, Genetti CA, Grant CL, Haack T, Kuechler A, Lalani SR, Leitão E, Fevre AL, Leventer RJ, Liebelt JE, Lockhart PJ, Ma AS, Macnamara EF, Maurer TM, Mendez HR, Montgomery SB, Nassogne MC, Neumann S, O'Leary M, Palmer EE, Phillips J, Pitsava G, Pysar R, Rehm HL, Reuter CM, Revencu N, Riess A, Rius R, Rodan L, Roscioli T, Rosenfeld JA, Sachdev R, Simons C, Sisodiya SM, Snell P, Clair L, Stark Z, Tan TY, Tan NB, Temple SE, Thorburn DR, Tifft CJ, Uebergang E, VanNoy GE, Vilain E, Viskochil DH, Wedd L, Wheeler MT, White SM, Wojcik M, Wolfe LA, Wolfenson Z, Xiao C, Zocche D, Rubenstein JL, Markenscoff-Papadimitriou E, Fica SM, Baralle D, Depienne C, MacArthur DG, Howson JM, Sanders SJ, O'Donnell-Luria A, Whiffin (2024). De novo variants in the non-coding spliceosomal snRNA gene RNU4-2 are a frequent cause of syndromic neurodevelopmental disorders. (Read full publication)
    48. Brockmeyer DL, Cheshier SH, Stevens J, Facelli JC, Rowe K, Heiss JD, Musolf A, Viskochil DH, Allen-Brady KL, Cannon-Albright L (2022). A likely HOXC4 predisposition variant for Chiari malformations. Journal of neurosurgery, 139(1), 266-274. (Read full publication)
    49. Roof E, Deal CL, McCandless SE, Cowan RL, Miller JL, Hamilton JK, Roeder ER, McCormack SE, Roshan Lal TR, Abdul-Latif HD, Haqq AM, Obrynba KS, Torchen LC, Vidmar AP, Viskochil DH, Chanoine JP, Lam CKL, Pierce MJ, Williams LL, Bird LM, Butler MG, Jensen DE, Myers SE, Oatman OJ, Baskaran C, Chalmers LJ, Fu C, Alos N, McLean SD, Shah A, Whitman BY, Blumenstein BA, Leonard SF, Ernest JP, Cormier JW, Cotter SP, Ryman D (2023). Intranasal Carbetocin Reduces Hyperphagia, Anxiousness, and Distress in Prader-Willi Syndrome: CARE-PWS Phase 3 Trial. The Journal of clinical endocrinology and metabolism, 108(7), 1696-1708. (Read full publication)
    50. Ullrich NJ, Prabhu SP, Reddy AT, Fisher MJ, Packer R, Goldman S, Robison NJ, Gutmann DH, Viskochil DH, Allen JC, Korf B, Cantor A, Cutter G, Thomas C, Perentesis JP, Mizuno T, Vinks AA, Manley PE, Chi SN, Kieran M (2020). A phase II study of continuous oral mTOR inhibitor everolimus for recurrent, radiographic-progressive neurofibromatosis type 1-associated pediatric low-grade glioma: a Neurofibromatosis Clinical Trials Consortium study. Neuro-oncology, 22(10), 1527-1535. (Read full publication)
    51. Margraf RL, VanSant-Webb C, Mao R, Viskochil DH, Carey J, Hanson H, D'Astous J, Grossmann A, Stevenson D (2019). NF1 Somatic Mutation in Dystrophic Scoliosis. Journal of molecular neuroscience, 68(1), 11-18. (Read full publication)
    52. Peckham-Gregory EC, Montenegro RE, Stevenson DA, Viskochil DH, Scheurer ME, Lupo PJ, Schiffman J (2018). Racial/ethnic disparities and incidence of malignant peripheral nerve sheath tumors: results from the Surveillance, Epidemiology, and End Results Program, 2000-2014. Journal of neuro-oncology, 139(1), 69-75. (Read full publication)
    53. Peron A, Vignoli A, Briola F, Morenghi E, Tansini L, Alfano RM, Bulfamante G, Terraneo S, Ghelma F, Banderali G, Viskochil DH, Carey JC, Canevini MP, TSC Study Group of the San Paolo Hospital of Mila (2018). Deep phenotyping of patients with Tuberous Sclerosis Complex and no mutation identified in TSC1 and TSC2. European journal of medical genetics, 61(7), 403-410. (Read full publication)
    54. Peckham-Gregory EC, Montenegro RE, Stevenson DA, Viskochil DH, Scheurer ME, Lupo PJ, Schiffman J (2018). Evaluation of racial disparities in pediatric optic pathway glioma incidence: Results from the Surveillance, Epidemiology, and End Results Program, 2000-2014. Cancer epidemiology, 54, 90-94. (Read full publication)
    55. DeMille D, Carlston CM, Tam OH, Palumbos JC, Stalker HJ, Mao R, Zori RT, Viskochil DH, Park AH, Carey J (2018). Three novel GJB2 (connexin 26) variants associated with autosomal dominant syndromic and nonsyndromic hearing loss. American journal of medical genetics. Part A, 176(4), 945-950. (Read full publication)
    56. Sites ER, Smolarek TA, Martin LJ, Viskochil DH, Stevenson DA, Ullrich NJ, Messiaen LM, Schorry E (2017). Analysis of copy number variants in 11 pairs of monozygotic twins with neurofibromatosis type 1. American journal of medical genetics. Part A, 173(3), 647-653. (Read full publication)
    57. Sant DW, Margraf RL, Stevenson DA, Grossmann AH, Viskochil DH, Hanson H, Everitt MD, Rios JJ, Elefteriou F, Hennessey T, Mao (2015). Evaluation of somatic mutations in tibial pseudarthrosis samples in neurofibromatosis type 1. Journal of medical genetics, 52(4), 256-61. (Read full publication)
    58. Tvrdik T, Mason D, Dent KM, Thornton L, Hornton SN, Viskochil DH, Stevenson D (2015). Stress and coping in parents of children with Prader-Willi syndrome: Assessment of the impact of a structured plan of care. American journal of medical genetics. Part A, 167A(5), 974-82. (Read full publication)
    59. Gripp KW, Sol-Church K, Smpokou P, Graham GE, Stevenson DA, Hanson H, Viskochil DH, Baker LC, Russo B, Gardner N, Stabley DL, Kolbe V, Rosenberger (2015). An attenuated phenotype of Costello syndrome in three unrelated individuals with a HRAS c.179G>A (p.Gly60Asp) mutation correlates with uncommon functional consequences. American journal of medical genetics. Part A, 167A(9), 2085-97. (Read full publication)
    60. Carroll KL, Schiffern AN, Murray KA, Stevenson DA, Viskochil DH, Toydemir R, MacWilliams BA, Roach J (2016). The Occurrence of Occult Acetabular Dysplasia in Relatives of Individuals With Developmental Dysplasia of the Hip. Journal of pediatric orthopedics, 36(1), 96-100. (Read full publication)
