Zoekresultaten - Rope, Alan F.

Clinical and Molecular Aspects of an Informative Family with Neurofibromatosis Type 1 and Noonan Phenotype door Stevenson, David A., Viskochil, David H., Rope, Alan F., Carey, John C.

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Seizures and Cardiomyopathy in a Patient with Pallister-Killian Syndrome due to Hexasomy 12p Mosaicism door Toydemir, Reha M., Panza, Emanuele, Longhurst, Maria C., South, Sarah T., Rope, Alan F.

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Characterization of large genomic deletions in the FBN1 gene using multiplex ligation-dependent probe amplification door Furtado, Larissa V, Wooderchak-Donahue, Whitney, Rope, Alan F, Yetman, Angela T, Lewis, Tracey, Plant, Parker, Bayrak-Toydemir, Pinar

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Neural Tube Defects and Atypical Deletion on 22q11.2 door Leoni, Chiara, Stevenson, David A., Geiersbach, Katherine B., Paxton, Christian N., Krock, Bryan L., Mao, Rong, Rope, Alan F.

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A direct comparison of next generation sequencing enrichment methods using an aortopathy gene panel- clinical diagnostics perspective door Wooderchak-Donahue, Whitney L, O’Fallon, Brendan, Furtado, Larissa V, Durtschi, Jacob D, Plant, Parker, Ridge, Perry G, Rope, Alan F, Yetman, Angela T, Bayrak-Toydemir, Pinar

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Patient and provider perspectives on adherence to and care coordination of lynch syndrome surveillance recommendations: findings from qualitative interviews door Schneider, Jennifer L., Goddard, Katrina A. B., Muessig, Kristin R., Davis, James V., Rope, Alan F., Hunter, Jessica E., Peterson, Susan K., Acheson, Louise S., Syngal, Sapna, Wiesner, Georgia L., Reiss, Jacob A.

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7q11.23 Duplication Syndrome: Physical Characteristics and Natural History door Morris, Colleen A., Mervis, Carolyn B., Paciorkowski, Alex P., Abdul-Rahman, Omar, Dugan, Sarah L., Rope, Alan F., Bader, Patricia, Hendon, Laura G., Velleman, Shelley L., Klein-Tasman, Bonita P., Osborne, Lucy R.

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Development and early implementation of an Accessible, Relational, Inclusive and Actionable approach to genetic counseling: the ARIA model door Riddle, Leslie, Amendola, Laura M., Gilmore, Marian J., Guerra, Claudia, Biesecker, Barbara, Kauffman, Tia L., Anderson, Katherine, Rope, Alan F., Leo, Michael C., Caruncho, Mikaella, Jarvik, Gail P., Wilfond, Benjamin, Goddard, Katrina A. B., Joseph, Galen

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Genome sequencing and carrier testing: decisions on categorization and whether to disclose results of carrier testing door Himes, Patricia, Kauffman, Tia L., Muessig, Kristin R., Amendola, Laura M., Berg, Jonathan S., Dorschner, Michael O., Gilmore, Marian, Nickerson, Deborah A., Reiss, Jacob A., Richards, C. Sue, Rope, Alan F., Simpson, Dana K., Wilfond, Benjamin S., Jarvik, Gail P., Goddard, Katrina A.B.

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Universal screening for Lynch syndrome among patients with colorectal cancer: Patient perspectives on screening and sharing results with at-risk relatives door Hunter, Jessica Ezzell, Arnold, Kathleen A., Cook, Jennifer E., Zepp, Jamilyn, Gilmore, Marian J., Rope, Alan F., Davis, James V., Bergen, Kellene M., Esterberg, Elizabeth, Muessig, Kristin R., Peterson, Susan K., Syngal, Sapna, Acheson, Louise, Wiesner, Georgia, Reiss, Jacob, Goddard, Katrina A.B.

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Feasibility of a Traceback Approach for Using Pathology Specimens to Facilitate Genetic Testing in the Genetic Risk Analysis in Ovarian Cancer (GRACE) Study Protocol door Kauffman, Tia L., Prado, Yolanda K., Reyes, Ana A., Zepp, Jamilyn M., Sawyer, Jennifer, White, Larissa Lee, Martucci, Jessica, Salas, Suzanne Bianca, Vertrees, Sarah, Rope, Alan F., Weinmann, Sheila, Henrikson, Nora B., Lee, Sandra Soo-Jin, Feigelson, Heather Spencer, Hunter, Jessica Ezzell

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Adults with genetic syndromes and cardiovascular abnormalities: Clinical history and management door Lin, Angela E., Basson, Craig T., Goldmuntz, Elizabeth, Magoulas, Pilar L., McDermott, Deborah A., McDonald-McGinn, Donna M., McPherson, Elspeth, Morris, Colleen A., Noonan, Jacqueline, Nowak, Catherine, Pierpont, Mary Ella, Pyeritz, Reed E., Rope, Alan F., Zackai, Elaine, Pober, Barbara R.

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Patients’ Ratings of Genetic Conditions Validate a Taxonomy to Simplify Decisions about Preconception Carrier Screening via Genome Sequencing door Leo, Michael C., McMullen, Carmit, Wilfond, Benjamin S., Lynch, Frances, Reiss, Jacob A., Gilmore, Marian J., Himes, Patricia, Kauffman, Tia L., Davis, James V., Jarvik, Gail P., Berg, Jonathan, Harding, Cary, Kennedy, Kathleen, Kostiner-Simpson, Dana, Quigley, Denise, Richards, C. Sue, Rope, Alan F., Goddard, Katrina A.B.

