Search Results - "McDonald, Marie T."

Clinical application of exome sequencing in undiagnosed genetic conditions by Need, Anna C, Shashi, Vandana, Hitomi, Yuki, Schoch, Kelly, Shianna, Kevin V, McDonald, Marie T, Meisler, Miriam H, Goldstein, David B

“…There is considerable interest in the use of next-generation sequencing to help diagnose unidentified genetic conditions, but it is difficult to predict the…”
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Alternative transcripts in variant interpretation: the potential for missed diagnoses and misdiagnoses by Schoch, Kelly, Tan, Queenie K.-G., Stong, Nicholas, Deak, Kristen L., McConkie-Rosell, Allyn, McDonald, Marie T., Goldstein, David B., Jiang, Yong-hui, Shashi, Vandana

“…Purpose Guidelines by professional organizations for assessing variant pathogenicity include the recommendation to utilize biologically relevant transcripts;…”
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Biallelic mutations in FDXR cause neurodegeneration associated with inflammation by Slone, Jesse, Peng, Yanyan, Chamberlin, Adam, Harris, Belinda, Kaylor, Julie, McDonald, Marie T, Lemmon, Monica, El-Dairi, Mays Antonine, Tchapyjnikov, Dmitry, Gonzalez-Krellwitz, Laura A, Sellars, Elizabeth A, McConkie-Rosell, Allyn, Reinholdt, Laura G, Huang, Taosheng

“…Mitochondrial dysfunction lies behind many neurodegenerative disorders, owing largely to the intense energy requirements of most neurons. Such mitochondrial…”
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The severity of MUSK pathogenic variants is predicted by the protein domain they disrupt by Cocanougher, Benjamin T., Liu, Samuel W., Francescatto, Ludmila, Behura, Alexander, Anneling, Mariele, Jackson, David G., Deak, Kristen L., Hornik, Chi D., ElMallah, Mai K., Pizoli, Carolyn E., Smith, Edward C., Tan, Khoon Ghee Queenie, McDonald, Marie T.

“…Biallelic loss-of-function variants in the MUSK gene result in two allelic disorders: (1) congenital myasthenic syndrome (CMS; OMIM: 616325), a neuromuscular…”
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Adult Surgical Experience With Loeys-Dietz Syndrome by Williams, Jason A., MD, Hanna, Jennifer M., MD, MBA, Shah, Asad A., MD, Andersen, Nicholas D., MD, McDonald, Marie T., MD, Jiang, Yong-hui, MD, Wechsler, Stephanie Burns, MD, Zomorodi, Ali, MD, McCann, Richard L., MD, Hughes, G. Chad, MD

“…Background Loeys-Dietz syndrome (LDS) results from mutations in receptors for the cytokine transforming growth factor-β leading to aggressive aortic pathology…”
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Microduplication 22q11.2, an Emerging Syndrome: Clinical, Cytogenetic, and Molecular Analysis of Thirteen Patients by Ensenauer, Regina E., Adeyinka, Adewale, Flynn, Heather C., Michels, Virginia V., Lindor, Noralane M., Dawson, D. Brian, Thorland, Erik C., Lorentz, Cindy Pham, Goldstein, Jennifer L., McDonald, Marie T., Smith, Wendy E., Simon-Fayard, Elba, Alexander, Alan A., Kulharya, Anita S., Ketterling, Rhett P., Clark, Robin D., Jalal, Syed M.

