Skip to content

Home Search Authors Pakistan News Saved

SciRah

SciRah does not host or store research papers. Results come live from free, official scholarly APIs, and every paper links back to its original source.

Data sources

OpenAlex
Semantic Scholar
Crossref
CORE
arXiv
PubMed

Privacy policy Terms of service

Pauline Marzin · SciRah

Researcher profile · Semantic Scholar

Pauline Marzin

Share profile

Pauline Marzin — researcher profile on SciRah

h-index: 11
Works: 28
Citations: 449

Most-cited papers

Genetic and phenotypic dissection of 1q43q44 microdeletion syndrome and neurodevelopmental phenotypes associated with mutations in ZBTB18 and HNRNPU
C. Depienne, C. Nava, B. Keren, S. Heide +57 more
2017Human Genetics76 citations Open access
Semantic Scholar
IQSEC2-related encephalopathy in males and females: a comparative study including 37 novel patients
C. Mignot, A. McMahon, C. Bar, Philippe M. Campeau +82 more
2018Genetics in Medicine62 citations Open access
Semantic Scholar
PFMG2025–integrating genomic medicine into the national healthcare system in France
Caroline Abadie, Aldja Abderrahmane, Ouarda Abdous, Carine Abel +496 more
2025The Lancet Regional Health - Europe61 citations Open access
Semantic Scholar
New perspectives on the treatment of skeletal dysplasia
Pauline Marzin, V. Cormier-Daire
2020Therapeutic Advances in Endocrinology and Metabolism44 citations Open access
Semantic Scholar
Geleophysic and acromicric dysplasias: natural history, genotype–phenotype correlations, and management guidelines from 38 cases
Pauline Marzin, B. Thierry, A. Dancasius, A. Cavau +11 more
2020Genetics in Medicine36 citations Open access
Semantic Scholar
SETD2 related overgrowth syndrome: Presentation of four new patients and review of the literature
Pauline Marzin, S. Rondeau, K. Aldinger, J. Alessandri +5 more
2019American Journal of Medical Genetics. Part C, Seminars in Medical Genetics33 citations
Semantic Scholar
Early-onset encephalopathy with paroxysmal movement disorders and epileptic seizures without hemiplegic attacks: About three children with novel ATP1A3 mutations.
Pauline Marzin, C. Mignot, N. Dorison, L. Dufour +17 more
2018Brain & development (Tokyo. 1979)20 citations
Semantic Scholar
Biallelic loss-of-function variants in WBP4, encoding a spliceosome protein, result in a variable neurodevelopmental syndrome.
Eden Engal, K. Oja, R. Maroofian, Ophir Geminder +27 more
2023American Journal of Human Genetics16 citations Open access
Semantic Scholar
Potential selection of genetically balanced spermatozoa based on the hypo-osmotic swelling test in chromosomal rearrangement carriers.
A. Rouen, L. Carlier, S. Heide, M. Egloff +10 more
2017Reproductive Biomedicine Online16 citations Open access
Semantic Scholar
Weill-Marchesani syndrome: natural history and genotype-phenotype correlations from 18 news cases and review of literature
Pauline Marzin, S. Rondeau, J. Alessandri, K. Dieterich +13 more
2023Journal of Medical Genetics15 citations
Semantic Scholar
Interplay between Histone and DNA Methylation Seen through Comparative Methylomes in Rare Mendelian Disorders
Guillaume Velasco, D. Ulveling, S. Rondeau, Pauline Marzin +3 more
2021International Journal of Molecular Sciences12 citations Open access
Semantic Scholar
Heterozygous FGFR1 mutation may be responsible for an incomplete form of osteoglophonic dysplasia, characterized only by radiolucent bone lesions and teeth retentions.
Pauline Marzin, G. Baujat, D. Gensburger, C. Huber +5 more
2020European Journal of Medical Genetics11 citations Open access
Semantic Scholar
Mutations in the Key Autophagy Tethering Factor EPG5 Link Neurodevelopmental and Neurodegenerative Disorders Including Early‐Onset Parkinsonism
H. Dafsari, Celine Deneubourg, Kritarth Singh, R. Maroofian +137 more
2025Annals of Neurology8 citations Open access
Semantic Scholar
Clinico-biological refinement of BCL11B-related disorder and identification of an episignature: a series of 20 unreported individuals.
Quentin Sabbagh, S. Haghshenas, J. Piard, Chloé Trouvé +62 more
2023Genetics in Medicine8 citations Open access
