Publications by authors named "Michael J Friez"

64Publications

Schimke XLID syndrome results from a deletion in BCAP31.

Am J Med Genet A 2020 Jul 18. Epub 2020 Jul 18.

Greenwood Genetic Center, Greenwood, South Carolina, USA.

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http://dx.doi.org/10.1002/ajmg.a.61755DOI Listing
July 2020

Autistic Disorder: A 20 Year Chronicle.

J Autism Dev Disord 2020 Jun 26. Epub 2020 Jun 26.

Greenwood Genetic Center, Greenwood, SC, USA.

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http://dx.doi.org/10.1007/s10803-020-04568-3DOI Listing
June 2020

Evaluation of DNA Methylation Episignatures for Diagnosis and Phenotype Correlations in 42 Mendelian Neurodevelopmental Disorders.

Am J Hum Genet 2020 03 27;106(3):356-370. Epub 2020 Feb 27.

Molecular Genetics Laboratory, Molecular Diagnostics Division, London Health Sciences Centre, London, ON N6A5W9, Canada; Department of Pathology and Laboratory Medicine, Western University, London, ON N6A3K7, Canada. Electronic address:

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http://dx.doi.org/10.1016/j.ajhg.2020.01.019DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC7058829PMC
March 2020

Clark-Baraitser syndrome is associated with a nonsense alteration in the autosomal gene TRIP12.

Am J Med Genet A 2020 03 8;182(3):595-596. Epub 2019 Dec 8.

J.C. Self Research Institute of Human Genetics, Greenwood Genetic Center, Greenwood, South Carolina.

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http://dx.doi.org/10.1002/ajmg.a.61443DOI Listing
March 2020

De Novo Pathogenic Variants in CACNA1E Cause Developmental and Epileptic Encephalopathy with Contractures, Macrocephaly, and Dyskinesias.

Authors:
Katherine L Helbig Robert J Lauerer Jacqueline C Bahr Ivana A Souza Candace T Myers Betül Uysal Niklas Schwarz Maria A Gandini Sun Huang Boris Keren Cyril Mignot Alexandra Afenjar Thierry Billette de Villemeur Delphine Héron Caroline Nava Stéphanie Valence Julien Buratti Christina R Fagerberg Kristina P Soerensen Maria Kibaek Erik-Jan Kamsteeg David A Koolen Boudewijn Gunning H Jurgen Schelhaas Michael C Kruer Jordana Fox Somayeh Bakhtiari Randa Jarrar Sergio Padilla-Lopez Kristin Lindstrom Sheng Chih Jin Xue Zeng Kaya Bilguvar Antigone Papavasileiou Qinghe Xing Changlian Zhu Katja Boysen Filippo Vairo Brendan C Lanpher Eric W Klee Jan-Mendelt Tillema Eric T Payne Margot A Cousin Teresa M Kruisselbrink Myra J Wick Joshua Baker Eric Haan Nicholas Smith Azita Sadeghpour Erica E Davis Nicholas Katsanis Mark A Corbett Alastair H MacLennan Jozef Gecz Saskia Biskup Eva Goldmann Lance H Rodan Elizabeth Kichula Eric Segal Kelly E Jackson Alexander Asamoah David Dimmock Julie McCarrier Lorenzo D Botto Francis Filloux Tatiana Tvrdik Gregory D Cascino Sherry Klingerman Catherine Neumann Raymond Wang Jessie C Jacobsen Melinda A Nolan Russell G Snell Klaus Lehnert Lynette G Sadleir Britt-Marie Anderlid Malin Kvarnung Renzo Guerrini Michael J Friez Michael J Lyons Jennifer Leonhard Gabriel Kringlen Kari Casas Christelle M El Achkar Lacey A Smith Alexander Rotenberg Annapurna Poduri Alba Sanchis-Juan Keren J Carss Julia Rankin Adam Zeman F Lucy Raymond Moira Blyth Bronwyn Kerr Karla Ruiz Jill Urquhart Imelda Hughes Siddharth Banka Ulrike B S Hedrich Ingrid E Scheffer Ingo Helbig Gerald W Zamponi Holger Lerche Heather C Mefford

Am J Hum Genet 2019 Mar;104(3):562

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http://dx.doi.org/10.1016/j.ajhg.2019.02.015DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6407522PMC
March 2019

De Novo Pathogenic Variants in CACNA1E Cause Developmental and Epileptic Encephalopathy with Contractures, Macrocephaly, and Dyskinesias.