“…Chromosome 22, particularly band 22q11.2, is predisposed to rearrangements due to misalignments of low-copy repeats (LCRs). DiGeorge/velocardiofacial syndrome…”
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Further clinical and molecular delineation of the 15q24 microdeletion syndrome by Mefford, Heather C, Rosenfeld, Jill A, Shur, Natasha, Slavotinek, Anne M, Cox, Victoria A, Hennekam, Raoul C, Firth, Helen V, Willatt, Lionel, Wheeler, Patricia, Morrow, Eric M, Cook, Joseph, Sullivan, Rachel, Oh, Albert, McDonald, Marie T, Zonana, Jonathan, Keller, Kory, Hannibal, Mark C, Ball, Susie, Kussmann, Jennifer, Gorski, Jerome, Zelewski, Susan, Banks, Valerie, Smith, Wendy, Smith, Rosemarie, Paull, Lindsay, Rosenbaum, Kenneth N, Amor, David J, Silva, Joao, Lamb, Allen, Eichler, Evan E

“…Chromosome 15q24 microdeletion syndrome is a rare genomic disorder characterised by intellectual disability, growth retardation, unusual facial morphology and…”
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De novo mutations in KIF1A cause progressive encephalopathy and brain atrophy by Esmaeeli Nieh, Sahar, Madou, Maura R. Z., Sirajuddin, Minhajuddin, Fregeau, Brieana, McKnight, Dianalee, Lexa, Katrina, Strober, Jonathan, Spaeth, Christine, Hallinan, Barbara E., Smaoui, Nizar, Pappas, John G., Burrow, Thomas A., McDonald, Marie T., Latibashvili, Mariam, Leshinsky‐Silver, Esther, Lev, Dorit, Blumkin, Luba, Vale, Ronald D., Barkovich, Anthony James, Sherr, Elliott H.

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Mutations in WDR62 , encoding a centrosome-associated protein, cause microcephaly with simplified gyri and abnormal cortical architecture by Walsh, Christopher A, Yu, Timothy W, Mochida, Ganeshwaran H, Tischfield, David J, Sgaier, Sema K, Flores-Sarnat, Laura, Sergi, Consolato M, Topçu, Meral, McDonald, Marie T, Barry, Brenda J, Felie, Jillian M, Sunu, Christine, Dobyns, William B, Folkerth, Rebecca D, Barkovich, A James

“…Genes associated with human microcephaly, a condition characterized by a small brain, include critical regulators of proliferation, cell fate and DNA repair…”
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Functional variants in TBX2 are associated with a syndromic cardiovascular and skeletal developmental disorder by Liu, Ning, Schoch, Kelly, Luo, Xi, Pena, Loren D M, Bhavana, Venkata Hemanjani, Kukolich, Mary K, Stringer, Sarah, Powis, Zöe, Radtke, Kelly, Mroske, Cameron, Deak, Kristen L, McDonald, Marie T, McConkie-Rosell, Allyn, Markert, M Louise, Kranz, Peter G, Stong, Nicholas, Need, Anna C, Bick, David, Amaral, Michelle D, Worthey, Elizabeth A, Levy, Shawn, Wangler, Michael F, Bellen, Hugo J, Shashi, Vandana, Yamamoto, Shinya

“…Abstract The 17 genes of the T-box family are transcriptional regulators that are involved in all stages of embryonic development, including craniofacial,…”
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Single substitution in H3.3G34 alters DNMT3A recruitment to cause progressive neurodegeneration by Khazaei, Sima, Chen, Carol C.L., Andrade, Augusto Faria, Kabir, Nisha, Azarafshar, Pariya, Morcos, Shahir M., França, Josiane Alves, Lopes, Mariana, Lund, Peder J., Danieau, Geoffroy, Worme, Samantha, Adnani, Lata, Nzirorera, Nadine, Chen, Xiao, Yogarajah, Gayathri, Russo, Caterina, Zeinieh, Michele, Wong, Cassandra J., Bryant, Laura, Hébert, Steven, Tong, Bethany, Sihota, Tianna S., Faury, Damien, Puligandla, Evan, Jawhar, Wajih, Sandy, Veronica, Cowan, Mitra, Nakada, Emily M., Jerome-Majewska, Loydie A., Ellezam, Benjamin, Gomes, Carolina Cavalieri, Denecke, Jonas, Lessel, Davor, McDonald, Marie T., Pizoli, Carolyn E., Taylor, Kathryn, Cocanougher, Benjamin T., Bhoj, Elizabeth J., Gingras, Anne-Claude, Garcia, Benjamin A., Lu, Chao, Campos, Eric I., Kleinman, Claudia L., Garzia, Livia, Jabado, Nada

