Alice Masurel‐Paulet

3.7k citations

26 papers · 800 indexed · h-index 15

Genetics top 5%
Molecular Biology
Clinical Biochemistry top 2%
Pediatrics, Perinatology and Child Health top 10%
Biochemistry top 10%

Co-authors: Frédéric Huet Laurence Faivre Patrick Callier Julien Thévenon Christel Thauvin‐Robinet Nathalie Guffon J. Sarles Guy Touati
Topics: Genomic variations and chromosomal abnormalities (10 papers)Congenital heart defects research (5 papers)Genetics and Neurodevelopmental Disorders (5 papers)
Cited by: Clinical Biochemistry Genetics Biochemistry
Journals: Journal of Neurology Neurosurgery & Psychiatry Journal of Medical Genetics European Journal of Human Genetics
Partner nations: France United States Italy

In The Last Decade

Alice Masurel‐Paulet

26 papers receiving 790 citations

Peers

Countries citing papers authored by Alice Masurel‐Paulet

Since Specialization

Citations

This map shows the geographic impact of Alice Masurel‐Paulet's research. It shows the number of citations coming from papers published by authors working in each country. You can also color the map by specialization and compare the number of citations received by Alice Masurel‐Paulet with the expected number of citations based on a country's size and research output (numbers larger than one mean the country cites Alice Masurel‐Paulet more than expected).

Fields of papers citing papers by Alice Masurel‐Paulet

Since Specialization

Physical SciencesHealth SciencesLife SciencesSocial Sciences

This network shows the impact of papers produced by Alice Masurel‐Paulet. Nodes represent research fields, and links connect fields that are likely to share authors. Colored nodes show fields that tend to cite the papers produced by Alice Masurel‐Paulet. The network helps show where Alice Masurel‐Paulet may publish in the future.

Co-authorship network of co-authors of Alice Masurel‐Paulet

This figure shows the co-authorship network connecting the top 25 collaborators of Alice Masurel‐Paulet. A scholar is included among the top collaborators of Alice Masurel‐Paulet based on the total number of citations received by their joint publications. Widths of edges represent the number of papers authors have co-authored together. Node borders signify the number of papers an author published with Alice Masurel‐Paulet. Alice Masurel‐Paulet is excluded from the visualization to improve readability, since they are connected to all nodes in the network.

