Generalized Overgrowth Syndromes With Prenatal Onset by Yachelevich, Naomi, MD

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Genotype - phenotype correlation in an adolescent girl with pathogenic PPARy genetic variation that caused severe hypertriglyceridemia and early onset type 2 diabetes by Gutierrez Alvarez, Ana, Yachelevich, Naomi, Kohn, Brenda, Brar, Preneet Cheema

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A Founder Mutation in VPS11 Causes an Autosomal Recessive Leukoencephalopathy Linked to Autophagic Defects by Zhang, Jinglan, Lachance, Véronik, Schaffner, Adam, Li, Xianting, Fedick, Anastasia, Kaye, Lauren E, Liao, Jun, Rosenfeld, Jill, Yachelevich, Naomi, Chu, Mary-Lynn, Mitchell, Wendy G, Boles, Richard G, Moran, Ellen, Tokita, Mari, Gorman, Elizabeth, Bagley, Kaytee, Zhang, Wei, Xia, Fan, Leduc, Magalie, Yang, Yaping, Eng, Christine, Wong, Lee-Jun, Schiffmann, Raphael, Diaz, George A, Kornreich, Ruth, Thummel, Ryan, Wasserstein, Melissa, Yue, Zhenyu, Edelmann, Lisa

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Transcriptome sequencing identifies a noncoding, deep intronic variant in CLCN7 causing autosomal recessive osteopetrosis by Chorin, Odelia, Yachelevich, Naomi, Mohamed, Khaled, Moscatelli, Ilana, Pappas, John, Henriksen, Kim, Evrony, Gilad D.

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ARSA Variant Associated With Late Infantile Metachromatic Leukodystrophy and Carrier Rate in Individuals of Ashkenazi Jewish Ancestry by Rabin, Rachel, Hirsch, Yoel, Booth, Kevin T A, Hall, Patricia L, Yachelevich, Naomi, Mistry, Pramod K, Ekstein, Josef, Pappas, John

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Partial Loss of USP9X Function Leads to a Male Neurodevelopmental and Behavioral Disorder Converging on Transforming Growth Factor β Signaling by Johnson, Brett V., Alexander, Suzy, Vega, Michelle Sanchez, Domingo, Deepti, Oh, Tracey, Lines, Matthew, Grønborg, Sabine, Mercier, Sandra, Küry, Sébastien, Billette de Villemeur, Thierry, Koolen, David A., Sa, Joaquim, Santiago-Fernández, Olaya, Fernández-Jaén, Alberto, Goldstein, Amy, Madan-Khetarpal, Suneeta, Sullivan, Jennifer A., Bacino, Carlos A., Baker, Eva, Bellen, Hugo J., Bernstein, Jonathan A., Bick, David P., Butte, Manish J., Davids, Mariska, Davidson, Jean M., Dayal, Jyoti G., Dhar, Shweta U., Douine, Emilie D., Draper, David D., Emrick, Lisa T., Esteves, Cecilia, Estwick, Tyra, Fernandez, Liliana, Ferreira, Carlos, Forghani, Irman, Friedman, Noah D., Gahl, William A., Godfrey, Rena A., Hanchard, Neil A., Jiang, Yong-hui, Karaviti, Lefkothea, Korrick, Susan, Koziura, Mary, Krier, Joel B., Lanpher, Brendan C., LeBlanc, Kimberly, Lee, Brendan H., Liu, Xue Zhong, Marwaha, Shruti, McCauley, Jacob, Morimoto, Marie, Nath, Avi, Nelson, Stan F., Newman, John H., Oglesbee, Devin, Orengo, James P., Pak, Stephen, Parker, Neil H., Phillips, John A., Reuter, Chloe M., Rives, Lynette, Robertson, Amy K., Rodan, Lance H., Sampson, Jacinda B., Schedl, Timothy, Shakachite, Lisa, Sharma, Prashant, Signer, Rebecca, Silverman, Edwin K., Sinsheimer, Janet S., Tekin, Mustafa, Thorson, Willa, Tran, Alyssa A., Vogel, Tiphanie P., Wahl, Colleen E., Walsh, Chris A., Wang, Lee-kai, Wangler, Michael F., Worthey, Elizabeth A., Yu, Guoyun, Zastrow, Diane B., Zhao, Chunli, Gahl, William, Sullivan, Jennifer A., Barnett, Sarah S., Perry, M. Scott, Schuette, Jane L., Smith, Laurie D., Rosenfeld, Jill A., Bhoj, Elizabeth, Kaplan, Paige, Oegema, Renske, Armstrong, Martin, Lin, Angela E., Hollander, Nicolette den, Hoffer, Mariëtte J.V., Mosher, Theresa Mihalic, Tezcan, Kamer, Penzes, Peter, Piper, Michael

