Search Results - "White, Janson J"

DVL3 Alleles Resulting in a −1 Frameshift of the Last Exon Mediate Autosomal-Dominant Robinow Syndrome by White, Janson J., Mazzeu, Juliana F., Hoischen, Alexander, Bayram, Yavuz, Withers, Marjorie, Gezdirici, Alper, Kimonis, Virginia, Steehouwer, Marloes, Jhangiani, Shalini N., Muzny, Donna M., Gibbs, Richard A., van Bon, Bregje W.M., Sutton, V. Reid, Lupski, James R., Brunner, Han G., Carvalho, Claudia M.B.

“…Robinow syndrome is a rare congenital disorder characterized by mesomelic limb shortening, genital hypoplasia, and distinctive facial features. Recent reports…”
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Rare variants in CAPN2 increase risk for isolated hypoplastic left heart syndrome by Blue, Elizabeth E., White, Janson J., Dush, Michael K., Gordon, William W., Wyatt, Brent H., White, Peter, Marvin, Colby T., Helle, Emmi, Ojala, Tiina, Priest, James R., Jenkins, Mary M., Almli, Lynn M., Reefhuis, Jennita, Pangilinan, Faith, Brody, Lawrence C., McBride, Kim L., Garg, Vidu, Shaw, Gary M., Romitti, Paul A., Nembhard, Wendy N., Browne, Marilyn L., Werler, Martha M., Kay, Denise M., Mital, Seema, Chong, Jessica X., Nascone-Yoder, Nanette M., Bamshad, Michael J.

“…Hypoplastic left heart syndrome (HLHS) is a severe congenital heart defect (CHD) characterized by hypoplasia of the left ventricle and aorta along with…”
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Identification of a RAI1-associated disease network through integration of exome sequencing, transcriptomics, and 3D genomics by Loviglio, Maria Nicla, Beck, Christine R, White, Janson J, Leleu, Marion, Harel, Tamar, Guex, Nicolas, Niknejad, Anne, Bi, Weimin, Chen, Edward S, Crespo, Isaac, Yan, Jiong, Charng, Wu-Lin, Gu, Shen, Fang, Ping, Coban-Akdemir, Zeynep, Shaw, Chad A, Jhangiani, Shalini N, Muzny, Donna M, Gibbs, Richard A, Rougemont, Jacques, Xenarios, Ioannis, Lupski, James R, Reymond, Alexandre

“…Smith-Magenis syndrome (SMS) is a developmental disability/multiple congenital anomaly disorder resulting from haploinsufficiency of RAI1. It is characterized…”
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Identifying Genes Whose Mutant Transcripts Cause Dominant Disease Traits by Potential Gain-of-Function Alleles by Coban-Akdemir, Zeynep, White, Janson J., Song, Xiaofei, Jhangiani, Shalini N., Fatih, Jawid M., Gambin, Tomasz, Bayram, Yavuz, Chinn, Ivan K., Karaca, Ender, Punetha, Jaya, Poli, Cecilia, Boerwinkle, Eric, Shaw, Chad A., Orange, Jordan S., Gibbs, Richard A., Lappalainen, Tuuli, Lupski, James R., Carvalho, Claudia M.B.

“…Premature termination codon (PTC)-bearing transcripts are often degraded by nonsense-mediated decay (NMD) resulting in loss-of-function (LoF) alleles. However,…”
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Insights into genetics, human biology and disease gleaned from family based genomic studies by Posey, Jennifer E., O’Donnell-Luria, Anne H., Chong, Jessica X., Harel, Tamar, Jhangiani, Shalini N., Coban Akdemir, Zeynep H., Buyske, Steven, Pehlivan, Davut, Carvalho, Claudia M. B., Baxter, Samantha, Sobreira, Nara, Liu, Pengfei, Wu, Nan, Rosenfeld, Jill A., Kumar, Sushant, Avramopoulos, Dimitri, White, Janson J., Doheny, Kimberly F., Witmer, P. Dane, Boehm, Corinne, Sutton, V. Reid, Muzny, Donna M., Boerwinkle, Eric, Günel, Murat, Nickerson, Deborah A., Mane, Shrikant, MacArthur, Daniel G., Gibbs, Richard A., Hamosh, Ada, Lifton, Richard P., Matise, Tara C., Rehm, Heidi L., Gerstein, Mark, Bamshad, Michael J., Valle, David, Lupski, James R.

