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Expression of nifH genes by diazotrophic bacteria in the rhizosphere of short form Spartina alterniflora
Expression of nifH genes by diazotrophic bacteria in the rhizosphere of short form Spartina alterniflora
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Expression of nifH genes by diazotrophic bacteria in the rhizosphere of short form Spartina alterniflora

Brown, M.M ; Friez, M.J ; Lovell, C.R

FEMS microbiology ecology, 2003-04, Vol.43 (3), p.411-417 [Periódico revisado por pares]

Oxford, UK: Blackwell Publishing Ltd

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2
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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3
Recurrent Infections, Hypotonia, and Mental Retardation Caused by Duplication of MECP2 and Adjacent Region in Xq28
Recurrent Infections, Hypotonia, and Mental Retardation Caused by Duplication of MECP2 and Adjacent Region in Xq28
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Recurrent Infections, Hypotonia, and Mental Retardation Caused by Duplication of MECP2 and Adjacent Region in Xq28

Friez, Michael J ; Jones, Julie R ; Clarkson, Katie ; Lubs, Herbert ; Abuelo, Dianne ; Bier, Jo-Ann Blaymore ; Pai, Shashidhar ; Simensen, Richard ; Williams, Charles ; Giampietro, Philip F ; Schwartz, Charles E ; Stevenson, Roger E

Pediatrics (Evanston), 2006-12, Vol.118 (6), p.e1687-e1695 [Periódico revisado por pares]

United States: Am Acad Pediatrics

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4
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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5
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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6
Nonrecurrent MECP2 duplications mediated by genomic architecture-driven DNA breaks and break-induced replication repair
Nonrecurrent MECP2 duplications mediated by genomic architecture-driven DNA breaks and break-induced replication repair
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Nonrecurrent MECP2 duplications mediated by genomic architecture-driven DNA breaks and break-induced replication repair

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

Genome Research, 2008-06, Vol.18 (6), p.847-858 [Periódico revisado por pares]

United States: Cold Spring Harbor Laboratory Press

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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
Clinical and genetic characterization of manifesting carriers of DMD mutations
Clinical and genetic characterization of manifesting carriers of DMD mutations
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Clinical and genetic characterization of manifesting carriers of DMD mutations

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

Neuromuscular disorders : NMD, 2010-08, Vol.20 (8), p.499-504 [Periódico revisado por pares]

England: Elsevier B.V

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9
Natural history of Christianson syndrome
Natural history of Christianson syndrome
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Natural history of Christianson syndrome

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.

American journal of medical genetics. Part A, 2010-11, Vol.152A (11), p.2775-2783 [Periódico revisado por pares]

Hoboken: Wiley Subscription Services, Inc., A Wiley Company

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10
ACMG clinical laboratory standards for next-generation sequencing
ACMG clinical laboratory standards for next-generation sequencing
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ACMG clinical laboratory standards for next-generation sequencing

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

Genetics in medicine, 2013-09, Vol.15 (9), p.733-747 [Periódico revisado por pares]

United States: Elsevier Inc

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