Recovery and Phylogenetic Analysis of nifH Sequences from Diazotrophic Bacteria Associated with Dead Aboveground Biomass of Spartina alterniflora

Por Lovell, Charles R., Friez, Michael J., Longshore, John W., Bagwell, Christopher E.
Publicado em 2001

MED12 mutations link intellectual disability syndromes with dysregulated GLI3-dependent Sonic Hedgehog signaling

Por Zhou, Haiying, Spaeth, Jason M., Kim, Nam Hee, Xu, Xuan, Friez, Michael J., Schwartz, Charles E., Boyer, Thomas G.
Publicado em 2012

Phenotype and Genotype in Mucolipidoses II and III alpha/beta: A Study of 61 Probands

Por Cathey, Sara S., Leroy, Jules G., Wood, Tim, Eaves, Karisa, Simensen, Richard J., Kudo, Mariko, Stevenson, Roger E., Friez, Michael J.
Publicado em 2009

A novel intermediate mucolipidosis II/IIIαβ caused by GNPTAB mutation in the cytosolic N-terminal domain

Por Leroy, Jules G, Sillence, David, Wood, Tim, Barnes, Jarrod, Lebel, Robert Roger, Friez, Michael J, Stevenson, Roger E, Steet, Richard, Cathey, Sara S
Publicado em 2014

Clinical utility of chromosomal microarray analysis in the diagnosis and management of monosomy 7 mosaicism

Por Dwivedi, Alka Chaubey nee, Lyons, Michael J, Kwiatkowski, Kat, Bartel, Frank O, Friez, Michael J, Holden, Kenton R, Fung, Eric T, DuPont, Barbara R
Publicado no Mol Cytogenet (2014)

Importance of genetic testing in global health during the evaluation of familial microcephaly

Por Molinero, Isaac, Broman‐Fulks, Jordan, Lyons, Michael J., Matheus, Maria Gisele, Chaubey, Alka, DuPont, Barbara R., Friez, Michael J., Skinner, Steve A., Holden, Kenton R.
Publicado no Clin Case Rep (2016)

Mediator Links Epigenetic Silencing of Neuronal Gene Expression with X-Linked Mental Retardation

Por Ding, Ning, Zhou, Haiying, Esteve, Pierre-Olivier, Chin, Hang Gyeong, Kim, Seokjoong, Xu, Xuan, Joseph, Sumy M., Friez, Michael J., Schwartz, Charles E., Pradhan, Sriharsa, Boyer, Thomas G.
Publicado em 2008

ACMG clinical laboratory standards for next-generation sequencing

Por Rehm, Heidi L., Bale, Sherri J, Bayrak-Toydemir, Pinar, Berg, Jonathan S, Brown, Kerry K, Deignan, Joshua L, Friez, Michael J, Funke, Birgit H, Hegde, Madhuri R, Lyon, Elaine
Publicado em 2013

A mutation affecting the sodium/proton exchanger, SLC9A6, causes mental retardation with tau deposition

Por Garbern, James Y., Neumann, Manuela, Trojanowski, John Q., Lee, Virginia M.-Y., Feldman, Gerald, Norris, Joy W., Friez, Michael J., Schwartz, Charles E., Stevenson, Roger, Sima, Anders A. F.
Publicado em 2010

Natural History of Christianson Syndrome

Por Schroer, Richard J., Holden, Kenton R., Tarpey, Patrick S., Matheus, Maria Giselle, Griesemer, David A., Friez, Michael J., Fan, Jane Zheng, Simensen, Richard J., Strømme, Petter, Stevenson, Roger E., Stratton, Michael R., Schwartz, Charles E.
Publicado em 2010

Behavior of 10 patients with FG Syndrome (Opitz-Kaveggia Syndrome) and the p.R961W Mutation in the MED12 Gene

Por Graham, John M, Visootsak, Jeannie, Dykens, Elisabeth, Huddleston, Lillie, Clark, Robin D, Jones, Kenneth L, Moeschler, John B, Opitz, John M, Morford, Jackie, Simensen, Richard, Rogers, R. Curtis, Schwartz, Charles E, Friez, Michael J, Stevenson, Roger E
Publicado em 2008

Enrichment of mutations in chromatin regulators in people with Rett Syndrome lacking mutations in MECP2