    61. Bernthal NM, Jones KB, Monument MJ, Liu T, Viskochil D, Randall R (2013). Lost in translation: ambiguity in nerve sheath tumor nomenclature and its resultant treatment effect. Cancers, 5(2), 519-28. (Read full publication)
    62. Hopman SM, Merks JH, de Borgie CA, Aalfs CM, Biesecker LG, Cole T, Eng C, Legius E, Maher ER, van Noesel MM, Verloes A, Viskochil DH, Wagner A, Weksberg R, Caron HN, Hennekam R (2013). The development of a clinical screening instrument for tumour predisposition syndromes in childhood cancer patients. European journal of cancer (Oxford, England, 49(15), 3247-54. (Read full publication)
    63. Shuvarikov A, Campbell IM, Dittwald P, Neill NJ, Bialer MG, Moore C, Wheeler PG, Wallace SE, Hannibal MC, Murray MF, Giovanni MA, Terespolsky D, Sodhi S, Cassina M, Viskochil D, Moghaddam B, Herman K, Brown CW, Beck CR, Gambin A, Cheung SW, Patel A, Lamb AN, Shaffer LG, Ellison JW, Ravnan JB, Stankiewicz P, Rosenfeld J (2013). Recurrent HERV-H-mediated 3q13.2-q13.31 deletions cause a syndrome of hypotonia and motor, language, and cognitive delays. Human mutation, 34(10), 1415-23. (Read full publication)
    64. Polgreen LE, Thomas W, Fung E, Viskochil D, Stevenson DA, Steinberger J, Orchard P, Whitley CB, Ensrud K (2014). Low bone mineral content and challenges in interpretation of dual-energy X-ray absorptiometry in children with mucopolysaccharidosis types I, II, and VI. Journal of clinical densitometry, 17(1), 200-6. (Read full publication)
    65. Bogarapu S, Bleyl SB, Calhoun A, Viskochil D, Saarel EV, Everitt MD, Frank D (2014). Phenotype of a patient with contiguous deletion of TBX5 and TBX3: expanding the disease spectrum. American journal of medical genetics. Part A, 164A(5), 1304-9. (Read full publication)
    66. Bernthal NM, Putnam A, Jones KB, Viskochil D, Randall R (2014). The effect of surgical margins on outcomes for low grade MPNSTs and atypical neurofibroma. Journal of surgical oncology, 110(7), 813-6. (Read full publication)
    67. Paria N, Cho TJ, Choi IH, Kamiya N, Kayembe K, Mao R, Margraf RL, Obermosser G, Oxendine I, Sant DW, Song MH, Stevenson DA, Viskochil DH, Wise CA, Kim HK, Rios J (2014). Neurofibromin deficiency-associated transcriptional dysregulation suggests a novel therapy for tibial pseudoarthrosis in NF1. Journal of bone and mineral research, 29(12), 2636-42. (Read full publication)
    68. Tinker J, Carbone PS, Viskochil D, Mathiesen A, Ma KN, Stevenson D (2014). Screening children with neurofibromatosis type 1 for autism spectrum disorder. American journal of medical genetics. Part A, 164A(7), 1706-12. (Read full publication)
    69. Weiss B, Widemann BC, Wolters P, Dombi E, Vinks A, Cantor A, Perentesis J, Schorry E, Ullrich N, Gutmann DH, Tonsgard J, Viskochil D, Korf B, Packer RJ, Fisher M (2015). Sirolimus for progressive neurofibromatosis type 1-associated plexiform neurofibromas: a neurofibromatosis Clinical Trials Consortium phase II study. Neuro-oncology, 17(4), 596-603. (Read full publication)
    70. Warrington NM, Sun T, Luo J, McKinstry RC, Parkin PC, Ganzhorn S, Spoljaric D, Albers AC, Merkelson A, Stewart DR, Stevenson DA, Viskochil D, Druley TE, Forys JT, Reilly KM, Fisher MJ, Tabori U, Allen JC, Schiffman JD, Gutmann DH, Rubin J (2015). The cyclic AMP pathway is a sex-specific modifier of glioma risk in type I neurofibromatosis patients. Cancer research, 75(1), 16-21. (Read full publication)
    71. Kazi ZB, Prater SN, Kobori JA, Viskochil D, Bailey C, Gera R, Stockton DW, McIntosh P, Rosenberg AS, Kishnani P (2016). Durable and sustained immune tolerance to ERT in Pompe disease with entrenched immune responses. JCI insight, 1(11), (Read full publication)
    72. Payne JM, Barton B, Ullrich NJ, Cantor A, Hearps SJ, Cutter G, Rosser T, Walsh KS, Gioia GA, Wolters PL, Tonsgard J, Schorry E, Viskochil D, Klesse L, Fisher M, Gutmann DH, Silva AJ, Hunter SJ, Rey-Casserly C, Cantor NL, Byars AW, Stavinoha PL, Ackerson JD, Armstrong CL, Isenberg J, O'Neil SH, Packer RJ, Korf B, Acosta MT, North KN, NF Clinical Trials Consortiu (2016). Randomized placebo-controlled study of lovastatin in children with neurofibromatosis type 1. Neurology, 87(24), 2575-2584. (Read full publication)
    73. Balasubramanian M, Lord H, Levesque S, Guturu H, Thuriot F, Sillon G, Wenger AM, Sureka DL, Lester T, Johnson DS, Bowen J, Calhoun AR, Viskochil DH, DDD Study, Bejerano G, Bernstein JA, Chitayat (2017). Chitayat syndrome: hyperphalangism, characteristic facies, hallux valgus and bronchomalacia results from a recurrent c.266A>G p.(Tyr89Cys) variant in the ERF gene. Journal of medical genetics, 54(3), 157-165. (Read full publication)
    74. Bilder DA, Bakian AV, Stevenson DA, Carbone PS, Cunniff C, Goodman AB, McMahon WM, Fisher NP, Viskochil (2016). Brief Report: The Prevalence of Neurofibromatosis Type 1 among Children with Autism Spectrum Disorder Identified by the Autism and Developmental Disabilities Monitoring Network. Journal of autism and developmental disorders, 46(10), 3369-76. (Read full publication)
    75. McCandless SE, Yanovski JA, Miller J, Fu C, Bird LM, Salehi P, Chan CL, Stafford D, Abuzzahab MJ, Viskochil D, Barlow SE, Angulo M, Myers SE, Whitman BY, Styne D, Roof E, Dykens EM, Scheimann AO, Malloy J, Zhuang D, Taylor K, Hughes TE, Kim DD, Butler M (2017). Effects of MetAP2 inhibition on hyperphagia and body weight in Prader-Willi syndrome: A randomized, double-blind, placebo-controlled trial. Diabetes, obesity & metabolism, 19(12), 1751-1761. (Read full publication)
