Patricia Wheeler

Patricia Wheeler

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Patricia Wheeler

Patricia Wheeler

Publications by authors named "Patricia Wheeler"

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De novo and inherited variants in ZNF292 underlie a neurodevelopmental disorder with features of autism spectrum disorder.

Genet Med 2019 Nov 14. Epub 2019 Nov 14.

Division of Genetic Medicine, Department of Pediatrics, University of Washington School of Medicine, Seattle, WA, USA.

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http://dx.doi.org/10.1038/s41436-019-0693-9DOI 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

Author Correction: CHD3 helicase domain mutations cause a neurodevelopmental syndrome with macrocephaly and impaired speech and language.

Nat Commun 2019 May 2;10(1):2079. Epub 2019 May 2.

CHU Sainte-Justine Research Center, Montreal, QC H3T 1C5, Canada.

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http://dx.doi.org/10.1038/s41467-019-10161-9DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6497626PMC
May 2019

Author Correction: CHD3 helicase domain mutations cause a neurodevelopmental syndrome with macrocephaly and impaired speech and language.

Nat Commun 2019 02 15;10(1):883. Epub 2019 Feb 15.

CHU Sainte-Justine Research Center, Montreal, QC, H3T 1C5, Canada.

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http://dx.doi.org/10.1038/s41467-019-08800-2DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6377600PMC
February 2019

CHD3 helicase domain mutations cause a neurodevelopmental syndrome with macrocephaly and impaired speech and language.

Nat Commun 2018 11 5;9(1):4619. Epub 2018 Nov 5.

CHU Sainte-Justine Research Center, Montreal, QC H3T 1C5, Canada.

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http://www.nature.com/articles/s41467-018-06014-6
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http://dx.doi.org/10.1038/s41467-018-06014-6DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6218476PMC
November 2018

Heterozygous Pathogenic Variant in DACT1 Causes an Autosomal-Dominant Syndrome with Features Overlapping Townes-Brocks Syndrome.

Hum Mutat 2017 04 2;38(4):373-377. Epub 2017 Feb 2.

Department of Genetics and Genomic Sciences, Icahn School of Medicine at Mount Sinai, New York, New York.

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http://dx.doi.org/10.1002/humu.23171DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5390682PMC
April 2017

Whole exome sequence analysis of Peters anomaly.

Hum Genet 2014 Dec 3;133(12):1497-511. Epub 2014 Sep 3.

Department of Pediatrics and Children's Research Institute, Medical College of Wisconsin, Milwaukee, WI, 53226, USA.

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http://dx.doi.org/10.1007/s00439-014-1481-xDOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4395516PMC
December 2014

Haploinsufficiency of HDAC4 does not cause intellectual disability in all affected individuals.

Am J Med Genet A 2014 Jul 8;164A(7):1826-9. Epub 2014 Apr 8.

Divison of Genetics, Nemours Children's Clinic, Orlando, Florida.

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http://dx.doi.org/10.1002/ajmg.a.36542DOI Listing
July 2014

8q23-q24 duplication--further delineation of a rare chromosomal abnormality.

Am J Med Genet A 2010 Feb;152A(2):459-63

Division of Genetics, Nemours Children's Clinic, Orlando, Florida 32806, USA.

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http://dx.doi.org/10.1002/ajmg.a.33237DOI Listing
February 2010

Adults with VATER association: long-term prognosis.

Am J Med Genet A 2005 Oct;138A(3):212-7

Division of Genetics/Metabolism, Nemours Children's Clinic, Orlando, FL 32806, USA.

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http://dx.doi.org/10.1002/ajmg.a.30938DOI Listing
October 2005

Vasomotor rhinitis.

Am Fam Physician 2005 Sep;72(6):1057-62

Department of Family and Geriatric Medicine, University of Louisville School of Medicine, Louisville, Kentucky 40218, USA.

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September 2005

The importance of interpersonal skills. Emotional intelligence significantly impacts leadership success--and the bottom line.

Healthc Exec 2005 Jan-Feb;20(1):44-5

The Levin Group, LLC, Atlanta, GA 30307-1656, USA.

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March 2005

Simultaneous occurrence of neurofibromatosis type 1 and tuberous sclerosis in a young girl.

Am J Med Genet A 2005 Feb;133A(1):78-81

Division of Genetics and Metabolism, Nemours Children's Clinic, Orlando, Florida, USA.

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http://dx.doi.org/10.1002/ajmg.a.30530DOI Listing
February 2005

Short stature and functional impairment: a systematic review.

Arch Pediatr Adolesc Med 2004 Mar;158(3):236-43

Division of Genetics, Department of Pediatrics, Tufts University School of Medicine, Floating Hospital for Children, Boston, MA, USA.

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http://dx.doi.org/10.1001/archpedi.158.3.236DOI Listing
March 2004

A new X-linked syndrome with agenesis of the corpus callosum, mental retardation, coloboma, micrognathia, and a mutation in the Alpha 4 gene at Xq13.

Am J Med Genet A 2003 Nov;123A(1):37-44

Medical Genetics Birth Defects Center, Ahmanson Department of Pediatrics, Cedars-Sinai Medical Center, UCLA School of Medicine, Los Angeles, California 90048, USA.

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http://doi.wiley.com/10.1002/ajmg.a.20504
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http://dx.doi.org/10.1002/ajmg.a.20504DOI Listing
November 2003

Craniosynostosis and congenital heart anomalies associated with a maternal deletion of 15q15-22.1.

Am J Med Genet A 2003 Aug;120A(4):542-6

Albert Einstein College of Medicine, Bronx, New York, USA.

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http://doi.wiley.com/10.1002/ajmg.a.20093
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http://dx.doi.org/10.1002/ajmg.a.20093DOI Listing
August 2003

Molecular genetic testing for prenatal diagnosis.

Clin Lab Med 2003 Jun;23(2):481-502

Department of Pathology and Laboratory Medicine, Women and Infants Hospital, Brown University, 101 Dudley Street, Providence, RI 02905, USA.

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http://dx.doi.org/10.1016/s0272-2712(03)00035-0DOI Listing
June 2003

Further delineation of cardiac abnormalities in Costello syndrome.

Am J Med Genet 2002 Aug;111(2):115-29

Teratology Unit, Pediatric Service, Massachusetts General Hospital, Boston, Massachusetts, USA.

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http://dx.doi.org/10.1002/ajmg.10558DOI Listing
August 2002

Fetal diaphragmatic hernia and upper limb anomalies suggest Brachmann-de Lange syndrome.

Prenat Diagn 2002 Feb;22(2):144-7

Division of Maternal-Fetal Medicine, Department of Pediatrics, New England Medical Center and Tufts University School of Medicine, Boston, MA 02111, USA.

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http://dx.doi.org/10.1002/pd.281DOI Listing
February 2002