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Genotype - phenotype correlation in an adolescent girl with pathogenic variant in PPARƴ gene causing severe hypertriglyceridemia and early onset type 2 diabetes by Gutierrez Alvarez, Ana, Yachelevich, Naomi, Kohn, Brenda, Brar, Preneet Cheema

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Growth disrupting mutations in epigenetic regulatory molecules are associated with abnormalities of epigenetic aging by Jeffries, Aaron R, Maroofian, Reza, Salter, Claire G, Chioza, Barry A, Cross, Harold E, Patton, Michael A, Dempster, Emma, Temple, I Karen, Mackay, Deborah J G, Rezwan, Faisal I, Aksglaede, Lise, Baralle, Diana, Dabir, Tabib, Hunter, Matthew F, Kamath, Arveen, Kumar, Ajith, Newbury-Ecob, Ruth, Selicorni, Angelo, Springer, Amanda, Van Maldergem, Lionel, Varghese, Vinod, Yachelevich, Naomi, Tatton-Brown, Katrina, Mill, Jonathan, Crosby, Andrew H, Baple, Emma L

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Heterozygous ANKRD17 loss-of-function variants cause a syndrome with intellectual disability, speech delay, and dysmorphism by Chopra, Maya, McEntagart, Meriel, Clayton-Smith, Jill, Platzer, Konrad, Shukla, Anju, Girisha, Katta M., Kaur, Anupriya, Kaur, Parneet, Pfundt, Rolph, Veenstra-Knol, Hermine, Mancini, Grazia M.S., Cappuccio, Gerarda, Brunetti-Pierri, Nicola, Kortüm, Fanny, Hempel, Maja, Denecke, Jonas, Lehman, Anna, Kleefstra, Tjitske, Stuurman, Kyra E., Wilke, Martina, Thompson, Michelle L., Bebin, E. Martina, Bijlsma, Emilia K., Hoffer, Mariette J.V., Peeters-Scholte, Cacha, Slavotinek, Anne, Weiss, William A., Yip, Tiffany, Hodoglugil, Ugur, Whittle, Amy, diMonda, Janette, Neira, Juanita, Yang, Sandra, Kirby, Amelia, Pinz, Hailey, Lechner, Rosan, Sleutels, Frank, Helbig, Ingo, McKeown, Sarah, Helbig, Katherine, Willaert, Rebecca, Juusola, Jane, Semotok, Jennifer, Hadonou, Medard, Short, John, Yachelevich, Naomi, Lala, Sajel, Fernández-Jaen, Alberto, Pelayo, Janvier Porta, Klöckner, Chiara, Kamphausen, Susanne B., Abou Jamra, Rami, Arelin, Maria, Innes, A. Micheil, Niskakoski, Anni, Amin, Sam, Williams, Maggie, Evans, Julie, Smithson, Sarah, Smedley, Damian, de Burca, Anna, Kini, Usha, Delatycki, Martin B., Gallacher, Lyndon, Yeung, Alison, Pais, Lynn, Field, Michael, Martin, Ellenore, Charles, Perrine, Courtin, Thomas, Keren, Boris, Iascone, Maria, Cereda, Anna, Poke, Gemma, Abadie, Véronique, Chalouhi, Christel, Parthasarathy, Padmini, Halliday, Benjamin J., Robertson, Stephen P., Lyonnet, Stanislas, Amiel, Jeanne, Gordon, Christopher T.

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Structural Chromosomal Rearrangements Require Nucleotide-Level Resolution: Lessons from Next-Generation Sequencing in Prenatal Diagnosis by Ordulu, Zehra, Kammin, Tammy, Brand, Harrison, Pillalamarri, Vamsee, Redin, Claire E., Collins, Ryan L., Blumenthal, Ian, Hanscom, Carrie, Pereira, Shahrin, Bradley, India, Crandall, Barbara F., Gerrol, Pamela, Hayden, Mark A., Hussain, Naveed, Kanengisser-Pines, Bibi, Kantarci, Sibel, Levy, Brynn, Macera, Michael J., Quintero-Rivera, Fabiola, Spiegel, Erica, Stevens, Blair, Ulm, Janet E., Warburton, Dorothy, Wilkins-Haug, Louise E., Yachelevich, Naomi, Gusella, James F., Talkowski, Michael E., Morton, Cynthia C.