    76. Stevenson DA, Hanson H, Stevens A, Carey J, Viskochil D, Sheng X, Wheeler K, Slater (2018). Quantitative Ultrasound and Tibial Dysplasia in Neurofibromatosis Type 1. Journal of clinical densitometry, 21(2), 179-184. (Read full publication)
    77. Margraf RL, VanSant-Webb C, Sant D, Carey J, Hanson H, D'Astous J, Viskochil D, Stevenson DA, Mao (2017). Utilization of Whole-Exome Next-Generation Sequencing Variant Read Frequency for Detection of Lesion-Specific, Somatic Loss of Heterozygosity in a Neurofibromatosis Type 1 Cohort with Tibial Pseudarthrosis. The Journal of molecular diagnostics, 19(3), 468-474. (Read full publication)
    78. Vaidyanathan K, Niranjan T, Selvan N, Teo CF, May M, Patel S, Weatherly B, Skinner C, Opitz J, Carey J, Viskochil D, Gecz J, Shaw M, Peng Y, Alexov E, Wang T, Schwartz C, Wells (2017). Identification and characterization of a missense mutation in the O-linked ß-N-acetylglucosamine (O-GlcNAc) transferase gene that segregates with X-linked intellectual disability. The Journal of biological chemistry, 292(21), 8948-8963. (Read full publication)
    79. Higham CS, Steinberg SM, Dombi E, Perry A, Helman LJ, Schuetze SM, Ludwig JA, Staddon A, Milhem MM, Rushing D, Jones RL, Livingston M, Goldman S, Moertel C, Wagner L, Janhofer D, Annunziata CM, Reinke D, Long L, Viskochil D, Baker L, Widemann B (2017). SARC006: Phase II Trial of Chemotherapy in Sporadic and Neurofibromatosis Type 1 Associated Chemotherapy-Naive Malignant Peripheral Nerve Sheath Tumors. Sarcoma, 2017, 8685638. (Read full publication)
    80. Viskochil (2018). Neurocutaneous disorders. American journal of medical genetics. Part C, Seminars in medical genetics, 178(3), 278-280. (Read full publication)
    81. Clarke LA, Giugliani R, Guffon N, Jones SA, Keenan HA, Munoz-Rojas MV, Okuyama T, Viskochil D, Whitley CB, Wijburg FA, Muenzer (2019). Genotype-phenotype relationships in mucopolysaccharidosis type I (MPS I): Insights from the International MPS I Registry. Clinical genetics, 96(4), 281-289. (Read full publication)
    82. Viskochil D, Clarke LA, Bay L, Keenan H, Muenzer J, Guffon (2019). Growth patterns for untreated individuals with MPS I: Report from the international MPS I registry. American journal of medical genetics. Part A, 179(12), 2425-2432. (Read full publication)
    83. Rios JJ, Richards BS, Stevenson DA, Oberlander B, Viskochil D, Gross AM, Dombi E, Widemann BC, Plotkin SR, May CJ, Ullrich NJ, Goldstein RY, Jain V, Schorry EK, NFCTC Consortiu (2021). Are Some Randomized Clinical Trials Impossible?. Journal of pediatric orthopedics, 41(1), e90-e93. (Read full publication)
    84. Zarate YA, Uehara T, Abe K, Oginuma M, Harako S, Ishitani S, Lehesjoki AE, Bierhals T, Kloth K, Ehmke N, Horn D, Holtgrewe M, Anderson K, Viskochil D, Edgar-Zarate CL, Sacoto MJG, Schnur RE, Morrow MM, Sanchez-Valle A, Pappas J, Rabin R, Muona M, Anttonen AK, Platzer K, Luppe J, Gburek-Augustat J, Kaname T, Okamoto N, Mizuno S, Kaido Y, Ohkuma Y, Hirose Y, Ishitani T, Kosaki (2021). CDK19-related disorder results from both loss-of-function and gain-of-function de novo missense variants. Genetics in medicine, 23(6), 1050-1057. (Read full publication)
    85. Legius E, Messiaen L, Wolkenstein P, Pancza P, Avery RA, Berman Y, Blakeley J, Babovic-Vuksanovic D, Cunha KS, Ferner R, Fisher MJ, Friedman JM, Gutmann DH, Kehrer-Sawatzki H, Korf BR, Mautner VF, Peltonen S, Rauen KA, Riccardi V, Schorry E, Stemmer-Rachamimov A, Stevenson DA, Tadini G, Ullrich NJ, Viskochil D, Wimmer K, Yohay K, International Consensus Group on Neurofibromatosis Diagnostic Criteria (I-NF-DC), Huson SM, Evans DG, Plotkin S (2021). Revised diagnostic criteria for neurofibromatosis type 1 and Legius syndrome: an international consensus recommendation. Genetics in medicine, 23(8), 1506-1513. (Read full publication)
    86. Di Sera T, Velinder M, Ward A, Qiao Y, Georges S, Miller C, Pitman A, Richards W, Ekawade A, Viskochil D, Carey JC, Pace L, Bale J, Clardy SL, Andrews A, Botto L, Marth (2021). Gene.iobio: an interactive web tool for versatile, clinically-driven variant interrogation and prioritization. Scientific reports, 11(1), 20307. (Read full publication)
    87. Plotkin SR, Messiaen L, Legius E, Pancza P, Avery RA, Blakeley JO, Babovic-Vuksanovic D, Ferner R, Fisher MJ, Friedman JM, Giovannini M, Gutmann DH, Hanemann CO, Kalamarides M, Kehrer-Sawatzki H, Korf BR, Mautner VF, MacCollin M, Papi L, Rauen KA, Riccardi V, Schorry E, Smith MJ, Stemmer-Rachamimov A, Stevenson DA, Ullrich NJ, Viskochil D, Wimmer K, Yohay K, International Consensus Group on Neurofibromatosis Diagnostic Criteria (I-NF-DC), Huson SM, Wolkenstein P, Evans D (2022). Updated diagnostic criteria and nomenclature for neurofibromatosis type 2 and schwannomatosis: An international consensus recommendation. Genetics in medicine, 24(9), 1967-1977. (Read full publication)
    88. Lau HA, Viskochil D, Tanpaiboon P, Lopez AG, Martins E, Taylor J, Malkus B, Zhang L, Jurecka A, Marsden (2022). Long-term efficacy and safety of vestronidase alfa enzyme replacement therapy in pediatric subjects < 5 years with mucopolysaccharidosis VII. Molecular genetics and metabolism, 136(1), 28-37. (Read full publication)
    89. Polgreen LE, Bay L, Clarke LA, Guffon N, Jones SA, Muenzer J, Flores AL, Wilson K, Viskochil (2022). Growth in individuals with attenuated mucopolysaccharidosis type I during untreated and treated periods: Data from the MPS I registry. American journal of medical genetics. Part A, 188(10), 2941-2951. (Read full publication)