All Works

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20 of 20 papers shown

#	Work	Indexed citations
1	Autosomal recessive mutations in THOC6 cause intellectual disability: syndrome delineation requiring forward and reverse phenotyping 2016 ·Clinical Genetics ·J. Amos,Linda Huang,Julien Thévenon,(unknown),Chandree L. Beaulieu,Alice Masurel‐Paulet,Hossein Najmabadi,Zohreh Fattahi,Maryam Beheshtian,Seyed Hassan Tonekaboni,Sha Tang,Katherine L. Helbig,(unknown),Jean‐Baptiste Rivière,(unknown),A. Micheil Innes,(unknown),Kym M. Boycott	16
2	Autosomal recessive IFT57 hypomorphic mutation cause ciliary transport defect in unclassified oral–facial–digital syndrome with short stature and brachymesophalangia 2016 ·Clinical Genetics ·Julien Thévenon,Laurence Duplomb,Shubha R. Phadke,Thibaut Eguether,(unknown),(unknown),Virginie Carmignac,Ange‐Line Bruel,Judith St‐Onge,Yannis Duffourd,Gregory J. Pazour,Brunella Franco,Tania Attié‐Bitach,Alice Masurel‐Paulet,(unknown),Valérie Cormier‐Daire,C. Philippe,Laurence Faivre,(unknown)	18
3	Further delineation of eye manifestations in homozygous 15q13.3 microdeletions including TRPM1: A differential diagnosis of ceroid lipofuscinosis 2014 ·American Journal of Medical Genetics Part A ·Alice Masurel‐Paulet,Isabelle Drumare,Muriel Holder,Jean‐Marie Cuisset,Louis Vallée,Sabine Defoort,(unknown),(unknown),(unknown),Frédéric Huet,Salima El Chehadeh,Julien Thévenon,Patrick Callier,Christel Thauvin,Laurence Faivre,Joris Andrieux	18
4	Homozygous Truncating Intragenic Duplication in TUSC3 Responsible for Rare Autosomal Recessive Nonsyndromic Intellectual Disability with No Clinical or Biochemical Metabolic Markers 2014 ·JIMD Reports ·Salima El Chehadeh,Céline Bonnet,Patrick Callier,Mylène Béri,Thierry Dupré,(unknown),(unknown),Anne‐Laure Mosca‐Boidron,Nathalie Marle,Francine Mugneret,Alice Masurel‐Paulet,Julien Thévenon,Nathalie Séta,Laurence Duplomb,Philippe Jonveaux,Laurence Faivre,Christel Thauvin-Robinet	9
5	Expanding the clinical phenotype of patients with a ZDHHC9 mutation 2013 ·American Journal of Medical Genetics Part A ·Alice Masurel‐Paulet,Vera M. Kalscheuer,Nicolas Lebrun,Hao Hu,(unknown),Christel Thauvin‐Robinet,Véronique Darmency‐Stamboul,Salima El Chehadeh,Julien Thévenon,(unknown),(unknown),(unknown),Jean‐Michel Pinoit,Frédéric Huet,Vincent Desportes,Jamel Chelly,Laurence Faivre	28
6	Changing facial phenotype in Cohen syndrome: towards clues for an earlier diagnosis 2012 ·European Journal of Human Genetics ·Salima El Chehadeh-Djebbar,Edward Blair,Muriel Holder‐Espinasse,Anne Moncla,(unknown),Marlène Rio,François‐Guillaume Debray,Patrick Rump,Alice Masurel‐Paulet,Nadège Gigot,Patrick Callier,Laurence Duplomb,Bernard Aral,Frédéric Huet,Christel Thauvin‐Robinet,Laurence Faivre	22
7	Homozygous SMN1 exons 1–6 deletion: Pitfalls in genetic counseling and general recommendations for spinal muscular atrophy molecular diagnosis 2012 ·American Journal of Medical Genetics Part A ·Christel Thauvin‐Robinet,Séverine Drunat,Pascale Saugier-Véber,(unknown),Mireille Cossée,(unknown),P Soichot,Alice Masurel‐Paulet,Javier Monleón,(unknown),Frédéric Huet,(unknown),Nadège Calmels,Laurence Faivre,Bénédicte Gérard,(unknown)	16
8	A prenatal case of inverted duplication with terminal deletion of 5p not including the cat‐like cry critical region 2011 ·American Journal of Medical Genetics Part A ·A.L. Mosca,Patrick Callier,Laurence Faivre,Nicole Laurent,Thierry Rousseau,Nathalie Marle,(unknown),H. Robert Guy,(unknown),Alice Masurel‐Paulet,Paul Sagot,Christel Thauvin-Robinet,Francine Mugneret	2
9	Written information to patients in clinical genetics: What’s the impact? 2011 ·European Journal of Medical Genetics ·(unknown),Christel Thauvin‐Robinet,Sandrine Vinault,Christine Binquet,(unknown),Alice Masurel‐Paulet,Claire Bonithon‐Kopp,Sandra Mercier,Louise Joly,Frédéric Huet,Laurence Faivre	11
10	17q21.31 microdeletion in a patient with pituitary stalk interruption syndrome 2011 ·European Journal of Medical Genetics ·Salima El Chehadeh-Djebbar,Patrick Callier,Alice Masurel‐Paulet,(unknown),N. Méjean,(unknown),(unknown),Christine Durand,Nathalie Marle,Anne‐Laure Mosca‐Boidron,Frédéric Huet,Francine Mugneret,Laurence Faivre,Christel Thauvin-Robinet	40
11	Lung disease associated with periventricular nodular heterotopia and an FLNA mutation 2010 ·European Journal of Medical Genetics ·Alice Masurel‐Paulet,Eric Haan,Elizabeth M. Thompson,Cyril Goizet,Christel Thauvin‐Robinet,Andrew W. Tai,Declan Kennedy,Greg Smith,T. Yee Khong,Guilhem Solé,(unknown),Isabelle Coupry,Frédéric Huet,Stephen P. Robertson,Laurence Faivre	47
