Coronary artery disease in a Werner syndrome-like form of progeria characterized by low levels of progerin, a splice variant of lamin A
Hisama, Fuki M., Lessel, Davor, Leistritz, Dru, Friedrich, Katrin, McBride, Kim L., Pastore, Matthew T., Gottesman, Gary S., Saha, Bidisha, Martin, George M., Kubisch, Christian, Oshima, Junko
Published in American journal of medical genetics. Part A (01.12.2011)
Published in American journal of medical genetics. Part A (01.12.2011)
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Journal Article
Characterization of the renal phenotype in RMND1‐related mitochondrial disease
Shayota, Brian J., Le, Nhon T., Bekheirnia, Nasim, Rosenfeld, Jill A., Goldstein, Amy C., Moritz, Michael, Bartholomew, Dennis W., Pastore, Matthew T., Xia, Fan, Eng, Christine, Yang, Yaping, Lamb, Dolores J., Scaglia, Fernando, Braun, Michael C., Bekheirnia, Mir Reza
Published in Molecular genetics & genomic medicine (01.12.2019)
Published in Molecular genetics & genomic medicine (01.12.2019)
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Journal Article
Confirmation study of PTEN mutations among individuals with autism or developmental delays/mental retardation and macrocephaly
McBride, Kim L, Varga, Elizabeth A, Pastore, Matthew T, Prior, Thomas W, Manickam, Kandamurugu, Atkin, Joan F, Herman, Gail E
Published in Autism research (01.06.2010)
Published in Autism research (01.06.2010)
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Clinically severe CACNA1A alleles affect synaptic function and neurodegeneration differentially
Luo, Xi, Rosenfeld, Jill A, Yamamoto, Shinya, Harel, Tamar, Zuo, Zhongyuan, Hall, Melissa, Wierenga, Klaas J, Pastore, Matthew T, Bartholomew, Dennis, Delgado, Mauricio R, Rotenberg, Joshua, Lewis, Richard Alan, Emrick, Lisa, Bacino, Carlos A, Eldomery, Mohammad K, Coban Akdemir, Zeynep, Xia, Fan, Yang, Yaping, Lalani, Seema R, Lotze, Timothy, Lupski, James R, Lee, Brendan, Bellen, Hugo J, Wangler, Michael F
Published in PLoS genetics (24.07.2017)
Published in PLoS genetics (24.07.2017)
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Journal Article
SRD5A3-CDG: Expanding the phenotype of a congenital disorder of glycosylation with emphasis on adult onset features
Wheeler, Patricia G., Ng, Bobby G., Sanford, Laura, Sutton, V. Reid, Bartholomew, Dennis W., Pastore, Matthew T., Bamshad, Michael J., Kircher, Martin, Buckingham, Kati J., Nickerson, Deborah A., Shendure, Jay, Freeze, Hudson H.
Published in American journal of medical genetics. Part A (01.12.2016)
Published in American journal of medical genetics. Part A (01.12.2016)
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Journal Article
A Transgene Carrying an A2G Missense Mutation in the SMN Gene Modulates Phenotypic Severity in Mice with Severe (Type I) Spinal Muscular Atrophy
Monani, Umrao R., Pastore, Matthew T., Gavrilina, Tatiana O., Jablonka, Sibylle, Le, Thanh T., Andreassi, Catia, DiCocco, Jennifer M., Lorson, Christian, Androphy, Elliot J., Sendtner, Michael, Podell, Michael, Arthur H. M. Burghes
Published in The Journal of cell biology (06.01.2003)
Published in The Journal of cell biology (06.01.2003)
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Journal Article
Diagnosis and Treatment of Cystic Fibrosis: A (Not-so) Simple Recessive Condition
Raraigh, Karen S., Pastore, Matthew T., Greene, Lisa, Karczeski, Barbara A., Fisher, Laura K., Ramsey, Bonnie W., Langfelder-Schwind, Elinor
Published in Current genetic medicine reports (2017)
Published in Current genetic medicine reports (2017)
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Journal Article
A novel exon duplication of the cystic fibrosis transmembrane conductance regulator in a patient presenting with adult-onset recurrent pancreatitis
Kopp, Benjamin T, Pastore, Matthew T, Sturm, Amy C, Holtzlander, Melissa J, Westman, Judith A
Published in Pancreas (01.07.2011)
Published in Pancreas (01.07.2011)
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Journal Article
Expanding the phenotypic spectrum of CSNK2A1-associated Okur-Chung neurodevelopmental syndrome
Ramadesikan, Swetha, Showpnil, Iftekhar A., Marhabaie, Mohammad, Daley, Allison, Varga, Elizabeth A., Gurusamy, Umamaheswaran, Pastore, Matthew T., Sites, Emily R., Manickam, Murugu, Bartholomew, Dennis W., Hunter, Jesse M., White, Peter, Wilson, Richard K., Stottmann, Rolf W., Koboldt, Daniel C.
Published in HGG advances (01.11.2024)
Published in HGG advances (01.11.2024)
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Journal Article
Neurodevelopmental disorders among individuals with duplication of 4p13 to 4p12 containing a GABA sub(A) receptor subunit gene cluster
Polan, Michelle B, Pastore, Matthew T, Steingass, Katherine, Hashimoto, Sayaka, Thrush, Devon L, Pyatt, Robert, Reshmi, Shalini, Gastier-Foster, Julie M, Astbury, Caroline, McBride, Kim L
Published in European journal of human genetics : EJHG (01.01.2014)
Published in European journal of human genetics : EJHG (01.01.2014)
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Journal Article
Neurodevelopmental disorders among individuals with duplication of 4p13 to 4p12 containing a GABAA receptor subunit gene cluster
Polan, Michelle B, Pastore, Matthew T, Steingass, Katherine, Hashimoto, Sayaka, Thrush, Devon L, Pyatt, Robert, Reshmi, Shalini, Gastier-Foster, Julie M, Astbury, Caroline, McBride, Kim L
Published in European journal of human genetics : EJHG (01.01.2014)
Published in European journal of human genetics : EJHG (01.01.2014)
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