    90. Cortes-Ciriano I, Steele CD, Piculell K, Al-Ibraheemi A, Eulo V, Bui MM, Chatzipli A, Dickson BC, Borcherding DC, Feber A, Galor A, Hart J, Jones KB, Jordan JT, Kim RH, Lindsay D, Miller C, Nishida Y, Proszek PZ, Serrano J, Sundby RT, Szymanski JJ, Ullrich NJ, Viskochil D, Wang X, Snuderl M, Park PJ, Flanagan AM, Hirbe AC, Pillay N, Miller DT, Genomics of MPNST (GeM) Consortiu (2023). Genomic Patterns of Malignant Peripheral Nerve Sheath Tumor (MPNST) Evolution Correlate with Clinical Outcome and Are Detectable in Cell-Free DNA. Cancer discovery, 13(3), 654-671. (Read full publication)
    91. Viskochil D, Wysocki M, Learoyd M, Sun P, So K, Evans A, Lai F, Hernàndez H (2024). Effect of food on selumetinib pharmacokinetics and gastrointestinal tolerability in adolescents with neurofibromatosis type 1-related plexiform neurofibromas. Neuro-oncology advances, 6(1), vdae036. (Read full publication)
    92. Ahmad N, Fazeli W, Schließke S, Lesca G, Gokce-Samar Z, Mekbib KY, Jin SC, Burton J, Hoganson G, Petersen A, Gracie S, Granger L, Bartels E, Oppermann H, Kundishora A, Till M, Milleret-Pignot C, Dangerfield S, Viskochil D, Anderson KJ, Palculict TB, Schnur RE, Wentzensen IM, Tiller GE, Kahle KT, Kunz WS, Burkart S, Simons M, Sticht H, Abou Jamra R, Neuser (2023). De Novo Variants in RAB11B Cause Various Degrees of Global Developmental Delay and Intellectual Disability in Children. Pediatric neurology, 148, 164-171. (Read full publication)
    93. Peron A, D'Arco F, Aldinger KA, Smith-Hicks C, Zweier C, Gradek GA, Bradbury K, Accogli A, Andersen EF, Au PYB, Battini R, Beleford D, Bird LM, Bouman A, Bruel AL, Busk ØL, Campeau PM, Capra V, Carlston C, Carmichael J, Chassevent A, Clayton-Smith J, Bamshad MJ, Earl DL, Faivre L, Philippe C, Ferreira P, Graul-Neumann L, Green MJ, Haffner D, Haldipur P, Hanna S, Houge G, Jones WD, Kraus C, Kristiansen BE, Lespinasse J, Low KJ, Lynch SA, Maia S, Mao R, Kalinauskiene R, Melver C, McDonald K, Montgomery T, Morleo M, Motter C, Openshaw AS, Palumbos JC, Parikh AS, Perilla-Young Y, Powell CM, Person R, Desai M, Piard J, Pfundt R, Scala M, Serey-Gaut M, Shears D, Slavotinek A, Suri M, Turner C, Tvrdik T, Weiss K, Wentzensen IM, Zollino M, Hsieh TC, C4RCD Research Group, Telethon Undiagnosed Disease Program (TUDP), University of Washington Center for Mendelian Genomics (UW-CMG), de Vries BBA, Guillemot F, Dobyns WB, Viskochil D, Dias (2025). BCL11A intellectual developmental disorder: defining the clinical spectrum and genotype-phenotype correlations. European journal of human genetics, 33(3), 312-324. (Read full publication)
    94. Liew MA, Coffin CM, Fletcher JA, Hang MT, Tanito K, Niimura M, Viskochil (2002). Peripheral nerve sheath tumors from patients with neurofibromatosis type 1 do not have the chromosomal translocation t(X;18). Pediatric and developmental pathology, 5(2), 165-9. (Read full publication)
    95. Coffin CM, Cassity J, Viskochil D, Lor Randall R, Albritton (2004). Non-neurogenic sarcomas in four children and young adults with neurofibromatosis type 1. American journal of medical genetics. Part A, 127A(1), 40-43. (Read full publication)
    96. Muram-Zborovski TM, Stevenson DA, Viskochil DH, Dries DC, Wilson AR, Rong Ma (2010). SPRED 1 mutations in a neurofibromatosis clinic. Journal of child neurology, 25(10), 1203-9. (Read full publication)
    97. Thompson HL, Viskochil DH, Stevenson DA, Chapman K (2010). Speech-language characteristics of children with neurofibromatosis type 1. American journal of medical genetics. Part A, 152A(2), 284-90. (Read full publication)
    98. Muram-Zborovski TM, Vaughn CP, Viskochil DH, Hanson H, Mao R, Stevenson D (2010). NF1 exon 22 analysis of individuals with the clinical diagnosis of neurofibromatosis type 1. American journal of medical genetics. Part A, 152A(8), 1973-8. (Read full publication)
    99. Stevenson DA, Schwarz EL, Carey JC, Viskochil DH, Hanson H, Bauer S, Weng HY, Greene T, Reinker K, Swensen J, Chan RJ, Yang FC, Senbanjo L, Yang Z, Mao R, Pasquali (2011). Bone resorption in syndromes of the Ras/MAPK pathway. Clinical genetics, 80(6), 566-73. (Read full publication)
    100. Stevenson DA, Carey JC, Viskochil DH, Moyer-Mileur LJ, Slater H, Murray MA, D'Astous JL, Murray K (2009). Analysis of radiographic characteristics of anterolateral bowing of the leg before fracture in neurofibromatosis type 1. Journal of pediatric orthopedics, 29(4), 385-92. (Read full publication)
    101. Stevenson DA, Viskochil DH, Carey JC, Sheng X, Murray M, Moyer-Mileur L, Shelton J, Roberts WL, Bunker AM, Hanson H, Bauer S, D'Astous J (2011). Pediatric 25-hydroxyvitamin D concentrations in neurofibromatosis type 1. Journal of pediatric endocrinology & metabolism, 24(3-4), 169-74. (Read full publication)
    102. Furtado LV, Putnam AR, Viskochil DH, Lowichik A, Erickson LK, Dries DC, Opitz J (2011). Unilateral sclerocornea and tracheal stenosis: unusual findings in a patient with Goldenhar anomaly. Fetal and pediatric pathology, 30(6), 397-404. (Read full publication)
    103. Muram TM, Stevenson DA, Watts-Justice S, Viskochil DH, Carey JC, Mao R, Jackson (2013). A cost savings approach to SPRED1 mutational analysis in individuals at risk for neurofibromatosis type 1. American journal of medical genetics. Part A, 161A(3), 467-72. (Read full publication)
    104. Stevenson DA, Zhou H, Ashrafi S, Messiaen LM, Carey JC, D'Astous JL, Santora SD, Viskochil D (2006). Double inactivation of NF1 in tibial pseudarthrosis. American journal of human genetics, 79(1), 143-8. (Read full publication)
    105. Stevenson DA, Moyer-Mileur LJ, Murray M, Slater H, Sheng X, Carey JC, Dube B, Viskochil D (2007). Bone mineral density in children and adolescents with neurofibromatosis type 1. The Journal of pediatrics, 150(1), 83-8. (Read full publication)
