Oocyte specific oolemmal SAS1B involved in sperm binding through intra-acrosomal SLLP1 during fertilization by Sachdev, Monika, Mandal, Arabinda, Mulders, Sabine, Digilio, Laura C., Panneerdoss, Subbarayalu, Suryavathi, Viswanadhapalli, Pires, Eusebio, Klotz, Kenneth L., Hermens, Laura, Herrero, María Belén, Flickinger, Charles J., van Duin, Marcel, Herr, John C.

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SAMP14, a Novel, Acrosomal Membrane-associated, Glycosylphosphatidylinositol-anchored Member of the Ly-6/Urokinase-type Plasminogen Activator Receptor Superfamily with a Role in Sp... by Shetty, Jagathpala, Wolkowicz, Michael J., Digilio, Laura C., Klotz, Kenneth L., Jayes, Friederike L., Diekman, Alan B., Westbrook, V.Anne, Farris, Erin M., Hao, Zhonglin, Coonrod, Scott A., Flickinger, Charles J., Herr, John C.

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Biochemical and Structural Characterization of Apolipoprotein A-I Binding Protein, a Novel Phosphoprotein with a Potential Role in Sperm Capacitation by Jha, Kula N, Shumilin, Igor A, Digilio, Laura C, Chertihin, Olga, Zheng, Heping, Schmitz, Gerd, Visconti, Pablo E, Flickinger, Charles J, Minor, Wladek, Herr, John C

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Mouse SLLP1, a sperm lysozyme-like protein involved in sperm–egg binding and fertilization by Herrero, María Belén, Mandal, Arabinda, Digilio, Laura C., Coonrod, Scott A., Maier, Bernhard, Herr, John C.

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Oolemmal proteomics--identification of highly abundant heat shock proteins and molecular chaperones in the mature mouse egg and their localization on the plasma membrane by Calvert, Meredith E, Digilio, Laura C, Herr, John C, Coonrod, Scott A

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Identification of an Oolemmal Receptor for the Sperm Acrosomal Ligand, SLLP1 by Mandal, Arabinda, Sachdev, Monika, Digilio, Laura C., Flickinger, Charles J., Herr, John C.

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Mammalian RNA Binding Proteins ECAT1 and HOEP19 Reveal Oocyte Prepatterning Locus by Sachdev, Monika, Mandal, Arabinda, Chertihin, Olga, Digilio, Laura C., Thomas, Theodore, Frierson, Henry F., Flickinger, Charles J., Herr, John C.

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CABYR binds to AKAP3 and Ropporin in the human sperm fibrous sheath by Li, Yan-Feng, He, Wei, Mandal, Arabinda, Kim, Young-Hwan, Digilio, Laura, Klotz, Ken, Flickinger, Charles J, Herr, John C

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Degradation of dendritic cargos requires Rab7-dependent transport to somatic lysosomes by Yap, Chan Choo, Digilio, Laura, McMahon, Lloyd P, Garcia, A Denise R, Winckler, Bettina

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Heterozygous Germline Mutations in the CBL Tumor-Suppressor Gene Cause a Noonan Syndrome-like Phenotype by Martinelli, Simone, De Luca, Alessandro, Stellacci, Emilia, Rossi, Cesare, Checquolo, Saula, Lepri, Francesca, Caputo, Viviana, Silvano, Marianna, Buscherini, Francesco, Consoli, Federica, Ferrara, Grazia, Digilio, Maria C., Cavaliere, Maria L., van Hagen, Johanna M., Zampino, Giuseppe, van der Burgt, Ineke, Ferrero, Giovanni B., Mazzanti, Laura, Screpanti, Isabella, Yntema, Helger G., Nillesen, Willy M., Savarirayan, Ravi, Zenker, Martin, Dallapiccola, Bruno, Gelb, Bruce D., Tartaglia, Marco

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ACTB Loss-of-Function Mutations Result in a Pleiotropic Developmental Disorder by Cuvertino, Sara, Stuart, Helen M., Chandler, Kate E., Roberts, Neil A., Armstrong, Ruth, Bernardini, Laura, Bhaskar, Sanjeev, Callewaert, Bert, Clayton-Smith, Jill, Davalillo, Cristina Hernando, Deshpande, Charu, Devriendt, Koenraad, Digilio, Maria C., Dixit, Abhijit, Edwards, Matthew, Friedman, Jan M., Gonzalez-Meneses, Antonio, Joss, Shelagh, Kerr, Bronwyn, Lampe, Anne Katrin, Langlois, Sylvie, Lennon, Rachel, Loget, Philippe, Ma, David Y.T., McGowan, Ruth, Des Medt, Maryse, O’Sullivan, James, Odent, Sylvie, Parker, Michael J., Pebrel-Richard, Céline, Petit, Florence, Stark, Zornitza, Stockler-Ipsiroglu, Sylvia, Tinschert, Sigrid, Vasudevan, Pradeep, Villa, Olaya, White, Susan M., Zahir, Farah R., Woolf, Adrian S., Banka, Siddharth

