A Syndromic Intellectual Disability Disorder Caused by Variants in TELO2, a Gene Encoding a Component of the TTT Complex von You, Jing, Sobreira, Nara L., Gable, Dustin L., Jurgens, Julie, Grange, Dorothy K., Belnap, Newell, Siniard, Ashley, Szelinger, Szabolcs, Schrauwen, Isabelle, Richholt, Ryan F., Vallee, Stephanie E., Dinulos, Mary Beth P., Valle, David, Armanios, Mary, Hoover-Fong, Julie

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Syndromic disorders caused by gain-of-function variants in KCNH1, KCNK4, and KCNN3-a subgroup of K+ channelopathies von Gripp, Karen W., Smithson, Sarah F., Scurr, Ingrid J., Baptista, Julia, Majumdar, Anirban, Pierre, Germaine, Williams, Maggie, Henderson, Lindsay B., Wentzensen, Ingrid M., McLaughlin, Heather, Leeuwen, Lisette, Simon, Marleen E. H., van Binsbergen, Ellen, Dinulos, Mary Beth P., Kaplan, Julie D., McRae, Anne, Superti-Furga, Andrea, Good, Jean-Marc, Kutsche, Kerstin

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Ehlers-Danlos syndrome hypermobility type is associated with rheumatic diseases von Rodgers, Kyla R., Gui, Jiang, Dinulos, Mary Beth P., Chou, Richard C.

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P738: Novel PIGA-related disorder gene variant: Whole exome sequencing, postmortem sample analysis, and updated variant classification solves 20+ year diagnostic odyssey von Parra, Ourania, Hughes, Edward, Wright, Dana, Vallee, Stephanie, Dinulos, Mary Beth, Khan, Wahab

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Connexin 43 (GJA1) Mutations Cause the Pleiotropic Phenotype of Oculodentodigital Dysplasia von Paznekas, William A., Boyadjiev, Simeon A., Shapiro, Robert E., Daniels, Otto, Wollnik, Bernd, Keegan, Catherine E., Innis, Jeffrey W., Dinulos, Mary Beth, Christian, Cathy, Hannibal, Mark C., Jabs, Ethylin Wang

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6q25.1 (TAB2) microdeletion syndrome: Congenital heart defects and cardiomyopathy von Cheng, Andrew, Dinulos, Mary Beth P., Neufeld‐Kaiser, Whitney, Rosenfeld, Jill, Kyriss, McKenna, Madan‐Khetarpal, Suneeta, Risheg, Hiba, Byers, Peter H., Liu, Yajuan J.

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Maternally inherited 133kb deletion of 14q32 causing Kagami-Ogata syndrome von Jung, Hou-Sung, Vallee, Stephanie E, Dinulos, Mary Beth, Tsongalis, Gregory J, Lefferts, Joel A

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A Maternally Inherited 133 kb Deletion of 14q32.2q32.31 Associated with a Paternal Uniparental Disomy 14 Phenotype von Vallee, Stephanie E, Tafe, Laura J, Dinulos, Mary Beth P, Tsongalis, Gregory J, Lefferts, Joel A

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Bilateral Radial Ray Defects: An Atypical Presentation of 16p11.2 Microdeletion Syndrome von Vallee, Stephanie E, Tafe, Laura J, Reader, Elizabeth, Dinulos, Mary Beth P, Bao, Liming, Tsongalis, Gregory J, Lefferts, Joel A

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A Mosaic Copy Number Gain of 5p15.3p13.3 von Valle, Stephanie E, Tafe, Laura J, Reader, Elizabeth I, Bao, Liming, Dinulos, Mary Beth P, Tsongalis, Gregory J, Lefferts, Joel A

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eP361 - Assessment and implementation of the Agilent Magnis and Alissa Clinical Informatics Platform for whole exome sequencing von Hughes, Edward, Toledo, Diana, LaRochelle, Ethan, Green, Donald, Vallee, Stephanie, Lefferts, Joel, Dinulos, Mary Beth, Tsongalis, Gregory, Khan, Wahab

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Assessment and implementation of the Agilent Magnis and Alissa Clinical Informatics Platform for whole exome sequencing von Hughes, Edward, Toledo, Diana, LaRochelle, Ethan, Green, Donald, Vallee, Stephanie, Lefferts, Joel, Dinulos, Mary Beth, Tsongalis, Gregory, Khan, Wahab

