Exome analysis of Smith–Magenis-like syndrome cohort identifies de novo likely pathogenic variants von Berger, Seth I., Ciccone, Carla, Simon, Karen L., Malicdan, May Christine, Vilboux, Thierry, Billington, Charles, Fischer, Roxanne, Introne, Wendy J., Gropman, Andrea, Blancato, Jan K., Mullikin, James C., Gahl, William A., Huizing, Marjan, Smith, Ann C. M.

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Variegation of autism related traits across seven neurogenetic disorders von Lee, Nancy Raitano, Niu, Xin, Zhang, Fengqing, Clasen, Liv S., Kozel, Beth A., Smith, Ann C. M., Wallace, Gregory L., Raznahan, Armin

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Molecular analysis of the Retinoic Acid Induced 1 gene (RAI1) in patients with suspected Smith-Magenis syndrome without the 17p11.2 deletion von Vilboux, Thierry, Ciccone, Carla, Blancato, Jan K, Cox, Gerald F, Deshpande, Charu, Introne, Wendy J, Gahl, William A, Smith, Ann C M, Huizing, Marjan

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Adaptive and Maladaptive Behavior in Children with Smith-Magenis Syndrome von Martin, Staci C, Wolters, Pamela L, Smith, Ann C. M

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Auditory Phenotype of Smith-Magenis Syndrome von Brendal, Megan A, King, Kelly A, Zalewski, Christopher K, Finucane, Brenda M, Introne, Wendy, Brewer, Carmen C, Smith, Ann C. M

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Neurologic and Developmental Features of the Smith-Magenis Syndrome (del 17p11.2) von Gropman, Andrea L., Duncan, Wallace C., Smith, Ann C.M.

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Co-Existent Pseudoxanthoma Elasticum and Vitamin K-Dependent Coagulation Factor Deficiency: Compound Heterozygosity for Mutations in the GGCX Gene von Li, Qiaoli, Schurgers, Leon J, Smith, Ann C.M, Tsokos, Maria, Uitto, Jouni, Cowen, Edward W

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Discriminating Power of Localized Three-Dimensional Facial Morphology von Hammond, Peter, Hutton, Tim J., Allanson, Judith E., Buxton, Bernard, Campbell, Linda E., Clayton-Smith, Jill, Donnai, Dian, Karmiloff-Smith, Annette, Metcalfe, Kay, Murphy, Kieran C., Patton, Michael, Pober, Barbara, Prescott, Katrina, Scambler, Pete, Shaw, Adam, Smith, Ann C.M., Stevens, Angela F., Temple, I. Karen, Hennekam, Raoul, Tassabehji, May

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Opposite effects on facial morphology due to gene dosage sensitivity von Hammond, Peter, McKee, Shane, Suttie, Michael, Allanson, Judith, Cobben, Jan-Maarten, Maas, Saskia M., Quarrell, Oliver, Smith, Ann C. M., Lewis, Suzanne, Tassabehji, May, Sisodiya, Sanjay, Mattina, Teresa, Hennekam, Raoul

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Three rare diseases in one Sib pair: RAI1, PCK1, GRIN2B mutations associated with Smith–Magenis Syndrome, cytosolic PEPCK deficiency and NMDA receptor glutamate insensitivity von Adams, David R., Yuan, Hongjie, Holyoak, Todd, Arajs, Katrina H., Hakimi, Parvin, Markello, Thomas C., Wolfe, Lynne A., Vilboux, Thierry, Burton, Barbara K., Fajardo, Karin Fuentes, Grahame, George, Holloman, Conisha, Sincan, Murat, Smith, Ann C.M., Wells, Gordon A., Huang, Yan, Vega, Hugo, Snyder, James P., Golas, Gretchen A., Tifft, Cynthia J., Boerkoel, Cornelius F., Hanson, Richard W., Traynelis, Stephen F., Kerr, Douglas S., Gahl, William A.

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Delayed diagnosis in a house of correction: Smith-Magenis syndrome due to a de novo nonsense RAI1 variant von Yeetong, Patra, Vilboux, Thierry, Ciccone, Carla, Boulier, Kristin, Schnur, Rhonda E., Gahl, William A., Huizing, Marjan, Laje, Gonzalo, Smith, Ann C. M.

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Otologic and audiologic manifestations of hutchinson-gilford progeria syndrome von Guardiani, Elizabeth, Zalewski, Christopher, Brewer, Carmen, Merideth, Melissa, Introne, Wendy, Smith, Ann C. M., Gordon, Leslie, Gahl, William, Kim, H. Jeffrey

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Neurodevelopment of Children Under 3 Years of Age With Smith-Magenis Syndrome von Wolters, Pamela L., PhD, Gropman, Andrea L., MD, Martin, Staci C., PhD, Smith, Michaele R., PT, MEd, Hildenbrand, Hanna L., MS, Brewer, Carmen C., PhD, Smith, Ann C.M., MA, DSc (Hon)

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De Novo KAT5 Variants Cause a Syndrome with Recognizable Facial Dysmorphisms, Cerebellar Atrophy, Sleep Disturbance, and Epilepsy von Humbert, Jonathan, Salian, Smrithi, Makrythanasis, Periklis, Lemire, Gabrielle, Rousseau, Justine, Ehresmann, Sophie, Garcia, Thomas, Alasiri, Rami, Bottani, Armand, Hanquinet, Sylviane, Beaver, Erin, Heeley, Jennifer, Smith, Ann C.M., Berger, Seth I., Antonarakis, Stylianos E., Yang, Xiang-Jiao, Côté, Jacques, Campeau, Philippe M.

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Review of disrupted sleep patterns in Smith-Magenis syndrome and normal melatonin secretion in a patient with an atypical interstitial 17p11.2 deletion von Boudreau, Eilis A., Johnson, Kyle P., Jackman, Angela R., Blancato, Jan, Huizing, Marjan, Bendavid, Claude, Jones, MaryPat, Chandrasekharappa, Settara C., Lewy, Alfred J., Smith, Ann C.M., Magenis, R. Ellen

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New developments in Smith-Magenis syndrome (del 17p11.2) von Gropman, Andrea L, Elsea, Sarah, Duncan, Jr, Wallace C, Smith, Ann C M

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Twenty‐four‐hour motor activity and body temperature patterns suggest altered central circadian timekeeping in Smith–Magenis syndrome, a neurodevelopmental disorder von Smith, Ann C. M., Morse, Rebecca S., Introne, Wendy, Duncan, Wallace C.

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Phenotype and Course of Hutchinson–Gilford Progeria Syndrome von Merideth, Melissa A, Gordon, Leslie B, Clauss, Sarah, Sachdev, Vandana, Smith, Ann C.M, Perry, Monique B, Brewer, Carmen C, Zalewski, Christopher, Kim, H. Jeffrey, Solomon, Beth, Brooks, Brian P, Gerber, Lynn H, Turner, Maria L, Domingo, Demetrio L, Hart, Thomas C, Graf, Jennifer, Reynolds, James C, Gropman, Andrea, Yanovski, Jack A, Gerhard-Herman, Marie, Collins, M.D. Francis S, Nabel, Elizabeth G, Cannon, Richard O, Gahl, William A, Introne, Wendy J

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Craniofacial and dental phenotype of Smith-Magenis syndrome von Tomona, Natalia, Smith, Ann C.M., Guadagnini, Jean Pierre, Hart, Thomas C.

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Diagnostic utility of daytime salivary melatonin levels in Smith-Magenis syndrome von Chik, Constance L., Rollag, Mark D., Duncan, Wallace C., Smith, Ann C.M.

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