Increased LIS1 expression affects human and mouse brain development von Lu, Xin-Yan, Horner, Michele, Day-Salvatore, Debra-Lynn, Sahoo, Trilochan, Withers, Marjorie A, Cheung, Sau Wai, Gunderson, Kevin L, Hunter, Jill V, Sapir, Tamar, Peiffer, Daniel A, Yanagawa, Yuchio, Reiner, Orly, Shchelochkov, Oleg A, Levy, Talia, Lupski, James R, Nezarati, Marjan M, Martinez, Salvador, Savage, Sarah K, Shinder, Vera, Harris, David J, Ann Shotts, Vern, Bi, Weimin, Amato, Stephen S, Beaudet, Arthur L, Zhang, Feng

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De novo mutations of KIAA2022 in females cause intellectual disability and intractable epilepsy von de Lange, Iris M, Helbig, Katherine L, Weckhuysen, Sarah, Møller, Rikke S, Velinov, Milen, Dolzhanskaya, Natalia, Marsh, Eric, Helbig, Ingo, Devinsky, Orrin, Tang, Sha, Mefford, Heather C, Myers, Candace T, van Paesschen, Wim, Striano, Pasquale, van Gassen, Koen, van Kempen, Marjan, de Kovel, Carolien G F, Piard, Juliette, Minassian, Berge A, Nezarati, Marjan M, Pessoa, André, Jacquette, Aurelia, Maher, Bridget, Balestrini, Simona, Sisodiya, Sanjay, Warde, Marie Therese Abi, De St Martin, Anne, Chelly, Jamel, van ‘t Slot, Ruben, Van Maldergem, Lionel, Brilstra, Eva H, Koeleman, Bobby P C

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MEIS2 sequence variant in a child with intellectual disability and cardiac defects: Expansion of the phenotypic spectrum and documentation of low‐level mosaicism in an unaffected p... von Su, Julia X., Velsher, Lea S., Juusola, Jane, Nezarati, Marjan M.

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An HNRNPK-specific DNA methylation signature makes sense of missense variants and expands the phenotypic spectrum of Au-Kline syndrome von Choufani, Sanaa, McNiven, Vanda, Cytrynbaum, Cheryl, Jangjoo, Maryam, Adam, Margaret P., Bjornsson, Hans T., Harris, Jacqueline, Dyment, David A., Graham, Gail E., Nezarati, Marjan M., Aul, Ritu B., Castiglioni, Claudia, Breckpot, Jeroen, Devriendt, Koen, Stewart, Helen, Banos-Pinero, Benito, Mehta, Sarju, Sandford, Richard, Dunn, Carolyn, Mathevet, Remi, van Maldergem, Lionel, Piard, Juliette, Brischoux-Boucher, Elise, Vitobello, Antonio, Faivre, Laurence, Bournez, Marie, Tran-Mau, Frederic, Maystadt, Isabelle, Fernández-Jaén, Alberto, Alvarez, Sara, García-Prieto, Irene Díez, Alkuraya, Fowzan S., Alsaif, Hessa S., Rahbeeni, Zuhair, El-Akouri, Karen, Al-Mureikhi, Mariam, Spillmann, Rebecca C., Shashi, Vandana, Sanchez-Lara, Pedro A., Graham, John M., Roberts, Amy, Chorin, Odelia, Evrony, Gilad D., Kraatari-Tiri, Minna, Dudding-Byth, Tracy, Richardson, Anamaria, Hunt, David, Hamilton, Laura, Dyack, Sarah, Mendelsohn, Bryce A., Rodríguez, Nicolás, Sánchez-Martínez, Rosario, Tenorio-Castaño, Jair, Nevado, Julián, Lapunzina, Pablo, Tirado, Pilar, Carminho Amaro Rodrigues, Maria-Teresa, Quteineh, Lina, Innes, A. Micheil, Kline, Antonie D., Au, P.Y. Billie, Weksberg, Rosanna

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An Additional Individual with a De Novo Variant in Myelin Regulatory Factor (MYRF) with Cardiac and Urogenital Anomalies: Further Proof of Causality: Comments on the article by Pin... von Chitayat, David, Shannon, Patrick, Uster, Tami, Nezarati, Marjan M., Schnur, Rhonda E., Bhoj, Elizabeth J.

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Diagnostic implications of pitfalls in causal variant identification based on 4577 molecularly characterized families von AlAbdi, Lama, Maddirevula, Sateesh, Shamseldin, Hanan E., Khouj, Ebtissal, Helaby, Rana, Hamid, Halima, Almulhim, Aisha, Hashem, Mais O., Abdulwahab, Firdous, Abouyousef, Omar, Alqahtani, Mashael, Altuwaijri, Norah, Jaafar, Amal, Alshidi, Tarfa, Alzahrani, Fatema, Alkuraya, Fowzan S.

