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

P. Kuentz · SciRah

Researcher profile · Semantic Scholar

P. Kuentz

Share profile

P. Kuentz — researcher profile on SciRah

h-index: 29
Works: 131
Citations: 2,679

Most-cited papers

Pathogenic DDX3X mutations impair RNA metabolism and neurogenesis during fetal cortical development
Ashley L. Lennox, Mariah L. Hoye, Ruiji Jiang, B. Johnson-Kerner +50 more
2018bioRxiv187 citations Open access
Semantic Scholar
HCN1 mutation spectrum: from neonatal epileptic encephalopathy to benign generalized epilepsy and beyond
C. Marini, A. Porro, A. Rastetter, C. Dalle +66 more
2018Brain : a journal of neurology118 citations Open access
Semantic Scholar
Lysosomal Signaling Licenses Embryonic Stem Cell Differentiation via Inactivation of Tfe3.
Florian Villegas, D. Lehalle, Daniela Mayer, Melanie Rittirsch +25 more
2019Cell Stem Cell111 citations Open access
Semantic Scholar
NR2F1 regulates regional progenitor dynamics in the mouse neocortex and cortical gyrification in BBSOAS patients
Michele Bertacchi, A. Romano, A. Loubat, F. Tran Mau-Them +16 more
2020EMBO Journal69 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
Biallelic pathogenic variants in the lanosterol synthase gene LSS involved in the cholesterol biosynthesis cause alopecia with intellectual disability, a rare recessive neuroectodermal syndrome
T. Besnard, N. Sloboda, A. Goldenberg, S. Küry +35 more
2019Genetics in Medicine59 citations Open access
Semantic Scholar
STAG1 mutations cause a novel cohesinopathy characterised by unspecific syndromic intellectual disability
D. Lehalle, Anne-Laure Mosca-Boidron, A. Begtrup, O. Boute‐Bénéjean +33 more
2017Journal of Medical Genetics58 citations Open access
Semantic Scholar
A standard of care for individuals with PIK3CA-related disorders: an international expert consensus statement
S. Douzgou, M. Rawson, E. Baselga, M. Danielpour +16 more
2021Clinical Genetics50 citations Open access
Semantic Scholar
Chromosomal microarray analysis in fetuses with an isolated congenital heart defect: A retrospective, nationwide, multicenter study in France
Marguerite Hureaux, S. Guterman, B. Hervé, M. Till +21 more
2019Prenatal Diagnosis41 citations
Semantic Scholar
MED13L-related intellectual disability: involvement of missense variants and delineation of the phenotype
T. Smol, F. Petit, A. Piton, B. Keren +62 more
2018Neurogenetics41 citations Open access
Semantic Scholar
Postzygotic inactivating mutations of RHOA cause a mosaic neuroectodermal syndrome
Pierre Vabres, A. Sorlin, S. Kholmanskikh, B. Demeer +27 more
2019Nature Genetics40 citations Open access
Semantic Scholar
Reverse phenotyping in patients with skin capillary malformations and mosaic GNAQ or GNA11 mutations defines a clinical spectrum with genotype-phenotype correlation.
M. Jordan, V. Carmignac, A. Sorlin, P. Kuentz +25 more
2019Journal of Investigative Dermatology40 citations Open access
Semantic Scholar
Integrative approach to interpret DYRK1A variants, leading to a frequent neurodevelopmental disorder
Jérémie Courraud, Eric J Chater-Diehl, B. Durand, M. Vincent +66 more
2021Genetics in Medicine37 citations Open access
Semantic Scholar
Application of whole‐exome sequencing to unravel the molecular basis of undiagnosed syndromic congenital neutropenia with intellectual disability
Alexandra Gauthier-Vasserot, C. Thauvin-Robinet, A. Bruel, Y. Duffourd +20 more
2017American Journal of Medical Genetics. Part A34 citations
Semantic Scholar
1p36 deletion syndrome: Review and mapping with further characterization of the phenotype, a new cohort of 86 patients
Clémence Jacquin, E. Landais, C. Poirsier, A. Afenjar +44 more
2022American Journal of Medical Genetics. Part A33 citations Open access
Semantic Scholar
AICA‐ribosiduria due to ATIC deficiency: Delineation of the phenotype with three novel cases, and long‐term update on the first case
F. Ramond, M. Rio, B. Héron, A. Imbard +8 more
2020Journal of Inherited Metabolic Disease32 citations Open access
Semantic Scholar
Genotype-first in a cohort of 95 fetuses with multiple congenital abnormalities: when exome sequencing reveals unexpected fetal phenotype-genotype correlations
M. Lefebvre, A. Bruel, É. Tisserant, N. Bourgon +52 more
2020Journal of Medical Genetics32 citations
Semantic Scholar
Recessive loss of function PIGN alleles, including an intragenic deletion with founder effect in La Réunion Island, in patients with Fryns syndrome
J. Alessandri, C. Gordon, M. Jacquemont, N. Gruchy +22 more
2018European Journal of Human Genetics31 citations Open access
Semantic Scholar
