Genotypic and phenotypic analysis of 396 individuals with mutations in Sonic Hedgehog von Solomon, Benjamin D, Bear, Kelly A, Wyllie, Adrian, Keaton, Amelia A, Dubourg, Christele, David, Veronique, Mercier, Sandra, Odent, Sylvie, Hehr, Ute, Paulussen, Aimee, Clegg, Nancy J, Delgado, Mauricio R, Bale, Sherri J, Lacbawan, Felicitas, Ardinger, Holly H, Aylsworth, Arthur S, Bhengu, Ntombenhle Louisa, Braddock, Stephen, Brookhyser, Karen, Burton, Barbara, Gaspar, Harald, Grix, Art, Horovitz, Dafne, Kanetzke, Erin, Kayserili, Hulya, Lev, Dorit, Nikkel, Sarah M, Norton, Mary, Roberts, Richard, Saal, Howard, Schaefer, G B, Schneider, Adele, Smith, Erika K, Sowry, Ellen, Spence, M Anne, Shalev, Stavit A, Steiner, Carlos E, Thompson, Elizabeth M, Winder, Thomas L, Balog, Joan Z, Hadley, Donald W, Zhou, Nan, Pineda-Alvarez, Daniel E, Roessler, Erich, Muenke, Maximilian

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Aggressive juvenile polyposis in children with chromosome 10q23 deletion von Septer, Seth, Zhang, Lei, Lawson, Caitlin E, Cocjin, Jose, Attard, Thomas, Ardinger, Holly H

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Comprehensive ZEB2 gene analysis for Mowat–Wilson syndrome in a North American cohort: A suggested approach to molecular diagnostics von Saunders, Carol J., Zhao, Weiwei, Ardinger, Holly H.

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Family history and clefting as major criteria for CHARGE syndrome von Hughes, Susan Starling, Welsh, Holly I., Safina, Nicole P., Bejaoui, Khemissa, Ardinger, Holly H.

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CDKN1C mutations and genital anomalies von Welsh, Holly I., Stockley, Tracy L., Parkinson, Nicole, Ardinger, Holly H.

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Expanding the phenotype of oculoectodermal syndrome: Possible relationship to encephalocraniocutaneous lipomatosis von Ardinger, Holly H., Horii, Kimberly A., Begleiter, Michael L.

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Identification and evaluation of mental retardation von Daily, D K, Ardinger, H H, Holmes, G E

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Petty syndrome and Fontaine–Farriaux syndrome: Delineation of a single syndrome von Braddock, Stephen R., Ardinger, Holly H., Yang, Chun‐Song, Paschal, Bryce M., Hall, Bryan D.

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Heterozygous deletion of the linked genes ZIC1 and ZIC4 is involved in Dandy-Walker malformation von Millen, Kathleen J, Grinberg, Inessa, Northrup, Hope, Ardinger, Holly, Prasad, Chitra, Dobyns, William B

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The Hunter–MacDonald syndrome with expanded phenotype including risk of meningioma: An update and review von Armstrong, Linlea, Graham, Gail E., Schimke, R. Neil, Collins, Debra L., Kirse, Daniel J., Costello, Fiona, Ardinger, Holly H.

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Classification of cardiovascular malformations associated with neuroblastoma von Lin, Angela, Ardinger, Holly H., Pierpont, Mary Ella

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Maternal serum screening and 22q11.2 deletion syndrome von Begleiter, Michael L., Lund, Molly M., Atherton, Andrea M., Buchholz, Janda D., Ardinger, Holly H.

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Proximal microdeletions and microduplications of 1q21.1 contribute to variable abnormal phenotypes von Rosenfeld, Jill A, Traylor, Ryan N, Schaefer, G Bradley, McPherson, Elizabeth W, Ballif, Blake C, Klopocki, Eva, Mundlos, Stefan, Shaffer, Lisa G, Aylsworth, Arthur S

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Mutations in IRF6 cause Van der Woude and popliteal pterygium syndromes von Dixon, Michael J, Lidral, Andrew C, Moretti-Ferreira, Danilo, Ardinger, Holly H, Moreno, Lina, Sander, Achim, Arcos-Burgos, Mauricio, Murray, Jeffrey C, Daack-Hirsch, Sandra, Richardson, Rebecca J, Watanabe, Yoriko, Schutte, Brian C, Aylsworth, Arthur S, Kondo, Shinji, Pober, Barbara R, Richieri-Costa, Antonio, Howard, Emma, Bjork, Bryan C, McDonald-McGinn, Donna M, Houdayer, Claude, Ferreira de Lima, Renata L.L, Bahuau, Michel, Lammer, Edward J, Knight, Alexandra S, Valencia, Consuelo, Zackai, Elaine H

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Clinical presentation of velo-cardio-facial syndrome von Ardinger, Holly H, Ardinger, Robert H

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Historical perspectives of velo-cardio-facial syndrome von Ardinger, Holly H, Ardinger, Robert H

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A child with terminal 14q deletion syndrome: Consideration of genotype–phenotype correlations von Schlade‐Bartusiak, Kamilla, Ardinger, Holly, Cox, Diane W.

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Total Absence of Ribs in a Newborn with Cerebrocostomandibular Syndrome von Lale, Seema, Ardinger, Holly, Mardis, Neil, Changho, Sheelah, Lancaster, Thomas, Singh, Vivekanand

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Genetic epidemiology of cardiovascular malformations von Lin, Angela E., Ardinger, Holly H.

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Association of transforming growth-factor alpha gene polymorphisms with nonsyndromic cleft palate only (CPO) von Shiang, R, Lidral, A C, Ardinger, H H, Buetow, K H, Romitti, P A, Munger, R G, Murray, J C

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