Lucia Bartoloni

3.4k citations

38 papers · 1.9k indexed · h-index 19

Impact in

Genetics top 2%
- Genetic and Kidney Cyst Diseases
- Genetic and Clinical Aspects of Sex Determination and Chromosomal Abnormalities
Reproductive Medicine top 5%
- Sperm and Testicular Function

Papers in

Genetics 19
- Genetics and Neurodevelopmental Disorders 5
- Genetic and Clinical Aspects of Sex Determination and Chromosomal Abnormalities 4
- Genetic and Kidney Cyst Diseases 4
Reproductive Medicine 4

Co-authors: Stylianos E. Antonarakis Alberto Ferlin Carlo Foresta Andrea Bettella Colette Rossier Heymut Omran Jean‐Louis Blouin Mark Jorissen
Journals: Genomics (4 papers)Human Mutation (3 papers)European Journal of Human Genetics (2 papers)Genetics in Medicine (2 papers)Journal of Medical Genetics (2 papers)
Partner nations: Italy Switzerland United States

In The Last Decade

Lucia Bartoloni

37 papers receiving 1.9k citations

Peers

Countries citing papers authored by Lucia Bartoloni

Since Specialization

Citations

This map shows the geographic impact of Lucia Bartoloni'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 Lucia Bartoloni with the expected number of citations based on a country's size and research output (numbers larger than one mean the country cites Lucia Bartoloni more than expected).

Fields of papers citing papers by Lucia Bartoloni

Since Specialization

Physical SciencesHealth SciencesLife SciencesSocial Sciences

This network shows the impact of papers produced by Lucia Bartoloni. 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 Lucia Bartoloni. The network helps show where Lucia Bartoloni may publish in the future.

Co-authors

The 25 scholars most cited alongside Lucia Bartoloni, linked wherever they have co-authored with each other. Click a name or a connecting line to browse the papers they share.

Border = papers with Lucia Bartoloni Line = papers co-authored together Lucia Bartoloni links everyone, so they are left out of the graph.