Por Sajan, Samin A., Jhangiani, Shalini N., Muzny, Donna M., Gibbs, Richard A., Lupski, James R., Glaze, Daniel G., Kaufmann, Walter E., Skinner, Steven A., Anese, Fran, Friez, Michael J., Jane, Lane, Percy, Alan K., Neul, Jeffrey L.
Publicado no Genet Med (2016)

FG syndrome, an X-linked multiple congenital anomaly syndrome: The clinical phenotype and an algorithm for diagnostic testing

Por Clark, Robin Dawn, Graham, John M., Friez, Michael J., Hoo, Joe J., Jones, Kenneth Lyons, McKeown, Carole, Moeschler, John B., Raymond, F. Lucy, Rogers, R. Curtis, Schwartz, Charles E., Battaglia, Agatino, Lyons, Michael J., Stevenson, Roger E.
Publicado em 2009

Nonrecurrent MECP2 duplications mediated by genomic architecture-driven DNA breaks and break-induced replication repair

Por Bauters, Marijke, Van Esch, Hilde, Friez, Michael J., Boespflug-Tanguy, Odile, Zenker, Martin, Vianna-Morgante, Angela M., Rosenberg, Carla, Ignatius, Jaakko, Raynaud, Martine, Hollanders, Karen, Govaerts, Karen, Vandenreijt, Kris, Niel, Florence, Blanc, Pierre, Stevenson, Roger E., Fryns, Jean-Pierre, Marynen, Peter, Schwartz, Charles E., Froyen, Guy
Publicado em 2008

Ten new cases further delineate the syndromic intellectual disability phenotype caused by mutations in DYRK1A

Por Bronicki, Lucas M, Redin, Claire, Drunat, Severine, Piton, Amélie, Lyons, Michael, Passemard, Sandrine, Baumann, Clarisse, Faivre, Laurence, Thevenon, Julien, Rivière, Jean-Baptiste, Isidor, Bertrand, Gan, Grace, Francannet, Christine, Willems, Marjolaine, Gunel, Murat, Jones, Julie R, Gleeson, Joseph G, Mandel, Jean-Louis, Stevenson, Roger E, Friez, Michael J, Aylsworth, Arthur S
Publicado no Eur J Hum Genet (2015)

The original Lujan syndrome family has a novel missense mutation (p.N1007S) in the MED12 gene

Por Schwartz, Charles E, Tarpey, Patrick S, Lubs, Herbert A, Verloes, Alain, May, Melanie M, Risheg, Hiba, Friez, Michael J, Futreal, P Andrew, Edkins, Sarah, Teague, Jon, Briault, Sylvain, Skinner, Cindy, Bauer‐Carlin, Astrid, Simensen, Richard J, Joseph, Sumy M, Jones, Julie R, Gecz, Josef, Stratton, Michael R, Raymond, F Lucy, Stevenson, Roger E
Publicado em 2007

HUWE1 mutations in Juberg-Marsidi and Brooks syndromes: the results of an X-chromosome exome sequencing study

Por Friez, Michael J, Brooks, Susan Sklower, Stevenson, Roger E, Field, Michael, Basehore, Monica J, Adès, Lesley C, Sebold, Courtney, McGee, Stephen, Saxon, Samantha, Skinner, Cindy, Craig, Maria E, Murray, Lucy, Simensen, Richard J, Yap, Ying Yzu, Shaw, Marie A, Gardner, Alison, Corbett, Mark, Kumar, Raman, Bosshard, Matthias, van Loon, Barbara, Tarpey, Patrick S, Abidi, Fatima, Gecz, Jozef, Schwartz, Charles E
Publicado no BMJ Open (2016)

Clinical and Genetic Characterization of Manifesting Carriers of DMD Mutations

Por Soltanzadeh, Payam, Friez, Michael J., Dunn, Diane, von Niederhausern, Andrew, Gurvich, Olga L., Swoboda, Kathryn J., Sampson, Jacinda B., Pestronk, Alan, Connolly, Anne M., Florence, Julaine M., Finkel, Richard S., Bönnemann, Carsten G., Medne, Livija, Mendell, Jerry R., Mathews, Katherine D., Wong, Brenda L., Sussman, Michael D., Zonana, Jonathan, Kovak, Karen, Gospe, Sidney M., Gappmaier, Eduard, Taylor, Laura E., Howard, Michael T., Weiss, Robert B., Flanigan, Kevin M.
Publicado em 2010