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SOS1 mutations in Noonan syndrome: molecular spectrum, structural insights on pathogenic effects, and genotype-phenotype correlations by Lepri, Francesca, De Luca, Alessandro, Stella, Lorenzo, Rossi, Cesare, Baldassarre, Giuseppina, Pantaleoni, Francesca, Cordeddu, Viviana, Williams, Bradley J., Dentici, Maria L., Caputo, Viviana, Venanzi, Serenella, Bonaguro, Michela, Kavamura, Ines, Faienza, Maria F., Pilotta, Alba, Stanzial, Franco, Faravelli, Francesca, Gabrielli, Orazio, Marino, Bruno, Neri, Giovanni, Silengo, Margherita Cirillo, Ferrero, Giovanni B., Torrrente, Isabella, Selicorni, Angelo, Mazzanti, Laura, Digilio, Maria C., Zampino, Giuseppe, Dallapiccola, Bruno, Gelb, Bruce D., Tartaglia, Marco

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Complete Sequence of the 22q11.2 Allele in 1,053 Subjects with 22q11.2 Deletion Syndrome Reveals Modifiers of Conotruncal Heart Defects by Zhao, Yingjie, Diacou, Alexander, Johnston, H. Richard, Musfee, Fadi I., McDonald-McGinn, Donna M., McGinn, Daniel, Crowley, T. Blaine, Repetto, Gabriela M., Swillen, Ann, Breckpot, Jeroen, Vermeesch, Joris R., Kates, Wendy R., Digilio, M. Cristina, Unolt, Marta, Marino, Bruno, Pontillo, Maria, Armando, Marco, Di Fabio, Fabio, Vicari, Stefano, van den Bree, Marianne, Moss, Hayley, Owen, Michael J., Murphy, Kieran C., Murphy, Clodagh M., Murphy, Declan, Schoch, Kelly, Shashi, Vandana, Tassone, Flora, Simon, Tony J., Shprintzen, Robert J., Campbell, Linda, Philip, Nicole, Heine-Suñer, Damian, García-Miñaúr, Sixto, Fernández, Luis, Antonarakis, Stylianos E., Biondi, Massimo, Boot, Erik, Breetvelt, Elemi, Busa, Tiffany, Butcher, Nancy, Buzzanca, Antonino, Carmel, Miri, Cleynen, Isabelle, Cutler, David, Dallapiccola, Bruno, de la Fuente Sanches, María Angeles, Epstein, Michael P., Evers, Rens, Fernandez, Luis, Fritsch, Rosemarie, Algas, Fernando García, Guo, Tingwei, Gur, Raquel, Hestand, Matthew S., Heung, Tracy, Hooper, Stephen, Jin, Andrea, Kushan-Wells, Leila, Laorden-Nieto, Alejandra Teresa, Lattanzi, Guido, Marshall, Christian, McCabe, Kathryn, Michaelovsky, Elena, Ornstein, Claudia, Silversides, Candice, Tran, Oanh, van Duin, Esther D.A., Vergaelen, Elfi, Warren, Steve T., Weinberger, Ronnie, Weizman, Abraham, Zhang, Zhengdong, Zwick, Michael, Bearden, Carrie E., Vingerhoets, Claudia, van Amelsvoort, Therese, Eliez, Stephan, Schneider, Maude, Vorstman, Jacob A.S., Gothelf, Doron, Zackai, Elaine, Agopian, A.J., Gur, Raquel E., Bassett, Anne S., Emanuel, Beverly S., Goldmuntz, Elizabeth, Mitchell, Laura E., Wang, Tao, Morrow, Bernice E.

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Protection against cholera from killed whole-cell oral cholera vaccines: a systematic review and meta-analysis by Bi, Qifang, Ferreras, Eva, Pezzoli, Lorenzo, Legros, Dominique, Ivers, Louise C, Date, Kashmira, Qadri, Firdausi, Digilio, Laura, Sack, David A, Ali, Mohammad, Lessler, Justin, Luquero, Francisco J, Azman, Andrew S, Cavailler, Philippe, Date, Kashmira, Sreenivasan, Nandini, Matzger, Helen, Luquero, Francisco, Grais, Rebecca, Wiesner, Lale, Ko, Melissa, Rouzier, Vanessa, Peak, Corey, Qadri, Firdausi, Landegger, Justine, Lynch, Julia, Azman, Andrew, Sack, David, Henkens, Myriam, Ciglenecki, Iza, Ivers, Louise, Diggle, Emma, Weiss, Mitchell, Hinman, Alan, Maina, Kahindo, Mirza, Imran, Gimeno, Guillermo, Levine, Myron

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Germline BRAF mutations in Noonan, LEOPARD, and cardiofaciocutaneous syndromes: Molecular diversity and associated phenotypic spectrum by Sarkozy, Anna, Carta, Claudio, Moretti, Sonia, Zampino, Giuseppe, Digilio, Maria C, Pantaleoni, Francesca, Scioletti, Anna Paola, Esposito, Giorgia, Cordeddu, Viviana, Lepri, Francesca, Petrangeli, Valentina, Dentici, Maria L, Mancini, Grazia M.S, Selicorni, Angelo, Rossi, Cesare, Mazzanti, Laura, Marino, Bruno, Ferrero, Giovanni B, Silengo, Margherita Cirillo, Memo, Luigi, Stanzial, Franco, Faravelli, Francesca, Stuppia, Liborio, Puxeddu, Efisio, Gelb, Bruce D, Dallapiccola, Bruno, Tartaglia, Marco