Authors:
Katherine L Helbig Robert J Lauerer Jacqueline C Bahr Ivana A Souza Candace T Myers Betül Uysal Niklas Schwarz Maria A Gandini Sun Huang Boris Keren Cyril Mignot Alexandra Afenjar Thierry Billette de Villemeur Delphine Héron Caroline Nava Stéphanie Valence Julien Buratti Christina R Fagerberg Kristina P Soerensen Maria Kibaek Erik-Jan Kamsteeg David A Koolen Boudewijn Gunning H Jurgen Schelhaas Michael C Kruer Jordana Fox Somayeh Bakhtiari Randa Jarrar Sergio Padilla-Lopez Kristin Lindstrom Sheng Chih Jin Xue Zeng Kaya Bilguvar Antigone Papavasileiou Qinghe Xing Changlian Zhu Katja Boysen Filippo Vairo Brendan C Lanpher Eric W Klee Jan-Mendelt Tillema Eric T Payne Margot A Cousin Teresa M Kruisselbrink Myra J Wick Joshua Baker Eric Haan Nicholas Smith Azita Sadeghpour Erica E Davis Nicholas Katsanis Mark A Corbett Alastair H MacLennan Jozef Gecz Saskia Biskup Eva Goldmann Lance H Rodan Elizabeth Kichula Eric Segal Kelly E Jackson Alexander Asamoah David Dimmock Julie McCarrier Lorenzo D Botto Francis Filloux Tatiana Tvrdik Gregory D Cascino Sherry Klingerman Catherine Neumann Raymond Wang Jessie C Jacobsen Melinda A Nolan Russell G Snell Klaus Lehnert Lynette G Sadleir Britt-Marie Anderlid Malin Kvarnung Renzo Guerrini Michael J Friez Michael J Lyons Jennifer Leonhard Gabriel Kringlen Kari Casas Christelle M El Achkar Lacey A Smith Alexander Rotenberg Annapurna Poduri Alba Sanchis-Juan Keren J Carss Julia Rankin Adam Zeman F Lucy Raymond Moira Blyth Bronwyn Kerr Karla Ruiz Jill Urquhart Imelda Hughes Siddharth Banka Ulrike B S Hedrich Ingrid E Scheffer Ingo Helbig Gerald W Zamponi Holger Lerche Heather C Mefford

Am J Hum Genet 2018 11 18;103(5):666-678. Epub 2018 Oct 18.

Division of Genetic Medicine, University of Washington, Seattle, WA 98195, USA. Electronic address:

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https://linkinghub.elsevier.com/retrieve/pii/S00029297183031
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http://dx.doi.org/10.1016/j.ajhg.2018.09.006DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6216110PMC
November 2018

Biallelic deletions of the Waardenburg II syndrome gene, SOX10, cause a recognizable arthrogryposis syndrome.

Am J Med Genet A 2018 09 16;176(9):1968-1971. Epub 2018 Aug 16.

Greenwood Genetic Center, Greenwood, South Carolina.

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http://dx.doi.org/10.1002/ajmg.a.40362DOI Listing
September 2018

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

Authors:
Michael J Friez

Genet Med 2018 12 30;20(12):1508-1509. Epub 2018 Apr 30.

Greenwood Genetic Center, 106 Gregor Mendel Circle, Greenwood, SC, 29646, USA.

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http://dx.doi.org/10.1038/s41436-018-0030-8DOI Listing
December 2018

Importance of genetic testing in global health during the evaluation of familial microcephaly.

Clin Case Rep 2016 10 26;4(10):968-971. Epub 2016 Aug 26.

Greenwood Genetic Center Greenwood South Carolina USA; Departments of Neurosciences (Neurology) and Pediatrics Medical University of South Carolina Charleston South Carolina USA.

