Limitations of exome sequencing in detecting rare and undiagnosed diseases
Burdick, Kendall J., Cogan, Joy D., Rives, Lynette C., Robertson, Amy K., Koziura, Mary E., Brokamp, Elly, Duncan, Laura, Hannig, Vickie, Pfotenhauer, Jean, Vanzo, Rena, Paul, Michael S., Bican, Anna, Morgan, Thomas, Duis, Jessica, Newman, John H., Hamid, Rizwan, Phillips, John A.
Published in American journal of medical genetics. Part A (01.06.2020)
Published in American journal of medical genetics. Part A (01.06.2020)
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Journal Article
Phenotypic heterogeneity of ZMPSTE24 deficiency
Cassini, Thomas A., Robertson, Amy K., Bican, Anna G., Cogan, Joy D., Hannig, Vickie L., Newman, John H., Hamid, Rizwan, Phillips, John A.
Published in American journal of medical genetics. Part A (01.05.2018)
Published in American journal of medical genetics. Part A (01.05.2018)
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Journal Article
Familial PFAPA syndrome in childhood with evolution to febrile urticaria/angioedema after puberty
Stone, Cosby A., Manthiram, Kalpana, Park, Yong H., Blaske, Ashley L., Kroop, Susan, Nickels, Andrew S., Komarow, Hirsh D., Ombrello, Amanda, Chae, JaeJin, Kastner, David, Robertson, Amy K., Newman, John, Phillips, John A., Hamid, Rizwan
Published in Journal of allergy and clinical immunology (01.02.2018)
Published in Journal of allergy and clinical immunology (01.02.2018)
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MARRVEL: Integration of Human and Model Organism Genetic Resources to Facilitate Functional Annotation of the Human Genome
Wan, Ying-Wooi, Wangler, Michael F., Yamamoto, Shinya, Chao, Hsiao-Tuan, Mohr, Stephanie E., Adams, Christopher J., Allard, Patrick, Azamian, Mashid S., Bacino, Carlos A., Balasubramanyam, Ashok, Barseghyan, Hayk, Beggs, Alan H., Bellen, Hugo J., Bernstein, Jonathan A., Birch, Camille L., Briere, Lauren C., Burke, Elizabeth A., Burrage, Lindsay C., Chao, Katherine R., Clark, Gary D., Cogan, Joy D., Cooper, Cynthia M., Craigen, William J., Dell’Angelica, Esteban C., Donnell-Fink, Laurel A., Draper, David D., Dries, Annika M., Emrick, Lisa T., Goheen, Mitchell, Golas, Gretchen A., Goldstein, David B., Gordon, Mary G., Gourdine, Jean-Philippe F., Graham, Brett H., Groden, Catherine A., Hackbarth, Mary E., Hamid, Rizwan, Hardee, Isabel, Holm, Ingrid A., Howerton, Ellen M., Jacob, Howard J., Johnston, Jean M., Koeller, David M., Kohler, Jennefer N., Krier, Joel B., Kyle, Jennifer E., Lalani, Seema R., Latham, Lea, Latour, Yvonne L., Lee, Paul R., Levy, Shawn E., Liebendorfer, Adam P., Loomis, Carson R., Maas, Richard L., MacRae, Calum A., Manolio, Teri A., McConkie-Rosell, Allyn, McCray, Alexa T., Moretti, Paolo M., Mulvihill, John J., Murphy, Jennifer L., Muzny, Donna M., Nehrebecky, Michele E., Newberry, J. Scott, Nicholas, Sarah K., Novacic, Donna, Orange, Jordan S., Pena, Loren D.M., Posey, Jennifer E., Potocki, Lorraine, Ramoni, Rachel B., Robertson, Amy K., Rodan, Lance H., Schoch, Kelly, Scott, Daryl A., Sharma, Prashant, Silverman, Edwin K., Soldatos, Ariane G., Splinter, Kimberly, Stoler, Joan M., Strong, Kimberly A., Sullivan, Jennifer A., Sweetser, David A., Thomas, Sara P., Tifft, Cynthia J., Tolman, Nathanial J., Toro, Camilo, Tran, Alyssa A., Vilain, Eric, Wahl, Colleen E., Walley, Nicole M., Webb-Robertson, Bobbie-Jo M., Weech, Alec A., Westerfield, Monte, Wolfe, Lynne A., Yamamoto, Shinya, Yang, Yaping, Zornio, Patricia A., Perrimon, Norbert, Bellen, Hugo J.
