Solveig Heide

Solveig Heide

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Solveig Heide

Solveig Heide

Publications by authors named "Solveig Heide"

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17Publications

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A 14q distal chromoanagenesis elucidated by whole genome sequencing.

Eur J Med Genet 2019 Sep 25:103776. Epub 2019 Sep 25.

Service de Génétique, Laboratoire de Cytogénétique Constitutionnelle, Hospices Civils de Lyon, Bron, France; GENDEV Team, Neurosciences Research Center of Lyon, INSERM U1028, CNRS UMR5292, UCBL1, 69677, Bron, France.

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http://dx.doi.org/10.1016/j.ejmg.2019.103776DOI Listing
September 2019

Heterozygous Variants in KMT2E Cause a Spectrum of Neurodevelopmental Disorders and Epilepsy.

Am J Hum Genet 2019 Jun 9;104(6):1210-1222. Epub 2019 May 9.

Division of Genetics and Genomics, Boston Children's Hospital, Harvard Medical School, Boston, MA 02115, USA; Department of Neurology, 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.2019.03.021DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6556837PMC
June 2019

Double chromosomal translocation in an infertile man: one-step FISH meiotic segregation analysis and reproductive prognosis.

J Assist Reprod Genet 2019 May 8;36(5):973-978. Epub 2019 Mar 8.

Département de Génétique Médicale, Assistance Publique-Hôpitaux de Paris, Hôpital Armand Trousseau, Unité INSERM 933, 26 avenue du Dr Arnold Netter, 75012, Paris, France.

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http://dx.doi.org/10.1007/s10815-019-01430-zDOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6541678PMC
May 2019

A Syndromic Neurodevelopmental Disorder Caused by Mutations in SMARCD1, a Core SWI/SNF Subunit Needed for Context-Dependent Neuronal Gene Regulation in Flies.

Am J Hum Genet 2019 Apr 14;104(4):596-610. Epub 2019 Mar 14.

Centre Hospitalier Universitaire Sainte-Justine Research Center, University of Montreal, Montreal, QC H3T 1C5, Canada; Department of Pediatrics, University of Montreal, Montreal, QC H4A 3J1, Canada. Electronic address:

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http://dx.doi.org/10.1016/j.ajhg.2019.02.001DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6451697PMC
April 2019

Copy Number Variations Found in Patients with a Corpus Callosum Abnormality and Intellectual Disability.

J Pediatr 2017 06 8;185:160-166.e1. Epub 2017 Mar 8.

APHP, GH Pitié Salpêtrière, Department of genetics, unit of medical genetics, reference center for intellectual disabilities of rare causes, Paris, France; GRC Intellectual Disability and Autism, UPMC, Paris, France; Sorbonne Universités, UPMC Univ Paris 06, UMR S 1127, Inserm U 1127, CNRS UMR 7225, ICM, Paris, France; APHP, Hôpital Armand-Trousseau, Department of genetics, Division of clinical genetics, Paris, France.

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http://dx.doi.org/10.1016/j.jpeds.2017.02.023DOI Listing
June 2017

ARID1B mutations are the major genetic cause of corpus callosum anomalies in patients with intellectual disability.

Brain 2016 11;139(11):e64

Assistance Publique-Hôpitaux de Paris, Département de Génétique and Centre de Référence Déficiences Intellectuelles de Causes Rares and GRC UPMC "Déficiences Intellectuelles et Autisme", Groupe Hospitalier Pitié-Salpêtrière, Paris, France.

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http://dx.doi.org/10.1093/brain/aww181DOI Listing
November 2016

Xp21 deletion in female patients with intellectual disability: Two new cases and a review of the literature.

Eur J Med Genet 2015 Jun-Jul;58(6-7):341-5. Epub 2015 Apr 23.

APHP, Hôpital Armand-Trousseau, Service de Génétique et d'Embryologie médicales, Paris, 75012, France.

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http://dx.doi.org/10.1016/j.ejmg.2015.04.003DOI Listing
March 2016

Nuclear volume differences between balanced and unbalanced spermatozoa in chromosomal translocation carriers.

Reprod Biomed Online 2015 Mar 4;30(3):290-5. Epub 2014 Dec 4.

Service de Génétique et Embryologie Médicales, Hôpital Armand-Trousseau, AP-HP, Unité INSERM U933, 26 Avenue du Dr Arnold Netter, Paris 75012, France.

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http://dx.doi.org/10.1016/j.rbmo.2014.10.019DOI Listing
March 2015