Publications by authors named "Elise Fiala"

11Publications

Reticular dysgenesis caused by an intronic pathogenic variant in .

Cold Spring Harb Mol Case Stud 2020 06 12;6(3). Epub 2020 Jun 12.

MSK Kids, Department of Pediatrics, Memorial Sloan Kettering Cancer Center, New York, New York 10065, USA.

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http://dx.doi.org/10.1101/mcs.a005017DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC7304357PMC
June 2020

De novo TBR1 variants cause a neurocognitive phenotype with ID and autistic traits: report of 25 new individuals and review of the literature.

Eur J Hum Genet 2020 Jun 31;28(6):770-782. Epub 2020 Jan 31.

Centre de Génétique et Centre de Référence Maladies Rares (Anomalies du Développement de l'Interrégion Est), Hôpital d'Enfants, CHU Dijon Bourgogne, Dijon, France.

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http://dx.doi.org/10.1038/s41431-020-0571-6DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC7253452PMC
June 2020

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

Risk-modeling of dog osteosarcoma genome scans shows individuals with Mendelian-level polygenic risk are common.

BMC Genomics 2019 Mar 19;20(1):226. Epub 2019 Mar 19.

Department of Veterinary Clinical Sciences, The Ohio State University College of Veterinary Medicine, Columbus, OH, USA.

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http://dx.doi.org/10.1186/s12864-019-5531-6DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6425649PMC
March 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

CEDNIK: Phenotypic and Molecular Characterization of an Additional Patient and Review of the Literature.

Child Neurol Open 2017 Jan-Dec;4:2329048X17733214. Epub 2017 Oct 8.

Division of Genetics and Genomic Medicine, Department of Pediatrics, Washington University School of Medicine, St Louis, MO, USA.

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http://dx.doi.org/10.1177/2329048X17733214DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5638153PMC
October 2017

The Exome Clinic and the role of medical genetics expertise in the interpretation of exome sequencing results.

Genet Med 2017 09 2;19(9):1040-1048. Epub 2017 Mar 2.

Division of Genetics and Genomic Medicine, Department of Pediatrics, Washington University School of Medicine, St. Louis, Missouri, USA.

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http://dx.doi.org/10.1038/gim.2016.224DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5581723PMC
September 2017

Comparative genomics of canine hemoglobin genes reveals primacy of beta subunit delta in adult carnivores.

BMC Genomics 2017 02 8;18(1):141. Epub 2017 Feb 8.

Center for Molecular and Human Genetics, The Research Institute at Nationwide Children's Hospital, Columbus, OH, USA.

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http://dx.doi.org/10.1186/s12864-017-3513-0DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5299747PMC
February 2017