Publications by authors named "Antonie D Kline"

40Publications

Mutations of the Transcriptional Corepressor ZMYM2 Cause Syndromic Urinary Tract Malformations.

Authors:
Dervla M Connaughton Rufeng Dai Danielle J Owen Jonathan Marquez Nina Mann Adda L Graham-Paquin Makiko Nakayama Etienne Coyaud Estelle M N Laurent Jonathan R St-Germain Lot Snijders Blok Arianna Vino Verena Klämbt Konstantin Deutsch Chen-Han Wilfred Wu Caroline M Kolvenbach Franziska Kause Isabel Ottlewski Ronen Schneider Thomas M Kitzler Amar J Majmundar Florian Buerger Ana C Onuchic-Whitford Mao Youying Amy Kolb Daanya Salmanullah Evan Chen Amelie T van der Ven Jia Rao Hadas Ityel Steve Seltzsam Johanna M Rieke Jing Chen Asaf Vivante Daw-Yang Hwang Stefan Kohl Gabriel C Dworschak Tobias Hermle Mariëlle Alders Tobias Bartolomaeus Stuart B Bauer Michelle A Baum Eva H Brilstra Thomas D Challman Jacob Zyskind Carrie E Costin Katrina M Dipple Floor A Duijkers Marcia Ferguson David R Fitzpatrick Roger Fick Ian A Glass Peter J Hulick Antonie D Kline Ilona Krey Selvin Kumar Weining Lu Elysa J Marco Ingrid M Wentzensen Heather C Mefford Konrad Platzer Inna S Povolotskaya Juliann M Savatt Natalia V Shcherbakova Prabha Senguttuvan Audrey E Squire Deborah R Stein Isabelle Thiffault Victoria Y Voinova Michael J G Somers Michael A Ferguson Avram Z Traum Ghaleb H Daouk Ankana Daga Nancy M Rodig Paulien A Terhal Ellen van Binsbergen Loai A Eid Velibor Tasic Hila Milo Rasouly Tze Y Lim Dina F Ahram Ali G Gharavi Heiko M Reutter Heidi L Rehm Daniel G MacArthur Monkol Lek Kristen M Laricchia Richard P Lifton Hong Xu Shrikant M Mane Simone Sanna-Cherchi Andrew D Sharrocks Brian Raught Simon E Fisher Maxime Bouchard Mustafa K Khokha Shirlee Shril Friedhelm Hildebrandt

Am J Hum Genet 2020 10 4;107(4):727-742. Epub 2020 Sep 4.

Department of Pediatrics, Boston Children's Hospital, Harvard Medical School, Boston, MA 02115, USA. Electronic address:

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http://dx.doi.org/10.1016/j.ajhg.2020.08.013DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC7536580PMC
October 2020

Repetitive and Self-injurious Behaviors in Children with Cornelia de Lange Syndrome.

J Autism Dev Disord 2020 Aug 18. Epub 2020 Aug 18.

Department of Psychiatry, The Johns Hopkins Hospital, Bloomberg Children's Center, Johns Hopkins University School of Medicine, 12th Floor, 1800 Orleans Street, Baltimore, MD, 21287, USA.

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http://dx.doi.org/10.1007/s10803-020-04617-xDOI Listing
August 2020

-associated mitochondrial disease: A case report of a patient with prolonged survival and literature review.

Mol Genet Metab Rep 2020 Sep 2;24:100613. Epub 2020 Jun 2.

Harvey Institute for Human Genetics, Greater Baltimore Medical Center, Baltimore, MD, USA.

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http://dx.doi.org/10.1016/j.ymgmr.2020.100613DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC7267727PMC
September 2020

De Novo Mutations of CCNK Cause a Syndromic Neurodevelopmental Disorder with Distinctive Facial Dysmorphism.

Am J Hum Genet 2018 09 16;103(3):448-455. Epub 2018 Aug 16.

Department of Pediatric Endocrinology/Genetics, Xinhua Hospital, Shanghai Jiao Tong University School of Medicine, Shanghai Institute for Pediatric Research, Shanghai 200092, China. Electronic address:

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http://dx.doi.org/10.1016/j.ajhg.2018.07.019DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6128244PMC
September 2018

Improvement in hearing loss over time in Cornelia de Lange syndrome.

Int J Pediatr Otorhinolaryngol 2016 Aug 13;87:203-7. Epub 2016 Jun 13.

Division of Pediatric Otolaryngology - Head and Neck Surgery, Cincinnati Children's Hospital Medical Center, Cincinnati, OH, USA; Department of Otolaryngology - Head and Neck Surgery, University of Cincinnati College of Medicine, Cincinnati, OH, USA; Department of Pulmonary Medicine, Cincinnati Children's Hospital Medical Center, Cincinnati, OH, USA. Electronic address:

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http://dx.doi.org/10.1016/j.ijporl.2016.06.032DOI Listing
August 2016

Buggies, villi, cornelia, and genes: My extended mentorship with LG Jackson.

Authors:
Antonie D Kline

Am J Med Genet C Semin Med Genet 2016 06 25;172(2):83-5. Epub 2016 Apr 25.

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http://dx.doi.org/10.1002/ajmg.c.31482DOI Listing
June 2016

Mutations in DDX3X Are a Common Cause of Unexplained Intellectual Disability with Gender-Specific Effects on Wnt Signaling.