“…Identifying genes and variants contributing to rare disease phenotypes and Mendelian conditions informs biology and medicine, yet potential phenotypic…”
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Exome Sequencing of a Primary Ovarian Insufficiency Cohort Reveals Common Molecular Etiologies for a Spectrum of Disease by Jolly, Angad, Bayram, Yavuz, Turan, Serap, Aycan, Zehra, Tos, Tulay, Abali, Zehra Yavas, Hacihamdioglu, Bulent, Coban Akdemir, Zeynep Hande, Hijazi, Hadia, Bas, Serpil, Atay, Zeynep, Guran, Tulay, Abali, Saygin, Bas, Firdevs, Darendeliler, Feyza, Colombo, Roberto, Barakat, Tahsin Stefan, Rinne, Tuula, White, Janson J, Yesil, Gozde, Gezdirici, Alper, Gulec, Elif Yilmaz, Karaca, Ender, Pehlivan, Davut, Jhangiani, Shalini N, Muzny, Donna M, Poyrazoglu, Sukran, Bereket, Abdullah, Gibbs, Richard A, Posey, Jennifer E, Lupski, James R

“…Abstract Context Primary ovarian insufficiency (POI) encompasses a spectrum of premature menopause, including both primary and secondary amenorrhea. For 75% to…”
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Paralog Studies Augment Gene Discovery: DDX and DHX Genes by Paine, Ingrid, Posey, Jennifer E., Grochowski, Christopher M., Jhangiani, Shalini N., Rosenheck, Sarah, Kleyner, Robert, Marmorale, Taylor, Yoon, Margaret, Wang, Kai, Robison, Reid, Cappuccio, Gerarda, Pinelli, Michele, Magli, Adriano, Coban Akdemir, Zeynep, Hui, Joannie, Yeung, Wai Lan, Wong, Bibiana K.Y., Ortega, Lucia, Bekheirnia, Mir Reza, Bierhals, Tatjana, Hempel, Maja, Johannsen, Jessika, Santer, René, Aktas, Dilek, Alikasifoglu, Mehmet, Bozdogan, Sevcan, Aydin, Hatip, Karaca, Ender, Bayram, Yavuz, Ityel, Hadas, Dorschner, Michael, White, Janson J., Wilichowski, Ekkehard, Wortmann, Saskia B., Casella, Erasmo B., Kitajima, Joao Paulo, Kok, Fernando, Monteiro, Fabiola, Muzny, Donna M., Bamshad, Michael, Gibbs, Richard A., Sutton, V. Reid, Van Esch, Hilde, Brunetti-Pierri, Nicola, Hildebrandt, Friedhelm, Brautbar, Ariel, Van den Veyver, Ignatia B., Glass, Ian, Lessel, Davor, Lyon, Gholson J., Lupski, James R.

“…Members of a paralogous gene family in which variation in one gene is known to cause disease are eight times more likely to also be associated with human…”
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WNT Signaling Perturbations Underlie the Genetic Heterogeneity of Robinow Syndrome by White, Janson J., Mazzeu, Juliana F., Coban-Akdemir, Zeynep, Bayram, Yavuz, Bahrambeigi, Vahid, Hoischen, Alexander, van Bon, Bregje W.M., Gezdirici, Alper, Gulec, Elif Yilmaz, Ramond, Francis, Touraine, Renaud, Thevenon, Julien, Shinawi, Marwan, Beaver, Erin, Heeley, Jennifer, Hoover-Fong, Julie, Durmaz, Ceren D., Karabulut, Halil Gurhan, Marzioglu-Ozdemir, Ebru, Cayir, Atilla, Duz, Mehmet B., Seven, Mehmet, Price, Susan, Ferreira, Barbara Merfort, Vianna-Morgante, Angela M., Ellard, Sian, Parrish, Andrew, Stals, Karen, Flores-Daboub, Josue, Jhangiani, Shalini N., Gibbs, Richard A., Brunner, Han G., Sutton, V. Reid, Lupski, James R., Carvalho, Claudia M.B.