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Recurrent arginine substitutions in the ACTG2 gene are the primary driver of disease burden and severity in visceral myopathy von Assia Batzir, Nurit, Kishor Bhagwat, Pranjali, Larson, Austin, Coban Akdemir, Zeynep, Bagłaj, Maciej, Bofferding, Leon, Bosanko, Katherine B., Bouassida, Skander, Callewaert, Bert, Cannon, Ashley, Enchautegui Colon, Yazmin, Garnica, Adolfo D., Harr, Margaret H., Heck, Sandra, Hurst, Anna C. E., Jhangiani, Shalini N., Isidor, Bertrand, Littlejohn, Rebecca O., Liu, Pengfei, Magoulas, Pilar, Mar Fan, Helen, Marom, Ronit, McLean, Scott, Nezarati, Marjan M., Nugent, Kimberly M., Petersen, Michael B., Rocha, Maria L., Roeder, Elizabeth, Smigiel, Robert, Tully, Ian, Weisfeld‐Adams, James, Wells, Katerina O., Posey, Jennifer E., Lupski, James R., Beaudet, Arthur L., Wangler, Michael F.

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The detection of a strong episignature for Chung–Jansen syndrome, partially overlapping with Börjeson–Forssman–Lehmann and White–Kernohan syndromes von Vos, Niels, Haghshenas, Sadegheh, van der Laan, Liselot, Russel, Perle K. M., Rooney, Kathleen, Levy, Michael A., Relator, Raissa, Kerkhof, Jennifer, McConkey, Haley, Maas, Saskia M., Vissers, Lisenka E. L. M., de Vries, Bert B. A., Pfundt, Rolph, Elting, Mariet W., van Hagen, Johanna M., Verbeek, Nienke E., Jongmans, Marjolijn C. J., Lakeman, Phillis, Rumping, Lynne, Bosch, Danielle G. M., Vitobello, Antonio, Thauvin-Robinet, Christel, Faivre, Laurence, Nambot, Sophie, Garde, Aurore, Willems, Marjolaine, Genevieve, David, Nicolas, Gaël, Busa, Tiffany, Toutain, Annick, Gérard, Marion, Bizaoui, Varoona, Isidor, Bertrand, Merla, Giuseppe, Accadia, Maria, Schwartz, Charles E., Ounap, Katrin, Hoffer, Mariëtte J. V., Nezarati, Marjan M., van den Boogaard, Marie-José H., Tedder, Matthew L., Rogers, Curtis, Brusco, Alfredo, Ferrero, Giovanni B., Spodenkiewicz, Marta, Sidlow, Richard, Mussa, Alessandro, Trajkova, Slavica, McCann, Emma, Mroczkowski, Henry J., Jansen, Sandra, Donker-Kaat, Laura, Duijkers, Floor A. M., Stuurman, Kyra E., Mannens, Marcel M. A. M., Alders, Mariëlle, Henneman, Peter, White, Susan M., Sadikovic, Bekim, van Haelst, Mieke M.

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A DNA repair disorder caused by de novo monoallelic DDB1 variants is associated with a neurodevelopmental syndrome von White, Susan M., Bhoj, Elizabeth, Nellåker, Christoffer, Lachmeijer, Augusta M.A., Marshall, Aren E., Boycott, Kym M., Li, Dong, Smith, Wendy, Hartley, Taila, McBride, Arran, Ernst, Michelle E., May, Alison S., Wieczorek, Dagmar, Abou Jamra, Rami, Koch-Hogrebe, Margarete, Õunap, Katrin, Pajusalu, Sander, van Gassen, K.L.I., Sadedin, Simon, Ellingwood, Sara, Tan, Tiong Yang, Christodoulou, John, Barea, Jaime, Lockhart, Paul J., Nezarati, Marjan M., Kernohan, Kristin D.

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Prenatal presentation of hereditary hemorrhagic telangiectasia - a report of two sibs von Saleh, Maha, Miron, Ioana, Al-Rukban, Hadeel, Chitayat, David, Nezarati, Marjan M.

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A patient with mutations in DNA Ligase IV: Clinical features and overlap with Nijmegen breakage syndrome von Ben‐Omran, Tawfeg I., Cerosaletti, Karen, Concannon, Patrick, Weitzman, Sheila, Nezarati, Marjan M.

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Dyssegmental dysplasia, Silverman-Handmaker type: prenatal ultrasound findings and molecular analysis von Ladhani, Noor Niyar N., Chitayat, David, Nezarati, Marjan M., Laureane, Mittaz Crettol, Keating, Sarah, Silver, Rachel J., Unger, Sheila, Velsher, Lea, Sirkin, Wilma, Toi, Ants, Glanc, Phyllis

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Phenotypic variability in hyperphosphatasia with seizures and neurologic deficit (Mabry syndrome) von Thompson, Miles D., Roscioli, Tony, Marcelis, Carlo, Nezarati, Marjan M., Stolte-Dijkstra, Irene, Sharom, Frances J., Lu, Peihua, Phillips, John A., Sweeney, Elizabeth, Robinson, Peter N., Krawitz, Peter, Yntema, Helger G., Andrade, Danielle M., Brunner, Han G., Cole, David E.C.

