Search Results - Mu, Weiyi

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  1. 1
    Two siblings with a novel variant of EXOSC3 extended phenotypic spectrum of pontocerebellar hypoplasia 1B to an exceptionally mild form

    Two siblings with a novel variant of EXOSC3 extended phenotypic spectrum of pontocerebellar hypoplasia 1B to an exceptionally mild form by Mu, Weiyi, Heller, Teresa, Barañano, Kristin W

    Published 2021
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  2. 2
    Eighteen-year-old man with autism, obsessive compulsive disorder and a SHANK2 variant presents with severe anorexia that responds to high-dose fluoxetine

    Eighteen-year-old man with autism, obsessive compulsive disorder and a SHANK2 variant presents with severe anorexia that responds to high-dose fluoxetine by Lu, Zhen A, Mu, Weiyi, Osborne, Lauren M, Cordner, Zachary A

    Published 2018
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  3. 3
    Intracranial calcifications and dystonia associated with a novel deletion of chromosome 8p11.2 encompassing SLC20A2 and THAP1

    Intracranial calcifications and dystonia associated with a novel deletion of chromosome 8p11.2 encompassing SLC20A2 and THAP1 by Mu, Weiyi, Tochen, Laura, Bertsch, Caroline, Singer, Harvey S, Barañano, Kristin W

    Published 2019
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  4. 4
    Magnetic Water Treatment: An Eco-Friendly Irrigation Alternative to Alleviate Salt Stress of Brackish Water in Seed Germination and Early Seedling Growth of Cotton (Gossypium hirsutum L.)

    Magnetic Water Treatment: An Eco-Friendly Irrigation Alternative to Alleviate Salt Stress of Brackish Water in Seed Germination and Early Seedling Growth of Cotton (Gossypium hirsu... by Zhang, Jihong, Wang, Quanjiu, Wei, Kai, Guo, Yi, Mu, Weiyi, Sun, Yan

    Published 2022
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  5. 5
    Experimental Investigation of the Different Polyacrylamide Dosages on Soil Water Movement under Brackish Water Infiltration

    Experimental Investigation of the Different Polyacrylamide Dosages on Soil Water Movement under Brackish Water Infiltration by Zhang, Jihong, Wang, Quanjiu, Mu, Weiyi, Wei, Kai, Guo, Yi, Sun, Yan

    Published 2022
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  6. 6
    Effect of Sodium Carboxymethyl Cellulose on Water and Salt Transport Characteristics of Saline–Alkali Soil in Xinjiang, China

    Effect of Sodium Carboxymethyl Cellulose on Water and Salt Transport Characteristics of Saline–Alkali Soil in Xinjiang, China by Zhang, Jihong, Wang, Quanjiu, Shan, Yuyang, Guo, Yi, Mu, Weiyi, Wei, Kai, Sun, Yan

    Published 2022
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  7. 7
    Relapsing–remitting clinical course expands the phenotype of Aicardi–Goutières syndrome

    Relapsing–remitting clinical course expands the phenotype of Aicardi–Goutières syndrome by Lambe, Jeffrey, Murphy, Olwen C., Mu, Weiyi, Sondergaard Schatz, Krista, Barañano, Kristin W., Venkatesan, Arun

    Published 2020
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  8. 8
    Pain and sleep quality in children with non-vascular Ehlers–Danlos syndromes

    Pain and sleep quality in children with non-vascular Ehlers–Danlos syndromes by Muriello, Michael, Clemens, Julia L., Mu, Weiyi, Tran, Phuong T., Rowe, Peter C., Smith, Christy H., Francomano, Clair, Bodurtha, Joann, Kline, Antonie D.

    Published 2018
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  9. 9
    Genotype–Phenotype Correlation of Congenital Anomalies in Multiple Congenital Anomalies Hypotonia Seizures Syndrome (MCAHS1)/ PIGN-Related Epilepsy

    Genotype–Phenotype Correlation of Congenital Anomalies in Multiple Congenital Anomalies Hypotonia Seizures Syndrome (MCAHS1)/ PIGN-Related Epilepsy by Fleming, Leah, Lemmon, Monica, Beck, Natalie, Johnson, Maria, Mu, Weiyi, Murdock, David, Bodurtha, Joann, Hoover-Fong, Julie, Cohn, Ronald, Bosemani, Thangamadhan, Barañano, Kristin, Hamosh, Ada

    Published 2015
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  10. 10
    Factors affecting quality of life in children and adolescents with hypermobile Ehlers-Danlos syndrome/hypermobility spectrum disorders