Published in American journal of human genetics (01.06.2017)
Published in American journal of human genetics (01.06.2017)
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Journal Article
Model Organisms Facilitate Rare Disease Diagnosis and Therapeutic Research
Wangler, Michael F, Yamamoto, Shinya, Chao, Hsiao-Tuan, Posey, Jennifer E, Westerfield, Monte, Postlethwait, John, Hieter, Philip, Boycott, Kym M, Campeau, Philippe M, Bellen, Hugo J
Published in Genetics (Austin) (01.09.2017)
Published in Genetics (Austin) (01.09.2017)
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Journal Article
The Undiagnosed Diseases Network: Accelerating Discovery about Health and Disease
Ramoni, Rachel B., Mulvihill, John J., Adams, David R., Allard, Patrick, Ashley, Euan A., Gahl, William A., Loscalzo, Joseph, Adams, Christopher J., Alejandro, Mercedes E., Allard, Patrick, Ashley, Euan A., Azamian, Mashid S., Balasubramanyam, Ashok, Beggs, Alan H., Bellen, Hugo J., Bernstein, Jonathan A., Bick, David P., Birch, Camille L., Boone, Braden E., Briere, Lauren C., Brush, Matthew, Cogan, Joy D., Craigen, William J., Davids, Mariska, Dayal, Jyoti G., Dhar, Shweta U., Dipple, Katrina M., Dorrani, Naghmeh, Dorset, Daniel C., Eckstein, David J., Estwick, Tyra, Godfrey, Rena A., Goheen, Mitchell, Goldstein, David B., Gordon, Mary “Gracie” G., Gourdine, Jean-Philippe F., Haendel, Melissa, Hamid, Rizwan, Handley, Lori H., Hardee, Isabel, Holm, Ingrid A., Howerton, Ellen M., Jacob, Howard J., Jones, Angela L., Koehler, Alanna E., Kohler, Jennefer N., Krasnewich, Donna M., Kyle, Jennifer E., Latham, Lea, Lau, C. Christopher, Lazar, Jozef, Lee, Hane, Lee, Paul R., Levy, Shawn E., Levy, Denise J., Lewis, Richard A., Liebendorder, Adam P., Loomis, Carson R., Loscalzo, Joseph, Maas, Richard L., MacRae, Calum A., Manolio, Teri A., Markello, Thomas C., Mazur, Paul, McConkie-Rosell, Allyn, Metz, Thomas O., Might, Matthew, Moretti, Paolo M., Murphy, Jennifer L., Muzny, Donna M., Nehrebecky, Michele E., Nelson, Stan F., Newman, John H., Nicholas, Sarah K., Palmer, Christina G.S., Phillips, John A., Postlethwait, John H., Rosenfeld, Jill A., Schaffer, Katherine E., Schroeder, Molly C., Scott, Daryl A., Shashi, Vandana, Silverman, Edwin K., Sinsheimer, Janet S., Spillmann, Rebecca C., Stoler, Joan M., Stong, Nicholas, Sullivan, Jennifer A., Tolman, Nathanial J., Tran, Alyssa A., Valivullah, Zaheer M., Waggott, Daryl M., Walsh, Chris A., Wangler, Michael F., Warburton, Mike, Ward, Patricia A., Waters, Katrina M., Wheeler, Matthew T., Yu, Guoyun, Wise, Anastasia L.
