Publications by authors named "Alban Ziegler"

17Publications

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

Genet Med 2020 03 14;22(3):538-546. 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
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC7060121PMC
March 2020

Prenatal diagnosis of Desbuquois dysplasia type 1 by whole exome sequencing before the occurrence of specific ultrasound signs.

J Matern Fetal Neonatal Med 2019 Sep 12:1-4. Epub 2019 Sep 12.

Department of Biochemistry and Genetics, Angers University Hospital , Angers , France.

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http://dx.doi.org/10.1080/14767058.2019.1657084DOI Listing
September 2019

Confirmation that variants in TTI2 are responsible for autosomal recessive intellectual disability.

Clin Genet 2019 10 17;96(4):354-358. Epub 2019 Jul 17.

Département de Biochimie et Génétique du CHU d'Angers, Centre Hospitalier Universitaire d'Angers, Angers, France.

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http://dx.doi.org/10.1111/cge.13603DOI Listing
October 2019

A snapshot of some pLI score pitfalls.

Hum Mutat 2019 07 29;40(7):839-841. Epub 2019 Apr 29.

Biochemistry and Genetics Department, University Hospital of Angers, Angers, France.

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http://dx.doi.org/10.1002/humu.23763DOI Listing
July 2019

Noonan Syndrome: An Underestimated Cause of Severe to Profound Sensorineural Hearing Impairment. Which Clues to Suspect the Diagnosis?

Otol Neurotol 2017 09;38(8):1081-1084

*APHP, Hôpital Necker Enfants Malades, Centre de référence des surdités génétiques, Service de Génétique Médicale †APHP, Hôpital Necker Enfants Malades, Service d'otorhinolaryngologie ‡APHP, Hôpital Necker Enfants Malades, Centre de référence des surdités génétiques, Laboratoire de Génétique moléculaire §APHP, Hôpital Robert Debré ||APHP, Hôpital Necker-Enfants malades, Département de Génétique, Paris, France.

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http://dx.doi.org/10.1097/MAO.0000000000001509DOI Listing
September 2017

Extensive Mongolian spots in 4p16.3 deletion (Wolf-Hirschhorn syndrome).

Clin Dysmorphol 2014 Jul;23(3):109-10

aDepartment of Biochemistry and Genetics, Angers University Hospital bDepartment of Medical Genetics, Montpellier University Hospital cLaboratoire de Biochimie Métabolique, Institut Fédératif de Biologie, Hôpital Purpan, Toulouse, France.

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http://content.wkhealth.com/linkback/openurl?sid=WKPTLP:land
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http://dx.doi.org/10.1097/MCD.0000000000000041DOI Listing
July 2014