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Sophie Brisset

Observed names: Brisset, S., Brisset, Sophie, S Brisset, S. Brisset
Observed institutions: Université Paris-Sud, Hôpital Necker-Enfants Malades, Inserm, Université Paris-Saclay, Assistance Publique – Hôpitaux de Paris, Hôpital Antoine-Béclère, Centre Hospitalier de Versailles, Mita Hospital, Hôpitaux universitaires Paris Sud, Institut Curie
ORCID: 0009-0004-2151-768X
Observed ORCID: 0009-0004-2151-768X
OpenAlex ID: A5024986238
SEMA3A deletion in a family with Kallmann syndrome validates the role of semaphorin 3A in human puberty and olfactory system development
2012 · Jacques Young, Corinne Metay, et al. · Human Reproduction · 145
Cytogenetic, molecular and testicular tissue studies in an infertile 45,X male carrying an unbalanced (Y;22) translocation: Case report
2005 · S. Brisset, V. Izard, et al. · Human Reproduction · 107
Molecular cytogenetic characterization of a 4p15.1‐pter duplication and a 4q35.1‐qter deletion in a recombinant of chromosome 4 pericentric inversion
2009 · M‐L. Maurin, P. Labrune, et al. · American Journal of Medical Genetics Part A · 87
Discordant prenatal diagnosis of trisomy 21 due to mosaic structural rearrangements of chromosome 21
2003 · Sophie Brisset, Azzedine Aboura, et al. · Prenatal Diagnosis · 86
Recurrent 70.8 Mb 4q22.2q32.3 duplication due to ovarian germinal mosaicism
2010 · Lucie Tosca, Sophie Brisset, et al. · European Journal of Human Genetics · 82
Chromosomal breakpoints characterization of two supernumerary ring chromosomes 20
2010 · N. Guediche, S. Brisset, et al. · American Journal of Medical Genetics Part A · 77
A French collaborative survey of 272 fetuses with 22q11.2 deletion: ultrasound findings, fetal autopsies and pregnancy outcomes
2014 · J. Besseau-Ayasse, C. Violle-Poirsier, et al. · Prenatal Diagnosis · 64
Molecular characterization of partial trisomy 16q24.1‐qter: Clinical report and review of the literature
2002 · S. Brisset, G. Joly, et al. · American Journal of Medical Genetics · 49
CGH analysis of secondary genetic changes in Ewing tumors:
2001 · Sophie Brisset, Gudrun Schleiermacher, et al. · Cancer Genetics and Cytogenetics · 45
Inherited 1q21.1q21.2 duplication and 16p11.2 deletion: A two-hit case with more severe clinical manifestations
2015 · Sophie Brisset, Yline Capri, et al. · European Journal of Medical Genetics · 42
Small Supernumerary Marker Chromosomes in Human Infertility
2015 · Narjes Armanet, Lucie Tosca, et al. · Cytogenetic and Genome Research · 37
A CGH study of 27 patients with CHARGE association
2002 · D Sanlaville, SP Romana, et al. · Clinical Genetics · 34
Chromosomal translocations and semen quality: A study on 144 male translocation carriers
2018 · Anne Mayeur, Naouel Ahdad, et al. · Reproductive BioMedicine Online · 33
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Terminal 14q32.33 deletion: Genotype–phenotype correlation
2006 · M‐L. Maurin, S. Brisset, et al. · American Journal of Medical Genetics Part A · 32
Fetal phenotype of Prader–Willi syndrome due to maternal disomy for chromosome 15
2003 · A. Coulomb L'Herminé, A. Aboura, et al. · Prenatal Diagnosis · 30
Genotype–phenotype correlation in 13q13.3–q21.3 deletion
2011 · Lucie Tosca, Sophie Brisset, et al. · European Journal of Medical Genetics · 23
De novo monosomy 9p24.3‐pter and trisomy 17q24.3‐qter characterised by microarray comparative genomic hybridisation in a fetus with an increased nuchal translucency
2006 · Sophie Brisset, Serdar Kasakyan, et al. · Prenatal Diagnosis · 22
Pure and complete trisomy 18p due to a supernumerary marker chromosome associated with moderate mental retardation
2007 · P. Mabboux, S. Brisset, et al. · American Journal of Medical Genetics Part A · 20
Confined blood chimerism in a monochorionic dizygotic sex discordant twin pregnancy conceived after induced ovulation
2016 · Anne Mayeur Le Bras, François Petit, et al. · Birth Defects Research Part A Clinical and Molecular Teratology · 18
Anophthalmia, hearing loss, abnormal pituitary development and response to growth hormone therapy in three children with microdeletions of 14q22q23
2014 · Sophie Brisset, Zuzana Slamova, et al. · Molecular Cytogenetics · 18
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Array comparative genomic hybridization analysis of small supernumerary marker chromosomes in human infertility
2011 · N. Guediche, L. Tosca, et al. · Reproductive BioMedicine Online · 18
Induced pluripotent stem cell generation from a man carrying a complex chromosomal rearrangement as a genetic model for infertility studies
2017 · Aurélie Mouka, Vincent Izard, et al. · Scientific Reports · 17
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Double Xp11.22 deletion including SHROOM4 and CLCN5 associated with severe psychomotor retardation and Dent disease
2015 · Narjes Armanet, Corinne Metay, et al. · Molecular Cytogenetics · 17
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Teaching invasive prenatal procedures: effectiveness of two simple simulators in training
2016 · Anne‐Gael Cordier, Florent Fuchs, et al. · Prenatal Diagnosis · 14
Tetrasomy 13q31.1qter due to an inverted duplicated neocentric marker chromosome in a fetus with multiple malformations
2012 · Véronique Haddad, Azzedine Aboura, et al. · American Journal of Medical Genetics Part A · 13
Works count: 64
Citation count: 1,259
H-index: 18
I10-index: 28
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