“…Locus heterogeneity characterizes a variety of skeletal dysplasias often due to interacting or overlapping signaling pathways. Robinow syndrome is a skeletal…”
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REST Final-Exon-Truncating Mutations Cause Hereditary Gingival Fibromatosis by Bayram, Yavuz, White, Janson J., Elcioglu, Nursel, Cho, Megan T., Zadeh, Neda, Gedikbasi, Asuman, Palanduz, Sukru, Ozturk, Sukru, Cefle, Kivanc, Kasapcopur, Ozgur, Coban Akdemir, Zeynep, Pehlivan, Davut, Begtrup, Amber, Carvalho, Claudia M.B., Paine, Ingrid Sophie, Mentes, Ali, Bektas-Kayhan, Kivanc, Karaca, Ender, Jhangiani, Shalini N., Muzny, Donna M., Gibbs, Richard A., Lupski, James R.

“…Hereditary gingival fibromatosis (HGF) is the most common genetic form of gingival fibromatosis that develops as a slowly progressive, benign, localized or…”
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CHRNA7 copy number gains are enriched in adolescents with major depressive and anxiety disorders by Gillentine, Madelyn A., Lozoya, Ricardo, Yin, Jiani, Grochowski, Christopher M., White, Janson J., Schaaf, Christian P., Calarge, Chadi A.

“…•A large, clinically assessed cohort of adolescents with major depressive disorder and/or anxiety disorders were assessed for changes in copy number of the…”
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Further delineation of van den Ende‐Gupta syndrome: Genetic heterogeneity and overlap with congenital heart defects and skeletal malformations syndrome by Hildebrandt, Clara C., Patel, Nisha, Graham, John M., Bamshad, Michael, Nickerson, Deborah A., White, Janson J., Marvin, Colby T., Miller, Danny E., Grand, Katheryn L., Sanchez‐Lara, Pedro A., Schweitzer, Daniela, Al‐Zaidan, Hamad I., Al Masseri, Zainab, Alkuraya, Fowzan S., Lin, Angela E.

“…Van den Ende‐Gupta syndrome (VDEGS) is a rare autosomal recessive condition characterized by distinctive facial and skeletal features, and in most affected…”
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De novo missense variants in PPP1CB are associated with intellectual disability and congenital heart disease by Ma, Lijiang, Bayram, Yavuz, McLaughlin, Heather M., Cho, Megan T., Krokosky, Alyson, Turner, Clesson E., Lindstrom, Kristin, Bupp, Caleb P., Mayberry, Katey, Mu, Weiyi, Bodurtha, Joann, Weinstein, Veronique, Zadeh, Neda, Alcaraz, Wendy, Powis, Zöe, Shao, Yunru, Scott, Daryl A., Lewis, Andrea M., White, Janson J., Jhangiani, Shalani N., Gulec, Elif Yilmaz, Lalani, Seema R., Lupski, James R., Retterer, Kyle, Schnur, Rhonda E., Wentzensen, Ingrid M., Bale, Sherri, Chung, Wendy K.