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A case for expanding carrier testing to include actionable X‐linked disorders door Rope, Alan F., Kauffman, Tia L., Himes, Pat, Amendola, Laura M., Punj, Sumit, Akkari, Yassmine, Potter, Amiee, Davis, James V., Schneider, Jennifer L., Reiss, Jacob A., Gilmore, Mari J., McMullen, Carmit K., Nickerson, Deborah A., Richards, C. Sue, Jarvik, Gail P., Wilfond, Benjamin S., Goddard, Katrina A. B.

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Recommended care and care adherence following a diagnosis of Lynch syndrome: a mixed-methods study door Mittendorf, Kathleen F., Hunter, Jessica Ezzell, Schneider, Jennifer L., Shuster, Elizabeth, Rope, Alan F., Zepp, Jamilyn, Gilmore, Marian J., Muessig, Kristin R., Davis, James V., Kauffman, Tia L., Bergen, Kellene M., Wiesner, Georgia L., Acheson, Louise S., Peterson, Susan K., Syngal, Sapna, Reiss, Jacob A., Goddard, Katrina A. B.

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Implementation of a Systematic Tumor Screening Program for Lynch Syndrome in an Integrated Health Care Setting door Clarke, Elizabeth V., Muessig, Kristin R., Zepp, Jamilyn, Hunter, Jessica E., Syngal, Sapna, Acheson, Louise S., Wiesner, Georgia L., Peterson, Susan K., Bergen, Kellene M., Shuster, Elizabeth, Davis, James V., Schneider, Jennifer L., Kauffman, Tia L., Gilmore, Marian J., Reiss, Jacob A., Rope, Alan F., Cook, Jennifer E., Goddard, Katrina A.B.

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Preconception Carrier Screening by Genome Sequencing: Results from the Clinical Laboratory door Punj, Sumit, Akkari, Yassmine, Huang, Jennifer, Yang, Fei, Creason, Allison, Pak, Christine, Potter, Amiee, Dorschner, Michael O., Nickerson, Deborah A., Robertson, Peggy D., Jarvik, Gail P., Amendola, Laura M., Schleit, Jennifer, Simpson, Dana Kostiner, Rope, Alan F., Reiss, Jacob, Kauffman, Tia, Gilmore, Marian J., Himes, Patricia, Wilfond, Benjamin, Goddard, Katrina A.B., Richards, C. Sue

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Phenotypic and biochemical analysis of an international cohort of individuals with variants in NAA10 and NAA15 door Cheng, Hanyin, Gottlieb, Leah, Marchi, Elaine, Kleyner, Robert, Bhardwaj, Puja, Rope, Alan F, Rosenheck, Sarah, Moutton, Sébastien, Philippe, Christophe, Eyaid, Wafaa, Alkuraya, Fowzan S, Toribio, Janet, Mena, Rafael, Prada, Carlos E, Stessman, Holly, Bernier, Raphael, Wermuth, Marieke, Kauffmann, Birgit, Blaumeiser, Bettina, Kooy, R Frank, Baralle, Diana, Mancini, Grazia M S, Conway, Simon J, Xia, Fan, Chen, Zhao, Meng, Linyan, Mihajlovic, Ljubisa, Marmorstein, Ronen, Lyon, Gholson J

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Phenotypic and biochemical analysis of an international cohort of individuals with variants in NAA10 and NAA15 door Cheng, Hanyin, Gottlieb, Leah, Marchi, Elaine, Kleyner, Robert, Bhardwaj, Puja, Rope, Alan F, Rosenheck, Sarah, Moutton, Sébastien, Philippe, Christophe, Eyaid, Wafaa, Alkuraya, Fowzan S, Toribio, Janet, Mena, Rafael, Prada, Carlos E, Stessman, Holly, Bernier, Raphael, Wermuth, Marieke, Kauffmann, Birgit, Blaumeiser, Bettina, Kooy, R Frank, Baralle, Diana, Mancini, Grazia M S, Conway, Simon J, Xia, Fan, Chen, Zhao, Meng, Linyan, Mihajlovic, Ljubisa, Marmorstein, Ronen, Lyon, Gholson J

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Using VAAST to Identify an X-Linked Disorder Resulting in Lethality in Male Infants Due to N-Terminal Acetyltransferase Deficiency door Rope, Alan F., Wang, Kai, Evjenth, Rune, Xing, Jinchuan, Johnston, Jennifer J., Swensen, Jeffrey J., Johnson, W. Evan, Moore, Barry, Huff, Chad D., Bird, Lynne M., Carey, John C., Opitz, John M., Stevens, Cathy A., Jiang, Tao, Schank, Christa, Fain, Heidi Deborah, Robison, Reid, Dalley, Brian, Chin, Steven, South, Sarah T., Pysher, Theodore J., Jorde, Lynn B., Hakonarson, Hakon, Lillehaug, Johan R., Biesecker, Leslie G., Yandell, Mark, Arnesen, Thomas, Lyon, Gholson J.

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