Am J Hum Genet 2015 Aug 30;97(2):343-52. Epub 2015 Jul 30.

Department of Human Genetics, Radboud University Medical Center, 6500 HB Nijmegen, the Netherlands. Electronic address:

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https://clinicforspecialchildren.org/wp-content/uploads/2015
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http://linkinghub.elsevier.com/retrieve/pii/S000292971500280
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http://dx.doi.org/10.1016/j.ajhg.2015.07.004DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4573244PMC
August 2015

Autism traits in children and adolescents with Cornelia de Lange syndrome.

Am J Med Genet A 2014 Jun 9;164A(6):1400-10. Epub 2014 Apr 9.

Department of Neurology and Developmental Medicine, Kennedy Krieger Institute, Baltimore, Maryland.

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http://dx.doi.org/10.1002/ajmg.a.36573DOI Listing
June 2014

Loss-of-function HDAC8 mutations cause a phenotypic spectrum of Cornelia de Lange syndrome-like features, ocular hypertelorism, large fontanelle and X-linked inheritance.

Hum Mol Genet 2014 Jun 8;23(11):2888-900. Epub 2014 Jan 8.

Sektion für Funktionelle Genetik am Institut für Humangenetik, Universität zu Lübeck, Lübeck 23538, Germany.

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http://dx.doi.org/10.1093/hmg/ddu002DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4014191PMC
June 2014

Newborn screening for X-linked adrenoleukodystrophy: further evidence high throughput screening is feasible.

Mol Genet Metab 2014 Jan 9;111(1):55-7. Epub 2013 Nov 9.

Neurogenetics, Kennedy Krieger Institute, 707 N Broadway, Baltimore, MD 21205, USA; University of Minnesota, 12-150 Phillips Wangensteen Building, MMC-295, 516 Delaware Street, SE, Minneapolis, MN 55455, USA.

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http://dx.doi.org/10.1016/j.ymgme.2013.10.019DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3935823PMC
January 2014

Congenital heart disease in Cornelia de Lange syndrome: phenotype and genotype analysis.

Am J Med Genet A 2012 Oct 10;158A(10):2499-505. Epub 2012 Sep 10.

Department of Pediatrics, Section of Pediatric Cardiology, The Children's Hospital of Colorado, Denver, USA.

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http://dx.doi.org/10.1002/ajmg.a.35582DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3551981PMC
October 2012

Insomnia in Cornelia de Lange syndrome.

Int J Pediatr Otorhinolaryngol 2012 Jul 13;76(7):972-5. Epub 2012 Apr 13.

Emory University, Department of Otolaryngology - Head and Neck Surgery, 1365 Clifton Road NE, Building A - Suite 2300, Atlanta, GA 30322, United States.

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http://dx.doi.org/10.1016/j.ijporl.2012.03.008DOI Listing
July 2012

Characterization of sleep disturbance in Cornelia de Lange Syndrome.

Int J Pediatr Otorhinolaryngol 2011 Feb 13;75(2):215-8. Epub 2010 Dec 13.

Johns Hopkins, Department of Otolaryngology - Head and Neck Surgery, 601 N. Caroline St, 6th Floor, Baltimore, MD 21287, United States.

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http://dx.doi.org/10.1016/j.ijporl.2010.11.003DOI Listing
February 2011

Facial diagnosis of mild and variant CdLS: Insights from a dysmorphologist survey.

Am J Med Genet A 2010 Jul;152A(7):1641-53

Division of Genetics, The Children's Hospital of Philadelphia, Philadelphia, Pennsylvania, USA.

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http://dx.doi.org/10.1002/ajmg.a.33441DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4133091PMC
July 2010

Genome-wide DNA methylation analysis in cohesin mutant human cell lines.

Nucleic Acids Res 2010 Sep 6;38(17):5657-71. Epub 2010 May 6.

Division of Human Genetics, Abramson Research Institute, Center for Biomedical Informatics, The Children's Hospital of Philadelphia, Philadelphia, PA 19104, USA.

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http://dx.doi.org/10.1093/nar/gkq346DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC2943628PMC
September 2010

Natural history of aging in Cornelia de Lange syndrome.

Am J Med Genet C Semin Med Genet 2007 Aug;145C(3):248-60

Harvey Institute for Human Genetics, Department of Pediatrics, Greater Baltimore Medical Center, Baltimore, Maryland 21204, USA.

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http://doi.wiley.com/10.1002/ajmg.c.30137
Publisher Site
http://dx.doi.org/10.1002/ajmg.c.30137DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4902018PMC
August 2007

Cornelia de Lange syndrome: clinical review, diagnostic and scoring systems, and anticipatory guidance.

Am J Med Genet A 2007 Jun;143A(12):1287-96

Harvey Institute for Human Genetics, Department of Pediatrics, Greater Baltimore Medical Center, Baltimore, Maryland 21204, USA.

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http://dx.doi.org/10.1002/ajmg.a.31757DOI Listing
June 2007

NIPBL mutational analysis in 120 individuals with Cornelia de Lange syndrome and evaluation of genotype-phenotype correlations.

Am J Hum Genet 2004 Oct 18;75(4):610-23. Epub 2004 Aug 18.

Division of Human Genetics and Molecular Biology, The Children's Hospital of Philadelphia, Philadelphia, PA 19104-4318, USA.

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http://dx.doi.org/10.1086/424698DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC1182048PMC
October 2004