    Factors affecting quality of life in children and adolescents with hypermobile Ehlers-Danlos syndrome/hypermobility spectrum disorders by Mu, Weiyi, Muriello, Michael, Clemens, Julia L., Wang, You, Smith, Christy H., Tran, Phuong T., Rowe, Peter C., Francomano, Clair A., Kline, Antonie D., Bodurtha, Joann

    Published 2019
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  11. 11
    Transcription factor TFCP2L1 patterns cells in the mouse kidney collecting ducts

    Transcription factor TFCP2L1 patterns cells in the mouse kidney collecting ducts by Werth, Max, Schmidt-Ott, Kai M, Leete, Thomas, Qiu, Andong, Hinze, Christian, Viltard, Melanie, Paragas, Neal, Shawber, Carrie J, Yu, Wenqiang, Lee, Peter, Chen, Xia, Sarkar, Abby, Mu, Weiyi, Rittenberg, Alexander, Lin, Chyuan-Sheng, Kitajewski, Jan, Al-Awqati, Qais, Barasch, Jonathan

    Published 2017
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  12. 12
    De Novo Missense Variants in PPP1CB Are Associated with Intellectual Disabilities and Congenital Heart Disease

    De Novo Missense Variants in PPP1CB Are Associated with Intellectual Disabilities and Congenital Heart Disease by Ma, Lijiang, Bayram, Yavuz, McLaughlin, Heather M, Cho, Megan T, Krokosky, Alyson, Turner, Clesson E, Lindstrom, Kristin, Bupp, Caleb, Mayberry, Katey, Mu, Weiyi, Bodurtha, Joann, Weinstein, Veronique, Zadeh, Neda, Alcaraz, Wendy, Powis, Zöe, Shao, Yunru, Scott, Daryl A, Lewis, Andrea M, White, Janson J, Jhangiani, Shalani N, Gulec, Elif Yilmaz, Lalani, Seema R, Lupski, James R, Retterer, Kyle, Schnur, Rhonda E, Wentzensen, Ingrid, Bale, Sherri, Chung, Wendy K

    Published 2016
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  13. 13
    Linkage-specific deubiquitylation by OTUD5 defines an embryonic pathway intolerant to genomic variation

    Linkage-specific deubiquitylation by OTUD5 defines an embryonic pathway intolerant to genomic variation by Beck, David B., Basar, Mohammed A., Asmar, Anthony J., Thompson, Joyce J., Oda, Hirotsugu, Uehara, Daniela T., Saida, Ken, Pajusalu, Sander, Talvik, Inga, D’Souza, Precilla, Bodurtha, Joann, Mu, Weiyi, Barañano, Kristin W., Miyake, Noriko, Wang, Raymond, Kempers, Marlies, Tamada, Tomoko, Nishimura, Yutaka, Okada, Satoshi, Kosho, Tomoki, Dale, Ryan, Mitra, Apratim, Macnamara, Ellen, Matsumoto, Naomichi, Inazawa, Johji, Walkiewicz, Magdalena, Õunap, Katrin, Tifft, Cynthia J., Aksentijevich, Ivona, Kastner, Daniel L., Rocha, Pedro P., Werner, Achim

    Published 2021
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  14. 14
    Bioinformatics-Based Identification of Expanded Repeats: A Non-reference Intronic Pentamer Expansion in RFC1 Causes CANVAS

    Bioinformatics-Based Identification of Expanded Repeats: A Non-reference Intronic Pentamer Expansion in RFC1 Causes CANVAS by Rafehi, Haloom, Szmulewicz, David J., Bennett, Mark F., Sobreira, Nara L.M., Pope, Kate, Smith, Katherine R., Gillies, Greta, Diakumis, Peter, Dolzhenko, Egor, Eberle, Michael A., Barcina, María García, Breen, David P., Chancellor, Andrew M., Cremer, Phillip D., Delatycki, Martin B., Fogel, Brent L., Hackett, Anna, Halmagyi, G. Michael, Kapetanovic, Solange, Lang, Anthony, Mossman, Stuart, Mu, Weiyi, Patrikios, Peter, Perlman, Susan L., Rosemergy, Ian, Storey, Elsdon, Watson, Shaun R.D., Wilson, Michael A., Zee, David S., Valle, David, Amor, David J., Bahlo, Melanie, Lockhart, Paul J.

