Publications by authors named "Nicole Fleischer"

18Publications

Answer to Letter to the Editor regarding the article "Striking phenotypic overlap between Nicolaides-Baraitser and Coffin-Siris syndromes in monozygotic twins with ARID1B intragenic deletion".

Eur J Med Genet 2020 Oct 20;63(10):103993. Epub 2020 Jun 20.

Medical Genetics, Department of Molecular Medicine, Sapienza University, San Camillo-Forlanini Hospital, Rome, Italy.

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http://dx.doi.org/10.1016/j.ejmg.2020.103993DOI Listing
October 2020

Further delineation of the neurodevelopmental phenotypic spectrum associated to 14q11.2 microduplication.

Neurol Sci 2020 Dec 11;41(12):3751-3753. Epub 2020 Jun 11.

Medical Genetics Laboratory, Clinical Genetics Division, Department of Molecular Medicine, Sapienza University, San Camillo-Forlanini Hospital, Circonvallazione Gianicolense 87, 00152, Rome, Italy.

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http://dx.doi.org/10.1007/s10072-020-04510-6DOI Listing
December 2020

Differentiating molecular etiologies of Angelman syndrome through facial phenotyping using deep learning.

Am J Med Genet A 2020 09 11;182(9):2021-2026. Epub 2020 Jun 11.

Department of Genetic Medicine, Munroe-Meyer Institute, University of Nebraska Medical Center, Omaha, Nebraska, USA.

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http://dx.doi.org/10.1002/ajmg.a.61720DOI Listing
September 2020

A novel patient with White-Sutton syndrome refines the mutational and clinical repertoire of the POGZ-related phenotype and suggests further observations.

Am J Med Genet A 2020 07 2;182(7):1791-1795. Epub 2020 May 2.

Medical Genetics, Department of Molecular Medicine, Sapienza University, San Camillo-Forlanini Hospital, Rome, Italy.

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http://dx.doi.org/10.1002/ajmg.a.61605DOI Listing
July 2020

Shared facial phenotype of patients with mucolipidosis type IV: A clinical observation reaffirmed by next generation phenotyping.

Eur J Med Genet 2020 Jul 13;63(7):103927. Epub 2020 Apr 13.

The Institute for Rare Diseases, The Edmond and Lily Safra Children's Hospital, Sheba Medical Center, Tel-Hashomer, Israel; Sackler Faculty of Medicine, Tel-Aviv University, Tel-Aviv, Israel. Electronic address:

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http://dx.doi.org/10.1016/j.ejmg.2020.103927DOI Listing
July 2020

But what will the results be?: Learning to tolerate uncertainty is associated with treatment-produced gains.

J Anxiety Disord 2019 Dec 21;68:102146. Epub 2019 Sep 21.

Department of Psychology, Temple University, 1701 North 13th Street, 6th Floor, Philadelphia, PA 19122, United States. Electronic address:

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http://dx.doi.org/10.1016/j.janxdis.2019.102146DOI Listing
December 2019

Striking phenotypic overlap between Nicolaides-Baraitser and Coffin-Siris syndromes in monozygotic twins with ARID1B intragenic deletion.

Eur J Med Genet 2020 Mar 14;63(3):103739. Epub 2019 Aug 14.

Medical Genetics Laboratory, Department of Molecular Medicine, Sapienza University, San Camillo-Forlanini Hospital, Rome, Italy.

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http://dx.doi.org/10.1016/j.ejmg.2019.103739DOI Listing
March 2020

PEDIA: prioritization of exome data by image analysis.

Genet Med 2019 12 5;21(12):2807-2814. Epub 2019 Jun 5.

Institute of Genomic Statistics and Bioinformatics, University of Bonn, Bonn, Germany.

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http://dx.doi.org/10.1038/s41436-019-0566-2DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6892739PMC
December 2019

The facial dysmorphology analysis technology in intellectual disability syndromes related to defects in the histones modifiers.

J Hum Genet 2019 Aug 13;64(8):721-728. Epub 2019 May 13.

Medical Genetics Laboratory, Department of Molecular Medicine, Sapienza University, San Camillo-Forlanini Hospital, Rome, Italy.

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http://dx.doi.org/10.1038/s10038-019-0598-0DOI Listing
August 2019

Identifying facial phenotypes of genetic disorders using deep learning.

Nat Med 2019 01 7;25(1):60-64. Epub 2019 Jan 7.

Division of Medical Genetics, A. I. du Pont Hospital for Children/Nemours, Wilmington, DE, USA.

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http://dx.doi.org/10.1038/s41591-018-0279-0DOI Listing
January 2019

Advances in computer-assisted syndrome recognition by the example of inborn errors of metabolism.

J Inherit Metab Dis 2018 05 5;41(3):533-539. Epub 2018 Apr 5.

Institute of Human Genetics and Medical Genetics, Charité - Universitätsmedizin Berlin, corporate member of Freie Universität Berlin, Humboldt-Universität zu Berlin, and Berlin Institute of Health, Berlin, Germany.

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http://dx.doi.org/10.1007/s10545-018-0174-3DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5959962PMC
May 2018