    106. Rieley MB, Stevenson DA, Viskochil DH, Tinkle BT, Martin LJ, Schorry E (2011). Variable expression of neurofibromatosis 1 in monozygotic twins. American journal of medical genetics. Part A, 155A(3), 478-85. (Read full publication)
    107. Rauen KA, Banerjee A, Bishop WR, Lauchle JO, McCormick F, McMahon M, Melese T, Munster PN, Nadaf S, Packer RJ, Sebolt-Leopold J, Viskochil D (2011). Costello and cardio-facio-cutaneous syndromes: Moving toward clinical trials in RASopathies. American journal of medical genetics. Part C, Seminars in medical genetics, 157C(2), 136-46. (Read full publication)
    108. Johnson KJ, Fisher MJ, Listernick RL, North KN, Schorry EK, Viskochil D, Weinstein M, Rubin JB, Gutmann D (2012). Parent-of-origin in individuals with familial neurofibromatosis type 1 and optic pathway gliomas. Familial cancer, 11(4), 653-6. (Read full publication)
    109. Stevenson DA, Allen S, Tidyman WE, Carey JC, Viskochil DH, Stevens A, Hanson H, Sheng X, Thompson BA, Okumura MJ, Reinker K, Johnson B, Rauen K (2012). Peripheral muscle weakness in RASopathies. Muscle & nerve, 46(3), 394-9. (Read full publication)
    110. Johnson BA, Macwilliams B, Carey JC, Viskochil DH, D'Astous JL, Stevenson D (2012). Lower extremity strength and hopping and jumping ground reaction forces in children with neurofibromatosis type 1. Human movement science, 31(1), 247-54. (Read full publication)
    111. Banugaria SG, Prater SN, McGann JK, Feldman JD, Tannenbaum JA, Bailey C, Gera R, Conway RL, Viskochil D, Kobori JA, Rosenberg AS, Kishnani P (2013). Bortezomib in the rapid reduction of high sustained antibody titers in disorders treated with therapeutic protein: lessons learned from Pompe disease. Genetics in medicine, 15(2), 123-31. (Read full publication)
    112. George-Abraham JK, Martin LJ, Kalkwarf HJ, Rieley MB, Stevenson DA, Viskochil DH, Hopkin RJ, Stevens AM, Hanson H, Schorry E (2013). Fractures in children with neurofibromatosis type 1 from two NF clinics. American journal of medical genetics. Part A, 161A(5), 921-6. (Read full publication)
    113. Shen W, Flores-Daboub J, Viskochil D, Dugan SL, Best HD, Mao (2020). Detecting mosaic variants in patients with somatic overgrowth syndromes using cell-free circulating DNA and deep sequencing. Journal of medical genetics, 57(11), 794-796. (Read full publication)
    114. Di Sera T, Velinder M, Ward A, Qiao Y, Georges S, Miller C, Pitman A, Richards W, Ekawade A, Viskochil D, Carey JC, Pace L, Bale J, Clardy SL, Andrews A, Botto L, Marth (2020). gene.iobio: an interactive web tool for versatile, clinically-driven variant interrogation and prioritization. (Read full publication)
    115. Payne JM, Haebich KM, MacKenzie R, Walsh KS, Hearps SJC, Coghill D, Barton B, Pride NA, Ullrich NJ, Tonsgard JH, Viskochil D, Schorry EK, Klesse L, Fisher MJ, Gutmann DH, Rosser T, Packer RJ, Korf B, Acosta MT, Bellgrove MA, North K (2021). Cognition, ADHD Symptoms, and Functional Impairment in Children and Adolescents With Neurofibromatosis Type 1. Journal of attention disorders, 25(8), 1177-1186. (Read full publication)
    116. Viskochil D, Muenzer J, Guffon N, Garin C, Munoz-Rojas MV, Moy KA, Hutchinson D (2017). Carpal tunnel syndrome in mucopolysaccharidosis I: a registry-based cohort study. Developmental medicine and child neurology, 59(12), 1269-1275. (Read full publication)
    117. Lucas CG, Gross AM, Romo CG, Dehner CA, Lazar AJ, Miettinen M, Pekmezci M, Quezado M, Rodriguez FJ, Stemmer-Rachamimov A, Viskochil D, Perry A, Symposium on Atypical Neurofibroma: State of the Science Member (2025). Consensus recommendations for an integrated diagnostic approach to peripheral nerve sheath tumors arising in the setting of Neurofibromatosis Type 1. Neuro-oncology, 27(3), 616-624. (Read full publication)
    118. Moertel CL, Hirbe AC, Shuhaiber HH, Bielamowicz K, Sidhu A, Viskochil D, Weber MD, Lokku A, Smith LM, Foreman NK, Hajjar FM, McNall-Knapp RY, Weintraub L, Antony R, Franson AT, Meade J, Schiff D, Walbert T, Ambady P, Bota DA, Campen CJ, Kaur G, Klesse LJ, Maraka S, Moots PL, Nevel K, Bornhorst M, Aguilar-Bonilla A, Chagnon S, Dalvi N, Gupta P, Khatib Z, Metrock LK, Nghiemphu PL, Roberts RD, Robison NJ, Sadighi Z, Stapleton S, Babovic-Vuksanovic D, Gershon TR, ReNeu Trial Investigators, ReNeu Study Investigator (2025). ReNeu: A Pivotal, Phase IIb Trial of Mirdametinib in Adults and Children With Symptomatic Neurofibromatosis Type 1-Associated Plexiform Neurofibroma. Journal of clinical oncology, 43(6), 716-729. (Read full publication)
    119. Barton B, Wolters PL, Walsh KS, Ullrich NJ, Rosser T, Tonsgard J, Viskochil D, Schorry E, Klesse LJ, Fisher MJ, Gutmann DH, Packer RJ, Korf B, Acosta MT, North KN, Payne JM, NF Clinical Trials Consortiu (2025). Psychosocial functioning and determinants of the health-related quality of life in children with neurofibromatosis type 1 and cognitive impairments. Journal of neuro-oncology, 174(1), 65-76. (Read full publication)
    120. Battiola T, Viskochil D, Wolken K, Couldwell (2025). Glucocorticoid Resistance Syndrome in 2 Patients With Diverse Genotype. JCEM case reports, 3(2), luae243. (Read full publication)
    121. Taliercio V, Zhao J, Boyden SE, Mao R, Bayrak-Toydemir P, Pflaum A, Palumbos J, Andrews A, Baldwin EE, Welt C, Fait M, Undiagnosed Diseases Network, Botto LD, Viskochil (2025). Worth the Effort: Lessons for Discovery and Care From an Unusual Case of Gorlin Syndrome. American journal of medical genetics. Part A, 197(9), e64108. (Read full publication)

