John B Moeschler

John B Moeschler

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John B Moeschler

John B Moeschler

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Correction: The ARID1B spectrum in 143 patients: from nonsyndromic intellectual disability to Coffin-Siris syndrome.

Authors:
Pleuntje J van der Sluijs Sandra Jansen Samantha A Vergano Miho Adachi-Fukuda Yasemin Alanay Adila AlKindy Anwar Baban Allan Bayat Stefanie Beck-Wödl Katherine Berry Emilia K Bijlsma Levinus A Bok Alwin F J Brouwer Ineke van der Burgt Philippe M Campeau Natalie Canham Krystyna Chrzanowska Yoyo W Y Chu Brain H Y Chung Karin Dahan Marjan De Rademaeker Anne Destree Tracy Dudding-Byth Rachel Earl Nursel Elcioglu Ellen R Elias Christina Fagerberg Alice Gardham Blanca Gener Erica H Gerkes Ute Grasshoff Arie van Haeringen Karin R Heitink Johanna C Herkert Nicolette S den Hollander Denise Horn David Hunt Sarina G Kant Mitsuhiro Kato Hülya Kayserili Rogier Kersseboom Esra Kilic Malgorzata Krajewska-Walasek Kylin Lammers Lone W Laulund Damien Lederer Melissa Lees Vanesa López-González Saskia Maas Grazia M S Mancini Carlo Marcelis Francisco Martinez Isabelle Maystadt Marianne McGuire Shane McKee Sarju Mehta Kay Metcalfe Jeff Milunsky Seiji Mizuno John B Moeschler Christian Netzer Charlotte W Ockeloen Barbara Oehl-Jaschkowitz Nobuhiko Okamoto Sharon N M Olminkhof Carmen Orellana Laurent Pasquier Caroline Pottinger Vera Riehmer Stephen P Robertson Maian Roifman Caroline Rooryck Fabienne G Ropers Monica Rosello Claudia A L Ruivenkamp Mahmut S Sagiroglu Suzanne C E H Sallevelt Amparo Sanchis Calvo Pelin O Simsek-Kiper Gabriela Soares Lucia Solaeche Fatma Mujgan Sonmez Miranda Splitt Duco Steenbeek Alexander P A Stegmann Constance T R M Stumpel Saori Tanabe Eyyup Uctepe G Eda Utine Hermine E Veenstra-Knol Sunita Venkateswaran Catheline Vilain Catherine Vincent-Delorme Anneke T Vulto-van Silfhout Patricia Wheeler Golder N Wilson Louise C Wilson Bernd Wollnik Tomoki Kosho Dagmar Wieczorek Evan Eichler Rolph Pfundt Bert B A de Vries Jill Clayton-Smith Gijs W E Santen

Genet Med 2019 Sep;21(9):2160-2161

Department of Clinical Genetics, Leiden University Medical Center, Leiden, The Netherlands.

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http://dx.doi.org/10.1038/s41436-018-0368-yDOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6752317PMC
September 2019

The ARID1B spectrum in 143 patients: from nonsyndromic intellectual disability to Coffin-Siris syndrome.

Authors:
Pleuntje J van der Sluijs Sandra Jansen Samantha A Vergano Miho Adachi-Fukuda Yasemin Alanay Adila AlKindy Anwar Baban Allan Bayat Stefanie Beck-Wödl Katherine Berry Emilia K Bijlsma Levinus A Bok Alwin F J Brouwer Ineke van der Burgt Philippe M Campeau Natalie Canham Krystyna Chrzanowska Yoyo W Y Chu Brain H Y Chung Karin Dahan Marjan De Rademaeker Anne Destree Tracy Dudding-Byth Rachel Earl Nursel Elcioglu Ellen R Elias Christina Fagerberg Alice Gardham Blanca Gener Erica H Gerkes Ute Grasshoff Arie van Haeringen Karin R Heitink Johanna C Herkert Nicolette S den Hollander Denise Horn David Hunt Sarina G Kant Mitsuhiro Kato Hülya Kayserili Rogier Kersseboom Esra Kilic Malgorzata Krajewska-Walasek Kylin Lammers Lone W Laulund Damien Lederer Melissa Lees Vanesa López-González Saskia Maas Grazia M S Mancini Carlo Marcelis Francisco Martinez Isabelle Maystadt Marianne McGuire Shane McKee Sarju Mehta Kay Metcalfe Jeff Milunsky Seiji Mizuno John B Moeschler Christian Netzer Charlotte W Ockeloen Barbara Oehl-Jaschkowitz Nobuhiko Okamoto Sharon N M Olminkhof Carmen Orellana Laurent Pasquier Caroline Pottinger Vera Riehmer Stephen P Robertson Maian Roifman Caroline Rooryck Fabienne G Ropers Monica Rosello Claudia A L Ruivenkamp Mahmut S Sagiroglu Suzanne C E H Sallevelt Amparo Sanchis Calvo Pelin O Simsek-Kiper Gabriela Soares Lucia Solaeche Fatma Mujgan Sonmez Miranda Splitt Duco Steenbeek Alexander P A Stegmann Constance T R M Stumpel Saori Tanabe Eyyup Uctepe G Eda Utine Hermine E Veenstra-Knol Sunita Venkateswaran Catheline Vilain Catherine Vincent-Delorme Anneke T Vulto-van Silfhout Patricia Wheeler Golder N Wilson Louise C Wilson Bernd Wollnik Tomoki Kosho Dagmar Wieczorek Evan Eichler Rolph Pfundt Bert B A de Vries Jill Clayton-Smith Gijs W E Santen

Genet Med 2019 06 8;21(6):1295-1307. Epub 2018 Nov 8.

Department of Clinical Genetics, Leiden University Medical Center, Leiden, The Netherlands.

