Search Results - "Chao, Katherine R"

Novel SPEG mutations in congenital myopathies: Genotype–phenotype correlations by Qualls, Anita E., Donkervoort, Sandra, Herkert, Johanna C., D'gama, Alissa M., Bharucha‐Goebel, Diana, Collins, James, Chao, Katherine R., Foley, A. Reghan, Schoots, Mirthe H., Jongbloed, Jan D.H., Bönnemann, Carsten G., Agrawal, Pankaj B.

“…ABSTRACT Introduction: Centronuclear myopathies (CNMs) are a subtype of congenital myopathies (CMs) characterized by muscle weakness, predominant type 1…”
Get full text

Childhood amyotrophic lateral sclerosis caused by excess sphingolipid synthesis by Mohassel, Payam, Donkervoort, Sandra, Lone, Museer A., Nalls, Matthew, Gable, Kenneth, Gupta, Sita D., Foley, A. Reghan, Hu, Ying, Saute, Jonas Alex Morales, Moreira, Ana Lucila, Kok, Fernando, Introna, Alessandro, Logroscino, Giancarlo, Grunseich, Christopher, Nickolls, Alec R., Pourshafie, Naemeh, Neuhaus, Sarah B., Saade, Dimah, Gangfuß, Andrea, Kölbel, Heike, Piccus, Zoe, Le Pichon, Claire E., Fiorillo, Chiara, Ly, Cindy V., Töpf, Ana, Brady, Lauren, Specht, Sabine, Zidell, Aliza, Pedro, Helio, Mittelmann, Eric, Thomas, Florian P., Chao, Katherine R., Konersman, Chamindra G., Cho, Megan T., Brandt, Tracy, Straub, Volker, Connolly, Anne M., Schara, Ulrike, Roos, Andreas, Tarnopolsky, Mark, Höke, Ahmet, Brown, Robert H., Lee, Chia-Hsueh, Hornemann, Thorsten, Dunn, Teresa M., Bönnemann, Carsten G.

“…Amyotrophic lateral sclerosis (ALS) is a progressive, neurodegenerative disease of the lower and upper motor neurons with sporadic or hereditary occurrence…”
Get full text

The Genetic Landscape of Diamond-Blackfan Anemia by Ulirsch, Jacob C., Verboon, Jeffrey M., Kazerounian, Shideh, Guo, Michael H., Yuan, Daniel, Ludwig, Leif S., Handsaker, Robert E., Abdulhay, Nour J., Fiorini, Claudia, Genovese, Giulio, Lim, Elaine T., Cheng, Aaron, Cummings, Beryl B., Chao, Katherine R., Beggs, Alan H., Genetti, Casie A., Sieff, Colin A., Newburger, Peter E., Niewiadomska, Edyta, Matysiak, Michal, Vlachos, Adrianna, Lipton, Jeffrey M., Atsidaftos, Eva, Glader, Bertil, Narla, Anupama, Gleizes, Pierre-Emmanuel, O’Donohue, Marie-Françoise, Montel-Lehry, Nathalie, Amor, David J., McCarroll, Steven A., O’Donnell-Luria, Anne H., Gupta, Namrata, Gabriel, Stacey B., MacArthur, Daniel G., Lander, Eric S., Lek, Monkol, Da Costa, Lydie, Nathan, David G., Korostelev, Andrei A., Do, Ron, Sankaran, Vijay G., Gazda, Hanna T.

“…Diamond-Blackfan anemia (DBA) is a rare bone marrow failure disorder that affects 7 out of 1,000,000 live births and has been associated with mutations in…”
Get full text

seqr: A web‐based analysis and collaboration tool for rare disease genomics by Pais, Lynn S., Snow, Hana, Weisburd, Ben, Zhang, Shifa, Baxter, Samantha M., DiTroia, Stephanie, O'Heir, Emily, England, Eleina, Chao, Katherine R., Lemire, Gabrielle, Osei‐Owusu, Ikeoluwa, VanNoy, Grace E., Wilson, Michael, Nguyen, Kevin, Arachchi, Harindra, Phu, William, Solomonson, Matthew, Mano, Stacy, O'Leary, Melanie, Lovgren, Alysia, Babb, Lawrence, Austin‐Tse, Christina A., Rehm, Heidi L., MacArthur, Daniel G., O'Donnell‐Luria, Anne

“…Exome and genome sequencing have become the tools of choice for rare disease diagnosis, leading to large amounts of data available for analyses. To identify…”
Get full text

Germline GATA1s-generating mutations predispose to leukemia with acquired trisomy 21 and Down syndrome-like phenotype by Hasle, Henrik, Kline, Ronald M., Kjeldsen, Eigil, Nik-Abdul-Rashid, Nik F., Bhojwani, Deepa, Verboon, Jeffrey M., DiTroia, Stephanie P., Chao, Katherine R., Raaschou-Jensen, Klas, Palle, Josefine, Zwaan, C. Michel, Nyvold, Charlotte Guldborg, Sankaran, Vijay G., Cantor, Alan B.

