A case of Coffin–Siris syndrome with severe congenital heart disease and a novel SMARCA4 variant

por Dsouza, Nikita R., Zimmermann, Michael T., Geddes, Gabrielle C.
Publicado 2019

Structural bioinformatics enhances mechanistic interpretation of genomic variation, demonstrated through the analyses of 935 distinct RAS family mutations

por Tripathi, Swarnendu, Dsouza, Nikita R, Urrutia, Raul, Zimmermann, Michael T
Publicado 2020

Enhanced interpretation of 935 hotspot and non-hotspot RAS variants using evidence-based structural bioinformatics

por Tripathi, Swarnendu, Dsouza, Nikita R., Mathison, Angela J., Leverence, Elise, Urrutia, Raul, Zimmermann, Michael T.
Publicado 2021

Discovery, expression, cellular localization, and molecular properties of a novel, alternative spliced HP1γ isoform, lacking the chromoshadow domain

por Mathison, Angela, Milech De Assuncao, Thiago, Dsouza, Nikita R., Williams, Monique, Zimmermann, Michael T., Urrutia, Raul, Lomberk, Gwen
Publicado 2020

Novel biallelic variants in MSTO1 associated with mitochondrial myopathy

por Schultz-Rogers, Laura, Ferrer, Alejandro, Dsouza, Nikita R., Zimmermann, Michael T., Smith, Benn E., Klee, Eric W., Dhamija, Radhika
Publicado 2019

Interaction between Mas1 and AT1R(A) contributes to enhancement of skeletal muscle angiogenesis by angiotensin-(1-7) in Dahl salt-sensitive rats

por Exner, Eric C., Geurts, Aron M., Hoffmann, Brian R., Casati, Marc, Stodola, Timothy, Dsouza, Nikita R., Zimmermann, Michael, Lombard, Julian H., Greene, Andrew S.
Publicado 2020

Computational modeling reveals key molecular properties and dynamic behavior of disruptor of telomeric silencing 1‐like (DOT1L) and partnering complexes involved in leukemogenesis...

por Stodola, Timothy J., Chi, Young‐In, De Assuncao, Thiago M., Leverence, Elise N., Tripathi, Swarnendu, Dsouza, Nikita R., Mathison, Angela J., Volkman, Brian F., Smith, Brian C., Lomberk, Gwen, Zimmermann, Michael T., Urrutia, Raul
Publicado 2021

Molecular mechanics and dynamic simulations of well-known Kabuki syndrome-associated KDM6A variants reveal putative mechanisms of dysfunction

por Chi, Young-In, Stodola, Timothy J., De Assuncao, Thiago M., Levrence, Elise N., Tripathi, Swarnendu, Dsouza, Nikita R., Mathison, Angela J., Basel, Donald G., Volkman, Brian F., Smith, Brian C., Lomberk, Gwen, Zimmermann, Michael T., Urrutia, Raul
Publicado 2021

Correction to: Molecular mechanics and dynamic simulations of well-known Kabuki syndrome-associated KDM6A variants reveal putative mechanisms of dysfunction

por Chi, Young-In, Stodola, Timothy J., De Assuncao, Thiago M., Levrence, Elise N., Tripathi, Swarnendu, Dsouza, Nikita R., Mathison, Angela J., Basel, Donald G., Volkman, Brian F., Smith, Brian C., Lomberk, Gwen, Zimmermann, Michael T., Urrutia, Raul
Publicado 2021

A homozygous missense variant in UBE2T is associated with a mild Fanconi anemia phenotype

por Schultz-Rogers, Laura, Lach, Francis P., Rickman, Kimberly A., Ferrer, Alejandro, Mangaonkar, Abhishek A., Schwab, Tanya L., Schmitz, Christopher T., Clark, Karl J., Dsouza, Nikita R., Zimmermann, Michael T., Litzow, Mark, Jacobi, Nicole, Klee, Eric W., Smogorzewska, Agata, Patnaik, Mrinal M.
Publicado 2021

Novel KLHL26 variant associated with a familial case of Ebstein’s anomaly and left ventricular noncompaction

por Samudrala, Sai Suma K., North, Lauren M., Stamm, Karl D., Earing, Michael G., Frommelt, Michele A., Willes, Richard, Tripathi, Swarnendu, Dsouza, Nikita R., Zimmermann, Michael T., Mahnke, Donna K., Liang, Huan Ling, Lund, Michael, Lin, Chien‐Wei, Geddes, Gabrielle C., Mitchell, Michael E., Tomita‐Mitchell, Aoy
Publicado 2020