“…Germline histone H3.3 amino acid substitutions, including H3.3G34R/V, cause severe neurodevelopmental syndromes. To understand how these mutations impact brain…”
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A pathogenic variant in the SETBP1 hotspot results in a forme‐fruste Schinzel–Giedion syndrome by Sullivan, Jennifer A., Stong, Nicholas, Baugh, Evan H., McDonald, Marie T., Takeuchi, Akihito, Shashi, Vandana

“…Schinzel–Giedion syndrome (SGS; OMIM 269150) is an ultra‐rare genetic disorder associated with a distinctive facial gestalt, congenital malformations, severe…”
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Novel association of Dandy-Walker malformation with CAPN15 variants expands the phenotype of oculogastrointestinal neurodevelopmental syndrome by Beaman, M Makenzie, Guidugli, Lucia, Hammer, Monia, Barrows, Chelsea, Gregor, Anne, Lee, Sangmoon, Deak, Kristen L, McDonald, Marie T, Jensen, Courtney, Zaki, Maha S, Masri, Amira T, Hobbs, Charlotte A, Gleeson, Joseph G, Cohen, Jennifer L

“…Oculogastrointestinal neurodevelopmental syndrome has been described in seven previously published individuals who harbor biallelic pathogenic variants in the…”
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Mutations in Fibronectin Cause a Subtype of Spondylometaphyseal Dysplasia with “Corner Fractures” by Lee, Chae Syng, Fu, He, Baratang, Nissan, Rousseau, Justine, Kumra, Heena, Sutton, V. Reid, Niceta, Marcello, Ciolfi, Andrea, Yamamoto, Guilherme, Bertola, Débora, Marcelis, Carlo L., Lugtenberg, Dorien, Bartuli, Andrea, Kim, Choel, Hoover-Fong, Julie, Sobreira, Nara, Pauli, Richard, Bacino, Carlos, Krakow, Deborah, Parboosingh, Jillian, Yap, Patrick, Kariminejad, Ariana, McDonald, Marie T., Aracena, Mariana I., Lausch, Ekkehart, Unger, Sheila, Superti-Furga, Andrea, Lu, James T., Cohn, Dan H., Tartaglia, Marco, Lee, Brendan H., Reinhardt, Dieter P., Campeau, Philippe M.

“…Fibronectin is a master organizer of extracellular matrices (ECMs) and promotes the assembly of collagens, fibrillin-1, and other proteins. It is also known to…”
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CSGALNACT1‐congenital disorder of glycosylation: A mild skeletal dysplasia with advanced bone age by Mizumoto, Shuji, Janecke, Andreas R., Sadeghpour, Azita, Povysil, Gundula, McDonald, Marie T., Unger, Sheila, Greber‐Platzer, Susanne, Deak, Kristen L., Katsanis, Nicholas, Superti‐Furga, Andrea, Sugahara, Kazuyuki, Davis, Erica E., Yamada, Shuhei, Vodopiutz, Julia