Published in American journal of human genetics (02.02.2017)
Published in American journal of human genetics (02.02.2017)
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Journal Article
Lysosomal Storage and Albinism Due to Effects of a De Novo CLCN7 Variant on Lysosomal Acidification
Becerril, Alissa, Larson, Austin, Zerfas, Patricia M., Acosta, Maria T., Agrawal, Pankaj, Alejandro, Mercedes E., Andrews, Ashley, Bacino, Carlos A., Bademci, Guney, Baker, Eva, Baldridge, Dustin, Bale, Jim, Barbouth, Deborah, Batzli, Gabriel F., Bayrak-Toydemir, Pinar, Bernstein, Jonathan A., Birch, Camille L., Bivona, Stephanie, Bohnsack, John, Bonnenmann, Carsten, Bostwick, Bret L., Brokamp, Elly, Burrage, Lindsay C., Carey, John, Clark, Gary D., Cope, Heidi, Dasari, Surendra, Dayal, Jyoti G., Dorset, Daniel C., Eng, Christine M., Esteves, Cecilia, Fresard, Laure, Goldman, Alica M., Goldstein, David B., Groden, Catherine A., Haendel, Melissa, Hayes, Nichole, Holm, Ingrid A., Jiang, Yong-hui, Johnston, Jean M., Jones, Angela L., Kohane, Isaac S., Krakow, Deborah, Krasnewich, Donna M., Korrick, Susan, Krier, Joel B., Lalani, Seema R., Lam, Byron, Lazar, Jozef, Levy, Shawn E., Liu, Xue Zhong, Malicdan, May Christine V., Mamounas, Laura A., Markello, Thomas C., Marom, Ronit, Martínez-Agosto, Julian A., McCormack, Colleen E., McCray, Alexa T., Might, Matthew, Morava-Kozicz, Eva, Murdock, David R., Nath, Avi, Nelson, Stan F., Newman, John H., Orengo, James P., Pace, Laura, Papp, Jeanette C., Parker, Neil H., Potocki, Lorraine, Raja, Archana N., Reuter, Chloe M., Rives, Lynette, Rowley, Robb K., Sampson, Jacinda B., Saporta, Mario, Schedl, Timothy, Shields, Kathleen, Signer, Rebecca, Sillari, Catherine H., Sisco, Kathy, Spillmann, Rebecca C., Stoler, Joan M., Stong, Nicholas, Sullivan, Jennifer A., Tekin, Mustafa, Thorson, Willa, Tran, Alyssa A., Wahl, Colleen E., Wan, Jijun, Wang, Lee-kai, Wangler, Michael F., Westerfield, Monte, Wheeler, Matthew T., Wolfe, Lynne A., Woods, Jeremy D., Worthey, Elizabeth A., Yamamoto, Shinya, Zuchner, Stephan, Day-Salvatore, Debra L., Mindell, Joseph A.
Published in American journal of human genetics (06.06.2019)
Published in American journal of human genetics (06.06.2019)
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Journal Article
Biallelic Mutations in ATP5F1D, which Encodes a Subunit of ATP Synthase, Cause a Metabolic Disorder
Yoon, Wan Hee, Jangam, Sharayu, Davidson, Jean M., Grove, Megan E., Kohler, Jennefer N., Holmes, Matthew, Zhao, Chunli, Contrepois, Kévin, Heyman, Heino M., Webb-Robertson, Bobbie-Jo M., Alejandro, Mercedes E., Allard, Patrick, Balasubramanyam, Ashok, Barseghyan, Hayk, Bican, Anna, Birch, Camille L., Bostwick, Bret L., Briere, Lauren C., Brown, Donna M., Brush, Matthew, Burke, Elizabeth A., Burrage, Lindsay C., Cooper, Cynthia M., Cope, Heidi, Craigen, William J., D’Souza, Precilla, Dayal, Jyoti G., Dell’Angelica, Esteban C., Dorset, Daniel C., Draper, David D., Eckstein, David J., Emrick, Lisa T., Esteves, Cecilia, Estwick, Tyra, Ferreira, Carlos, Glanton, Emily, Godfrey, Rena A., Goldstein, David B., Gould, Sarah E., Gourdine, Jean-Philippe F., Hanchard, Neil A., Herzog, Matthew R., Hom, Jason, Howerton, Ellen M., Huang, Yong, Jacob, Howard J., Jiang, Yong-hui, Johnston, Jean M., Jones, Angela L., Kohane, Isaac S., Krier, Joel B., Lazar, Jozef, Lee, Hane, Levy, Shawn E., Lincoln, Sharyn A., Loo, Sandra K., Loscalzo, Joseph, Maas, Richard L., MacRae, Calum A., Majcherska, Marta M., Mamounas, Laura A., Manolio, Teri A., Markello, Thomas C., Marom, Ronit, May, Thomas, McConkie-Rosell, Allyn, McCray, Alexa T., Moretti, Paolo M., Novacic, Donna, Orange, Jordan S., Palmer, Christina G.S., Potocki, Lorraine, Pusey, Barbara N., Robertson, Amy K., Rodan, Lance H., Rosenfeld, Jill A., Samson, Susan L., Schoch, Kelly, Schroeder, Molly C., Shashi, Vandana, Silverman, Edwin K., Sinsheimer, Janet S., Spillmann, Rebecca C., Stong, Nicholas, Tifft, Cynthia J., Tran, Alyssa A., Valivullah, Zaheer M., Ward, Patricia A., Yamamoto, Shinya, Snyder, Michael, Merker, Jason D., Fisher, Paul G., Mayr, Johannes A., Morris, Andrew A., Schelley, Susan, Friederich, Marisa W., Yamamoto, Shinya, Wangler, Michael F., Taylor, Robert W., Bernstein, Jonathan A.