Impairment of the mitochondrial one-carbon metabolism enzyme SHMT2 causes a novel brain and heart developmental syndrome

por García-Cazorla, Àngels, Verdura, Edgard, Juliá-Palacios, Natalia, Anderson, Eric N., Goicoechea, Leire, Planas-Serra, Laura, Tsogtbaatar, Enkhtuul, Dsouza, Nikita R., Schlüter, Agatha, Urreizti, Roser, Tarnowski, Jessica M., Gavrilova, Ralitza H., Ruiz, Montserrat, Rodríguez-Palmero, Agustí, Fourcade, Stéphane, Cogné, Benjamin, Besnard, Thomas, Vincent, Marie, Bézieau, Stéphane, Folmes, Clifford D., Zimmermann, Michael T., Klee, Eric W., Pandey, Udai Bhan, Artuch, Rafael, Cousin, Margot A., Pujol, Aurora
Publicado 2020

Defining the genotypic and phenotypic spectrum of X-linked MSL3-related disorder

por Brunet, Theresa, McWalter, Kirsty, Mayerhanser, Katharina, Anbouba, Grace M., Armstrong-Javors, Amy, Bader, Ingrid, Baugh, Evan, Begtrup, Amber, Bupp, Caleb P., Callewaert, Bert L., Cereda, Anna, Cousin, Margot A., Del Rey Jimenez, Juan C., Demmer, Laurie, Dsouza, Nikita R., Fleischer, Nicole, Gavrilova, Ralitza H., Ghate, Sumedha, Graf, Elisabeth, Green, Andrew, Green, Sarah R., Iascone, Maria, Kdissa, Ameni, Klee, Dirk, Klee, Eric W., Lancaster, Emily, Lindstrom, Kristin, Mayr, Johannes A., McEntagart, Meriel, Meeks, Naomi J. L., Mittag, Dana, Moore, Harrison, Olsen, Anne K., Ortiz, Damara, Parsons, Gretchen, Pena, Loren D. M., Person, Richard E., Punj, Sumit, Ramos-Rivera, Gonzalo Alonso, Sacoto, Maria J. Guillen, Bradley Schaefer, G., Schnur, Rhonda E., Scott, Tiana M., Scott, Daryl A., Serbinski, Carolyn R., Shashi, Vandana, Siu, Victoria M., Stadheim, Barbro Fossøy, Sullivan, Jennifer A., Švantnerová, Jana, Velsher, Lea, Wargowski, David S., Wentzensen, Ingrid M., Wieczorek, Dagmar, Winkelmann, Juliane, Yap, Patrick, Zech, Michael, Zimmermann, Michael T., Meitinger, Thomas, Distelmaier, Felix, Wagner, Matias
Publicado 2020

Gain and loss of TASK3 channel function and its regulation by novel variation cause KCNK9 imprinting syndrome

por Cousin, Margot A., Veale, Emma L., Dsouza, Nikita R., Tripathi, Swarnendu, Holden, Robyn G., Arelin, Maria, Beek, Geoffrey, Bekheirnia, Mir Reza, Beygo, Jasmin, Bhambhani, Vikas, Bialer, Martin, Bigoni, Stefania, Boelman, Cyrus, Carmichael, Jenny, Courtin, Thomas, Cogne, Benjamin, Dabaj, Ivana, Doummar, Diane, Fazilleau, Laura, Ferlini, Alessandra, Gavrilova, Ralitza H., Graham, John M., Haack, Tobias B., Juusola, Jane, Kant, Sarina G., Kayani, Saima, Keren, Boris, Ketteler, Petra, Klöckner, Chiara, Koopmann, Tamara T., Kruisselbrink, Teresa M., Kuechler, Alma, Lambert, Laëtitia, Latypova, Xénia, Lebel, Robert Roger, Leduc, Magalie S., Leonardi, Emanuela, Lewis, Andrea M., Liew, Wendy, Machol, Keren, Mardini, Samir, McWalter, Kirsty, Mignot, Cyril, McLaughlin, Julie, Murgia, Alessandra, Narayanan, Vinodh, Nava, Caroline, Neuser, Sonja, Nizon, Mathilde, Ognibene, Davide, Park, Joohyun, Platzer, Konrad, Poirsier, Céline, Radtke, Maximilian, Ramsey, Keri, Runke, Cassandra K., Guillen Sacoto, Maria J., Scaglia, Fernando, Shinawi, Marwan, Spranger, Stephanie, Tan, Ee Shien, Taylor, John, Trentesaux, Anne-Sophie, Vairo, Filippo, Willaert, Rebecca, Zadeh, Neda, Urrutia, Raul, Babovic-Vuksanovic, Dusica, Zimmermann, Michael T., Mathie, Alistair, Klee, Eric W.
Publicado 2022