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1
Altered Gene-Regulatory Function of KDM5C by a Novel Mutation Associated With Autism and Intellectual Disability
Altered Gene-Regulatory Function of KDM5C by a Novel Mutation Associated With Autism and Intellectual Disability
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Altered Gene-Regulatory Function of KDM5C by a Novel Mutation Associated With Autism and Intellectual Disability

Vallianatos, Christina N ; Farrehi, Clara ; Friez, Michael J ; Burmeister, Margit ; Keegan, Catherine E ; Iwase, Shigeki

Frontiers in molecular neuroscience, 2018-04, Vol.11, p.104-104 [Periódico revisado por pares]

Switzerland: Frontiers Research Foundation

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2
Gene domain-specific DNA methylation episignatures highlight distinct molecular entities of ADNP syndrome
Gene domain-specific DNA methylation episignatures highlight distinct molecular entities of ADNP syndrome
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Gene domain-specific DNA methylation episignatures highlight distinct molecular entities of ADNP syndrome

Bend, Eric G ; Aref-Eshghi, Erfan ; Everman, David B ; Rogers, R Curtis ; Cathey, Sara S ; Prijoles, Eloise J ; Lyons, Michael J ; Davis, Heather ; Clarkson, Katie ; Gripp, Karen W ; Li, Dong ; Bhoj, Elizabeth ; Zackai, Elaine ; Mark, Paul ; Hakonarson, Hakon ; Demmer, Laurie A ; Levy, Michael A ; Kerkhof, Jennifer ; Stuart, Alan ; Rodenhiser, David ; Friez, Michael J ; Stevenson, Roger E ; Schwartz, Charles E ; Sadikovic, Bekim

Clinical epigenetics, 2019-04, Vol.11 (1), p.64-64, Article 64 [Periódico revisado por pares]

Germany: BioMed Central Ltd

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3
Three additional patients with EED-associated overgrowth: potential mutation hotspots identified?
Three additional patients with EED-associated overgrowth: potential mutation hotspots identified?
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Three additional patients with EED-associated overgrowth: potential mutation hotspots identified?

Spellicy, Catherine J ; Peng, Yunhui ; Olewiler, Leah ; Cathey, Sara S ; Rogers, R Curtis ; Bartholomew, Dennis ; Johnson, Jacob ; Alexov, Emil ; Lee, Jennifer A ; Friez, Michael J ; Jones, Julie R

Journal of human genetics, 2019-06, Vol.64 (6), p.561-572 [Periódico revisado por pares]

England: Nature Publishing Group

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4
Ten new cases further delineate the syndromic intellectual disability phenotype caused by mutations in DYRK1A
Ten new cases further delineate the syndromic intellectual disability phenotype caused by mutations in DYRK1A
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Ten new cases further delineate the syndromic intellectual disability phenotype caused by mutations in DYRK1A

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

European journal of human genetics : EJHG, 2015-04, Vol.23 (11), p.1482-1487 [Periódico revisado por pares]

England: Nature Publishing Group

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5
A recurrent mutation in MED12 leading to R961W causes Opitz-Kaveggia syndrome
A recurrent mutation in MED12 leading to R961W causes Opitz-Kaveggia syndrome
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A recurrent mutation in MED12 leading to R961W causes Opitz-Kaveggia syndrome

Friez, Michael J ; Risheg, Hiba ; Graham, John M ; Clark, Robin D ; Rogers, R Curtis ; Opitz, John M ; Moeschler, John B ; Peiffer, Andreas P ; May, Melanie ; Joseph, Sumy M ; Jones, Julie R ; Stevenson, Roger E ; Schwartz, Charles E

Nature genetics, 2007-04, Vol.39 (4), p.451-453 [Periódico revisado por pares]

London: Nature Publishing Group

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6
The original Lujan syndrome family has a novel missense mutation (p.N1007S) in the MED12 gene
The original Lujan syndrome family has a novel missense mutation (p.N1007S) in the MED12 gene
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The original Lujan syndrome family has a novel missense mutation (p.N1007S) in the MED12 gene

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

Journal of medical genetics, 2007-07, Vol.44 (7), p.472-477 [Periódico revisado por pares]

London: BMJ Publishing Group Ltd

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7
A mutation affecting the sodium/proton exchanger, SLC9A6, causes mental retardation with tau deposition
A mutation affecting the sodium/proton exchanger, SLC9A6, causes mental retardation with tau deposition
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A mutation affecting the sodium/proton exchanger, SLC9A6, causes mental retardation with tau deposition

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.