Clinical spectrum of MTOR-related hypomelanosis of Ito with neurodevelopmental abnormalities
V. Carmignac, C. Mignot, E. Blanchard, P. Kuentz +40 more
2021Genetics in Medicine27 citations Open access
Semantic Scholar
Autosomal recessive truncating MAB21L1 mutation associated with a syndromic scrotal agenesis
A. Bruel, A. Masurel‐Paulet, J. Rivière, Y. Duffourd +10 more
2017Clinical Genetics22 citations Open access
Semantic Scholar
2.5 years’ experience of GeneMatcher data-sharing: a powerful tool for identifying new genes responsible for rare diseases
A. Bruel, A. Vitobello, F. T. Mau-Them, S. Nambot +22 more
2018Genetics in Medicine21 citations Open access
Semantic Scholar
Secondary actionable findings identified by exome sequencing: expected impact on the organisation of care from the study of 700 consecutive tests
C. Thauvin-Robinet, J. Thevenon, S. Nambot, J. Delanne +29 more
2019European Journal of Human Genetics20 citations Open access
Semantic Scholar
Cardiomyopathy due to PRDM16 mutation: First description of a fetal presentation, with possible modifier genes
Geoffroy Delplancq, G. Tarris, A. Vitobello, S. Nambot +16 more
2020American Journal of Medical Genetics. Part C, Seminars in Medical Genetics19 citations
Semantic Scholar
Mosaicism for a KITLG Mutation in Linear and Whorled Nevoid Hypermelanosis.
A. Sorlin, A. Maruani, M. Aubriot‐Lorton, P. Kuentz +11 more
2017Journal of Investigative Dermatology19 citations Open access
Semantic Scholar
Stepwise use of genomics and transcriptomics technologies increases diagnostic yield in Mendelian disorders
E. Colin, Y. Duffourd, M. Chevarin, É. Tisserant +35 more
2023Frontiers in Cell and Developmental Biology18 citations Open access
Semantic Scholar
Hearing impairment as an early sign of alpha‐mannosidosis in children with a mild phenotype: Report of seven new cases
D. Lehalle, R. Colombo, M. O'Grady, B. Héron +19 more
2019American Journal of Medical Genetics. Part A17 citations
Semantic Scholar
Clinical and molecular data in cases of prenatal localized overgrowth disorder: major implication of genetic variants in PI3K‐AKT‐mTOR signaling pathway
N. Bourgon, V. Carmignac, A. Sorlin, Y. Duffourd +66 more
2021Ultrasound in Obstetrics and Gynecology16 citations
Semantic Scholar
De novo mutations in the X-linked TFE3 gene cause intellectual disability with pigmentary mosaicism and storage disorder-like features
D. Lehalle, Pierre Vabres, A. Sorlin, T. Bierhals +47 more
2020Journal of Medical Genetics16 citations Open access
Semantic Scholar
TBL1XR1 mutations in Pierpont syndrome are not restricted to the recurrent p.Tyr446Cys mutation
C. Lemattre, J. Thevenon, Y. Duffourd, S. Nambot +9 more
2018American Journal of Medical Genetics. Part A16 citations
Semantic Scholar
Excess of de novo variants in genes involved in chromatin remodelling in patients with marfanoid habitus and intellectual disability
M. Chevarin, Y. Duffourd, Rebecca A. Barnard, S. Moutton +68 more
2020Journal of Medical Genetics14 citations
Semantic Scholar
Primrose syndrome: a phenotypic comparison of patients with a ZBTB20 missense variant versus a 3q13.31 microdeletion including ZBTB20
Aurélien Juven, S. Nambot, A. Piton, Nolwenn Jean-Marçais +36 more
2020European Journal of Human Genetics14 citations Open access
Semantic Scholar
Variants of NAV3, a neuronal morphogenesis protein, cause intellectual disability, developmental delay, and microcephaly
A. Ghaffar, Tehmeena Akhter, Petter Strømme, D. Misceo +18 more
2024Communications Biology13 citations Open access
Semantic Scholar
Low risk of embryonic and other cancers in PIK3CA‐related overgrowth spectrum: Impact on screening recommendations
L. Faivre, J. Crépin, M. Réda, S. Nambot +59 more
2023Clinical Genetics13 citations Open access
Semantic Scholar
Risk estimation of uniparental disomy of chromosome 14 or 15 in a fetus with a parent carrying a non‐homologous Robertsonian translocation. Should we still perform prenatal diagnosis?
K. Moradkhani, L. Cuisset, P. Boisseau, Olivier Pichon +37 more
2019Prenatal Diagnosis13 citations Open access
Semantic Scholar
BRAT1–related disorders: phenotypic spectrum and phenotype-genotype correlations from 97 patients
Camille Engel, S. Valence, Geoffroy Delplancq, R. Maroofian +86 more
2023European Journal of Human Genetics12 citations Open access
Semantic Scholar
TELO2‐related syndrome (You‐Hoover‐Fong syndrome): Description of 14 new affected individuals and review of the literature
Daniah Albokhari, A. Pritchard, Adelyn Beil, Candace Muss +9 more
2023American Journal of Medical Genetics. Part A12 citations Open access
Semantic Scholar