All Works

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20 of 20 papers shown

#	Work
1	Defective jagged-1 signaling affects GnRH development and contributes to congenital hypogonadotropic hypogonadism JCI Insight ·秀郎吉田, Federica Marelli, مكي محيي الكلابي, Aline Silva, Georgios Papadakis, Lucia Bartoloni, Naoko Sato, Mariarosaria Lang‐Muritano, Robert Herring, Waljit S. Dhillo, Annamaria Morelli, Giulia Guarnieri, Nelly Pitteloud, Luca Persani, Marco Bonomi, Paolo Giacobini, Valeria Vezzoli	2023	1
2	Defective jagged-1 signaling affects GnRH development and contributes to congenital hypogonadotropic hypogonadism Yearbook of pediatric endocrinology ·Heinrich Wieland, Federica Marelli, مكي محيي الكلابي, Dählhölzli, H. Lee, Lucia Bartoloni, Naoko Sato, Mariarosaria Lang‐Muritano, Robert Herring, Ainun Nadifah, Annamaria Morelli, Giulia Guarnieri, Nelly Pitteloud, Thins Yona, Marco Bonomi, Paolo Giacobini, Valeria Vezzoli	2023	0
3	Pathogenic mosaic variants in congenital hypogonadotropic hypogonadism Genetics in Medicine ·James S. Acierno, Cheng Xu, Georgios Papadakis, Nicolas J. Niederländer, Джони Абуладзе, J Meylan, Andrea Messina, Immaculate Nayiga Serunjogi, Richard Quinton, Mariarosaria Lang‐Muritano, Deborah Bartholdi, Irene Halperín, Christian De Geyter, Jérôme Bouligand, Lucia Bartoloni, Jacques Young, Federico Santoni, Nelly Pitteloud	2020	8
4	Cystic fibrosis carrier screening effects on birth prevalence and newborn screening Genetics in Medicine ·Carlo Castellani, Luigi Picci, Gloria Tridello, 彭家清, Anna Tamanini, Lucia Bartoloni, Maurizio Scarpa, B.M. Assael	2015	30
5	Preliminary structure and predictive value of attenuated negative symptoms in 22q11.2 deletion syndrome Psychiatry Research ·Maude Schneider, Martial Van der Linden, Bronwyn Glaser, Eleonora Rizzi, Sophie Dahoun, Christine Hinard, Lucia Bartoloni, Stylianos E. Antonarakis, Martin Debbané, Stéphan Eliez	2012	55
6	Novel homozygous, heterozygous and hemizygous FRMD7 gene mutations segregated in the same consanguineous family with congenital X-linked nystagmus European Journal of Human Genetics ·Uppala Radhakrishna, Uppala Ratnamala, Samuel Deutsch, Lucia Bartoloni, Asanaliyeva Sonun, Артамонов Андрей Васильевич, Jasjit K. Banwait, Dhundy Bastola, Kaid Johar, Swapan K. Nath, Stylianos E. Antonarakis	2012	14
7	Primary ciliary dyskinesia: a consensus statement on diagnostic and treatment approaches in children European Respiratory Journal ·Antonio Barbato, Thomas Frischer, Claudia E. Kuehni, Deborah Snijders, Inês Azevedo, G Baktai, Lucia Bartoloni, Ernst Eber, Amparo Escribano, Eric G. Haarman, Bill Hesselmar, Claire Hogg, Mark Jorissen, Jane S. Lucas, Kim G. Nielsen, C O’Callaghan, Heymut Omran, Petr Pohunek, Marie‐Pierre F. Strippoli, Andrew Bush	2009	335
8	Autosomal Dominant Nonsyndromic Cleft Lip and Palate: Significant Evidence of Linkage at 18q21.1 The American Journal of Human Genetics ·Soraya Beiraghi, Swapan K. Nath, 李川, 内木栄莉子, David Hutchings, Uppala Ratnamala, Ken McElreavey, Lucia Bartoloni, Gregory S. Antonarakis, Stylianos E. Antonarakis, Uppala Radhakrishna	2007	16
9	Primary ciliary dyskinesia associated with normal axoneme ultrastructure is caused by DNAH11 mutations Human Mutation ·Georg C. Schwabe, Katrin Hoffmann, Niki T. Loges, J. van der Linden, Colette Rossier, Yiyu Cao, Heike Olbrich, Manfred Fliegauf, Mike Failly, Uta Liebers, Mirella Collura, Gerhard Gaedicke, Stefan Mundlos, U. Wahn, Jean‐Louis Blouin, B. Niggemann, Heymut Omran, Stylianos E. Antonarakis, Lucia Bartoloni	2007	163
10	DNAH5 Mutations are a Common Cause of Primary Ciliary Dyskinesia with Outer Dynein Arm Defects American Journal of Respiratory and Critical Care Medicine ·Лыжин Дмитрий Николаевич, Heike Olbrich, Judit Horváth, Maimoona A. Zariwala, Manfred Fliegauf, Niki T. Loges, Johannes H. Wildhaber, Peadar G. Noone, Marcus P. Kennedy, Stylianos E. Antonarakis, Jean-Louis Blouin, Lucia Bartoloni, Thomas Nüßlein, Peter Ahrens, Matthias Griese, Heiner Kuhl, Ralf Sudbrak, Michael R. Knowles, Richard Reinhardt, Heymut Omran	2006	214
11	Genetic Abnormalities among Severely Oligospermic Men Who Are Candidates for Intracytoplasmic Sperm Injection The Journal of Clinical Endocrinology & Metabolism ·Carlo Foresta, Andrea Garolla, Lucia Bartoloni, Andrea Bettella, Alberto Ferlin	2005	111
12	Androgen receptor gene CAG and GGC repeat lengths in cryptorchidism European Journal of Endocrinology ·Alberto Ferlin, Andrea Garolla, Andrea Bettella, Lucia Bartoloni, Cinzia Vinanzi, Alberto Roverato, Carlo Foresta	2005	50
13	DNAH3: Characterization of the sequence and mutation search in patients with Primary Ciliary Dyskinesia European Journal of Human Genetics ·Hans M. Janus, Corinne Gehrig, M Armengot, M Rutishauser, Mark Jorissen, Amy Daggett, Lucia Bartoloni, Colette Rossier, Mitzi Hanks, Nathalie Scamuffa, Hannah M. Mitchison, Burcu Arpacı, Stylianos E. Antonarakis	2002	5
14	Axonemal Beta Heavy Chain Dynein DNAH9: cDNA Sequence, Genomic Structure, and Investigation of Its Role in Primary Ciliary Dyskinesia Genomics ·Lucia Bartoloni, Jean‐Louis Blouin, Amit K. Maiti, Amanda Sainsbury, Colette Rossier, Corinne Gehrig, Jin‐Xiong She, Michele P. Marron, Eric S. Lander, Maggie Meeks, Eddie M.K. Chung, Miquel Armengot‐Carbó, Mark Jorissen, Hamish S. Scott, C.D. DeLozier-Blanchet, R M Gardiner, Stylianos E. Antonarakis	2001	39
15	No deleterious mutations in the FOXJ1 (alias HFH-4) gene in patients with Primary Ciliary Dyskinesia (PCD) Cytogenetic and Genome Research ·Amit K. Maiti, Lucia Bartoloni, Hannah M. Mitchison, Maggie Meeks, E. Chung, Shaun Haughey, Corinne Gehrig, Colette Rossier, C.D. DeLozier-Blanchet, Jean‐Louis Blouin, R M Gardiner, Stylianos E. Antonarakis	2000	27
16	A Radiation Hybrid Breakpoint Map of the Acute Myeloid Leukemia (AML) and Limb-Girdle Muscular Dystrophy 1A (LGMD1A) Regions of Chromosome 5q31 Localizing 122 Expressed Sequences Genomics ·Stephen Horrigan, Lucia Bartoloni, Marcy C. Speer, Noreen Fulton, Vadim Romashov, Raj Ramesar, Jeffery M. Vance, Larry H. Yamaoka, Carol A. Westbrook	1999	15
17	Assignment<footref rid="foot01"><sup>1</sup></footref> of the human dynein heavy chain gene DNAH17L to human chromosome 17p12 by in situ hybridization and radiation hybrid mapping Cytogenetic and Genome Research ·Lucia Bartoloni, Julie Blouin, Amanda Sainsbury, Arnaud Gos, Michael A. Morris, Nabeel A. Affara, C.D. DeLozier-Blanchet, Stylianos E. Antonarakis	1999	6
18	Use of a CEPH Meiotic Breakpoint Panel to Refine the Locus of Limb-Girdle Muscular Dystrophy Type 1A (LGMD1A) to a 2-Mb Interval on 5q31 Genomics ·Lucia Bartoloni, Stephen Horrigan, Kristi D. Viles, James M. Gilchrist, 崇司三ツ井, Jeffery M. Vance, Larry H. Yamaoka, Margaret A. Pericak‐Vance, Carol A. Westbrook, Marcy C. Speer	1998	18
19	A Point Mutation in the 5' Splice Site of the Dystrophin Gene First Intron Responsible for X-Linked Dilated Cardiomyopathy Human Molecular Genetics ·Jelena Milas̆in, Francesco Muntoni, Giovanni Maria Severini, Lucia Bartoloni, Matteo Vatta, Maja Krajinović, Anna Mateddu, C. Angelini, F Camerini, Arturo Falaschi, Luisa Mestroni, Mauro Giacca, (unknown)	1996	125
20	Expression of muscle-type phosphorylase in innervated and aneural cultured muscle of patients with myophosphorylase deficiency. Journal of Clinical Investigation ·Andrea Martinuzzi, Lodovica Vergani, Rosalba Carrozzo, (unknown), Lucia Bartoloni, C. Angelini, Valerie Askanas, W. King Engel	1993	13