“…Intellectual disabilities are genetically heterogeneous and can be associated with congenital anomalies. Using whole-exome sequencing (WES), we identified five…”
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Dual molecular diagnosis contributes to atypical Prader–Willi phenotype in monozygotic twins by Jehee, Fernanda S., de Oliveira, Valdirene T., Gurgel‐Giannetti, Juliana, Pietra, Rafaella X., Rubatino, Fernando V. M., Carobin, Natália V., Vianna, Gabrielle S., de Freitas, Mariana L., Fernandes, Karla S., Ribeiro, Beatriz S. V., Brüggenwirth, Hennie T., Ali‐Amin, Roza, White, Janson J., Akdemir, Zeynep C., Jhangiani, Shalini N., Gibbs, Richard A., Lupski, James R., Varela, Monica C., Koiffmann, Célia, Rosenberg, Carla, Carvalho, Cláudia M. B.

“…We describe monozygotic twin girls with genetic variation at two separate loci resulting in a blended phenotype of Prader–Willi syndrome and Pitt–Hopkins…”
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Exome sequencing identifies novel genes underlying primary congenital glaucoma in the National Birth Defects Prevention Study by Blue, Elizabeth E., Moore, Kristin J., North, Kari E., Desrosiers, Tania A., Carmichael, Suzan L., White, Janson J., Chong, Jessica X., Bamshad, Michael J., Jenkins, Mary M., Almli, Lynn M., Brody, Lawrence C., Freedman, Sharon F., Reefhuis, Jennita, Romitti, Paul A., Shaw, Gary M., Werler, Martha, Kay, Denise M., Browne, Marilyn L., Feldkamp, Marcia L., Finnell, Richard H., Nembhard, Wendy N., Pangilinan, Faith, Olshan, Andrew F.

“…Background Primary congenital glaucoma (PCG) affects approximately 1 in 10,000 live born infants in the United States (U.S.). PCG has a autosomal recessive…”
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Hutterite‐type cataract maps to chromosome 6p21.32‐p21.31, cosegregates with a homozygous mutation in LEMD2, and is associated with sudden cardiac death by Boone, Philip M., Yuan, Bo, Gu, Shen, Ma, Zhiwei, Gambin, Tomasz, Gonzaga‐Jauregui, Claudia, Jain, Mahim, Murdock, Todd J., White, Janson J., Jhangiani, Shalini N., Walker, Kimberly, Wang, Qiaoyan, Muzny, Donna M., Gibbs, Richard A., Hejtmancik, J. Fielding, Lupski, James R., Posey, Jennifer E., Lewis, Richard A.

“…Background Juvenile‐onset cataracts are known among the Hutterites of North America. Despite being identified over 30 years ago, this autosomal recessive…”
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Hutterite‐type cataract maps to chromosome 6p21.32‐p21.31, cosegregates with a homozygous mutation in LEMD 2 , and is associated with sudden cardiac death by Boone, Philip M., Yuan, Bo, Gu, Shen, Ma, Zhiwei, Gambin, Tomasz, Gonzaga‐Jauregui, Claudia, Jain, Mahim, Murdock, Todd J., White, Janson J., Jhangiani, Shalini N., Walker, Kimberly, Wang, Qiaoyan, Muzny, Donna M., Gibbs, Richard A., Hejtmancik, J. Fielding, Lupski, James R., Posey, Jennifer E., Lewis, Richard A.

“…Abstract Background Juvenile‐onset cataracts are known among the Hutterites of North America. Despite being identified over 30 years ago, this autosomal…”
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CHRNA7 Deletions are Enriched in Risperidone-Treated Children and Adolescents by Gillentine, Madelyn A., White, Janson J., Grochowski, Christopher M., Lupski, James R., Schaaf, Christian P., Calarge, Chadi A.