“…Individuals with Down syndrome are at increased risk of myeloid leukemia in early childhood, which is associated with acquisition of GATA1 mutations that…”
Get full text

Non-coding region variants upstream of MEF2C cause severe developmental disorder through three distinct loss-of-function mechanisms by Wright, Caroline F., Quaife, Nicholas M., Ramos-Hernández, Laura, Danecek, Petr, Ferla, Matteo P., Samocha, Kaitlin E., Kaplanis, Joanna, Gardner, Eugene J., Eberhardt, Ruth Y., Chao, Katherine R., Karczewski, Konrad J., Morales, Joannella, Gallone, Giuseppe, Balasubramanian, Meena, Banka, Siddharth, Gompertz, Lianne, Kerr, Bronwyn, Kirby, Amelia, Lynch, Sally A., Morton, Jenny E.V., Pinz, Hailey, Sansbury, Francis H., Stewart, Helen, Zuccarelli, Britton D., Cook, Stuart A., Taylor, Jenny C., Juusola, Jane, Retterer, Kyle, Firth, Helen V., Hurles, Matthew E., Lara-Pezzi, Enrique, Barton, Paul J.R., Whiffin, Nicola

“…Clinical genetic testing of protein-coding regions identifies a likely causative variant in only around half of developmental disorder (DD) cases. The…”
Get full text

Genome-wide significance testing of variation from single case exomes by Wilfert, Amy B, Chao, Katherine R, Kaushal, Madhurima, Jain, Sanjay, Zöllner, Sebastian, Adams, David R, Conrad, Donald F

“…Donald Conrad and colleagues present a method, PSAP, for prioritizing potential Mendelian disease-causing variants in single human exomes using pathogenicity…”
Get full text

MACF1 Mutations Encoding Highly Conserved Zinc-Binding Residues of the GAR Domain Cause Defects in Neuronal Migration and Axon Guidance by Dobyns, William B., Aldinger, Kimberly A., Ishak, Gisele E., Mirzaa, Ghayda M., Timms, Andrew E., Grout, Megan E., Dremmen, Marjolein H.G., Schot, Rachel, Vandervore, Laura, van Slegtenhorst, Marjon A., Wilke, Martina, Kasteleijn, Esmee, Lee, Arthur S., Barry, Brenda J., Chao, Katherine R., Szczałuba, Krzysztof, Kobori, Joyce, Hanson-Kahn, Andrea, Bernstein, Jonathan A., Carr, Lucinda, D’Arco, Felice, Miyana, Kaori, Okazaki, Tetsuya, Saito, Yoshiaki, Sasaki, Masayuki, Das, Soma, Wheeler, Marsha M., Bamshad, Michael J., Nickerson, Deborah A., Engle, Elizabeth C., Verheijen, Frans W., Doherty, Dan, Mancini, Grazia M.S.

“…To date, mutations in 15 actin- or microtubule-associated genes have been associated with the cortical malformation lissencephaly and variable brainstem…”
Get full text

Recurrent de novo SPTLC2 variant causes childhood-onset amyotrophic lateral sclerosis (ALS) by excess sphingolipid synthesis by Syeda, Safoora B, Lone, Museer A, Mohassel, Payam, Donkervoort, Sandra, Munot, Pinki, França, Marcondes C, Galarza-Brito, Juan Eli, Eckenweiler, Matthias, Asamoah, Alexander, Gable, Kenneth, Majumdar, Anirban, Schumann, Anke, Gupta, Sita D, Lakhotia, Arpita, Shieh, Perry B, Foley, A Reghan, Jackson, Kelly E, Chao, Katherine R, Winder, Thomas L, Catapano, Francesco, Feng, Lucy, Kirschner, Janbernd, Muntoni, Francesco, Dunn, Teresa M, Hornemann, Thorsten, Bönnemann, Carsten G

