Striated preferentially expressed gene deficiency leads to mitochondrial dysfunction in developing cardiomyocytes
Li, Gu, Huang, He, Wu, Yanshuang, Shu, Chang, Hwang, Narae, Li, Qifei, Zhao, Rose, Lam, Hilaire C., Oldham, William M., EI-Chemaly, Souheil, Agrawal, Pankaj B., Tian, Jie, Liu, Xiaoli, Perrella, Mark A.
Published in Basic research in cardiology (01.02.2024)
Published in Basic research in cardiology (01.02.2024)
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Journal Article
Normal myofibrillar development followed by progressive sarcomeric disruption with actin accumulations in a mouse Cfl2 knockout demonstrates requirement of cofilin-2 for muscle maintenance
AGRAWAL, Pankaj B, JOSHI, Mugdha, SAVIC, Talia, ZOE CHEN, BEGGS, Alan H
Published in Human molecular genetics (15.05.2012)
Published in Human molecular genetics (15.05.2012)
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Journal Article
Ethical implications of early genetic diagnosis in an infant with Lesch–Nyhan syndrome
Zhang, Tian, Briere, Julie M., Leeman, Kristen T., Wojcik, Monica H., Agrawal, Pankaj B.
Published in Journal of genetic counseling (01.12.2022)
Published in Journal of genetic counseling (01.12.2022)
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Journal Article
Parental interest in genomic sequencing of newborns: enrollment experience from the BabySeq Project
Genetti, Casie A, Schwartz, Talia S, Robinson, Jill O, VanNoy, Grace E, Petersen, Devan, Pereira, Stacey, Fayer, Shawn, Peoples, Hayley A, Agrawal, Pankaj B, Betting, Wendi N, Holm, Ingrid A, McGuire, Amy L, Waisbren, Susan E, Yu, Timothy W, Green, Robert C, Beggs, Alan H, Parad, Richard B
Published in Genetics in medicine (01.03.2019)
Published in Genetics in medicine (01.03.2019)
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Journal Article
Rare EIF4A2 variants are associated with a neurodevelopmental disorder characterized by intellectual disability, hypotonia, and epilepsy
Paul, Maimuna S., Duncan, Anna R., Genetti, Casie A., Pan, Hongling, Jackson, Adam, Grant, Patricia E., Shi, Jiahai, Pinelli, Michele, Brunetti-Pierri, Nicola, Garza-Flores, Alexandra, Shahani, Dave, Saneto, Russell P., Zampino, Giuseppe, Leoni, Chiara, Agolini, Emanuele, Novelli, Antonio, Blümlein, Ulrike, Haack, Tobias B., Heinritz, Wolfram, Matzker, Eva, Alhaddad, Bader, Abou Jamra, Rami, Bartolomaeus, Tobias, AlHamdan, Saber, Carapito, Raphael, Isidor, Bertrand, Bahram, Seiamak, Ritter, Alyssa, Izumi, Kosuke, Shakked, Ben Pode, Barel, Ortal, Ben Zeev, Bruria, Begtrup, Amber, Carere, Deanna Alexis, Mullegama, Sureni V., Palculict, Timothy Blake, Calame, Daniel G., Schwan, Katharina, Aycinena, Alicia R.P., Traberg, Rasa, Douzgou, Sofia, Pirt, Harrison, Ismayilova, Naila, Banka, Siddharth, Chao, Hsiao-Tuan, Agrawal, Pankaj B.
Published in American journal of human genetics (05.01.2023)
Published in American journal of human genetics (05.01.2023)
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Journal Article
Novel SPEG mutations in congenital myopathies: Genotype–phenotype correlations
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.
Published in Muscle & nerve (01.03.2019)
Published in Muscle & nerve (01.03.2019)
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Journal Article
Etiology and Outcome of non-immune Hydrops Fetalis in Southern China: report of 1004 cases
Meng, Dahua, Li, Qifei, Hu, Xuehua, Wang, Lifang, Tan, Shuyin, Su, Jiasun, Zhang, Yue, Sun, Weijia, Chen, Biyan, He, Sheng, Lin, Fei, Xie, Bobo, Chen, Shaoke, Agrawal, Pankaj B, Luo, Shiyu, Fu, Chunyun
Published in Scientific reports (24.07.2019)
Published in Scientific reports (24.07.2019)
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Journal Article
Genomic testing and molecular diagnosis among infants with congenital heart disease in the neonatal intensive care unit
D’Souza, Erica E., Findley, Tina O., Hu, Rachel, Khazal, Zahra S. H., Signorello, Rachel, Dash, Camille, D’Gama, Alissa M., Feldman, Henry A., Agrawal, Pankaj B., Wojcik, Monica H., Morton, Sarah U.
