P. Pennamen

发表

CRISPR-Cas9 genome editing induces megabase-scale chromosomal truncations

G. Cullot, J. Boutin, J. Toutain, 2019, Nature Communications.

Interest of chromosomal microarray analysis in the prenatal diagnosis of fetal intrauterine growth restriction

J. Toutain, P. Pennamen, C. Rooryck, 2018, Prenatal diagnosis.

Clinical and genomic delineation of the new proximal 19p13.3 microduplication syndrome

Olivier Tassy, P. Pennamen, C. Rooryck, 2022, American journal of medical genetics. Part A.

An in-frame deletion in BICD2 associated with a non-progressive form of SMALED

A. Durr, G. Stevanin, P. Pennamen, 2018, Clinical Neurology and Neurosurgery.

Mild form of oculocutaneous albinism type 1: phenotypic analysis of compound heterozygous patients with the R402Q variant of the TYR gene

P. Pennamen, J. Korobelnik, D. Bonneau, 2018, British Journal of Ophthalmology.

Dopachrome tautomerase variants in patients with oculocutaneous albinism

I. Jackson, P. Pennamen, D. Lacombe, 2020, Genetics in Medicine.

BLOC1S5 pathogenic variants cause a new type of Hermansky–Pudlak syndrome

P. Pennamen, M. Marks, D. Lacombe, 2020, Genetics in Medicine.

Molecular characterization of a series of 990 index patients with albinism

P. Pennamen, C. Rooryck, D. Lacombe, 2018, Pigment cell & melanoma research.

Expanding the genotypic and phenotypic spectrum of severe serine biosynthesis disorders

K. Mathews, A. Toutain, P. Shannon, 2020, Human mutation.

Balanced complex chromosome rearrangement in male infertility: case report and literature review

P. Pennamen, P. Parent, M. Braekeleer, 2015, Andrologia.

CRISPR-Cas9 globin editing can induce megabase-scale copy-neutral losses of heterozygosity in hematopoietic cells

D. Cappellen, G. Cullot, J. Boutin, 2021, Nature Communications.

Deletion in 2q35 excluding the IHH gene leads to fetal severe limb anomalies and suggests a disruption of chromatin architecture

P. Fergelot, P. Pennamen, C. Rooryck, 2018, European Journal of Human Genetics.

Human interleukin-2 receptor β mutations associated with defects in immunity and peripheral tolerance

Kenneth G. C. Smith, R. Döffinger, Y. Modis, 2019, The Journal of experimental medicine.

PADDAS syndrome associated with hair dysplasia caused by a de novo missense variant of PUM1

P. Fergelot, P. Pennamen, C. Rooryck, 2019, American journal of medical genetics. Part A.

Clinical and molecular findings of FRMD7 related congenital nystagmus as adifferential diagnosis of ocular albinism

P. Pennamen, E. Lasseaux, B. Arveiler, 2019, Ophthalmic genetics.

CRISPR-Cas9 genome editing induces megabase-scale chromosomal truncations

G. Cullot, J. Boutin, J. Toutain, 2019, Nature Communications.

Evidence of mosaicism in SPAST variant carriers in four French families

C. Depienne, G. Stevanin, P. Pennamen, 2021, European Journal of Human Genetics.

SRSF1 haploinsufficiency is responsible for a syndromic developmental disorder associated with intellectual disability

J. Rosenfeld, E. Roeder, J. Lupski, 2023, American journal of human genetics.

Human IL-2 receptor β mutations associated with defects in immunity and peripheral tolerance

Y. Modis, L. Notarangelo, P. Pennamen, 2018, bioRxiv.

Deletion in 2q35 excluding the IHH gene leads to fetal severe limb anomalies and suggests a disruption of chromatin architecture

P. Fergelot, P. Pennamen, C. Rooryck, 2018, European Journal of Human Genetics.

Cell cycle arrest and p53 prevent ON-target megabase-scale rearrangements induced by CRISPR-Cas9

D. Cappellen, G. Cullot, J. Boutin, 2023, Nature Communications.

Novel variants in the BLOC1S3 gene in patients presenting a mild form of Hermansky–Pudlak syndrome

P. Pennamen, D. Lacombe, F. Giuliano, 2020, Pigment cell & melanoma research.