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Identifying phenotypic expansions for congenital diaphragmatic hernia plus (CDH+) using DECIPHER data by Hardcastle, Amy, Berry, Aliska M., Campbell, Ian M., Zhao, Xiaonan, Liu, Pengfei, Gerard, Amanda E., Rosenfeld, Jill A., Sisoudiya, Saumya D., Hernandez‐Garcia, Andres, Loddo, Sara, Di Tommaso, Silvia, Novelli, Antonio, Dentici, Maria L., Capolino, Rossella, Digilio, Maria C., Graziani, Ludovico, Rustad, Cecilie F., Neas, Katherine, Ferrero, Giovanni B., Brusco, Alfredo, Di Gregorio, Eleonora, Wellesley, Diana, Beneteau, Claire, Joubert, Madeleine, Van Den Bogaert, Kris, Boogaerts, Anneleen, McMullan, Dominic J., Dean, John, Giuffrida, Maria G., Bernardini, Laura, Varghese, Vinod, Shannon, Nora L., Harrison, Rachel E., Lam, Wayne W. K., McKee, Shane, Turnpenny, Peter D., Cole, Trevor, Morton, Jenny, Eason, Jacqueline, Jones, Marilyn C., Hall, Rebecca, Wright, Michael, Horridge, Karen, Shaw, Chad A., Chung, Wendy K., Scott, Daryl A.

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Small 4p16.3 deletions: Three additional patients and review of the literature by Bernardini, Laura, Radio, Francesca C., Acquaviva, Fabio, Gorgone, Cristina, Postorivo, Diana, Torres, Barbara, Alesi, Viola, Magliozzi, Monia, Lonardo, Fortunato, Monica, Matteo Della, Nardone, Anna M., Cesario, Claudia, Mattina, Teresa, Scarano, Gioacchino, Dallapiccola, Bruno, Digilio, Maria C., Novelli, Antonio

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Expanding the clinical phenotype of individuals with a 3-bp in-frame deletion of the NF1 gene (c.2970_2972del): an update of genotype-phenotype correlation by Koczkowska, Magdalena, Callens, Tom, Gomes, Alicia, Sharp, Angela, Chen, Yunjia, Hicks, Alesha D, Aylsworth, Arthur S, Azizi, Amedeo A, Basel, Donald G, Bellus, Gary, Bird, Lynne M, Blazo, Maria A, Burke, Leah W, Cannon, Ashley, Collins, Felicity, DeFilippo, Colette, Denayer, Ellen, Digilio, Maria C, Dills, Shelley K, Dosa, Laura, Greenwood, Robert S, Griffis, Cristin, Gupta, Punita, Hachen, Rachel K, Hernández-Chico, Concepción, Janssens, Sandra, Jones, Kristi J, Jordan, Justin T, Kannu, Peter, Korf, Bruce R, Lewis, Andrea M, Listernick, Robert H, Lonardo, Fortunato, Mahoney, Maurice J, Ojeda, Mayra Martinez, McDonald, Marie T, McDougall, Carey, Mendelsohn, Nancy, Miller, David T, Mori, Mari, Oostenbrink, Rianne, Perreault, Sebastién, Pierpont, Mary Ella, Piscopo, Carmelo, Pond, Dinel A, Randolph, Linda M, Rauen, Katherine A, Rednam, Surya, Rutledge, S Lane, Saletti, Veronica, Schaefer, G Bradley, Schorry, Elizabeth K, Scott, Daryl A, Shugar, Andrea, Siqveland, Elizabeth, Starr, Lois J, Syed, Ashraf, Trapane, Pamela L, Ullrich, Nicole J, Wakefield, Emily G, Walsh, Laurence E, Wangler, Michael F, Zackai, Elaine, Claes, Kathleen B M, Wimmer, Katharina, van Minkelen, Rick, De Luca, Alessandro, Martin, Yolanda, Legius, Eric, Messiaen, Ludwine M

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Targeted deletion of Tssk1 and 2 causes male infertility due to haploinsufficiency by Xu, Bingfang, Hao, Zhonglin, Jha, Kula N., Zhang, Zhibing, Urekar, Craig, Digilio, Laura, Pulido, Silvia, Strauss, Jerome F., Flickinger, Charles J., Herr, John C.

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FSCB, a Novel Protein Kinase A-phosphorylated Calcium-binding Protein, Is a CABYR-binding Partner Involved in Late Steps of Fibrous Sheath Biogenesis by Li, Yan-Feng, He, Wei, Jha, Kula N., Klotz, Ken, Kim, Young-Hwan, Mandal, Arabinda, Pulido, Silvia, Digilio, Laura, Flickinger, Charles J., Herr, John C.

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