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The Tatton-Brown-Rahman Syndrome: A clinical study of 55 individuals with de novo constitutive DNMT3A variants by Tatton-Brown, Katrina, Zachariou, Anna, Loveday, Chey, Renwick, Anthony, Mahamdallie, Shazia, Aksglaede, Lise, Baralle, Diana, Barge-Schaapveld, Daniela, Blyth, Moira, Bouma, Mieke, Breckpot, Jeroen, Crabb, Beau, Dabir, Tabib, Cormier-Daire, Valerie, Fauth, Christine, Fisher, Richard, Gener, Blanca, Goudie, David, Homfray, Tessa, Hunter, Matthew, Jorgensen, Agnete, Kant, Sarina G, Kirally-Borri, Cathy, Koolen, David, Kumar, Ajith, Labilloy, Anatalia, Lees, Melissa, Marcelis, Carlo, Mercer, Catherine, Mignot, Cyril, Miller, Kathryn, Neas, Katherine, Newbury-Ecob, Ruth, Pilz, Daniela T, Posmyk, Renata, Prada, Carlos, Ramsey, Keri, Randolph, Linda M, Selicorni, Angelo, Shears, Deborah, Suri, Mohnish, Temple, I Karen, Turnpenny, Peter, Val Maldergem, Lionel, Varghese, Vinod, Veenstra-Knol, Hermine E, Yachelevich, Naomi, Yates, Laura, Rahman, Nazneen

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Enzyme replacement therapy with investigational rhGUS in an infant with non-immune hydrops fetalis and mucopolysaccharidosis type VII by Lau, Heather A., Parmar, Swapnil, Kazachkov, Mikhail, Shah, Rasikial, Wells, John, Yachelevich, Naomi, Chopra, Arun, Haller, Christine, Kakkis, Emil

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Heterozygous ANKRD17 loss of function variants cause a syndrome with intellectual disability, speech delay and dysmorphism by Chopra, Maya, McEntagart, Meriel, Clayton-Smith, Jill, Platzer, Konrad, Shukla, Anju, Girisha, Katta, Kaur, Anupriya, Kaur, Parmeet, Pfundt, Rolph, Veenstra-Knol, Hermine, Mancini, Grazia, Capuccio, Gerarda, Brunetti-Pierri, Nicola, Kortüm, Fanny, Hempel, Maja, Denecke, Jonas, Lehman, Anna, Kleefstra, Tjitske, Stuurman, Kyra, Wilke, Martina, Thompson, Michelle, Bebin, Martina, Bijlsma, Emilia, Hoffer, Mariette, Peters-Scholte, Cacha, Slavotinek, Anne, Weiss, William, Yip, Tiffany, Hodoglugil, Ugur, Whittle, Amy, diMonda, Janette, Neira, Juanita, Yang, Sandra, Kirby, Amelia, Pinz, Hailey, Lechner, Rosan, Sleutels, Frank, Helbig, Ingo, McKeown, Sarah, Helbig, Katherine, Yachelevich, Naomi, Wilaert, Rebecca, Juusola, Jane, Semotok, Jennifer, Hadonou, Medard, Short, John, Lala, Sajel, Fernández-Jaen, Alberto, Pelayo, Janvier Porta, Kloechner, Chiara, Kamphausen, Susanne, Jamra, Rami, Arelin, Maria, Innes, Micheil, Niskakoski, Anni, Amin, Sam, Williams, Maggie, Evans, Julie, Smithson, Sarah, Smedley, Damien, de Burca, Anna, Kini, Usha, Lyonnet, Stanislas, Amiel, Jeanne, Gordon, Christopher

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eP148 - Heterozygous ANKRD17 loss of function variants cause a syndrome with intellectual disability, speech delay and dysmorphism by Chopra, Maya, McEntagart, Meriel, Clayton-Smith, Jill, Platzer, Konrad, Shukla, Anju, Girisha, Katta, Kaur, Anupriya, Kaur, Parmeet, Pfundt, Rolph, Veenstra-Knol, Hermine, Mancini, Grazia, Capuccio, Gerarda, Brunetti-Pierri, Nicola, Kortüm, Fanny, Hempel, Maja, Denecke, Jonas, Lehman, Anna, Kleefstra, Tjitske, Stuurman, Kyra, Wilke, Martina, Thompson, Michelle, Bebin, Martina, Bijlsma, Emilia, Hoffer, Mariette, Peters-Scholte, Cacha, Slavotinek, Anne, Weiss, William, Yip, Tiffany, Hodoglugil, Ugur, Whittle, Amy, diMonda, Janette, Neira, Juanita, Yang, Sandra, Kirby, Amelia, Pinz, Hailey, Lechner, Rosan, Sleutels, Frank, Helbig, Ingo, McKeown, Sarah, Helbig, Katherine, Yachelevich, Naomi, Wilaert, Rebecca, Juusola, Jane, Semotok, Jennifer, Hadonou, Medard, Short, John, Lala, Sajel, Fernández-Jaen, Alberto, Pelayo, Janvier Porta, Kloechner, Chiara, Kamphausen, Susanne, Jamra, Rami, Arelin, Maria, Innes, Micheil, Niskakoski, Anni, Amin, Sam, Williams, Maggie, Evans, Julie, Smithson, Sarah, Smedley, Damien, de Burca, Anna, Kini, Usha, Lyonnet, Stanislas, Amiel, Jeanne, Gordon, Christopher