Published in Journal of perinatology (01.08.2024)
Published in Journal of perinatology (01.08.2024)
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Journal Article
Novel founder intronic variant in SLC39A14 in two families causing Manganism and potential treatment strategies
Rodan, Lance H., Hauptman, Marissa, D'Gama, Alissa M., Qualls, Anita E., Cao, Siqi, Tuschl, Karin, Al-Jasmi, Fatma, Hertecant, Jozef, Hayflick, Susan J., Wessling-Resnick, Marianne, Yang, Edward T., Berry, Gerard T., Gropman, Andrea, Woolf, Alan D., Agrawal, Pankaj B.
Published in Molecular genetics and metabolism (01.06.2018)
Published in Molecular genetics and metabolism (01.06.2018)
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Journal Article
Genetic and phenotypic dissection of 1q43q44 microdeletion syndrome and neurodevelopmental phenotypes associated with mutations in ZBTB18 and HNRNPU
Depienne, Christel, Nava, Caroline, Keren, Boris, Heide, Solveig, Rastetter, Agnès, Passemard, Sandrine, Chantot-Bastaraud, Sandra, Moutard, Marie-Laure, Agrawal, Pankaj B., VanNoy, Grace, Stoler, Joan M., Amor, David J., Billette de Villemeur, Thierry, Doummar, Diane, Alby, Caroline, Cormier-Daire, Valérie, Garel, Catherine, Marzin, Pauline, Scheidecker, Sophie, de Saint-Martin, Anne, Hirsch, Edouard, Korff, Christian, Bottani, Armand, Faivre, Laurence, Verloes, Alain, Orzechowski, Christine, Burglen, Lydie, Leheup, Bruno, Roume, Joelle, Andrieux, Joris, Sheth, Frenny, Datar, Chaitanya, Parker, Michael J., Pasquier, Laurent, Odent, Sylvie, Naudion, Sophie, Delrue, Marie-Ange, Le Caignec, Cédric, Vincent, Marie, Isidor, Bertrand, Renaldo, Florence, Stewart, Fiona, Toutain, Annick, Koehler, Udo, Häckl, Birgit, von Stülpnagel, Celina, Kluger, Gerhard, Møller, Rikke S., Pal, Deb, Jonson, Tord, Soller, Maria, Verbeek, Nienke E., van Haelst, Mieke M., de Kovel, Carolien, Koeleman, Bobby, Monroe, Glen, van Haaften, Gijs, Attié-Bitach, Tania, Boutaud, Lucile, Héron, Delphine, Mignot, Cyril
Published in Human genetics (01.04.2017)
Published in Human genetics (01.04.2017)
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Journal Article
Homozygous EEF1A2 mutation causes dilated cardiomyopathy, failure to thrive, global developmental delay, epilepsy and early death
Cao, Siqi, Smith, Laura L, Padilla-Lopez, Sergio R, Guida, Brandon S, Blume, Elizabeth, Shi, Jiahai, Morton, Sarah U, Brownstein, Catherine A, Beggs, Alan H, Kruer, Michael C, Agrawal, Pankaj B
Published in Human molecular genetics (15.09.2017)
Published in Human molecular genetics (15.09.2017)
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Journal Article
KCTD7 deficiency defines a distinct neurodegenerative disorder with a conserved autophagy‐lysosome defect
Metz, Kyle A., Teng, Xinchen, Coppens, Isabelle, Lamb, Heather M., Wagner, Bart E., Rosenfeld, Jill A., Chen, Xianghui, Zhang, Yu, Kim, Hee Jong, Meadow, Michael E., Wang, Tim Sen, Haberlandt, Edda D., Anderson, Glenn W., Leshinsky‐Silver, Esther, Bi, Weimin, Markello, Thomas C., Pratt, Marsha, Makhseed, Nawal, Garnica, Adolfo, Danylchuk, Noelle R., Burrow, Thomas A., Jayakar, Parul, McKnight, Dianalee, Agadi, Satish, Gbedawo, Hatha, Stanley, Christine, Alber, Michael, Prehl, Isabelle, Peariso, Katrina, Ong, Min Tsui, Mordekar, Santosh R., Parker, Michael J., Crooks, Daniel, Agrawal, Pankaj B., Berry, Gerard T., Loddenkemper, Tobias, Yang, Yaping, Maegawa, Gustavo H. B., Aouacheria, Abdel, Markle, Janet G., Wohlschlegel, James A., Hartman, Adam L., Hardwick, J. Marie
Published in Annals of neurology (01.11.2018)
Published in Annals of neurology (01.11.2018)
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Journal Article
Exome copy number variant detection, analysis, and classification in a large cohort of families with undiagnosed rare genetic disease