EPHA7 haploinsufficiency is associated with a neurodevelopmental disorder
J. Lévy, B. Schell, H. Nasser, M. Rachid +20 more
2021Clinical Genetics12 citations Open access
Semantic Scholar
Novel KIAA1033/WASHC4 mutations in three patients with syndromic intellectual disability and a review of the literature
M. Assoum, A. Bruel, Melissa L. Crenshaw, J. Delanne +9 more
2020American Journal of Medical Genetics. Part A12 citations
Semantic Scholar
Copy number variants calling from WES data through eXome hidden Markov model (XHMM) identifies additional 2.5% pathogenic genomic imbalances smaller than 30 kb undetected by array‐CGH
É. Tisserant, A. Vitobello, D. Callegarin, Simon Verdez +23 more
2022Annals of Human Genetics11 citations
Semantic Scholar
Cerebriform sebaceous nevus: a subtype of organoid nevus due to specific postzygotic FGFR2 mutations
M. Theiler, L. Weibel, S. Christen-Zaech, V. Carmignac +8 more
2021Journal of the European Academy of Dermatology and Venereology11 citations
Semantic Scholar
Further clinical and molecular characterization of an XLID syndrome associated with BRWD3 variants, a gene implicate in leukemia-related JAK-STAT pathway.
J. Delanne, M. Lecat, P. Blackburn, E. Klee +31 more
2022European Journal of Medical Genetics8 citations Open access
Semantic Scholar
A bi‐allelic loss‐of‐function SARS1 variant in children with neurodevelopmental delay, deafness, cardiomyopathy, and decompensation during fever
J. Ravel, Natacha Dreumont, Pauline Mosca, Desirée E. C. Smith +16 more
2021Human Mutation8 citations Open access
Semantic Scholar
New Insights into Potocki-Shaffer Syndrome: Report of Two Novel Cases and Literature Review
S. Trajkova, E. di Gregorio, G. Ferrero, D. Carli +4 more
2020Brain Science8 citations Open access
Semantic Scholar
A phase II double-blind multicentre, placebo-controlled trial to assess the efficacy and safety of alpelisib (BYL719) in paediatric and adult patients with Megalencephaly-CApillary malformation Polymicrogyria syndrome (MCAP): the SESAM study protocol
M. Luu, P. Vabres, Aurélie Espitalier, Agnès Maurer +18 more
2024BMJ Open7 citations Open access
Semantic Scholar
Clinical and genomic delineation of the new proximal 19p13.3 microduplication syndrome
Guillaume Jouret, M. Egloff, E. Landais, Olivier Tassy +31 more
2022American Journal of Medical Genetics. Part A7 citations
Semantic Scholar
Evidence for high breakpoint variability in 46, XX, SRY‐positive testicular disorder and frequent ARSE deletion that may be associated with short stature
Céline Capron, L. Januel, G. Vieville, S. Jaillard +18 more
2022Andrology7 citations Open access
Semantic Scholar
PERIGENOMED-CLINICS 1—the first study on feasibility, acceptability and psychosocial impact of PERIGENOMED: a pilot project aimed at providing initial concrete evidence on the relevance of panel-based genome sequencing for newborn screening (NBS) in France
Camille Level, C. Thauvin-Robinet, Christine Binquet, Y. Duffourd +45 more
2025BMJ Open6 citations Open access
Semantic Scholar
The diagnostic rate of inherited metabolic disorders by exome sequencing in a cohort of 547 individuals with developmental disorders
J. Delanne, A. Bruel, F. Huet, S. Moutton +33 more
2021Molecular Genetics and Metabolism Reports6 citations Open access
Semantic Scholar
Prenatal presentation of Aicardi‐Goutières syndrome: Nonspecific phenotype necessitates exome sequencing for definitive diagnosis
N. Bourgon, M. Lefebvre, P. Kuentz, J. Thevenon +10 more
2019Prenatal Diagnosis6 citations
Semantic Scholar
Lack of behavioural improvement with sirolimus in a patient with MTOR-related macrocephaly with pigmentary mosaicism: a new case report.
B. Bonniaud, M. Luu, Coline Cormier, C. Racine +11 more
2025European Journal of Medical Genetics5 citations Open access
Semantic Scholar

Frequent co-authors

Invite them to SciRah by sharing their profile.

L. Faivre×31
Invite
L. Faivre — researcher profile on SciRah
Y. Duffourd×27
Invite
Y. Duffourd — researcher profile on SciRah
C. Thauvin-Robinet×26
Invite
C. Thauvin-Robinet — researcher profile on SciRah
J. Thevenon×24
Invite
J. Thevenon — researcher profile on SciRah

×19

Invite

C. Philippe — researcher profile on SciRah

Invite

A. Sorlin — researcher profile on SciRah

Invite

A. Bruel — researcher profile on SciRah

Pierre Vabres×13

Invite

Pierre Vabres — researcher profile on SciRah

Invite

P. Callier — researcher profile on SciRah

A. Vitobello×12

Invite

A. Vitobello — researcher profile on SciRah

M. Chevarin×12

Invite

M. Chevarin — researcher profile on SciRah

Invite

D. Lehalle — researcher profile on SciRah