“…Congenital disorders of glycosylation (CDGs) comprise a large number of inherited metabolic defects that affect the biosynthesis and attachment of glycans…”
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Mutations in NCAPG2 Cause a Severe Neurodevelopmental Syndrome that Expands the Phenotypic Spectrum of Condensinopathies by Khan, Tahir N., Khan, Kamal, Sadeghpour, Azita, Reynolds, Hannah, Perilla, Yezmin, McDonald, Marie T., Gallentine, William B., Baig, Shahid M., Allori, Alexander, Angrist, Misha, Ashley, Patricia, Bidegain, Margarita, Boyd, Brita, Chambers, Eileen, Cope, Heidi, Cotten, C. Michael, Curington, Theresa, Davis, Erica E., Ellestad, Sarah, Fisher, Kimberley, French, Amanda, Gallentine, William, Goldberg, Ronald, Hill, Kevin, Kansagra, Sujay, Katsanis, Nicholas, Katsanis, Sara, Kurtzberg, Joanne, Marcus, Jeffrey, McDonald, Marie, Mikati, Mohammed, Miller, Stephen, Murtha, Amy, Perilla, Yezmin, Pizoli, Carolyn, Purves, Todd, Ross, Sherry, Sadeghpour, Azita, Smith, Edward, Wiener, John, Davis, Erica E., Katsanis, Nicholas

“…The use of whole-exome and whole-genome sequencing has been a catalyst for a genotype-first approach to diagnostics. Under this paradigm, we have implemented…”
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Deficiency in SLC25A1, Encoding the Mitochondrial Citrate Carrier, Causes Combined D-2- and L-2-Hydroxyglutaric Aciduria by Nota, Benjamin, Struys, Eduard A., Pop, Ana, Jansen, Erwin E., Fernandez Ojeda, Matilde R., Kanhai, Warsha A., Kranendijk, Martijn, van Dooren, Silvy J.M., Bevova, Marianna R., Sistermans, Erik A., Nieuwint, Aggie W.M., Barth, Magalie, Ben-Omran, Tawfeg, Hoffmann, Georg F., de Lonlay, Pascale, McDonald, Marie T., Meberg, Alf, Muntau, Ania C., Nuoffer, Jean-Marc, Parini, Rossella, Read, Marie-Hélène, Renneberg, Axel, Santer, René, Strahleck, Thomas, van Schaftingen, Emile, van der Knaap, Marjo S., Jakobs, Cornelis, Salomons, Gajja S.

“…The Krebs cycle is of fundamental importance for the generation of the energetic and molecular needs of both prokaryotic and eukaryotic cells. Both enantiomers…”
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Interference of nuclear mitochondrial DNA segments in mitochondrial DNA testing resembles biparental transmission of mitochondrial DNA in humans by Bai, Renkui, Cui, Hong, Devaney, Joseph M., Allis, Katrina M., Balog, Amanda M., Liu, Xinyue, Schnur, Rhonda E., Shapiro, Faye L., Brautbar, Ariel, Estrada-Veras, Juvianee I., Hochstetler, Laurel, McConkie-Rosell, Allyn, McDonald, Marie T., Solomon, Benjamin D., Hofherr, Sean, Richard, Gabriele, Suchy, Sharon F.

“…Reports have questioned the dogma of exclusive maternal transmission of human mitochondrial DNA (mtDNA), including the recent report of an admixture of two…”
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Hemimegalencephaly with Bannayan‐Riley‐Ruvalcaba syndrome by Ghusayni, Ryan, Sachdev, Monisha, Gallentine, William, Mikati, Mohamad A, McDonald, Marie T

“…ABSTRACT Hemimegalencephaly is known to occur in Proteus syndrome, but has not been reported, to our knowledge, in the other PTEN mutation‐related syndrome of…”
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Novel pathogenic variants in FOXP3 in fetuses with echogenic bowel and skin desquamation identified by ultrasound by Louie, Raymond J., Tan, Queenie K.‐G., Gilner, Jennifer B., Rogers, R. Curtis, Younge, Noelle, Wechsler, Stephanie B., McDonald, Marie T., Gordon, Barbara, Saski, Christopher A., Jones, Julie R., Chapman, Shelley J., Stevenson, Roger E., Sleasman, John W., Friez, Michael J.

“…Immunodysregulation, Polyendocrinopathy, Enteropathy, X‐linked (IPEX) syndrome is a rare, X‐linked recessive disease that affects regulatory T cells (Tregs)…”
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