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http://www.nature.com/articles/s41436-018-0330-z
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http://dx.doi.org/10.1038/s41436-018-0330-zDOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6752273PMC
June 2019

Identification of two 14q32 deletions involving DICER1 associated with the development of DICER1-related tumors.

Eur J Med Genet 2019 Jan 24;62(1):9-14. Epub 2018 Apr 24.

Department of Pathology, University of Utah, Salt Lake City, UT, United States; Cytogenetics and Genomic Microarray, ARUP Laboratories, Salt Lake City, UT, United States.

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https://linkinghub.elsevier.com/retrieve/pii/S17697212173084
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http://dx.doi.org/10.1016/j.ejmg.2018.04.011DOI Listing
January 2019

Mutations in the intellectual disability gene KDM5C reduce protein stability and demethylase activity.

Hum Mol Genet 2015 May 9;24(10):2861-72. Epub 2015 Feb 9.

Department of Cell Biology, Harvard Medical School, Boston, MA 02115, USA, Division of Newborn Medicine, Boston Children's Hospital, MA 02115, USA,

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https://academic.oup.com/hmg/article-lookup/doi/10.1093/hmg/
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http://dx.doi.org/10.1093/hmg/ddv046DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4406297PMC
May 2015

The metabolic evaluation of the child with an intellectual developmental disorder: diagnostic algorithm for identification of treatable causes and new digital resource.

Mol Genet Metab 2014 Apr 24;111(4):428-38. Epub 2014 Jan 24.

Division of Biochemical Diseases, Department of Pediatrics, BC Children's Hospital, Child & Family Research Institute, University of British Columbia, Vancouver, Canada; Treatable Intellectual Disability Endeavor in British Columbia (TIDE-BC (TIDE-BC, www.tidebc.org)), Canada.

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http://dx.doi.org/10.1016/j.ymgme.2014.01.011DOI Listing
April 2014

Neurodevelopmental disorders and genetic testing: current approaches and future advances.

Ann Neurol 2013 Aug;74(2):164-70

Departments of Neurology and Pediatrics and Institute of Human Genetics, University of California, San Francisco, San Francisco, CA.

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http://dx.doi.org/10.1002/ana.23950DOI Listing
August 2013

National profile of children with Down syndrome: disease burden, access to care, and family impact.

J Pediatr 2011 Oct 12;159(4):535-40.e2. Epub 2011 Jun 12.

Department of Health Management and Policy, University of New Hampshire, Durham, NH 03824, USA.

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http://dx.doi.org/10.1016/j.jpeds.2011.04.019DOI Listing
October 2011

Invited comment on terminology.

Am J Med Genet A 2011 May 15;155A(5):972-3. Epub 2011 Mar 15.

Department of Pediatrics, Dartmouth Medical School, Lebanon, New Hampshire, USA.

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http://doi.wiley.com/10.1002/ajmg.a.33830
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http://dx.doi.org/10.1002/ajmg.a.33830DOI Listing
May 2011

Behavioral features in young adults with FG syndrome (Opitz-Kaveggia syndrome).

Am J Med Genet C Semin Med Genet 2010 Nov;154C(4):477-85

Medical Genetics Institute at Cedars-Sinai Medical Center, Los Angeles, CA 90048, USA.

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http://dx.doi.org/10.1002/ajmg.c.30284DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC2967396PMC
November 2010

Access to genetic counseling for children with autism, Down syndrome, and intellectual disabilities.

Pediatrics 2009 Dec;124 Suppl 4:S443-9

University of New Hampshire, Department of Health Management and Policy, Hewitt Hall, Suite 323, Durham, NH 03824, USA.

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http://dx.doi.org/10.1542/peds.2009-1255QDOI Listing
December 2009

Improving genetic health care: a Northern New England pilot project addressing the genetic evaluation of the child with developmental delays or intellectual disability.

Am J Med Genet C Semin Med Genet 2009 Aug;151C(3):241-54

Division of Clinical Genetics, Department of Pediatrics, Dartmouth Medical School, Dartmouth-Hitchcock Medical Center, Lebanon, NH, USA.

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http://dx.doi.org/10.1002/ajmg.c.30221DOI Listing
August 2009

How best to use CGH arrays in the clinical setting.

Genet Med 2009 May;11(5):371; author reply 371-2

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http://dx.doi.org/10.1097/GIM.0b013e31819dbf9fDOI Listing
May 2009

Medical genetics diagnostic evaluation of the child with global developmental delay or intellectual disability.

Authors:
John B Moeschler

Curr Opin Neurol 2008 Apr;21(2):117-22

Dartmouth Medical School and Children's Hospital at Dartmouth, Dartmouth Hitchcock Medical Center, Lebanon, New Hampshire 03756, USA.

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http://dx.doi.org/10.1097/WCO.0b013e3282f82c2dDOI Listing
April 2008

Genetic evaluation of intellectual disabilities.

Authors:
John B Moeschler

Semin Pediatr Neurol 2008 Mar;15(1):2-9

Dartmouth-Hitchcock Medical Center, Lebanon, NH, USA.

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http://dx.doi.org/10.1016/j.spen.2008.01.002DOI Listing
March 2008

Deletion of chromosome 21 disturbs human brain morphogenesis.

Genet Med 2006 Jan;8(1):1-7

Division of Medical Genetics, Department of Pediatrics, Cedars-Sinai Health System and Department of Human Genetics, University of California at Los Angeles, CA, USA.

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http://dx.doi.org/10.109701.gim.0000195892.60506.3fDOI Listing
January 2006

Estimate of prevalence of proximal 15q duplication syndrome.

Am J Med Genet 2002 Sep;111(4):440-2

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http://dx.doi.org/10.1002/ajmg.10419DOI Listing
September 2002