Florence Amblard

Patients with multiple morphological abnormalities of the sperm flagella due to<i>DNAH1</i>mutations have a good prognosis following intracytoplasmic sperm injection

Clémentine Wambergue, Raoudha Zouari, Sélima Fourati Ben Mustapha et al. · Human Reproduction · 2016 · 117 citations · Full text

Life Sciences, Genetics, Molecular Genetics +17

Whole genome paired-end sequencing elucidates functional and phenotypic consequences of balanced chromosomal rearrangement in patients with developmental disorders

Caroline Schluth‐Bolard, Flavie Diguet, Nicolas Chatron et al. · Journal of Medical Genetics · 2019 · 82 citations · Full text

Life Sciences, Genetics, Molecular Genetics +17

A French collaborative survey of 272 fetuses with 22q11.2 deletion: ultrasound findings, fetal autopsies and pregnancy outcomes

Justine Besseau-Ayasse, C. Violle-Poirsier, Anne Bazin et al. · Prenatal Diagnosis · 2014 · 60 citations

Medicine, Obstetrics, Pathology +16

<i>PBX1</i> haploinsufficiency leads to syndromic congenital anomalies of the kidney and urinary tract (CAKUT) in humans

Pauline Le Tanno, Julie Breton, Marie Bidart et al. · Journal of Medical Genetics · 2017 · 60 citations

Medicine, Genetics, Molecular Genetics +17

Physical mapping by FISH of the DiGeorge critical region (DGCR): involvement of the region in familial cases.

Chantal Desmaze, M Prieur, Florence Amblard et al. · PubMed · 1993 · 59 citations

Life Sciences, Genetics, Cytogenetics +4