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http://dx.doi.org/10.1002/ccr3.669DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5054472PMC
October 2016

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

Am J Med Genet A 2016 12 29;170(12):3313-3318. Epub 2016 Aug 29.

Clinical Genetics, Greenwood Genetic Center, Greenwood, South Carolina.

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http://dx.doi.org/10.1002/ajmg.a.37945DOI Listing
December 2016

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

Genet Med 2017 01 12;19(1):13-19. Epub 2016 May 12.

Section of Child Neurology and Developmental Neuroscience, Department of Pediatrics, Baylor College of Medicine, Houston, Texas, USA.

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http://dx.doi.org/10.1038/gim.2016.42DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5107176PMC
January 2017

Identification of a novel insertion mutation in FGFR3 that causes thanatophoric dysplasia type 1.

Am J Med Genet A 2016 06 30;170(6):1573-9. Epub 2016 Mar 30.

Department of Cellular Biology, University of Georgia, Athens, Georgia.

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http://dx.doi.org/10.1002/ajmg.a.37609DOI Listing
June 2016

Beyond Ohdo syndrome: A familial missense mutation broadens the MED12 spectrum.

Am J Med Genet A 2015 Dec 4;167A(12):3180-5. Epub 2015 Sep 4.

Department of Pediatrics, Eastern Virginia Medical School, Norfolk, Virginia.

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http://dx.doi.org/10.1002/ajmg.a.37354DOI Listing
December 2015

Truncating mutations in LRP4 lead to a prenatal lethal form of Cenani-Lenz syndrome.

Am J Med Genet A 2014 Sep 12;164A(9):2391-7. Epub 2014 Jun 12.

Greenwood Genetic Center, Greenwood, South Carolina.

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http://dx.doi.org/10.1002/ajmg.a.36647DOI Listing
September 2014

Molecular analysis of fragile X syndrome.

Curr Protoc Hum Genet 2014 Jan 21;80:Unit 9.5.. Epub 2014 Jan 21.

Greenwood Genetic Center, Greenwood, South Carolina.

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http://dx.doi.org/10.1002/0471142905.hg0905s80DOI Listing
January 2014

MECP2 duplication: possible cause of severe phenotype in females.

Am J Med Genet A 2014 Apr 23;164A(4):1029-34. Epub 2014 Jan 23.

Department of Pediatrics, University of Wisconsin, Madison, Wisconsin.

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http://dx.doi.org/10.1002/ajmg.a.36380DOI Listing
April 2014

A novel intermediate mucolipidosis II/IIIαβ caused by GNPTAB mutation in the cytosolic N-terminal domain.

Eur J Hum Genet 2014 May 18;22(5):594-601. Epub 2013 Sep 18.

Department of Clinical Genetics, Greenwood Genetic Center, Charleston Office, North Charleston, SC, USA.

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http://dx.doi.org/10.1038/ejhg.2013.207DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3992569PMC
May 2014

ACMG clinical laboratory standards for next-generation sequencing.

Genet Med 2013 Sep 25;15(9):733-47. Epub 2013 Jul 25.

Laboratory for Molecular Medicine, Partners Healthcare Center for Personalized Genetic Medicine, Boston, Massachusetts, USA.

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https://www.acmg.net/docs/ACMG_Lab_Standards_Next_Generation
Web Search
http://www.nature.com/doifinder/10.1038/gim.2013.92
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http://dx.doi.org/10.1038/gim.2013.92DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4098820PMC
September 2013

MED12 mutations link intellectual disability syndromes with dysregulated GLI3-dependent Sonic Hedgehog signaling.

Proc Natl Acad Sci U S A 2012 Nov 22;109(48):19763-8. Epub 2012 Oct 22.

Department of Molecular and Cell Biology, Howard Hughes Medical Institute, University of California, Berkeley, CA 94270, USA.

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http://dx.doi.org/10.1073/pnas.1121120109DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3511715PMC
November 2012

Validation of a screening tool for the rapid and reliable detection of CGG trinucleotide repeat expansions in FMR1.