12	Cytogenetic and array‐CGH characterization of a 6q27 deletion in a patient with developmental delay and features of Ehlers–Danlos syndrome 2010 ·American Journal of Medical Genetics Part A ·A.L. Mosca,Patrick Callier,Alice Masurel‐Paulet,Christel Thauvin‐Robinet,Nathalie Marle,(unknown),Frédéric Huet,(unknown),Anne De Paepe,Paul Coucke,Francine Mugneret,Laurence Faivre	7
13	Multiple cysts of the corpus callosum and psychomotor delay in a patient with a 3.1 Mb 15q24.1q24.2 interstitial deletion identified by array‐CGH 2009 ·American Journal of Medical Genetics Part A ·Alice Masurel‐Paulet,Patrick Callier,Christel Thauvin‐Robinet,Mondher Chouchane,N. Méjean,Nathalie Marle,(unknown),D. Ben Salem,M Giroud,Laurent Guibaud,Frédéric Huet,Francine Mugneret,Laurence Faivre	20
14	Polymicrogyria in a child with inv dup del(9p) and 22q11.2 microduplication 2009 ·American Journal of Medical Genetics Part A ·A.L. Mosca,Patrick Callier,Laurence Faivre,Nathalie Marle,N. Méjean,(unknown),Alice Masurel‐Paulet,(unknown),(unknown),Gérard Couillaud,Sylviane Ragot,Frédéric Huet,J. Teyssier,Francine Mugneret	13
15	Search for genomic imbalances in a cohort of 20 patients with oral–facial–digital syndromes negative for mutations and large rearrangements in the OFD1 gene 2009 ·American Journal of Medical Genetics Part A ·Christel Thauvin‐Robinet,(unknown),Brunella Franco,Orsetta Zuffardi,(unknown),Bernard Aral,Nadège Gigot,(unknown),Anne‐Laure Mosca‐Boidron,Alice Masurel‐Paulet,Frédéric Huet,Jean‐Raymond Teyssier,Francine Mugneret,Laurence Faivre	4
16	Severe neonatal non‐dystrophic myotonia secondary to a novel mutation of the voltage‐gated sodium channel (SCN4A) gene 2008 ·American Journal of Medical Genetics Part A ·(unknown),Delphine S. Dupuis,Laurence Faivre,Alice Masurel‐Paulet,(unknown),Marina Colombani,P Soichot,Frédéric Huet,Bernard Hainque,Damien Sternberg,Bertrand Fontaine,Jean‐Bernard Gouyon,Christel Thauvin‐Robinet	53
17	Array‐CGH in a series of 30 patients with mental retardation, dysmorphic features, and congenital malformations detected an interstitial 1p22.2‐p31.1 deletion in a patient with features overlapping the Goldenhar syndrome 2008 ·American Journal of Medical Genetics Part A ·Patrick Callier,Laurence Faivre,Christel Thauvin‐Robinet,Nathalie Marle,A.L. Mosca,(unknown),Julien Guy,Alice Masurel‐Paulet,Louise Joly,Simon Guiraud,J. Teyssier,Frédéric Huet,Francine Mugneret	20
18	The adolescent and adult form of cobalamin C disease: clinical and molecular spectrum 2007 ·Journal of Neurology Neurosurgery & Psychiatry ·Christel Thauvin‐Robinet,Emmanuel Roze,G. Couvreur,M.H. Horellou,(unknown),David Grabli,Gaëlle Bruneteau,(unknown),Alice Masurel‐Paulet,Dominic Pérénnou,Thomas Moreau,M Giroud,(unknown),Stéphane Giraudier,Laurence Faivre	58
19	Syndromic encephalocele in a fetal case with a 1p35‐pter deletion and a 14q32‐qter duplication inherited from a maternal balanced translocation 2007 ·Prenatal Diagnosis ·Christel Thauvin‐Robinet,Patrick Callier,Nicole Laurent,Thierry Rousseau,Alice Masurel‐Paulet,Nathalie Marle,Frédéric Huet,(unknown),Laurence Faivre,Francine Mugneret	5
20	Untreated growth hormone deficiency with extremely short stature, bone dysplasia, cleft lip–palate and severe mental retardation in a 26-year-old man with a de novo unbalanced translocation t(1;12)(q24;q24) 2007 ·European Journal of Medical Genetics ·Patrick Callier,Laurence Faivre,Nathalie Marle,Christel Thauvin‐Robinet,A.L. Mosca,Alice Masurel‐Paulet,(unknown),Sylvie Falcon‐Eicher,(unknown),G. Malka,M. Le Merrer,Frédéric Huet,Francine Mugneret	9

About Alice Masurel‐Paulet

Alice Masurel‐Paulet is a scholar working on Genetics, Developmental Biology and Clinical Biochemistry, having authored 26 papers that have together received 800 indexed citations. Recurring topics across this work include Genomic variations and chromosomal abnormalities (10 papers), Congenital heart defects research (5 papers) and Genetics and Neurodevelopmental Disorders (5 papers). The work is most often cited by research in Clinical Biochemistry (164 citations), Genetics (386 citations) and Biochemistry (79 citations). Alice Masurel‐Paulet has collaborated with scholars based in France, United States and Italy. Frequent co-authors include Frédéric Huet, Laurence Faivre, Patrick Callier, Julien Thévenon, Christel Thauvin‐Robinet, Nathalie Guffon, J. Sarles, Guy Touati, M. O. Rolland and H. Ogier de Baulny. Their work appears in journals such as Journal of Neurology Neurosurgery & Psychiatry, Journal of Medical Genetics and European Journal of Human Genetics.

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