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SUN-274 Unusual Case of Beckwith Weidemann Syndrome with Spontaneous Resolution of a Hepatic Mass by Sodhi, Misha, Kubhar, Dineeta, Mehta, Shilpa, Yachelevich, Naomi, Chang, Lucy, Shah, Bina

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Partial loss of USP9X function leads to a male neurodevelopmental and behavioural disorder converging on TGFβ signalling by Johnson, Brett V., Kumar, Raman, Oishi, Sabrina, Alexander, Suzy, Kasherman, Maria, Vega, Michelle Sanchez, Ivancevic, Atma, Gardner, Alison, Domingo, Deepti, Corbett, Mark, Parnell, Euan, Yoon, Sehyoun, Oh, Tracey, Lines, Matthew, Lefroy, Henrietta, Kini, Usha, Van Allen, Margot, Grønborg, Sabine, Mercier, Sandra, Küry, Sébastien, Bézieau, Stéphane, Pasquier, Laurent, Raynaud, Martine, Afenjar, Alexandra, de Villemeur, Thierry Billette, Keren, Boris, Désir, Julie, Van Maldergem, Lionel, Marangoni, Martina, Dikow, Nicola, Koolen, David A., VanHasselt, Peter M., Weiss, Marjan, Zwijnenburg, Petra, Sa, Joaquim, Reis, Claudia Falcao, López-Otín, Carlos, Santiago-Fernández, Olaya, Fernández-Jaén, Alberto, Rauch, Anita, Steindl, Katharina, Joset, Pascal, Goldstein, Amy, Madan-Khetarpal, Suneeta, Infante, Elena, Zackai, Elaine, Mcdougall, Carey, Narayanan, Vinodh, Ramsey, Keri, Mercimek-Andrews, Saadet, Pena, Loren, Shashi, Vandana, Schoch, Kelly, Sullivan, Jennifer A., Pinto e Vairo, Filippo, Pichurin, Pavel N., Ewing, Sarah A., Barnett, Sarah S., Klee, Eric W., Perry, M. Scott, Koenig, Mary Kay, Keegan, Catherine E., Schuette, Jane L., Asher, Stephanie, Perilla-Young, Yezmin, Smith, Laurie D., Rosenfeld, Jill A., Bhoj, Elizabeth, Kaplan, Paige, Li, Dong, Oegema, Renske, van Binsbergen, Ellen, van der Zwaag, Bert, Smeland, Marie Falkenberg, Cutcutache, Ioana, Page, Matthew, Armstrong, Martin, Lin, Angela E., Steeves, Marcie A., den Hollander, Nicolette, Hoffer, Mariëtte J V, Reijnders, Margot R.F., Demirda, Serwet, Koboldt, Daniel C., Bartholomew, Dennis, Mosher, Theresa Mihalic, Hickey, Scott E., Shieh, Christine, Sanchez-Lara, Pedro A., Graham, John M., Tezcan, Kamer, Schaefer, G. B., Danylchuk, Noelle R., Asamoah, Alexander, Jackson, Kelly E., Yachelevich, Naomi, Au, Margaret, Pérez-Jurado, Luis A., Kleefstra, Tjitske

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Terminal deletions of the long arm of chromosome X that include the FMR1 gene in female patients: A case series by Yachelevich, Naomi, Gittler, Julia Klein, Klugman, Susan, Feldman, Barbara, Martin, Joanna, Brooks, Susan Sklower, Dobkin, Carl, Nolin, Sarah L.

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Wolf-Hirschhorn syndrome and ectrodactyly: New findings and a review of the literature by Shanske, Alan L., Yachelevich, Naomi, Ala-Kokko, Leena, Leonard, Jay, Levy, Brynn

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Genotype - phenotype correlation in an adolescent girl with pathogenic PPARy genetic variation that caused severe hypertriglyceridemia and early onset type 2 diabetes by Gutierrez Alvarez, Ana, Yachelevich, Naomi, Kohn, Brenda, Brar, Preneet Cheema

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No need to tax the sick: clinical guidelines for rofecoxib as an alternative effective method to the copayment policy in the advent of increasing pharmaceutical expenditures by Rosen, Yitzhak, Yachelevich, Naomi, Benedek, Paul, Grotto, Itamar, Goldberg, Avishy, Morad, Yair, Marom, Hadar, Ohana, Nissim, Bar-Dayan, Yaron

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