    Review

    1. Florell SR, Townsend JJ, Klatt EC, Pysher TJ, Coffin CM, Wittwer CT, Viskochil D (1996). Aprosencephaly and cerebellar dysgenesis in sibs. American journal of medical genetics, 63(4), 542-8. (Read full publication)
    2. Flejter WL, Finlinson D, Root S, Nguyen W, Brothman AR, Viskochil (1996). Familial ring (19) chromosome mosaicism: case report and review. American journal of medical genetics, 66(3), 276-80. (Read full publication)
    3. Carey JC, Viskochil D (1999). Neurofibromatosis type 1: A model condition for the study of the molecular basis of variable expressivity in human disorders. American journal of medical genetics, 89(1), 7-13. (Read full publication)
    4. Carey JC, Viskochil D (2002). Status of the human malformation map: 2002. American journal of medical genetics, 115(4), 205-20. (Read full publication)
    5. Viskochil D, White R, Cawthon (1993). The neurofibromatosis type 1 gene. Annual review of neuroscience, 16, 183-205. (Read full publication)
    6. MacCollin M, Braverman N, Viskochil D, Ruttledge M, Davis K, Ojemann R, Gusella J, Parry D (1996). A point mutation associated with a severe phenotype of neurofibromatosis 2. Annals of neurology, 40(3), 440-5. (Read full publication)
    7. Carey JC, Viskochil D (1996). Current status of the human malformation map. Birth defects original article series, 30(1), 13-34. (Read full publication)
    8. White R, Viskochil D, O'Connell (1991). Identification and characterization of the gene for neurofibromatosis type 1. Current opinion in neurobiology, 1(3), 462-7. (Read full publication)
    9. Viskochil D (2003). It takes two to tango: mast cell and Schwann cell interactions in neurofibromas. The Journal of clinical investigation, 112(12), 1791-3. (Read full publication)
    10. Gottfried ON, Viskochil DH, Fults DW, Couldwell W (2006). Molecular, genetic, and cellular pathogenesis of neurofibromas and surgical implications. Neurosurgery, 58(1), 1-16; discussion 1-16. (Read full publication)
    11. Kim A, Stewart DR, Reilly KM, Viskochil D, Miettinen MM, Widemann B (2017). Malignant Peripheral Nerve Sheath Tumors State of the Science: Leveraging Clinical and Biological Insights into Effective Therapies. Sarcoma, 2017, 7429697. (Read full publication)
    12. Miettinen MM, Antonescu CR, Fletcher CDM, Kim A, Lazar AJ, Quezado MM, Reilly KM, Stemmer-Rachamimov A, Stewart DR, Viskochil D, Widemann B, Perry (2017). Histopathologic evaluation of atypical neurofibromatous tumors and their transformation into malignant peripheral nerve sheath tumor in patients with neurofibromatosis 1-a consensus overview. Human pathology, 67, 1-10. (Read full publication)
    13. Miller DT, Freedenberg D, Schorry E, Ullrich NJ, Viskochil D, Korf BR, COUNCIL ON GENETICS, AMERICAN COLLEGE OF MEDICAL GENETICS AND GENOMIC (2019). Health Supervision for Children With Neurofibromatosis Type 1. Pediatrics, 143(5), (Read full publication)
    14. Dobyns WB, Berry-Kravis E, Havernick NJ, Holden KR, Viskochil (1999). X-linked lissencephaly with absent corpus callosum and ambiguous genitalia. American journal of medical genetics, 86(4), 331-7. (Read full publication)
    15. Bohring A, Lewin SO, Reynolds JF, Voigtländer T, Rittinger O, Carey JC, Köpernik M, Smith R, Zackai EH, Leonard NJ, Gritter HL, Bamforth JS, Okun N, McLeod DR, Super M, Powell P, Mundlos S, Hennekam RC, van Langen IM, Viskochil DH, Wiedemann HR, Opitz J (1999). Polytopic anomalies with agenesis of the lower vertebral column. American journal of medical genetics, 87(2), 99-114. (Read full publication)
    16. Packer RJ, Gutmann DH, Rubenstein A, Viskochil D, Zimmerman RA, Vezina G, Small J, Korf (2002). Plexiform neurofibromas in NF1: toward biologic-based therapy. Neurology, 58(10), 1461-70. (Read full publication)
    17. Elefteriou F, Kolanczyk M, Schindeler A, Viskochil DH, Hock JM, Schorry EK, Crawford AH, Friedman JM, Little D, Peltonen J, Carey JC, Feldman D, Yu X, Armstrong L, Birch P, Kendler DL, Mundlos S, Yang FC, Agiostratidou G, Hunter-Schaedle K, Stevenson D (2009). Skeletal abnormalities in neurofibromatosis type 1: approaches to therapeutic options. American journal of medical genetics. Part A, 149A(10), 2327-38. (Read full publication)
    18. Morales E, Viskochil D, Hofmann J, Hagedorn C, Linscott L, Cheshier S, Bruggers C (2021). Multiple Intraspinal Gangliogliomas in a Child With Neurofibromatosis Type 1: Case Report and Literature Review. Journal of pediatric hematology/oncology, 43(7), e979-e982. (Read full publication)
    19. Klesse LJ, Jordan JT, Radtke HB, Rosser T, Schorry E, Ullrich N, Viskochil D, Knight P, Plotkin SR, Yohay (2020). The Use of MEK Inhibitors in Neurofibromatosis Type 1-Associated Tumors and Management of Toxicities. The oncologist, 25(7), e1109-e1116. (Read full publication)
    20. Adam MP, Feldman J, Mirzaa GM, Pagon RA, Wallace SE, Amemiya A, Peron A, Bradbury K, Viskochil DH, Dias (2019). BCL11A-Related Intellectual Disability. (Read full publication)
    21. Klesse LJ, Jordan JT, Radtke HB, Rosser T, Schorry E, Ullrich N, Viskochil D, Knight P, Plotkin SR, Yohay (2020). The Use of MEK Inhibitors in Neurofibromatosis Type 1-Associated Tumors and Management of Toxicities. The oncologist, 25(7), e1109-e1116. (Read full publication)
    22. Morales E, Viskochil D, Hofmann J, Hagedorn C, Linscott L, Cheshier S, Bruggers C (2021). Multiple Intraspinal Gangliogliomas in a Child With Neurofibromatosis Type 1: Case Report and Literature Review. Journal of pediatric hematology/oncology, 43(7), e979-e982. (Read full publication)

    Book Chapter