    Published 2019
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  15. 15
    Bi-allelic Variants in the GPI Transamidase Subunit PIGK Cause a Neurodevelopmental Syndrome with Hypotonia, Cerebellar Atrophy, and Epilepsy

    Bi-allelic Variants in the GPI Transamidase Subunit PIGK Cause a Neurodevelopmental Syndrome with Hypotonia, Cerebellar Atrophy, and Epilepsy by Nguyen, Thi Tuyet Mai, Murakami, Yoshiko, Mobilio, Sabrina, Niceta, Marcello, Zampino, Giuseppe, Philippe, Christophe, Moutton, Sébastien, Zaki, Maha S., James, Kiely N., Musaev, Damir, Mu, Weiyi, Baranano, Kristin, Nance, Jessica R., Rosenfeld, Jill A., Braverman, Nancy, Ciolfi, Andrea, Millan, Francisca, Person, Richard E., Bruel, Ange-Line, Thauvin-Robinet, Christel, Ververi, Athina, DeVile, Catherine, Male, Alison, Efthymiou, Stephanie, Maroofian, Reza, Houlden, Henry, Maqbool, Shazia, Rahman, Fatima, Baratang, Nissan V., Rousseau, Justine, St-Denis, Anik, Elrick, Matthew J., Anselm, Irina, Rodan, Lance H., Tartaglia, Marco, Gleeson, Joseph, Kinoshita, Taroh, Campeau, Philippe M.

    Published 2020
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  16. 16
    De Novo Variants in the ATPase Module of MORC2 Cause a Neurodevelopmental Disorder with Growth Retardation and Variable Craniofacial Dysmorphism

    De Novo Variants in the ATPase Module of MORC2 Cause a Neurodevelopmental Disorder with Growth Retardation and Variable Craniofacial Dysmorphism by Guillen Sacoto, Maria J., Tchasovnikarova, Iva A., Torti, Erin, Forster, Cara, Andrew, E. Hallie, Anselm, Irina, Baranano, Kristin W., Briere, Lauren C., Cohen, Julie S., Craigen, William J., Cytrynbaum, Cheryl, Ekhilevitch, Nina, Elrick, Matthew J., Fatemi, Ali, Fraser, Jamie L., Gallagher, Renata C., Guerin, Andrea, Haynes, Devon, High, Frances A., Inglese, Cara N., Kiss, Courtney, Koenig, Mary Kay, Krier, Joel, Lindstrom, Kristin, Marble, Michael, Meddaugh, Hannah, Moran, Ellen S., Morel, Chantal F., Mu, Weiyi, Muller, Eric A., Nance, Jessica, Natowicz, Marvin R., Numis, Adam L., Ostrem, Bridget, Pappas, John, Stafstrom, Carl E., Streff, Haley, Sweetser, David A., Szybowska, Marta, Walker, Melissa A., Wang, Wei, Weiss, Karin, Weksberg, Rosanna, Wheeler, Patricia G., Yoon, Grace, Kingston, Robert E., Juusola, Jane

    Published 2020
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  17. 17
    Novel variants in KAT6B spectrum of disorders expand our knowledge of clinical manifestations and molecular mechanisms

    Novel variants in KAT6B spectrum of disorders expand our knowledge of clinical manifestations and molecular mechanisms by Yabumoto, Megan, Kianmahd, Jessica, Singh, Meghna, Palafox, Maria F., Wei, Angela, Elliott, Kathryn, Goodloe, Dana H., Dean, S. Joy, Gooch, Catherine, Murray, Brianna K., Swartz, Erin, Schrier Vergano, Samantha A., Towne, Meghan C., Nugent, Kimberly, Roeder, Elizabeth R., Kresge, Christina, Pletcher, Beth A., Grand, Katheryn, Graham, John M., Gates, Ryan, Gomez‐Ospina, Natalia, Ramanathan, Subhadra, Clark, Robin Dawn, Glaser, Kimberly, Benke, Paul J., Cohen, Julie S., Fatemi, Ali, Mu, Weiyi, Baranano, Kristin W., Madden, Jill A., Gubbels, Cynthia S., Yu, Timothy W., Agrawal, Pankaj B., Chambers, Mary‐Kathryn, Phornphutkul, Chanika, Pugh, John A., Tauber, Kate A., Azova, Svetlana, Smith, Jessica R., O’Donnell‐Luria, Anne, Medsker, Hannah, Srivastava, Siddharth, Krakow, Deborah, Schweitzer, Daniela N., Arboleda, Valerie A.

    Published 2021
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