Genet Test Mol Biomarkers 2012 Jun 6;16(6):465-70. Epub 2012 Jan 6.

Molecular Diagnostic Laboratory, Greenwood Genetic Center, Greenwood, South Carolina 29646, USA.

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http://www.liebertpub.com/doi/10.1089/gtmb.2011.0134
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http://dx.doi.org/10.1089/gtmb.2011.0134DOI Listing
June 2012

Allele drop-out in the MECP2 gene due to G-quadruplex and i-motif sequences when using polymerase chain reaction-based diagnosis for Rett syndrome.

Genet Test Mol Biomarkers 2010 Apr;14(2):241-7

Department of Pathology and Laboratory Medicine, The Children's Mercy Hospitals and Clinics, Kansas City, Missouri 64108, USA.

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http://www.liebertpub.com/doi/10.1089/gtmb.2009.0178
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http://dx.doi.org/10.1089/gtmb.2009.0178DOI Listing
April 2010

Molecular analysis of Fragile X syndrome.

Curr Protoc Hum Genet 2009 Oct;Chapter 9:Unit 9.5

Greenwood Genetic Center, Greenwood, South Carolina, USA.

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http://dx.doi.org/10.1002/0471142905.hg0905s63DOI Listing
October 2009

Partial ATRX gene duplication causes ATR-X syndrome.

Am J Med Genet A 2009 Oct;149A(10):2317-20

Greenwood Genetic Center, Greenwood, South Carolina 29646, USA.

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http://dx.doi.org/10.1002/ajmg.a.33006DOI Listing
October 2009

First case of deletion of the faciogenital dysplasia 1 (FGD1) gene in a patient with Aarskog-Scott syndrome.

Eur J Med Genet 2009 Jul-Aug;52(4):262-4. Epub 2008 Dec 16.

Department of Pediatrics, University of Michigan Medical School, Ann Arbor, MI 48109-5718, USA.

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http://dx.doi.org/10.1016/j.ejmg.2008.12.001DOI Listing
November 2009

Gene symbol: ARX. Disease: Mental retardation.

Hum Genet 2008 Jun;123(5):549

University of Kansas, School of Medicine, Department of Pediatrics, 3901 Rainbow Blvd., Mail stop 4004, 66160, Kansas City, KS, USA.

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June 2008

A previously unreported mutation in a Currarino syndrome kindred.

Am J Med Genet A 2006 Sep;140(18):1923-30

Medical Genetics Institute, Cedars-Sinai Medical Center, David Geffen School of Medicine at UCLA, Los Angeles, California 90048, USA.

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http://dx.doi.org/10.1002/ajmg.a.31420DOI Listing
September 2006

Clinical variation of Aarskog syndrome in a large family with 2189delA in the FGD1 gene.

Am J Med Genet A 2006 Jan;140(2):162-5

The Genetics Institute, Ha'Emek Medical Center, Afula, Israel.

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http://dx.doi.org/10.1002/ajmg.a.31033DOI Listing
January 2006

Ovarian transplantation between monozygotic twins discordant for premature ovarian failure.

N Engl J Med 2005 Jul 7;353(1):58-63. Epub 2005 Jun 7.

Infertility Center of St. Louis, St. Luke's Hospital, St. Louis, MO 63017, USA.

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http://dx.doi.org/10.1056/NEJMoa043157DOI Listing
July 2005

A previously unidentified MECP2 open reading frame defines a new protein isoform relevant to Rett syndrome.

Nat Genet 2004 Apr 21;36(4):339-41. Epub 2004 Mar 21.

Program in Genetics and Genomic Biology, Research Institute, The Hospital for Sick Children, 555 University Avenue, Toronto, Ontario M5G 1X8, Canada.

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http://dx.doi.org/10.1038/ng1327DOI Listing
April 2004

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

FEMS Microbiol Ecol 2003 Apr;43(3):411-7

Marine Science Program, University of South Carolina, Columbia, SC 29208, USA.

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https://academic.oup.com/femsec/article-lookup/doi/10.1111/j
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http://dx.doi.org/10.1111/j.1574-6941.2003.tb01081.xDOI Listing
April 2003