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Friez, Michael J.

Genetics in medicine, 2018-12, Vol.20 (12), p.1508-1509 [Peer Reviewed Journal]

United States: Elsevier Inc

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2
Scalp-Ear-Nipple syndrome: first report of a Potassium channel tetramerization domain-containing 1 in-frame insertion and review of the literature
Scalp-Ear-Nipple syndrome: first report of a Potassium channel tetramerization domain-containing 1 in-frame insertion and review of the literature
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Scalp-Ear-Nipple syndrome: first report of a Potassium channel tetramerization domain-containing 1 in-frame insertion and review of the literature

Butler, Kameryn M ; Bahrambeigi, Vahid ; Merrihew, Allie ; Friez, Michael J ; Cathey, Sara S

Clinical dysmorphology, 2021-10, Vol.30 (4), p.167-172 [Peer Reviewed Journal]

England

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3
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 [Peer Reviewed Journal]

United States: Elsevier Inc

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4
A novel familial autosomal dominant mutation in ARID1B causing neurodevelopmental delays, short stature, and dysmorphic features
A novel familial autosomal dominant mutation in ARID1B causing neurodevelopmental delays, short stature, and dysmorphic features
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A novel familial autosomal dominant mutation in ARID1B causing neurodevelopmental delays, short stature, and dysmorphic features

Smith, Joshua A. ; Holden, Kenton R. ; Friez, Michael J. ; Jones, Julie R. ; Lyons, Michael J.

American journal of medical genetics. Part A, 2016-12, Vol.170A (12), p.3313-3318 [Peer Reviewed Journal]

United States: Blackwell Publishing Ltd

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5
Key apoptotic genes APAF1 and CASP9 implicated in recurrent folate-resistant neural tube defects
Key apoptotic genes APAF1 and CASP9 implicated in recurrent folate-resistant neural tube defects
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Key apoptotic genes APAF1 and CASP9 implicated in recurrent folate-resistant neural tube defects

Spellicy, Catherine J ; Norris, Joy ; Bend, Renee ; Bupp, Caleb ; Mester, Paul ; Reynolds, Tracy ; Dean, Jane ; Peng, Yunhui ; Alexov, Emil ; Schwartz, Charles E ; Stevenson, Roger S ; J Friez, Michael

European journal of human genetics : EJHG, 2018-03, Vol.26 (3), p.420-427 [Peer Reviewed Journal]

England: Nature Publishing Group

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6
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 [Peer Reviewed Journal]

Switzerland: Frontiers Research Foundation

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7
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 [Peer Reviewed Journal]

England: Nature Publishing Group

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8
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.64-17, Article 64 [Peer Reviewed Journal]

Germany: BioMed Central Ltd

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9
Normalized Clinical Severity Scores Reveal a Correlation between X Chromosome Inactivation and Disease Severity in Rett Syndrome
Normalized Clinical Severity Scores Reveal a Correlation between X Chromosome Inactivation and Disease Severity in Rett Syndrome
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Normalized Clinical Severity Scores Reveal a Correlation between X Chromosome Inactivation and Disease Severity in Rett Syndrome

Merritt, Jonathan K ; Fang, Xiaolan ; Caylor, Raymond C ; Skinner, Steven A ; Friez, Michael J ; Percy, Alan K ; Neul, Jeffrey L

Genes, 2024-05, Vol.15 (5), p.594 [Peer Reviewed Journal]

Switzerland: MDPI AG

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10
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 [Peer Reviewed Journal]

England: Nature Publishing Group

Full text available

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