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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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2
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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3
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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4
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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5
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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6
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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7
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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8
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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9
Beyond Ohdo syndrome: A familial missense mutation broadens the MED12 spectrum
Beyond Ohdo syndrome: A familial missense mutation broadens the MED12 spectrum
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Beyond Ohdo syndrome: A familial missense mutation broadens the MED12 spectrum

Langley, Katherine G. ; Brown, Jordan ; Gerber, Richard J. ; Fox, Janelle ; Friez, Michael J. ; Lyons, Michael ; Schrier Vergano, Samantha A.

American journal of medical genetics. Part A, 2015-12, Vol.167A (12), p.3180-3185 [Periódico revisado por pares]

United States: Blackwell Publishing Ltd

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10
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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