Search Results - "Bhoj, Elizabeth J"

Mutations in TBCK, Encoding TBC1-Domain-Containing Kinase, Lead to a Recognizable Syndrome of Intellectual Disability and Hypotonia by Bhoj, Elizabeth J., Li, Dong, Harr, Margaret, Edvardson, Shimon, Elpeleg, Orly, Chisholm, Elizabeth, Juusola, Jane, Douglas, Ganka, Guillen Sacoto, Maria J., Siquier-Pernet, Karine, Saadi, Abdelkrim, Bole-Feysot, Christine, Nitschke, Patrick, Narravula, Alekhya, Walke, Maria, Horner, Michele B., Day-Salvatore, Debra-Lynn, Jayakar, Parul, Vergano, Samantha A. Schrier, Tarnopolsky, Mark A., Hegde, Madhuri, Colleaux, Laurence, Crino, Peter, Hakonarson, Hakon

“…Through an international multi-center collaboration, 13 individuals from nine unrelated families and affected by likely pathogenic biallelic variants in…”
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De novo variants in Myelin regulatory factor (MYRF) as candidates of a new syndrome of cardiac and urogenital anomalies by Pinz, Hailey, Pyle, Louise C., Li, Dong, Izumi, Kosuke, Skraban, Cara, Tarpinian, Jennifer, Braddock, Stephen R., Telegrafi, Aida, Monaghan, Kristin G., Zackai, Elaine, Bhoj, Elizabeth J.

“…Myelin Regulatory Factor (MYRF) is a transcription factor that has previously been associated with the control of the expression of myelin‐related genes…”
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Clinical variability of TUBB‐associated disorders: Diagnosis through reanalysis by Li, Dong, Shen, Kaitlyn M., Zackai, Elaine H., Bhoj, Elizabeth J.

“…A range of clinical findings have been associated with heterozygous mutations in the Beta Tubulin (TUBB) gene, including microcephaly, structural brain…”
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Automated Clinical Exome Reanalysis Reveals Novel Diagnoses by Baker, Samuel W., Murrell, Jill R., Nesbitt, Addie I., Pechter, Kieran B., Balciuniene, Jorune, Zhao, Xiaonan, Yu, Zhenming, Denenberg, Elizabeth H., DeChene, Elizabeth T., Wilkens, Alisha B., Bhoj, Elizabeth J., Guan, Qiaoning, Dulik, Matthew C., Conlin, Laura K., Abou Tayoun, Ahmad N., Luo, Minjie, Wu, Chao, Cao, Kajia, Sarmady, Mahdi, Bedoukian, Emma C., Tarpinian, Jennifer, Medne, Livija, Skraban, Cara M., Deardorff, Matthew A., Krantz, Ian D., Krock, Bryan L., Santani, Avni B.

“…Clinical exome sequencing (CES) has a reported diagnostic yield of 20% to 30% for most clinical indications. The ongoing discovery of novel gene–disease and…”
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Monoallelic BMP2 Variants Predicted to Result in Haploinsufficiency Cause Craniofacial, Skeletal, and Cardiac Features Overlapping Those of 20p12 Deletions by Tan, Tiong Yang, Gonzaga-Jauregui, Claudia, Bhoj, Elizabeth J., Strauss, Kevin A., Brigatti, Karlla, Puffenberger, Erik, Li, Dong, Xie, LiQin, Das, Nanditha, Skubas, Ioanna, Deckelbaum, Ron A., Hughes, Virginia, Brydges, Susannah, Hatsell, Sarah, Siao, Chia-Jen, Dominguez, Melissa G., Economides, Aris, Overton, John D., Mayne, Valerie, Simm, Peter J., Jones, Bryn O., Eggers, Stefanie, Le Guyader, Gwenaël, Pelluard, Fanny, Haack, Tobias B., Sturm, Marc, Riess, Angelika, Waldmueller, Stephan, Hofbeck, Michael, Steindl, Katharina, Joset, Pascal, Rauch, Anita, Hakonarson, Hakon, Baker, Naomi L., Farlie, Peter G.

“…Bone morphogenetic protein 2 (BMP2) in chromosomal region 20p12 belongs to a gene superfamily encoding TGF-β-signaling proteins involved in bone and cartilage…”
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Maternal uniparental disomy of chromosome 20: a novel imprinting disorder of growth failure by Mulchandani, Surabhi, Bhoj, Elizabeth J., Luo, Minjie, Powell-Hamilton, Nina, Jenny, Kim, Gripp, Karen W., Elbracht, Miriam, Eggermann, Thomas, Turner, Claire L.S., Temple, I. Karen, Mackay, Deborah J.G., Dubbs, Holly, Stevenson, David A., Slattery, Leah, Zackai, Elaine H., Spinner, Nancy B., Krantz, Ian D., Conlin, Laura K.