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Hyperphosphatasia with seizures, neurologic deficit, and characteristic facial features: Five new patients with Mabry syndrome von Thompson, Miles D., Nezarati, Marjan M., Gillessen-Kaesbach, Gabriele, Meinecke, Peter, Mendoza, Roberto, Mornet, Etienne, Brun-Heath, Isabelle, Squarcioni, Catherine Prost, Legeai-Mallet, Laurence, Munnich, Arnold, Cole, David E.C.

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Absence of signs of systemic involvement in four patients with bilateral multiple facial angiofibromas von Hunter, Alasdair G.W., Nezarati, Marjan M., Velsher, Lea

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13. Homozygosity mapping of Mabry syndrome: Identification of loci associated with alkaline phosphatase (ALP) gene over-expression or ALP protein over secretion von Thompson, Miles D, Nezarati, Marjan M, Gillessen-Kaesbach, Gabriele, Meinecke, Peter, Mornet, Etienne, Brun-Heath, Isabelle, Prost Squarcioni, Catherine, Cole, David E.C, Siminovitch, Kathy, Hwang, Paul A, McIntyre Burnham, W, Munnich, Arnold, Brunner, Han

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Phenotypic Heterogeneity of Genomic Disorders and Rare Copy-Number Variants von Girirajan, Santhosh, Rosenfeld, Jill A, Coe, Bradley P, Parikh, Sumit, Friedman, Neil, Goldstein, Amy, Filipink, Robyn A, McConnell, Juliann S, Angle, Brad, Meschino, Wendy S, Nezarati, Marjan M, Asamoah, Alexander, Jackson, Kelly E, Gowans, Gordon C, Martin, Judith A, Carmany, Erin P, Stockton, David W, Schnur, Rhonda E, Penney, Lynette S, Martin, Donna M, Raskin, Salmo, Leppig, Kathleen, Thiese, Heidi, Smith, Rosemarie, Aberg, Erika, Niyazov, Dmitriy M, Escobar, Luis F, El-Khechen, Dima, Johnson, Kisha D, Lebel, Robert R, Siefkas, Kiana, Ball, Susie, Shur, Natasha, McGuire, Marianne, Brasington, Campbell K, Spence, J. Edward, Martin, Laura S, Clericuzio, Carol, Ballif, Blake C, Shaffer, Lisa G, Eichler, Evan E

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Corrigendum to "Hyperphosphatasia With Seizures, Neurologic Deficit, and Characteristic Facial Features: Five New Patients With Mabry Syndrome" Am J Med Genet 152A: 1661-1669 von Thompson, Miles D., Nezarati, Marjan M., Gillessen-Kaesbach, Gabriele, Meinecke, Peter, Mendoza-Londono, Roberto, Mornet, Etienne, Brun-Heath, Isabelle, Squarcioni, Catherine Prost, Legeai-Mallet, Laurence, Munnich, Arnold, Cole, David E.C.

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7. Homozygosity mapping in Mabry syndrome: A syndrome with hyperphosphatasia with seizures, neurologic deficit and characteristic facial features von Thompson, Miles D, Nezarati, Marjan M, Mabry, Charleton C, Deardorff, Matthew A, Gillessen-Kaesbach, Gabriele, Meinecke, Peter, Squarcioni, Catherine Prost, Legeai-Mallet, Laurence, Munnich, Arnold, Siminovitch, Kathy, Marcelis, Carlo L, Brunner, Han G, Hwang, Paul A, Cole, David E.C

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The detection of a strong episignature for Chung-Jansen syndrome, partially overlapping with Börjeson-Forssman-Lehmann and White-Kernohan syndromes von Vos, Niels, Haghshenas, Sadegheh, van der Laan, Liselot, Russel, Perle K M, Rooney, Kathleen, Levy, Michael A, Relator, Raissa, Kerkhof, Jennifer, McConkey, Haley, Maas, Saskia M, Vissers, Lisenka E L M, de Vries, Bert B A, Pfundt, Rolph, Elting, Mariet W, van Hagen, Johanna M, Verbeek, Nienke E, Jongmans, Marjolijn C J, Lakeman, Phillis, Rumping, Lynne, Bosch, Danielle G M, Vitobello, Antonio, Thauvin-Robinet, Christel, Faivre, Laurence, Nambot, Sophie, Garde, Aurore, Willems, Marjolaine, Genevieve, David, Nicolas, Gaël, Busa, Tiffany, Toutain, Annick, Gérard, Marion, Bizaoui, Varoona, Isidor, Bertrand, Merla, Giuseppe, Accadia, Maria, Schwartz, Charles E, Ounap, Katrin, Hoffer, Mariëtte J V, Nezarati, Marjan M, van den Boogaard, Marie-José H, Tedder, Matthew L, Rogers, Curtis, Brusco, Alfredo, Ferrero, Giovanni B, Spodenkiewicz, Marta, Sidlow, Richard, Mussa, Alessandro, Trajkova, Slavica, McCann, Emma, Mroczkowski, Henry J, Jansen, Sandra, Donker-Kaat, Laura, Duijkers, Floor A M, Stuurman, Kyra E, Mannens, Marcel M A M, Alders, Mariëlle, Henneman, Peter, White, Susan M, Sadikovic, Bekim, van Haelst, Mieke M

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