“…BackgroundAmyotrophic lateral sclerosis (ALS) is a neurodegenerative disease of the upper and lower motor neurons with varying ages of onset, progression and…”
Get full text

Bi-allelic variants in HMGCR cause an autosomal-recessive progressive limb-girdle muscular dystrophy by Morales-Rosado, Joel A., Schwab, Tanya L., Macklin-Mantia, Sarah K., Foley, A. Reghan, Pinto e Vairo, Filippo, Pehlivan, Davut, Donkervoort, Sandra, Rosenfeld, Jill A., Boyum, Grace E., Hu, Ying, Cong, Anh T.Q., Lotze, Timothy E., Mohila, Carrie A., Saade, Dimah, Bharucha-Goebel, Diana, Chao, Katherine R., Grunseich, Christopher, Bruels, Christine C., Littel, Hannah R., Estrella, Elicia A., Pais, Lynn, Kang, Peter B., Zimmermann, Michael T., Lupski, James R., Lee, Brendan, Schellenberg, Matthew J., Clark, Karl J., Wierenga, Klaas J., Bönnemann, Carsten G., Klee, Eric W.

“…Statins are a mainstay intervention for cardiovascular disease prevention, yet their use can cause rare severe myopathy. HMG-CoA reductase, an essential enzyme…”
Get full text

A harmonized public resource of deeply sequenced diverse human genomes by Koenig, Zan, Yohannes, Mary T, Nkambule, Lethukuthula L, Zhao, Xuefang, Goodrich, Julia K, Kim, Heesu Ally, Wilson, Michael W, Tiao, Grace, Hao, Stephanie P, Sahakian, Nareh, Chao, Katherine R, Walker, Mark A, Lyu, Yunfei, Rehm, Heidi, Neale, Benjamin M, Talkowski, Michael E, Daly, Mark J, Brand, Harrison, Karczewski, Konrad J, Atkinson, Elizabeth G, Martin, Alicia R

“…Underrepresented populations are often excluded from genomic studies due in part to a lack of resources supporting their analyses. The 1000 Genomes Project…”
Get full text

Familial thrombocytopenia due to a complex structural variant resulting in a WAC-ANKRD26 fusion transcript by Wahlster, Lara, Verboon, Jeffrey M, Ludwig, Leif S, Black, Susan C, Luo, Wendy, Garg, Kopal, Voit, Richard A, Collins, Ryan L, Garimella, Kiran, Costello, Maura, Chao, Katherine R, Goodrich, Julia K, DiTroia, Stephanie P, O'Donnell-Luria, Anne, Talkowski, Michael E, Michelson, Alan D, Cantor, Alan B, Sankaran, Vijay G

“…Advances in genome sequencing have resulted in the identification of the causes for numerous rare diseases. However, many cases remain unsolved with standard…”
Get full text

ACTN2 mutations cause “Multiple structured Core Disease” (MsCD) by Lornage, Xavière, Romero, Norma B., Grosgogeat, Claire A., Malfatti, Edoardo, Donkervoort, Sandra, Marchetti, Michael M., Neuhaus, Sarah B., Foley, A. Reghan, Labasse, Clémence, Schneider, Raphaël, Carlier, Robert Y., Chao, Katherine R., Medne, Livija, Deleuze, Jean-François, Orlikowski, David, Bönnemann, Carsten G., Gupta, Vandana A., Fardeau, Michel, Böhm, Johann, Laporte, Jocelyn

“…The identification of genes implicated in myopathies is essential for diagnosis and for revealing novel therapeutic targets. Here we characterize a novel…”
Get full text

The importance of automation in genetic diagnosis: Lessons from analyzing an inherited retinal degeneration cohort with the Mendelian Analysis Toolkit (MATK) by Zampaglione, Erin, Maher, Matthew, Place, Emily M., Wagner, Naomi E., DiTroia, Stephanie, Chao, Katherine R., England, Eleina, CMG, Broad, Catomeris, Andrew, Nassiri, Sherwin, Himes, Seraphim, Pagliarulo, Joey, Ferguson, Charles, Galdikaité-Braziené, Eglé, Cole, Brian, Pierce, Eric A., Bujakowska, Kinga M.