“…Maternal uniparental disomy of chromosome 20 (UPD(20)mat) has been reported in only four patients, three of whom also had mosaicism for complete or partial…”
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MAVS and MyD88 Are Essential for Innate Immunity but Not Cytotoxic T Lymphocyte Response against Respiratory Syncytial Virus by Bhoj, Vijay G., Sun, Qinmiao, Bhoj, Elizabeth J., Somers, Cynthia, Chen, Xiang, Torres, Juan-Pablo, Mejias, Asuncion, Gomez, Ana M., Jafri, Hasan, Ramilo, Octavio, Chen, Zhijian J.

“…Infection by RNA viruses is detected by the host through Toll-like receptors or RIG-I-like receptors. Toll-like receptors and RIG-I-like receptors signal…”
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Congenital diaphragmatic hernia as a prominent feature of a SPECC1L‐related syndrome by Wild, K. Taylor, Gordon, Tia, Bhoj, Elizabeth J., Du, Haowei, Jhangiani, Shalini N., Posey, Jennifer E., Lupski, James R., Scott, Daryl A., Zackai, Elaine H.

“…Congenital diaphragmatic hernias (CDH) confer substantial morbidity and mortality. Genetic defects, including chromosomal anomalies, copy number variants, and…”
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Activating variants in PDGFRB result in a spectrum of disorders responsive to imatinib monotherapy by Wenger, Tara L., Bly, Randall A., Wu, Natalie, Albert, Catherine M., Park, Julie, Shieh, Joseph, Chenbhanich, Jirat, Heike, Carrie L., Adam, Margaret P., Chang, Irene, Sun, Angela, Miller, Danny E., Beck, Anita E., Gupta, Deepti, Boos, Markus D., Zackai, Elaine H., Everman, David, Ganapathi, Shireen, Wilson, Meredith, Christodoulou, John, Zarate, Yuri A., Curry, Cynthia, Li, Dong, Guimier, Anne, Amiel, Jeanne, Hakonarson, Hakon, Webster, Richard, Bhoj, Elizabeth J., Perkins, Jonathan A., Dahl, John P., Dobyns, William B.

“…More than 50 individuals with activating variants in the receptor tyrosine kinase PDGFRB have been reported, separated based on clinical features into solitary…”
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De novo variants in CACNA1E found in patients with intellectual disability, developmental regression and social cognition deficit but no seizures by Royer-Bertrand, Beryl, Jequier Gygax, Marine, Cisarova, Katarina, Rosenfeld, Jill A, Bassetti, Jennifer A, Moldovan, Oana, O'Heir, Emily, Burrage, Lindsay C, Allen, Jake, Emrick, Lisa T, Eastman, Emma, Kumps, Camille, Abbas, Safdar, Van Winckel, Geraldine, Chabane, Nadia, Zackai, Elaine H, Lebon, Sebastien, Keena, Beth, Bhoj, Elizabeth J, Umair, Muhammad, Li, Dong, Donald, Kirsten A, Superti-Furga, Andrea

“…De novo variants in the voltage-gated calcium channel subunit α1 E gene (CACNA1E) have been described as causative of epileptic encephalopathy with…”
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Expanding the SPECC1L mutation phenotypic spectrum to include Teebi hypertelorism syndrome by Bhoj, Elizabeth J., Li, Dong, Harr, Margaret H., Tian, Lifeng, Wang, Tiancheng, Zhao, Yan, Qiu, Haijun, Kim, Cecilia, Hoffman, Jodi D., Hakonarson, Hakon, Zackai, Elaine H.

“…Teebi hypertelorism syndrome is a rare autosomal dominant disorder that has eluded a molecular etiology since first described in 1987. Here we report on two…”
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Variants in PHF8 cause a spectrum of X-linked neurodevelopmental disorders and facial dysmorphology by Sobering, Andrew K., Bryant, Laura M., Li, Dong, McGaughran, Julie, Maystadt, Isabelle, Moortgat, Stephanie, Graham, John M., van Haeringen, Arie, Ruivenkamp, Claudia, Cuperus, Roos, Vogt, Julie, Morton, Jenny, Brasch-Andersen, Charlotte, Steenhof, Maria, Hansen, Lars Kjærsgaard, Adler, Élodie, Lyonnet, Stanislas, Pingault, Veronique, Sandrine, Marlin, Ziegler, Alban, Donald, Tyhiesia, Nelson, Beverly, Holt, Brandon, Petryna, Oleksandra, Firth, Helen, McWalter, Kirsty, Zyskind, Jacob, Telegrafi, Aida, Juusola, Jane, Person, Richard, Bamshad, Michael J., Earl, Dawn, Tsai, Anne Chun-Hui, Yearwood, Katherine R., Marco, Elysa, Nowak, Catherine, Douglas, Jessica, Hakonarson, Hakon, Bhoj, Elizabeth J.

“…Loss-of-function variants in PHD Finger Protein 8 (PHF8) cause Siderius X-linked intellectual disability (ID) syndrome, hereafter called PHF8-XLID. PHF8 is a…”
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A novel SYNJ1 homozygous variant causing developmental and epileptic encephalopathy in an Afro‐Caribbean individual by Maj, Mary, Taylor, Christie L., Landau, Kevin, Toriello, Helga V., Li, Dong, Bhoj, Elizabeth J., Hakonarson, Hakon, Nelson, Beverly, Gluschitz, Sarah, Walker, Ruth H., Sobering, Andrew K.