Brain (London, England : 1878), 2010-05, Vol.133 (5), p.1391-1402 [Periódico revisado por pares]

England: Oxford University Press

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8
CERT1 mutations perturb human development by disrupting sphingolipid homeostasis
CERT1 mutations perturb human development by disrupting sphingolipid homeostasis
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CERT1 mutations perturb human development by disrupting sphingolipid homeostasis

Gehin, Charlotte ; Lone, Museer A ; Lee, Winston ; Capolupo, Laura ; Ho, Sylvia ; Adeyemi, Adekemi M ; Gerkes, Erica H ; Stegmann, Alexander Pa ; López-Martín, Estrella ; Bermejo-Sánchez, Eva ; Martínez-Delgado, Beatriz ; Zweier, Christiane ; Kraus, Cornelia ; Popp, Bernt ; Strehlow, Vincent ; Gräfe, Daniel ; Knerr, Ina ; Jones, Eppie R ; Zamuner, Stefano ; Abriata, Luciano A ; Kunnathully, Vidya ; Moeller, Brandon E ; Vocat, Anthony ; Rommelaere, Samuel ; Bocquete, Jean-Philippe ; Ruchti, Evelyne ; Limoni, Greta ; Van Campenhoudt, Marine ; Bourgeat, Samuel ; Henklein, Petra ; Gilissen, Christian ; van Bon, Bregje W ; Pfundt, Rolph ; Willemsen, Marjolein H ; Schieving, Jolanda H ; Leonardi, Emanuela ; Soli, Fiorenza ; Murgia, Alessandra ; Guo, Hui ; Zhang, Qiumeng ; Xia, Kun ; Fagerberg, Christina R ; Beier, Christoph P ; Larsen, Martin J ; Valenzuela, Irene ; Fernández-Álvarez, Paula ; Xiong, Shiyi ; Śmigiel, Robert ; López-González, Vanesa ; Armengol, Lluís ; Morleo, Manuela ; Selicorni, Angelo ; Torella, Annalaura ; Blyth, Moira ; Cooper, Nicola S ; Wilson, Valerie ; Oegema, Renske ; Herenger, Yvan ; Garde, Aurore ; Bruel, Ange-Line ; Tran Mau-Them, Frederic ; Maddocks, Alexis Br ; Bain, Jennifer M ; Bhat, Musadiq A ; Costain, Gregory ; Kannu, Peter ; Marwaha, Ashish ; Champaigne, Neena L ; Friez, Michael J ; Richardson, Ellen B ; Gowda, Vykuntaraju K ; Srinivasan, Varunvenkat M ; Gupta, Yask ; Lim, Tze Y ; Sanna-Cherchi, Simone ; Lemaitre, Bruno ; Yamaji, Toshiyuki ; Hanada, Kentaro ; Burke, John E ; Jakšić, Ana Marjia ; McCabe, Brian D ; De Los Rios, Paolo ; Hornemann, Thorsten ; D'Angelo, Giovanni ; Gennarino, Vincenzo A

The Journal of clinical investigation, 2023-05, Vol.133 (10), p.1-16 [Periódico revisado por pares]

United States: American Society for Clinical Investigation

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9
Genetically Characterized Positive Control Cell Lines Derived from Residual Clinical Blood Samples
Genetically Characterized Positive Control Cell Lines Derived from Residual Clinical Blood Samples
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Genetically Characterized Positive Control Cell Lines Derived from Residual Clinical Blood Samples

Bernacki, Susan H ; Beck, Jeanne C ; Stankovic, Ana K ; Williams, Laurina O ; Amos, Jean ; Snow-Bailey, Karen ; Farkas, Daniel H ; Friez, Michael J ; Hantash, Feras M ; Matteson, Karla J ; Monaghan, Kristin G ; Muralidharan, Kasinathan ; Pratt, Victoria M ; Prior, Thomas W ; Richie, Kristy L ; Levin, Barbara C ; Rohlfs, Elizabeth M ; Schaefer, Frederick V ; Shrimpton, Antony E ; Spector, Elaine B ; Stolle, Catherine A ; Strom, Charles M ; Thibodeau, Stephen N ; Cole, Eugene C ; Goodman, Barbara K ; Stenzel, Timothy T

Clinical chemistry (Baltimore, Md.), 2005-11, Vol.51 (11), p.2013-2024 [Periódico revisado por pares]

Washington, DC: Am Assoc Clin Chem

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