Ellen R Elias

Ellen R Elias

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Ellen R Elias

Ellen R Elias

Publications by authors named "Ellen R Elias"

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IRF2BPL gene mutation: Expanding on neurologic phenotypes.

Am J Med Genet A 2019 Nov 20;179(11):2263-2271. Epub 2019 Aug 20.

Department of Pediatrics and Genetics, University of Colorado School of Medicine, Aurora, Colorado.

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https://onlinelibrary.wiley.com/doi/abs/10.1002/ajmg.a.61328
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http://dx.doi.org/10.1002/ajmg.a.61328DOI Listing
November 2019

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

The co-occurrence of Down syndrome and autism spectrum disorder: is it because of additional genetic variations?

Prenat Diagn 2017 Jan 24;37(1):31-36. Epub 2016 Nov 24.

Section of Genetics and Metabolism, Department of Pediatrics, University of Colorado Denver School of Medicine, Aurora, CO, USA.

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http://dx.doi.org/10.1002/pd.4957DOI Listing
January 2017

Discovery of a potentially deleterious variant in TMEM87B in a patient with a hemizygous 2q13 microdeletion suggests a recessive condition characterized by congenital heart disease and restrictive cardiomyopathy.

Cold Spring Harb Mol Case Stud 2016 May;2(3):a000844

Department of Pediatrics, Section of Genetics, University of Colorado School of Medicine, Aurora, Colorado 80045, USA;; Colorado Intellectual and Developmental Disabilities Research Center (IDDRC), University of Colorado School of Medicine, Aurora, Colorado 80045, USA.

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http://dx.doi.org/10.1101/mcs.a000844DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4853521PMC
May 2016

Assays of plasma dehydrocholesteryl esters and oxysterols from Smith-Lemli-Opitz syndrome patients.

J Lipid Res 2013 Jan 16;54(1):244-53. Epub 2012 Oct 16.

Department of Chemistry, Vanderbilt Institute of Chemical Biology and Vanderbilt Kennedy Center for Research on Human Development, Vanderbilt University, Nashville, TN 37235, USA.

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http://dx.doi.org/10.1194/jlr.M031732DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3520531PMC
January 2013

Cone ERG responses in patients with Smith-Lemli-Opitz Syndrome (SLOS).

Doc Ophthalmol 2010 Oct 4;121(2):85-91. Epub 2010 May 4.

Department of Ophthalmology, Children's Hospital Boston, Harvard Medical School, 300 Longwood Avenue, Boston, MA 02115, USA.

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http://dx.doi.org/10.1007/s10633-010-9232-3DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC2935499PMC
October 2010

Shprintzen-Goldberg syndrome with tetralogy of fallot and subvalvar aortic stenosis.

J Ultrasound Med 2005 May;24(5):703-6

Tufts-New England Medical Center, 750 Washington St, Boston, MA 02111, USA.

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http://dx.doi.org/10.7863/jum.2005.24.5.703DOI Listing
May 2005

Rod photoreceptor responses in children with Smith-Lemli-Opitz syndrome.

Arch Ophthalmol 2003 Dec;121(12):1738-43

Departments of Ophthalmology and Medicine, Children's Hospital, New England College of Optometry, Boston, Massachusetts, USA.

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http://archopht.jamanetwork.com/article.aspx?doi=10.1001/arc
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http://dx.doi.org/10.1001/archopht.121.12.1738DOI Listing
December 2003