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Phenotypic and mutational spectrum of ROR2‐related Robinow syndrome by Lima, Ariadne R., Ferreira, Barbara M., Zhang, Chaofan, Jolly, Angad, Du, Haowei, White, Janson J., Dawood, Moez, Lins, Tulio C., Chiabai, Marcela A., Beusekom, Ellen, Cordoba, Mara S., Caldas Rosa, Erica C.C., Kayserili, Hulya, Kimonis, Virginia, Wu, Erica, Mellado, Cecilia, Aggarwal, Vineet, Richieri‐Costa, Antonio, Brunoni, Décio, Canó, Talyta M., Jorge, Alexander A. L., Kim, Chong A., Honjo, Rachel, Bertola, Débora R., Dandalo‐Girardi, Raissa M., Bayram, Yavuz, Gezdirici, Alper, Yilmaz‐Gulec, Elif, Gumus, Evren, Yilmaz, Gülay C., Okamoto, Nobuhiko, Ohashi, Hirofumi, Coban–Akdemir, Zeynep, Mitani, Tadahiro, Jhangiani, Shalini N., Muzny, Donna M., Regattieri, Neysa A.P., Pogue, Robert, Pereira, Rinaldo W., Otto, Paulo A., Gibbs, Richard A., Ali, Bassam R., Bokhoven, Hans, Brunner, Han G., Sutton, V. Reid, Lupski, James R., Vianna‐Morgante, Angela M., Carvalho, Claudia M. B., Mazzeu, Juliana F.

“…Robinow syndrome is characterized by a triad of craniofacial dysmorphisms, disproportionate‐limb short stature, and genital hypoplasia. A significant degree of…”
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Back Cover, Volume 43, Issue 7 by Lima, Ariadne R., Ferreira, Barbara M., Zhang, Chaofan, Jolly, Angad, Du, Haowei, White, Janson J., Dawood, Moez, Lins, Tulio C., Chiabai, Marcela A., Beusekom, Ellen, Cordoba, Mara S., Caldas Rosa, Erica C.C., Kayserili, Hulya, Kimonis, Virginia, Wu, Erica, Mellado, Cecilia, Aggarwal, Vineet, Richieri‐Costa, Antonio, Brunoni, Décio, Canó, Talyta M., Jorge, Alexander A. L., Kim, Chong A., Honjo, Rachel, Bertola, Débora R., Dandalo‐Girardi, Raissa M., Bayram, Yavuz, Gezdirici, Alper, Yilmaz‐Gulec, Elif, Gumus, Evren, Yilmaz, Gülay C., Okamoto, Nobuhiko, Ohashi, Hirofumi, Coban–Akdemir, Zeynep, Mitani, Tadahiro, Jhangiani, Shalini N., Muzny, Donna M., Regattieri, Neysa A.P., Pogue, Robert, Pereira, Rinaldo W., Otto, Paulo A., Gibbs, Richard A., Ali, Bassam R., Bokhoven, Hans, Brunner, Han G., Sutton, V. Reid, Lupski, James R., Vianna‐Morgante, Angela M., Carvalho, Claudia M. B., Mazzeu, Juliana F.

“…Back Cover: The cover image is based on the Research Article Phenotypic and mutational spectrum of ROR2-related Robinow syndrome by Juliana Forte Mazzeu de…”
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De Novo Missense Variants in PPP1CB Are Associated with Intellectual Disabilities and Congenital Heart Disease by Ma, Lijiang, Bayram, Yavuz, McLaughlin, Heather M, Cho, Megan T, Krokosky, Alyson, Turner, Clesson E, Lindstrom, Kristin, Bupp, Caleb, Mayberry, Katey, Mu, Weiyi, Bodurtha, Joann, Weinstein, Veronique, Zadeh, Neda, Alcaraz, Wendy, Powis, Zöe, Shao, Yunru, Scott, Daryl A, Lewis, Andrea M, White, Janson J, Jhangiani, Shalani N, Gulec, Elif Yilmaz, Lalani, Seema R, Lupski, James R, Retterer, Kyle, Schnur, Rhonda E, Wentzensen, Ingrid, Bale, Sherri, Chung, Wendy K

“…Intellectual disabilities are genetically heterogeneous and can be associated with congenital anomalies. Using whole-exome sequencing (WES), we identified five…”
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