Decline in Prevalence of Neural Tube Defects in a High-Risk Region of the United States von Stevenson, Roger E, Allen, William P, Pai, G. Shashidhar, Best, Robert, Seaver, Laurie H, Dean, Jane, Thompson, Shirley

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Developmental delay: Timely identification and assessment von Poon, Jennifer K., Larosa, Angela C., Shashidhar Pai, G.

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[13C]‐galactose breath test in a patient with galactokinase deficiency and spastic diparesis von Ficicioglu, Can, Demirbas, Didem, Derks, Britt, Pai, G. Shashidhar, Timson, David J., Rubio‐Gozalbo, Maria Estela, Berry, Gerard T.

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Variants in TCF20 in neurodevelopmental disability: description of 27 new patients and review of literature von Torti, Erin, Keren, Boris, Palmer, Elizabeth E., Zhu, Zehua, Afenjar, Alexandra, Anderson, Ilse. J., Andrews, Marisa V., Atkinson, Celia, Au, Margaret, Berry, Susan A., Bowling, Kevin M., Boyle, Jackie, Buratti, Julien, Cathey, Sara S., Charles, Perrine, Cogne, Benjamin, Courtin, Thomas, Escobar, Luis F., Finley, Sabra Ledare, Graham, John M., Grange, Dorothy K., Heron, Delphine, Hewson, Stacy, Hiatt, Susan M., Hibbs, Kathleen A., Jayakar, Parul, Kalsner, Louisa, Larcher, Lise, Lesca, Gaetan, Mark, Paul R., Miller, Kathryn, Nava, Caroline, Nizon, Mathilde, Pai, G. Shashidhar, Pappas, John, Parsons, Gretchen, Payne, Katelyn, Putoux, Audrey, Rabin, Rachel, Sabatier, Isabelle, Shinawi, Marwan, Shur, Natasha, Skinner, Steven A., Valence, Stephanie, Warren, Hannah, Whalen, Sandra, Crunk, Amy, Douglas, Ganka, Monaghan, Kristin G., Person, Richard E., Willaert, Rebecca, Solomon, Benjamin D., Juusola, Jane

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Mutations in POMT1 are found in a minority of patients with Walker-Warburg syndrome von Currier, Sophie C., Lee, Christine K., Chang, Bernard S., Bodell, Adria L., Pai, G. Shashidhar, Job, Leela, Lagae, Lieven G., Al-Gazali, Lihadh I., Eyaid, Wafaa M., Enns, Greg, Dobyns, William B., Walsh, Christopher A.

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Cognitive, adaptive, and behavioral characteristics of Williams syndrome von Greer, Margaret K., Brown III, Frank R., Pai, G. Shashidhar, Choudry, Shazia H., Klein, Alan J.

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Reduced penetrance and variable expressivity of familial thoracic aortic aneurysms/dissections von Milewicz, Dianna M., Chen, Hua, Park, Eun-Sook, Petty, Elizabeth M., Zaghi, Hedayatollah, Pai, G.Shashidhar, Willing, Marcia, Patel, Vasant

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High BAALC expression associates with other molecular prognostic markers, poor outcome, and a distinct gene-expression signature in cytogenetically normal patients younger than 60... von Langer, Christian, Radmacher, Michael D., Ruppert, Amy S., Whitman, Susan P., Paschka, Peter, Mrózek, Krzysztof, Baldus, Claudia D., Vukosavljevic, Tamara, Liu, Chang-Gong, Ross, Mary E., Powell, Bayard L., de la Chapelle, Albert, Kolitz, Jonathan E., Larson, Richard A., Marcucci, Guido, Bloomfield, Clara D.

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Mosaic duplication 1(q11q44) in an infant with nephroblastomatosis and mineralization of extraplacental membranes von Christiansen, Lydia R, Lage, Janice M, Wolff, Daynna J, Pai, G Shashidhar, Harley, Russell A

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Characterization of a Recurrent Germ Line Mutation of the E-Cadherin Gene: Implications for Genetic Testing and Clinical Management von SURIANO, Gianpaolo, YEW, Sandie, OLIVEIRA, Maria J, MACGILLIVRAY, Barbara, RAO, Arundhati, SEARS, Dawn, JACKSON, Charles E, BOYD, Jeff, YEE, Cindy, DETERS, Carolyn, PAI, G. Shashidhar, HAMMOND, Lyn S, FERREIRA, Paulo, MCGIVERN, Bobbi J, MEDGYESY, Diane, SARTZ, Denise, ARUN, Banu, OELSCHLAGER, Brant K, UPTON, Mellisa P, NEUFELD-KAISER, Whitney, SILVA, Orlando E, DONENBERG, Talia R, KOOBY, David A, SENZ, Janine, SHARMA, Shobha, JONSSON, Bjorn-Anders, GRONBERG, Henrik, GALLINGER, Steve, SERUCA, Raquel, LYNCH, Henry, HUNTSMAN, David G, KAURAH, Pardeep, FORD, James M, LONGACRE, Teri A, NORTON, Jeffrey A, CHUN, Nicki, YOUNG, Sean

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Ritscher-Schinzel cranio-cerebello-cardiac (3C) syndrome: Report of four new cases and review von Leonardi, Michael L., Pai, G. Shashidhar, Wilkes, Beth, Lebel, Robert Roger

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Lovastatin Therapy for X-Linked Adrenoleukodystrophy: Clinical and Biochemical Observations on 12 Patients von Shashidhar Pai, G., Khan, Mushfiquddin, Barbosa, Ernest, Key, Lyndon L., Craver, Jeffery R., Curé, Joel K., Betros, Renée, Singh, Inderjit

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Restoration of phytanic acid oxidation in Refsum disease fibroblasts from patients with mutations in the phytanoyl-CoA hydroxylase gene von Chahal, Amarjit, Khan, Mushfiquddin, Pai, Shashidhar G, Barbosa, Ernest, Singh, Inderjit

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Diagnostic approach to children with birth defects von Pai, G S, Gadewar, S B

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Paternal uniparental disomy of chromosome 15 in a child with angelman syndrome von Nicholls, Robert D., Pai, G. Shashidhar, Gottlieb, Wayne, Cantú, Eduardo S.

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Evaluation of newborns with skeletal dysplasias von MACPHERSON, Roderick I, SHASHIDHAR PAI, G

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A new X linked recessive syndrome of mental retardation and mild dysmorphism maps to Xq28 von Pai, G S, Hane, B, Joseph, M, Nelson, R, Hammond, L S, Arena, J F, Lubs, H A, Stevenson, R E, Schwartz, C E

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Rare Focal Deletions Involving SNRPN and UBE3A Genes von Meck, Jeanne, Pineda-Alvarez, Daniel, Huang, Dongli, Braddock, Stephen, Al Balwi, Mohammed, Niet, Jessica, Valdez, Brenda Cristina Rios, McKnight, Dianalee, Downtain, Courtney, Pai, G. Shashidhar, deHoll, Leigh D, Matyakhina, Ludmila

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27 - Rare Focal Deletions Involving SNRPN and UBE3A Genes von Meck, Jeanne, Pineda-Alvarez, Daniel, Huang, Dongli, Braddock, Stephen, Al Balwi, Mohammed, Niet, Jessica, Valdez, Brenda Cristina Rios, McKnight, Dianalee, Downtain, Courtney, Pai, G. Shashidhar, deHoll, Leigh D., Matyakhina, Ludmila

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Molecular analysis of a complex chromosomal rearrangement and a review of familial cases von Batista, Denise A. S., Pai, G. Shashidhar, Stetten, Gail

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