Genetic counselor review of genetic test orders in a reference laboratory reduces unnecessary testing
Miller, Christine E., Krautscheid, Patti, Baldwin, Erin E., Tvrdik, Tatiana, Openshaw, Amanda S., Hart, Kim, LaGrave, Danielle
Published in American journal of medical genetics. Part A (01.05.2014)
Published in American journal of medical genetics. Part A (01.05.2014)
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BCL11A intellectual developmental disorder: defining the clinical spectrum and genotype-phenotype correlations
Peron, Angela, D'Arco, Felice, Aldinger, Kimberly A, Smith-Hicks, Constance, Zweier, Christiane, Gradek, Gyri A, Bradbury, Kimberley, Accogli, Andrea, Andersen, Erica F, Au, Ping Yee Billie, Battini, Roberta, Beleford, Daniah, Bird, Lynne M, Bouman, Arjan, Bruel, Ange-Line, Busk, Øyvind Løvold, Campeau, Philippe M, Capra, Valeria, Carlston, Colleen, Carmichael, Jenny, Chassevent, Anna, Clayton-Smith, Jill, Bamshad, Michael J, Earl, Dawn L, Faivre, Laurence, Philippe, Christophe, Ferreira, Patrick, Graul-Neumann, Luitgard, Green, Mary J, Haffner, Darrah, Haldipur, Parthiv, Hanna, Suhair, Houge, Gunnar, Jones, Wendy D, Kraus, Cornelia, Kristiansen, Birgit Elisabeth, Lespinasse, James, Low, Karen J, Lynch, Sally Ann, Maia, Sofia, Mao, Rong, Kalinauskiene, Ruta, Melver, Catherine, McDonald, Kimberly, Montgomery, Tara, Morleo, Manuela, Motter, Constance, Openshaw, Amanda S, Palumbos, Janice Cox, Parikh, Aditi Shah, Perilla-Young, Yezmin, Powell, Cynthia M, Person, Richard, Desai, Megha, Piard, Juliette, Pfundt, Rolph, Scala, Marcello, Serey-Gaut, Margaux, Shears, Deborah, Slavotinek, Anne, Suri, Mohnish, Turner, Claire, Tvrdik, Tatiana, Weiss, Karin, Wentzensen, Ingrid M, Zollino, Marcella, Hsieh, Tzung-Chien, de Vries, Bert B A, Guillemot, Francois, Dobyns, William B, Viskochil, David, Dias, Cristina
Published in European journal of human genetics : EJHG (24.10.2024)
Published in European journal of human genetics : EJHG (24.10.2024)
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Journal Article
Int22h1/Int22h2‐mediated Xq28 duplication syndrome: de novo duplications, prenatal diagnoses, and additional phenotypic features
Ballout, Rami A., Dickerson, Cheryl, Wick, Myra J., Al‐Sweel, Najla, Openshaw, Amanda S., Srivastava, Siddharth, Swanson, Lindsay C., Bramswig, Nuria C., Kuechler, Alma, Hong, Bo, Fleming, Leah R., Curry, Kathryn, Robertson, Stephen P., Andersen, Erica F., El‐Hattab, Ayman W.
Published in Human mutation (01.07.2020)
Published in Human mutation (01.07.2020)
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