Semantic Scholar
Clinical, Neuroimaging, and Metabolic Footprint of the Neurodevelopmental Disorder Caused by Monoallelic HK1 Variants
Saskia B. Wortmann, R. Feichtinger, L. Abela, Loes A. van Gemert +31 more
2024Neurology: Genetics7 citations Open access
Semantic Scholar
Mutations in EPG5 are associated with a wide spectrum of neurodevelopmental and neurodegenerative disorders
H. Dafsari, Celine Deneubourg, Kritarth Singh, R. Maroofian +123 more
2024medRxiv5 citations Open access
Semantic Scholar
Clinical, genetic and biochemical signatures of RBP4-related ocular malformations
J. Plaisancié, J. Martinovic, Bertrand Chesneau, S. Whalen +9 more
2023Journal of Medical Genetics4 citations Open access
Semantic Scholar
Sleep‐disordered breathing and its management in children with rare skeletal dysplasias
Duy-Bo Nguyen, S. Khirani, L. Griffon, G. Baujat +9 more
2021American Journal of Medical Genetics. Part A4 citations
Semantic Scholar
A 14q distal chromoanagenesis elucidated by whole genome sequencing.
Flavie Ader, S. Heide, Pauline Marzin, A. Afenjar +7 more
2020European Journal of Medical Genetics3 citations Open access
Semantic Scholar
Correction: IQSEC2-related encephalopathy in males and females: a comparative study including 37 novel patients
C. Mignot, A. McMahon, C. Bar, Philippe M. Campeau +82 more
2018Genetics in Medicine3 citations Open access
Semantic Scholar
Genome sequencing for the diagnosis of intellectual disability as a paradigm for rare diseases in the French healthcare setting: the prospective DEFIDIAG study
S. El Chehadeh, S. Heide, C. Quélin, Marlène Rio +236 more
2025Genome Medicine2 citations Open access
Semantic Scholar
LSM7 variants involving key amino acids for LSM complex function cause a neurodevelopmental disorder with leukodystrophy and cerebellar atrophy
Matis Crespin, Karine Siquier-Pernet, Pauline Marzin, C. Bôle-Feysot +9 more
2024HGG advances2 citations Open access
Semantic Scholar
Rare features in Feingold syndrome type 1.
Fanny Ferroul, Sarah Snanoudj, G. Leterme, Kheira Mezouaghi +14 more
2025European Journal of Medical Genetics1 citations Open access
Semantic Scholar
An intermediate phenotype in IDH related enchondromatosis spectrum.
Elif Yilmaz-Gulec, Pauline Marzin, Céline Huber-Lequesne, V. Cormier-Daire
2023European Journal of Medical Genetics1 citations
Semantic Scholar
Identification of an episignature for CHD3-related Snijders Blok-Campeau syndrome reveals heterogeneity in the CHARGE syndrome episignature: towards a better characterisation of chromatinopathies
A. Santini, Angelo Tognon, A. Richard, Guillaume Velasco +46 more
2026Genome Medicine0 citations Open access
Semantic Scholar
Hearing outcomes after cochlear implantation in two patients with ATP6V1B2-related deafness and onychodystrophy.
Sarah Chamieh, Pauline Marzin, Sophie Achard, Pierre Blanc +5 more
2026European Journal of Medical Genetics0 citations Open access
Semantic Scholar
Supernumerary chromosome 6 marker associated with paternal uniparental isodisomy of chromosome 6 in a patient with a syndromic disorder of insulin secretion.
Marion Lesieur-Sebellin, Pauline Marzin, J. Arnoux, Marie-Laure Maurin +6 more
2023European Journal of Medical Genetics0 citations
Semantic Scholar
Inside Solaris: Sunos and Openwindows
K. Kitalong, Steven R. Lee, Pauline Marzin
19920 citations
Semantic Scholar

Frequent co-authors

Invite them to SciRah by sharing their profile.

V. Cormier-Daire×9
Invite
V. Cormier-Daire — researcher profile on SciRah
B. Keren×8
Invite
B. Keren — researcher profile on SciRah
S. Heide×6
Invite
S. Heide — researcher profile on SciRah
S. Rondeau×6
Invite
S. Rondeau — researcher profile on SciRah

×5

Invite

D. Heron — researcher profile on SciRah

Invite

C. Mignot — researcher profile on SciRah

Invite

A. Bruel — researcher profile on SciRah

D. Geneviève×5

Invite

D. Geneviève — researcher profile on SciRah

Invite

C. Michot — researcher profile on SciRah

Invite

C. Depienne — researcher profile on SciRah

Invite

C. Nava — researcher profile on SciRah

Invite

B. Isidor — researcher profile on SciRah