“…Background SYNJ1 encodes Synaptojanin‐1, a dual‐function poly‐phosphoinositide phosphatase that is expressed in the brain to regulate neuronal synaptic vesicle…”
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A novel unbalanced translocation between chromosomes 5p and 18q leading to dysmorphology and global developmental delay by Verdi, Giavanna, Li, Dong, Elsea, Sarah H., Nelson, Beverly, Bhoj, Elizabeth J., Hakonarson, Hakon, Yearwood, Katherine R., Upadhya, Sharmila, Gluschitz, Sarah, Smith, Janice L., Sobering, Andrew K.

“…Background Individuals with various sized terminal duplications of chromosome 5p or terminal deletions of chromosome 18q have been described. These aberrations…”
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Discovery of a neuromuscular syndrome caused by biallelic variants in ASCC3 by Nair, Divya, Li, Dong, Erdogan, Hannah, Yoon, Andrew, Harr, Margaret H., Bergant, Gaber, Peterlin, Borut, Škrjanec Pušenjak, Maruša, Jayakar, Parul, Pfundt, Rolph, Jansen, Sandra, McWalter, Kirsty, Sidhu, Alpa, Saliganan, Sheila, Agolini, Emanuele, Jacob, Arthur, Pasquier, Jennifer, Arash, Rafii, Kahrizi, Kimia, Najmabadi, Hossein, Ropers, Hans-Hilger, Bhoj, Elizabeth J.

“…Activating Signal Cointegrator 1 Complex, Subunit 3 (ASCC3) is part of the four-part ASC-1 transcriptional cointegrator complex. This complex includes ASCC1…”
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Beare-Stevenson syndrome: Two new patients, including a novel finding of tracheal cartilaginous sleeve by Wenger, Tara L., Bhoj, Elizabeth J., Wetmore, Ralph F., Mennuti, Michael T., Bartlett, Scott P., Mollen, Thomas J., McDonald-McGinn, Donna M., Zackai, Elaine H.

“…Beare–Stevenson syndrome (BSS) is a rare FGFR2‐associated craniosynostosis syndrome with a higher rate of sudden unexplained death than related conditions such…”
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Application of exome sequencing to diagnose a novel presentation of the Cornelia de Lange syndrome in an Afro‐Caribbean family by Thompson, Wayne, Carey, Patrick Z., Donald, Tyhiesia, Nelson, Beverly, Bhoj, Elizabeth J., Li, Dong, Hakonarson, Hakon, Ramirez, Maricela, Elsea, Sarah H., Smith, Janice L., Carey, John C., Sobering, Andrew K.

“…Background Cornelia de Lange syndrome (CdLS) comprises a recognizable pattern of multiple congenital anomalies caused by variants of the DNA cohesion complex…”
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Mapping RNA splicing variations in clinically accessible and nonaccessible tissues to facilitate Mendelian disease diagnosis using RNA-seq by Aicher, Joseph K., Jewell, Paul, Vaquero-Garcia, Jorge, Barash, Yoseph, Bhoj, Elizabeth J.

“…Purpose RNA-seq is a promising approach to improve diagnoses by detecting pathogenic aberrations in RNA splicing that are missed by DNA sequencing. RNA-seq is…”
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ARAF recurrent mutation causes central conducting lymphatic anomaly treatable with a MEK inhibitor by Li, Dong, March, Michael E., Gutierrez-Uzquiza, Alvaro, Kao, Charlly, Seiler, Christoph, Pinto, Erin, Matsuoka, Leticia S., Battig, Mark R., Bhoj, Elizabeth J., Wenger, Tara L., Tian, Lifeng, Robinson, Nora, Wang, Tiancheng, Liu, Yichuan, Weinstein, Brant M., Swift, Matthew, Jung, Hyun Min, Kaminski, Courtney N., Chiavacci, Rosetta, Perkins, Jonathan A., Levine, Michael A., Sleiman, Patrick M. A., Hicks, Patricia J., Strausbaugh, Janet T., Belasco, Jean B., Dori, Yoav, Hakonarson, Hakon

“…The treatment of lymphatic anomaly, a rare devastating disease spectrum of mostly unknown etiologies, depends on the patient manifestations 1 . Identifying the…”
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Human balanced translocation and mouse gene inactivation implicate Basonuclin 2 in distal urethral development by BHOJ, Elizabeth J, RAMOS, Purita, VANHOUTTEGHEM, Amandine, DJIAN, Philippe, ZINN, Andrew R, BAKER, Linda A, COST, Nicholas, NORDENSKJÖLD, Agneta, ELDER, Frederick F, BLEYL, Steven B, BOWLES, Neil E, ARRINGTON, Cammon B, DELHOMME, Brigitte

“…We studied a man with distal hypospadias, partial anomalous pulmonary venous return, mild limb-length inequality and a balanced translocation involving…”
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