    1. Viskochil D, Carey (1994). Variant Forms of the Neurofibromatosis. Neurofibromatosis,
    2. Viskochil D, Carey J, Carey (1997). The Phakomatoses. Pediatric neurosurgery,
    3. O'Connell P, Cawthon R, Viskochil (1991). Molecular Genetics of Neurofibromatosis Type 1.
    4. Viskochil (1998). Genetic Studies on Phacomatosis.
    5. Viskochil (2000). Neurofibromatosis Type 1.
    6. Viskochil (2003). Neurocutaneous Disorders. 769-774.
    7. Viskochil (1998). Molecular Biology and Pathogenesis.
    8. Viskochil (1998). Gene Structure and Expression.
    9. Carey J, Viskochil (1996). Current Status of the Human Malformation Map. 30, 13-34.
    10. Viskochil (1995). Identification and Characterization of the Neurofibromatosis Type 1 Gene.
    11. Viskochil (2021). Neurofibromatosis Type 1.
    12. Taliercio V, Viskochil (2024). Precision Medicine in RASopathies: Tailored Disease Management Through Enhanced Approaches, Disease Delineation, and Pathway-Specific Therapies.

    Case Report

    1. Stevenson DA, Viskochil DH, Rope AF, Carey J (2006). Clinical and molecular aspects of an informative family with neurofibromatosis type 1 and Noonan phenotype. Clinical genetics, 69(3), 246-53. (Read full publication)
    2. Arrington CB, Nightengale D, Lowichik A, Rosenthal ET, Christian-Ritter K, Viskochil D (2006). Pathologic and molecular analysis in a family with rare mixed supravalvar aortic and pulmonic stenosis. Pediatric and developmental pathology, 9(4), 297-306. (Read full publication)
    3. Gunn SR, Mohammed M, Reveles XT, Viskochil DH, Palumbos JC, Johnson-Pais TL, Hale DE, Lancaster JL, Hardies LJ, Boespflug-Tanguy O, Cody JD, Leach R (2003). Molecular characterization of a patient with central nervous system dysmyelination and cryptic unbalanced translocation between chromosomes 4q and 18q. American journal of medical genetics. Part A, 120(1), 127-35. (Read full publication)
    4. Gripp KW, Kawame H, Viskochil DH, Nicholson (2004). Elevated catecholamine metabolites in patients with Costello syndrome. American journal of medical genetics. Part A, 128(1), 48-51. (Read full publication)
    5. Arrington CB, Cowley BC, Nightingale DR, Zhou H, Brothman AR, Viskochil D (2005). Interstitial deletion 8q11.2-q13 with congenital anomalies of CHARGE association. American journal of medical genetics. Part A, 133(3), 326-30. (Read full publication)
    6. Conway RL, Pressman BD, Dobyns WB, Danielpour M, Lee J, Sanchez-Lara PA, Butler MG, Zackai E, Campbell L, Saitta SC, Clericuzio CL, Milunsky JM, Hoyme HE, Shieh J, Moeschler JB, Crandall B, Lauzon JL, Viskochil DH, Harding B, Graham JM J (2007). Neuroimaging findings in macrocephaly-capillary malformation: a longitudinal study of 17 patients. American journal of medical genetics. Part A, 143A(24), 2981-3008. (Read full publication)
    7. Moog U, Jones MC, Viskochil DH, Verloes A, Van Allen MI, Dobyns W (2007). Brain anomalies in encephalocraniocutaneous lipomatosis. American journal of medical genetics. Part A, 143A(24), 2963-72. (Read full publication)

    Editorial

    1. Viskochil (1999). In search of the Holy Grail: NF1 mutation analysis and genotype-phenotype correlation. Genetics in medicine, 1(6), 245-7. (Read full publication)
    2. Stevenson D, Viskochil (2009). Pigmentary findings in neurofibromatosis type 1-like syndrome (Legius syndrome): potential diagnostic dilemmas. JAMA, 302(19), 2150-1. (Read full publication)
    3. Williams HE, Aiyar L, Dinulos MB, Flannery D, McClure ML, Lloyd-Puryear MA, Sanghavi K, Trotter TL, Viskochil D, ACMG Advocacy and Government Affairs Committee. Electronic address: documents@acmg.ne (2022). Considerations for policymakers for improving health care through telegenetics: A points to consider statement of the American College of Medical Genetics and Genomics (ACMG). Genetics in medicine, 24(11), 2211-2219. (Read full publication)
    4. Bruggers CS, Linscott L, Lee JC, Perry A, Klonoski J, Viskochil D, Cheshier S, Afify (2023). Molecular characterization of metachronous atypical teratoid rhabdoid tumors occurring in a young man 15 years apart. Pediatric blood & cancer, 70(1), e29836. (Read full publication)
    5. Viskochil D, Linscott L (2018). Volumetric MRI in Neurofibromatosis Type 1 (NF1) Comes of Age to Help Determine Initiation and Monitoring of Targeted Therapies for Plexiform Neurofibromas. Academic radiology, 25(2), 141-143. (Read full publication)

    Letter

    1. Stevenson DA, Murray M, Viskochil DH, Carey JC, Moyer-Mileur L (2008). Bone mineral density in children with neurofibromatosis type 1. Journal of pediatric orthopedics, 28(7), 791; author reply 791-2. (Read full publication)
    2. Hulinsky R, Byrne JL, Lowichik A, Viskochil D (2005). Fetus with interstitial del(5)(p13.1p14.2) diagnosed postnatally with Cornelia de Lange syndrome. American journal of medical genetics. Part A, 137(3), 336-8. (Read full publication)
    3. Carter Febres M, Viskochil D, Rampton J, Afify (2021). Further Lessons Learned From a Child With NF1 and Classical Hodgkin Lymphoma. Journal of pediatric hematology/oncology, 43(5), e743-e744. (Read full publication)

    Abstract

    1. Jorde L, Watkins S, Stevens J, Viskochil D, O'Connell (1992). Linkage Disequilibrium in the Neurofibromatosis 1 Region. American journal of human genetics, 51, A137.