Published in American journal of human genetics (01.03.2018)
Published in American journal of human genetics (01.03.2018)
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Journal Article
Looking beyond the exome: a phenotype-first approach to molecular diagnostic resolution in rare and undiagnosed diseases
Pena, Loren D M, Jiang, Yong-Hui, Schoch, Kelly, Spillmann, Rebecca C, Walley, Nicole, Stong, Nicholas, Rapisardo Horn, Sarah, Sullivan, Jennifer A, McConkie-Rosell, Allyn, Kansagra, Sujay, Smith, Edward C, El-Dairi, Mays, Bellet, Jane, Keels, Martha Ann, Jasien, Joan, Kranz, Peter G, Noel, Richard, Nagaraj, Shashi K, Lark, Robert K, Wechsler, Daniel S G, del Gaudio, Daniela, Leung, Marco L, Hendon, Laura G, Parker, Collette C, Jones, Kelly L, Goldstein, David B, Shashi, Vandana
Published in Genetics in medicine (01.04.2018)
Published in Genetics in medicine (01.04.2018)
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A Recurrent De Novo Variant in NACC1 Causes a Syndrome Characterized by Infantile Epilepsy, Cataracts, and Profound Developmental Delay
Schoch, Kelly, Meng, Linyan, Szelinger, Szabolcs, Liston, Eriskay, Scaglia, Fernando, Rosenfeld, Jill A., Deardorff, Matthew A., Akdemir, Zeynep Coban, Jasien, Joan, Kansagra, Sujay, Freedman, Sharon, Bale, Sherri, Nelson, Stanley F., Lee, Hane, Dorrani, Naghmeh, Nelson, Stanley F., Lee, Hane, Vilain, Eric, Kantarci, Sibel, Dorrani, Naghmeh, Mullegama, Sureni, Kang, Sung-Hae, Bacino, Carlos A., Balasubramanyam, Ashok, Craigen, William J., Dhar, Shweta U., Hanchard, Neil A., Lee, Brendan H., Lewis, Richard A., Moretti, Paolo M., Orange, Jordan S., Potocki, Lorraine, Rosenfeld, Jill A., Wangler, Michael F., Yamamoto, Shinya, Muzny, Donna M., Yang, Yaping, Gropman, Andrea L., Goldstein, David B., Schoch, Kelly, Walley, Nicole M., Beggs, Alan H., Krier, Joel B., Loscalzo, Joseph, Walsh, Chris A., Esteves, Cecilia, Holm, Ingrid A., Kohane, Isaac S., Mazur, Paul, McCray, Alexa T., Might, Matthew, Splinter, Kimberly, Brown, Donna M., Dorset, Dan C., Jones, Angela L., Lazar, Jozef, Newberry, J. Scott, Schroeder, Molly C., Strong, Kimberly A., Dayal, Jyoti G., Loomis, Carson R., Mulvihill, John J., Wise, Anastasia L., Haendel, Melissa, Kyle, Jennifer E., Webb-Robertson, Bobbie-Jo M., Kohler, Jennefer N., Herzog, Matthew R., Nelson, Stan F., Palmer, Christina G.S., Papp, Jeanette C., Adams, Christopher J., Burke, Elizabeth A., Chao, Katherine R., Davids, Mariska, Frost, Kate, Gartner, Valerie, Gordon, Mary “Gracie” G., Groden, Catherine A., Hardee, Isabel, Johnston, Jean M., Latham, Lea, Lau, C. Christopher, Maduro, Valerie V., Pusey, Barbara N., Sadozai, Sarah, Schaffer, Katherine E., Sharma, Prashant, Thomas, Sara P., Valivullah, Zaheer M., Wahl, Colleen E., Weech, Alec A., Westerfield, Monte, Bican, Anna, Phillips, John A., Robertson, Amy K., Xiao, Rui, Posey, Jennifer E., Wangler, Michael F., Shashi, Vandana
Published in American journal of human genetics (02.02.2017)
Published in American journal of human genetics (02.02.2017)
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