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A familial missense mutation in the hinge region of DAX1 associated with late-onset AHC in a prepubertal female von Bernard, Pascal, Ludbrook, Louisa, Queipo, Gloria, Dinulos, Mary-Beth, Kletter, Gad B., Zhang, Yao-Hua, Phelan, James K., McCabe, Edward R.B., Harley, Vincent R., Vilain, Eric

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Considerations for policymakers for improving health care through telegenetics: A points to consider statement of the American College of Medical Genetics and Genomics (ACMG) von Williams, Heather E., Aiyar, Lila, Dinulos, Mary Beth, Flannery, David, McClure, Michelle L., Lloyd-Puryear, Michele A., Sanghavi, Kunal, Trotter, Tracy L., Viskochil, David

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Emergence of the natural history of Myhre syndrome: 47 patients evaluated in the Massachusetts General Hospital Myhre Syndrome Clinic (2016–2023) von Lin, Angela E., Scimone, Eleanor R., Thom, Robyn P., Balaguru, Duraisamy, Kinane, T. Bernard, Moschovis, Peter P., Cohen, Michael S., Tan, Weizhen, Hague, Cole D., Dannheim, Katelyn, Levitsky, Lynne L., Lilly, Evelyn, DiGiacomo, Daniel V., Masse, Kara M., Kadzielski, Sarah M., Zar‐Kessler, Claire A., Ginns, Leo C., Neumeyer, Ann M., Colvin, Mary K., Elder, Jack S., Learn, Christopher P., Mou, Hongmei, Weagle, Kathryn M., Buch, Karen A., Butler, William E., Alhadid, Kenda, Musolino, Patricia L., Sultana, Sadia, Bandyopadhyay, Dhrubajyoti, Rapalino, Otto, Peacock, Zachary S., Chou, Elizabeth L., Heidary, Gena, Dorfman, Aaron T., Morris, Shaine A., Bergin, James D., Rayment, Jonathan H., Schimmenti, Lisa A., Lindsay, Mark E., Acosta, Luisa Paredes, Bassetti, Jennifer A., Bowdin, Sarah, Bress, Joy A., Camarda, Joseph A., Chiu, Joanne S., Corrales, C. Eduardo, Costain, Gregory, Dinulos, Mary Beth P., Devanagondi, Rajiv, Doherty, Emily S., Dykes, John, Duhaime, Ann‐Christine, English, Robert F., Fieg, Elizabeth, Friedman, Nora D. B., Garabedian, Carl P., Glowacki, Samantha, Gottlieb, Barbara R., Griffin, Mary Hope, Hayes, Frances J., Hicks, Stephanie R., Hinze, Alicia M., Jason, Brigette A., Krier, Joel, Lindgren, Kristen, Lyons, Michael, Majid, Adnan, Mannem, Hannah C., McDonald, Marie, Misra, Vinod, Morgan, Amy, Nath, Barbara J., Ploutz, Michele, Prijoles, Eloise J., Pulsifer, Margaret B., Quesnel, Alicia M., Rajabi, Farrah, Rohanizadegan, Mersedeh, Rosales, Ana Maria, Rothermel, Holly, Schussler, Edith, Sellars, Elizabeth A., Shieh, Joseph, Sherrill, Stephanie, Taska‐Tench, Heidi, Thompson, Matthew, Tiller, George E., Vallee, Stephanie E., Viskochil, David, Ware, Stephanie, Whooten, Rachel C., Yang, Samuel, Zackai, Elaine H., Zakaria, Dala

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Syndromic disorders caused by gain-of-function variants in KCNH1, KCNK4, and KCNN3-a subgroup of K+ channelopathies von Gripp, Karen W, Smithson, Sarah F, Scurr, Ingrid J, Baptista, Julia, Majumdar, Anirban, Pierre, Germaine, Williams, Maggie, Henderson, Lindsay B, Wentzensen, Ingrid M, McLaughlin, Heather, Leeuwen, Lisette, Simon, Marleen E H, van Binsbergen, Ellen, Dinulos, Mary Beth P, Kaplan, Julie D, McRae, Anne, Superti-Furga, Andrea, Good, Jean-Marc, Kutsche, Kerstin

