Publications by authors named "Julie Steffann"

53Publications

Biallelic IARS2 mutations presenting as sideroblastic anemia.

Haematologica 2020 Dec 17;Online ahead of print. Epub 2020 Dec 17.

Federation of Medical Genetics and Reference Center for Mitochondrial Diseases (CARAMMEL), Hospital Necker - Enfants Malades, Paris, France; Metabolic Clinic, Women's and Children's Hospital, North Adelaide, South Australia; Laboratory for Genetics of Mitochondrial Disorders, UMR 1163, Université de Paris, Institut Imagine, Paris.

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December 2020

Hydrothorax in fetal cases of Opitz G/BBB diagnosis: Extending the phenotype?

Clin Genet 2020 Dec 14;98(6):620-621. Epub 2020 Sep 14.

Service d'Histologie-Embryologie-Cytogénétique, Hôpital Necker-Enfants Malades, Assistance Publique - Hôpitaux de Paris, Paris, France.

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December 2020

Improving post-natal detection of mitochondrial DNA mutations.

Expert Rev Mol Diagn 2020 Oct 20;20(10):1003-1008. Epub 2020 Sep 20.

Université de Paris et Service de Génétique Moléculaire, Reference Center for Mitochondrial Diseases (CARAMMEL), Groupe Hospitalier Necker Enfants Malades, Assistance Publique-Hôpitaux de Paris , Paris, France.

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October 2020

CTG Expansion in the DMPK Gene: Semen Quality Assessment and Outcome of Preimplantation Genetic Diagnosis.

J Clin Endocrinol Metab 2020 03;105(3)

Reproductive Biology Unit CECOS, Paris-Saclay University, Antoine Béclère Hospital, APHP Clamart, France.

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March 2020

Mitochondrial myopathy plus due to the variant m.586G > A in MT-TF.

Mol Genet Metab Rep 2019 Dec 23;21:100522. Epub 2019 Oct 23.

Fédération de Génétique et Institut Imagine, Université Paris Descartes, Hôpital Necker Enfants Malades, Paris, France.

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December 2019

Expanding the clinical spectrum of mutations.

Mol Genet Metab Rep 2019 Dec 13;21:100501. Epub 2019 Aug 13.

Fédération de Génétique et Institut Imagine, Université Paris Descartes, Hôpital Necker Enfants Malades, Paris.

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December 2019

Clinical utility gene card: for incontinentia pigmenti.

Eur J Hum Genet 2019 12 9;27(12):1894-1900. Epub 2019 Jul 9.

Institute of Genetics and Biophysics "Adriano Buzzati-Traverso", IGB-CNR, Naples, 80131, Italy.

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December 2019

After the Storm - A Responsible Path for Genome Editing.

N Engl J Med 2019 Mar 16;380(10):897-899. Epub 2019 Jan 16.

From Harvard Medical School, Boston (G.Q.D.); the Francis Crick Institute, London (R.L.-B.); and Université Paris Descartes, Imagine Inserm UMR1163, Service de Génétique Moléculaire, Hôpital Necker-Enfants Malades, Paris (J.S.).

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March 2019

Pitfalls in molecular diagnosis of Friedreich ataxia.

Eur J Med Genet 2018 Aug 9;61(8):455-458. Epub 2018 Mar 9.

Université Paris Descartes - Sorbonne Paris Cité, Institut Imagine, INSERM UMR1163, Laboratoire des Maladies Mitochondriales, Paris, France; Service de Génétique, Groupe hospitalier Necker Enfants Malades, Assistance Publique -Hôpitaux de Paris, Paris, France. Electronic address:

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August 2018

Could Failure in Preimplantation Genetic Diagnosis Justify Editing the Human Embryo Genome?

Cell Stem Cell 2018 04 8;22(4):481-482. Epub 2018 Feb 8.

AP-HP, Biologie de la reproduction, Université Paris-Sud, Université Paris-Saclay, Hôpital Antoine-Béclère, Clamart, F-92140 France.

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April 2018

[Nuclear transfer to prevent transmission of mtDNA disorders: where are we?]

Med Sci (Paris) 2017 Jun-Jul;33(6-7):642-645. Epub 2017 Jul 19.

AP-HP, Biologie de la Reproduction, Université Paris-Sud, Université Paris-Saclay, Hôpital Antoine-Béclère Clamart, F-92140, France.

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June 2018