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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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2
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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3
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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4
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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5
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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6
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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7
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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