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Neuroimaging findings in Mowat–Wilson syndrome: a study of 54 patients von Garavelli, Livia, Ivanovski, Ivan, Caraffi, Stefano Giuseppe, Santodirocco, Daniela, Pollazzon, Marzia, Cordelli, Duccio Maria, Abdalla, Ebtesam, Accorsi, Patrizia, Adam, Margaret P., Baldo, Chiara, Bayat, Allan, Belligni, Elga, Bonvicini, Federico, Breckpot, Jeroen, Callewaert, Bert, Cocchi, Guido, Cuturilo, Goran, Devriendt, Koenraad, Dinulos, Mary Beth, Djuric, Olivera, Epifanio, Roberta, Faravelli, Francesca, Formisano, Debora, Giordano, Lucio, Grasso, Marina, Grønborg, Sabine, Iodice, Alessandro, Iughetti, Lorenzo, Lacombe, Didier, Maggi, Massimo, Malbora, Baris, Mammi, Isabella, Moutton, Sebastien, Møller, Rikke, Muschke, Petra, Napoli, Manuela, Pantaleoni, Chiara, Pascarella, Rosario, Pellicciari, Alessandro, Poch-Olive, Maria Luisa, Raviglione, Federico, Rivieri, Francesca, Russo, Carmela, Savasta, Salvatore, Scarano, Gioacchino, Selicorni, Angelo, Silengo, Margherita, Sorge, Giovanni, Tarani, Luigi, Tone, Luis Gonzaga, Toutain, Annick, Trimouille, Aurelien, Valera, Elvis Terci, Vergano, Samantha Schrier, Zanotta, Nicoletta, Zollino, Marcella, Dobyns, William B, Paciorkowski, Alex R

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Janus-faced EPHB4-associated disorders: novel pathogenic variants and unreported intrafamilial overlapping phenotypes von Martin-Almedina, Silvia, Ogmen, Kazim, Sackey, Ege, Grigoriadis, Dionysios, Karapouliou, Christina, Nadarajah, Noeline, Ebbing, Cathrine, Lord, Jenny, Mellis, Rhiannon, Kortuem, Fanny, Dinulos, Mary Beth, Polun, Cassandra, Bale, Sherri, Atton, Giles, Robinson, Alexandra, Reigstad, Hallvard, Houge, Gunnar, von der Wense, Axel, Becker, Wolf-Henning, Jeffery, Steve, Mortimer, Peter S., Gordon, Kristiana, Josephs, Katherine S., Robart, Sarah, Kilby, Mark D., Vallee, Stephanie, Gorski, Jerome L., Hempel, Maja, Berland, Siren, Mansour, Sahar, Ostergaard, Pia

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Response to Biesecker et al von Biesecker, Leslie G., Adam, Margaret P., Alkuraya, Fowzan S., Amemiya, Anne R., Bamshad, Michael J., Beck, Anita E., Bennett, James T., Bird, Lynne M., Carey, John C., Chung, Brian, Clark, Robin D., Cox, Timothy C., Curry, Cynthia, Dinulos, Mary Beth Palko, Dobyns, William B., Giampietro, Philip F., Girisha, Katta M., Glass, Ian A., Graham, John M., Gripp, Karen W., Haldeman-Englert, Chad R., Hall, Bryan D., Innes, A. Micheil, Kalish, Jennifer M., Keppler-Noreuil, Kim M., Kosaki, Kenjiro, Kozel, Beth A., Mirzaa, Ghayda M., Mulvihill, John J., Nowaczyk, Malgorzata J. M., Pagon, Roberta A., Retterer, Kyle, Rope, Alan F., Sanchez-Lara, Pedro A., Seaver, Laurie H., Shieh, Joseph T., Slavotinek, Anne M., Sobering, Andrew K., Stevens, Cathy A., Stevenson, David A., Tan, Tiong Yang, Tan, Wen-Hann, Tsai, Anne C., Weaver, David D., Williams, Marc S., Zackai, Elaine, Zarate, Yuri A.

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Janus-faced EPHB4-associated disorders: novel pathogenic variants and unreported intrafamilial overlapping phenotypes (Apr, 10.1038/s41436-021-01136-7, 2021) von Martin-Almedina, Silvia, Ogmen, Kazim, Sackey, Ege, Grigoriadis, Dionysios, Karapouliou, Christina, Nadarajah, Noeline, Ebbing, Cathrine, Lord, Jenny, Mellis, Rhiannon, Kortuem, Fanny, Dinulos, Mary Beth, Polun, Cassandra, Bale, Sherri, Atton, Giles, Robinson, Alexandra, Reigstad, Hallvard, Houge, Gunnar, von der Wense, Axel, Becker, Wolf-Henning, Jeffery, Steve, Mortimer, Peter S., Gordon, Kristiana, Josephs, Katherine S., Robart, Sarah, Kilby, Mark D., Vallee, Stephanie, Gorski, Jerome L., Hempel, Maja, Berland, Siren, Mansour, Sahar, Ostergaard, Pia

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