Lemire, Gabrielle, Sanchis-Juan, Alba, Russell, Kathryn, Baxter, Samantha, Chao, Katherine R., Singer-Berk, Moriel, Groopman, Emily, Wong, Isaac, England, Eleina, Goodrich, Julia, Pais, Lynn, Austin-Tse, Christina, DiTroia, Stephanie, O’Heir, Emily, Ganesh, Vijay S., Wojcik, Monica H., Evangelista, Emily, Snow, Hana, Osei-Owusu, Ikeoluwa, Fu, Jack, Singh, Mugdha, Mostovoy, Yulia, Huang, Steve, Garimella, Kiran, Kirkham, Samantha L., Neil, Jennifer E., Shao, Diane D., Walsh, Christopher A., Argilli, Emanuela, Le, Carolyn, Sherr, Elliott H., Gleeson, Joseph G., Shril, Shirlee, Schneider, Ronen, Hildebrandt, Friedhelm, Sankaran, Vijay G., Madden, Jill A., Genetti, Casie A., Beggs, Alan H., Agrawal, Pankaj B., Bujakowska, Kinga M., Place, Emily, Pierce, Eric A., Donkervoort, Sandra, Bönnemann, Carsten G., Gallacher, Lyndon, Stark, Zornitza, Tan, Tiong Yang, White, Susan M., Töpf, Ana, Straub, Volker, Fleming, Mark D., Pollak, Martin R., Õunap, Katrin, Pajusalu, Sander, Donald, Kirsten A., Bruwer, Zandre, Ravenscroft, Gianina, Laing, Nigel G., MacArthur, Daniel G., Rehm, Heidi L., Talkowski, Michael E., Brand, Harrison, O’Donnell-Luria, Anne
Published in American journal of human genetics (02.05.2024)
Published in American journal of human genetics (02.05.2024)
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Journal Article
Connective tissue growth factor causes EMT-like cell fate changes in vivo and in vitro
Sonnylal, Sonali, Xu, Shiwen, Jones, Helen, Tam, Angela, Sreeram, Vivek R, Ponticos, Markella, Norman, Jill, Agrawal, Pankaj, Abraham, David, de Crombrugghe, Benoit
Published in Journal of cell science (15.05.2013)
Published in Journal of cell science (15.05.2013)
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Journal Article
Drosophila functional screening of de novo variants in autism uncovers damaging variants and facilitates discovery of rare neurodevelopmental diseases
Marcogliese, Paul C., Deal, Samantha L., Andrews, Jonathan, Harnish, J. Michael, Bhavana, V. Hemanjani, Graves, Hillary K., Jangam, Sharayu, Luo, Xi, Liu, Ning, Bei, Danqing, Chao, Yu-Hsin, Hull, Brooke, Lee, Pei-Tseng, Pan, Hongling, Bhadane, Pradnya, Huang, Mei-Chu, Longley, Colleen M., Chao, Hsiao-Tuan, Chung, Hyung-lok, Haelterman, Nele A., Kanca, Oguz, Manivannan, Sathiya N., Rossetti, Linda Z., German, Ryan J., Gerard, Amanda, Schwaibold, Eva Maria Christina, Fehr, Sarah, Guerrini, Renzo, Vetro, Annalisa, England, Eleina, Murali, Chaya N., Barakat, Tahsin Stefan, van Dooren, Marieke F., Wilke, Martina, van Slegtenhorst, Marjon, Lesca, Gaetan, Sabatier, Isabelle, Chatron, Nicolas, Brownstein, Catherine A., Madden, Jill A., Agrawal, Pankaj B., Keren, Boris, Courtin, Thomas, Perrin, Laurence, Brugger, Melanie, Roser, Timo, Leiz, Steffen, Mau-Them, Frederic Tran, Delanne, Julian, Sukarova-Angelovska, Elena, Trajkova, Slavica, Rosenhahn, Erik, Strehlow, Vincent, Platzer, Konrad, Keller, Roberto, Pavinato, Lisa, Brusco, Alfredo, Rosenfeld, Jill A., Marom, Ronit, Wangler, Michael F., Yamamoto, Shinya
Published in Cell reports (Cambridge) (15.03.2022)
Published in Cell reports (Cambridge) (15.03.2022)
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Journal Article
Novel variants in the stem cell niche factor WNT2B define the disease phenotype as a congenital enteropathy with ocular dysgenesis
Zhang, Yanjia Jason, Jimenez, Lissette, Azova, Svetlana, Kremen, Jessica, Chan, Yee-Ming, Elhusseiny, Abdelrahman M, Saeed, Hajirah, Goldsmith, Jeffrey, Al-Ibraheemi, Alyaa, O'Connell, Amy E, Kovbasnjuk, Olga, Rodan, Lance, Agrawal, Pankaj B, Thiagarajah, Jay R
Published in European journal of human genetics : EJHG (01.06.2021)
Published in European journal of human genetics : EJHG (01.06.2021)
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Journal Article
Neonatal-Onset Chronic Diarrhea Caused by Homozygous Nonsense WNT2B Mutations
O’Connell, Amy E., Zhou, Fanny, Shah, Manasvi S., Murphy, Quinn, Rickner, Hannah, Kelsen, Judith, Boyle, John, Doyle, Jefferson J., Gangwani, Bharti, Thiagarajah, Jay R., Kamin, Daniel S., Goldsmith, Jeffrey D., Richmond, Camilla, Breault, David T., Agrawal, Pankaj B.
Published in American journal of human genetics (05.07.2018)
Published in American journal of human genetics (05.07.2018)
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