    2. Viskochil D, Breidenbach HH, Cawthon R, Zhu HL, Brothman (1994). Mapping Neurofibromatosis 1 Homologous Loci by Fluorescence In Situ Hybridization. American journal of human genetics, 55, 2201.
    3. Viskochil D, bollag G, Clark R, Li Y, McCormick F, White (1992). Analysis of the NF1 Gene Encompasses an Alternative Splice Form in the GAP-related Domain. American journal of human genetics, 51, A137.
    4. Viskochil D, Purandare S, Breidenbach HH, Cawthorn R, Sawada S, Watkins S, Jorde (1995). Genotyping of 3 Exon-Based Polymorphisms and Linkage Disequilibrium Analysis at the NF1 Locus. American journal of human genetics, 57, 1175.
    5. Purandare S, Breidenbach GH, Li Y, Zhu XL, Sawada S, Neil S, Brothman A, White R, Cawthon R, Viskochil (1995). Characterization of Neurofibromatosis 1 -homologous loci. American journal of human genetics, 57, 1828.
    6. Leppig KA, Viskochil D, Kaplan P, Stephens K (1994). Is NF-1 Gene Deletion the Molecular Mechanism of Neurofibromatosis Type 1 with Distinctive Facies?. American journal of human genetics, 55, 1334.
    7. Viskochil D, Cawthorn R, Carey J, White (1991). Mutation Analysis of the NF1 Gene in Segmental Neurofibromatosis.
    8. Viskochil D, Ward R, Carey (1993). Radial Aplasia as a Manifestation of Valproate Embryofetopathy. 12, 115.
    9. Viskochil D, Carey (1995). Orbitotermporal Plexiform Neurofibroma and Sphenoid Wing Dysplasia: An Unproven Association. 14, 117.
    10. Viskochil D, Cawthon R, O'Connell P, Carey J, White (1990). Cloning and Characterization of Contiguous Genes at the Neurofibromatosis Type 1 Locus. 10, 140.
    11. Carey J, Baty BJ, Byrne J, Craven C, McDonad J, Miller C, Palumbos J, Pysher T, Varner M, Viskochil (1993). Iniencephaly: A Review of the Pathogenetic, Nosologic, Genetic and Prenatal Diagnostic Aspects of an Interesting Developmental Defect. 12, 56.
    12. Viskochil D, Sivak L, Carey (1993). Bilateral Presentation of Encephalocraniocutaneous Lipomatosis. 12, 71.
    13. Carey J, Stevenson D, Neil S, Viskochil (1998). Is there an NF/Noonan Syndrome: Part 2: Documentation of the Clinical and Molecular Aspects of an Important Family. 17, 152-153.
    14. Viskochil D, Neil S, Ballard L, Sawada S, Ota M, Niimura (1998). Mutation Analysis of Neurofibromas in NF1 to Establish the Timing of Somatic Mutation (A Fate Map of Humans?). 17, 151-152.
    15. Viskochil D, Ballard L, Sawada S, Ota M, Neil S, Niimura (1997). Mutational Analysis of Neurofibromas in NF1 to Establish the Timing of Somatic Mutation (A Fate Map in Humans?).
    16. Ota M, Ballard L, Coffin C, Pharham D, Shearer P, Viskochil (1997). Genetic Evaluation of Malignant Peripheral Nerve Sheath Tumors (MPNSTs) from Non-Neurofibromatosis 1 (NF1) Individuals.
    17. Viskochil D, Sawada S, Florell S, Purandare S, Ota M, Stephens (1996). Identification of NF1 Mutations in Both Alleles of a Dermal Neurofibroma.
    18. Purandare SM, Ota A, Neil S, Viskochil (1996). Identification of cis-regulatory Elements in the Neurofibromatosis 1 Gene.
    19. Cvijanovich NZ, Viskochil D, Leonard (1996). Carbohydrate Deficient Glycoprotein Syndrome: A New Variant?. 44, 145A.

    Other

    1. Carapito R, Ivanova EL, Morlon A, Meng L, Molitor A, Erdmann E, Kieffer B, Pichot A, Naegely L, Kolmer A, Paul N, Hanauer A, Tran Mau-Them F, Jean-Marçais N, Hiatt SM, Cooper GM, Tvrdik T, Muir AM, Dimartino C, Chopra M, Amiel J, Gordon CT, Dutreux F, Garde A, Thauvin-Robinet C, Wang X, Leduc MS, Phillips M, Crawford HP, Kukolich MK, Hunt D, Harrison V, Kharbanda M, Deciphering Developmental Disorders Study, University of Washington Center for Mendelian Genomics, Smigiel R, Gold N, Hung CY, Viskochil DH, Dugan SL, Bayrak-Toydemir P, Joly-Helas G, Guerrot AM, Schluth-Bolard C, Rio M, Wentzensen IM, McWalter K, Schnur RE, Lewis AM, Lalani SR, Mensah-Bonsu N, Céraline J, Sun Z, Ploski R, Bacino CA, Mefford HC, Faivre L, Bodamer O, Chelly J, Isidor B, Bahram (2020). ZMIZ1 Variants Cause a Syndromic Neurodevelopmental Disorder. American journal of human genetics, 106(1), 137. (Read full publication)
    2. Carapito R, Ivanova EL, Morlon A, Meng L, Molitor A, Erdmann E, Kieffer B, Pichot A, Naegely L, Kolmer A, Paul N, Hanauer A, Tran Mau-Them F, Jean-Marçais N, Hiatt SM, Cooper GM, Tvrdik T, Muir AM, Dimartino C, Chopra M, Amiel J, Gordon CT, Dutreux F, Garde A, Thauvin-Robinet C, Wang X, Leduc MS, Phillips M, Crawford HP, Kukolich MK, Hunt D, Harrison V, Kharbanda M, Deciphering Developmental Disorders Study, University of Washington Center for Mendelian Genomics, Smigiel R, Gold N, Hung CY, Viskochil DH, Dugan SL, Bayrak-Toydemir P, Joly-Helas G, Guerrot AM, Schluth-Bolard C, Rio M, Wentzensen IM, McWalter K, Schnur RE, Lewis AM, Lalani SR, Mensah-Bonsu N, Céraline J, Sun Z, Ploski R, Bacino CA, Mefford HC, Faivre L, Bodamer O, Chelly J, Isidor B, Bahram (2020). ZMIZ1 Variants Cause a Syndromic Neurodevelopmental Disorder. American journal of human genetics, 106(1), 137. (Read full publication)