Perrine Pennamen

Centre Hospitalier Universitaire de Bordeaux — France

Biochemistry, Genetics and Molecular Biology · Life Sciences

13h-index1.1kcitations31works5.62yr avg
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Research Topics

melanin and skin pigmentation(8), Genomic variations and chromosomal abnormalities(6), Biochemical Analysis and Sensing Techniques(4), RNA regulation and disease(4), Genomics and Chromatin Dynamics(3)

Publications30 total

PubMatcher: a web app to streamline genomic data interpretation with automated bibliographic research
2025Open Access
Possible incomplete penetrance of Xq28 int22h‐1/int22h‐2 duplication
Clinical Genetics·2024· 2 citedOpen Access
Author response for "Possible incomplete penetrance of Xq28 int22h-1/int22h-2 duplication"
2024
Author response for "Possible incomplete penetrance of Xq28 int22h-1/int22h-2 duplication"
2024
Cell cycle arrest and p53 prevent ON-target megabase-scale rearrangements induced by CRISPR-Cas9
Nature Communications·2023· 28 citedOpen Access
SRSF1 haploinsufficiency is responsible for a syndromic developmental disorder associated with intellectual disability
The American Journal of Human Genetics·2023· 24 citedOpen Access
Clinical and genomic delineation of the new proximal 19p13.3 microduplication syndrome
American Journal of Medical Genetics Part A·2022· 6 cited
CRISPR-Cas9 globin editing can induce megabase-scale copy-neutral losses of heterozygosity in hematopoietic cells
Nature Communications·2021· 83 citedOpen Access
Evidence of mosaicism in SPAST variant carriers in four French families
European Journal of Human Genetics·2021· 3 citedOpen Access
Recherche et caractérisation de nouveaux gènes impliqués dans l’albinisme.
Oskar-Bordeaux (Universite de Bordeaux)·2021Open Access
Dopachrome tautomerase variants in patients with oculocutaneous albinism
Genetics in Medicine·2020· 54 citedOpen Access
Novel variants in the <i>BLOC1S3</i> gene in patients presenting a mild form of Hermansky–Pudlak syndrome
Pigment Cell & Melanoma Research·2020· 10 cited
Dopachrome tautomerase variants in patients with oculocutaneous albinism
2020· 12 citedOpen Access
Expanding the genotypic and phenotypic spectrum of severe serine biosynthesis disorders
Human Mutation·2020· 20 citedOpen Access
BLOC1S5 pathogenic variants cause a new type of Hermansky–Pudlak syndrome
Genetics in Medicine·2020· 76 citedOpen Access
Human interleukin-2 receptor beta mutations associated with defects in immunity and peripheral tolerance
The Journal of Immunology·2019· 6 cited
Human interleukin-2 receptor β mutations associated with defects in immunity and peripheral tolerance
The Journal of Experimental Medicine·2019· 88 citedOpen Access
PADDAS syndrome associated with hair dysplasia caused by a de novo missense variant of <i>PUM1</i>
American Journal of Medical Genetics Part A·2019· 7 cited
CRISPR-Cas9 genome editing induces megabase-scale chromosomal truncations
Nature Communications·2019· 460 citedOpen Access
Clinical and molecular findings of <i>FRMD7</i> related congenital nystagmus as adifferential diagnosis of ocular albinism
Ophthalmic Genetics·2019· 4 cited
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Frequent Co-authors

Caroline Rooryck(18), Benoı̂t Arveiler(12), Didier Lacombe(10), Eulalie Lasseaux(9), Claudio Plaisant(8), Vincent Michaud(7), Aurélien Trimouille(7), Angèle Tingaud‐Sequeira(6), Jérôme Toutain(5), Patrick Callier(5), Fanny Morice‐Picard(4), Sophie Naudion(4), Julie Bouron(4), Charles Coutton(4), Klaus Dieterich(4), Gaëlle Vieville(4), Paul Kuentz(4), Marlène Rio(4), Grégoire Cullot(3), Julian Boutin(3)