“…In Mendelian disease diagnosis, variant analysis is a repetitive, error-prone, and time consuming process. To address this, we have developed the Mendelian…”
Get full text

Recurrent TTN metatranscript‐only c.39974–11T>G splice variant associated with autosomal recessive arthrogryposis multiplex congenita and myopathy by Bryen, Samantha J., Ewans, Lisa J., Pinner, Jason, MacLennan, Suzanna C., Donkervoort, Sandra, Castro, Diana, Töpf, Ana, O'Grady, Gina, Cummings, Beryl, Chao, Katherine R., Weisburd, Ben, Francioli, Laurent, Faiz, Fathimath, Bournazos, Adam M., Hu, Ying, Grosmann, Carla, Malicki, Denise M., Doyle, Helen, Witting, Nanna, Vissing, John, Claeys, Kristl G., Urankar, Kathryn, Beleza‐Meireles, Ana, Baptista, Julia, Ellard, Sian, Savarese, Marco, Johari, Mridul, Vihola, Anna, Udd, Bjarne, Majumdar, Anirban, Straub, Volker, Bönnemann, Carsten G., MacArthur, Daniel G., Davis, Mark R., Cooper, Sandra T.

“…We present eight families with arthrogryposis multiplex congenita and myopathy bearing a TTN intron 213 extended splice‐site variant…”
Get full text

Disruption of Golgi morphology and altered protein glycosylation in PLA2G6-associated neurodegeneration by Davids, Mariska, Kane, Megan S, He, Miao, Wolfe, Lynne A, Li, Xueli, Raihan, Mohd A, Chao, Katherine R, Bone, William P, Boerkoel, Cornelius F, Gahl, William A, Toro, Camilo

“…Mutations in PLA2G6, which encodes the calcium-independent phospholipase A2 group VI, cause neurodegeneration and diffuse cortical Lewy body formation by a yet…”
Get more information

Exome sequencing identifies novel missense and deletion variants in RTN4IP1 associated with optic atrophy, global developmental delay, epilepsy, ataxia, and choreoathetosis by D'Gama, Alissa M., England, Eleina, Madden, Jill A., Shi, Jiahai, Chao, Katherine R., Wojcik, Monica H., Torres, Alcy R., Tan, Wen‐Hann, Berry, Gerard T., Prabhu, Sanjay P., Agrawal, Pankaj B.

“…Inherited optic neuropathies (IONs) are neurodegenerative disorders characterized by optic atrophy with or without extraocular manifestations. Optic atrophy‐10…”
Get full text

Biallelic loss of function variants in SYT2 cause a treatable congenital onset presynaptic myasthenic syndrome by Donkervoort, Sandra, Mohassel, Payam, Laugwitz, Lucia, Zaki, Maha S., Kamsteeg, Erik‐Jan, Maroofian, Reza, Chao, Katherine R., Verschuuren‐Bemelmans, Corien C., Horber, Veronka, Fock, Annemarie J. M., McCarty, Riley M., Jain, Minal S., Biancavilla, Victoria, McMacken, Grace, Nalls, Matthew, Voermans, Nicol C., Elbendary, Hasnaa M., Snyder, Molly, Cai, Chunyu, Lehky, Tanya J., Stanley, Valentina, Iannaccone, Susan T., Foley, A. Reghan, Lochmüller, Hanns, Gleeson, Joseph, Houlden, Henry, Haack, Tobias B., Horvath, Rita, Bönnemann, Carsten G.

“…Synaptotagmins are integral synaptic vesicle membrane proteins that function as calcium sensors and regulate neurotransmitter release at the presynaptic nerve…”
Get full text

Differential inclusion of NEB exons 143 and 144 provides insight into NEB-related myopathy variant interpretation and disease manifestation by Silverstein, Sarah, Orbach, Rotem, Syeda, Safoora, Foley, A. Reghan, Gorokhova, Svetlana, Meilleur, Katherine G., Leach, Meganne E., Uapinyoying, Prech, Chao, Katherine R., Donkervoort, Sandra, Bönnemann, Carsten G.

“…Biallelic pathogenic variants in the gene encoding nebulin (NEB) are a known cause of congenital myopathy. We present two brothers with congenital myopathy and…”
Get full text

Expanding the phenotypic spectrum in RDH12-associated retinal disease by Scott, Hilary A, Place, Emily M, Ferenchak, Kevin, Zampaglione, Erin, Wagner, Naomi E, Chao, Katherine R, DiTroia, Stephanie P, Navarro-Gomez, Daniel, Mukai, Shizuo, Huckfeldt, Rachel M, Pierce, Eric A, Bujakowska, Kinga M

“…Retinol dehydrogenase 12, RDH12, plays a pivotal role in the visual cycle to ensure the maintenance of normal vision. Alterations in activity of this protein…”
Get full text