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1
Clinical epigenomics: genome-wide DNA methylation analysis for the diagnosis of Mendelian disorders
Clinical epigenomics: genome-wide DNA methylation analysis for the diagnosis of Mendelian disorders
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Clinical epigenomics: genome-wide DNA methylation analysis for the diagnosis of Mendelian disorders

Sadikovic, Bekim ; Levy, Michael A. ; Kerkhof, Jennifer ; Aref-Eshghi, Erfan ; Schenkel, Laila ; Stuart, Alan ; McConkey, Haley ; Henneman, Peter ; Venema, Andrea ; Schwartz, Charles E. ; Stevenson, Roger E. ; Skinner, Steven A. ; DuPont, Barbara R. ; Fletcher, Robin S. ; Balci, Tugce B. ; Siu, Victoria Mok ; Granadillo, Jorge L. ; Masters, Jennefer ; Kadour, Mike ; Friez, Michael J. ; van Haelst, Mieke M. ; Mannens, Marcel M.A.M. ; Louie, Raymond J. ; Lee, Jennifer A. ; Tedder, Matthew L. ; Alders, Marielle

Genetics in medicine, 2021-06, Vol.23 (6), p.1065-1074 [Periódico revisado por pares]

United States: Elsevier Inc

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2
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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3
Ovarian Transplantation between Monozygotic Twins Discordant for Premature Ovarian Failure
Ovarian Transplantation between Monozygotic Twins Discordant for Premature Ovarian Failure
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Ovarian Transplantation between Monozygotic Twins Discordant for Premature Ovarian Failure

Silber, Sherman J ; Lenahan, Kathleen M ; Levine, David J ; Pineda, Jorge A ; Gorman, Kim S ; Friez, Michael J ; Crawford, Eric C ; Gosden, Roger G

The New England journal of medicine, 2005-07, Vol.353 (1), p.58-63 [Periódico revisado por pares]

Boston, MA: Massachusetts Medical Society

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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
Attention: Direct-To-Consumer patrons: Proceed with caution
Attention: Direct-To-Consumer patrons: Proceed with caution
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Attention: Direct-To-Consumer patrons: Proceed with caution

Friez, Michael J.

Genetics in medicine, 2018-12, Vol.20 (12), p.1508-1509 [Periódico revisado por pares]

United States: Elsevier Inc

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6
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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7
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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8
X‐Linked intellectual disability update 2022
X‐Linked intellectual disability update 2022
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X‐Linked intellectual disability update 2022

Schwartz, Charles E. ; Louie, Raymond J. ; Toutain, Annick ; Skinner, Cindy ; Friez, Michael J. ; Stevenson, Roger E.

American journal of medical genetics. Part A, 2023-01, Vol.191 (1), p.144-159 [Periódico revisado por pares]

Hoboken, USA: John Wiley & Sons, Inc

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9
The lysosomal storage disorders mucolipidosis type II, type III alpha/beta, and type III gamma: Update on GNPTAB and GNPTG mutations
The lysosomal storage disorders mucolipidosis type II, type III alpha/beta, and type III gamma: Update on GNPTAB and GNPTG mutations
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The lysosomal storage disorders mucolipidosis type II, type III alpha/beta, and type III gamma: Update on GNPTAB and GNPTG mutations

Velho, Renata Voltolini ; Harms, Frederike L. ; Danyukova, Tatyana ; Ludwig, Nataniel F. ; Friez, Michael J. ; Cathey, Sara S. ; Filocamo, Mirella ; Tappino, Barbara ; Güneş, Nilay ; Tüysüz, Beyhan ; Tylee, Karen L. ; Brammeier, Kathryn L. ; Heptinstall, Lesley ; Oussoren, Esmee ; Ploeg, Ans T. ; Petersen, Christine ; Alves, Sandra ; Saavedra, Gloria Durán ; Schwartz, Ida V. ; Muschol, Nicole ; Kutsche, Kerstin ; Pohl, Sandra

Human mutation, 2019-07, Vol.40 (7), p.842-864, Article humu.23748 [Periódico revisado por pares]

United States: Hindawi Limited

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10
Enrichment of mutations in chromatin regulators in people with Rett syndrome lacking mutations in MECP2
Enrichment of mutations in chromatin regulators in people with Rett syndrome lacking mutations in MECP2
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Enrichment of mutations in chromatin regulators in people with Rett syndrome lacking mutations in MECP2

Sajan, Samin A. ; Jhangiani, Shalini N. ; Muzny, Donna M. ; Gibbs, Richard A. ; Lupski, James R. ; Glaze, Daniel G. ; Kaufmann, Walter E. ; Skinner, Steven A. ; Annese, Fran ; Friez, Michael J. ; Lane, Jane ; Percy, Alan K. ; Neul, Jeffrey L.

Genetics in medicine, 2017-01, Vol.19 (1), p.13-19 [Periódico revisado por pares]

United States: Elsevier Inc

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