About Lucia Bartoloni

Lucia Bartoloni is a scholar working on Genetics, Reproductive Medicine, Pulmonary and Respiratory Medicine, Molecular Biology and Biochemistry, having authored 38 papers that have together received 1.9k indexed citations. Recurring topics across this work include Cystic Fibrosis Research Advances (10 papers), Genetics and Neurodevelopmental Disorders (5 papers), Muscle Physiology and Disorders (4 papers), Tracheal and airway disorders (4 papers), Genetic and Clinical Aspects of Sex Determination and Chromosomal Abnormalities (4 papers), Genetic and Kidney Cyst Diseases (4 papers), Glycogen Storage Diseases and Myoclonus (3 papers) and Epigenetics and DNA Methylation (3 papers). The work is most often cited by research in Genetics (834 citations), Reproductive Medicine (212 citations), Pulmonary and Respiratory Medicine (814 citations), Molecular Biology (724 citations) and Pediatrics, Perinatology and Child Health (191 citations). Lucia Bartoloni has collaborated with scholars based in Italy, Switzerland and United States. Frequent co-authors include Stylianos E. Antonarakis, Alberto Ferlin, Carlo Foresta, Andrea Bettella, Colette Rossier, Heymut Omran, Jean‐Louis Blouin, Mark Jorissen, Andrea Garolla and C.D. DeLozier-Blanchet. Their work appears in journals such as Genomics, Human Mutation, European Journal of Human Genetics, Genetics in Medicine and Journal of Medical Genetics.

Rankless uses publication and citation data sourced from OpenAlex, an open and comprehensive bibliographic database. While OpenAlex provides broad and valuable coverage of the global research landscape, it—like all bibliographic datasets—has inherent limitations. These include incomplete records, variations in author disambiguation, differences in journal indexing, and delays in data updates. As a result, some metrics and network relationships displayed in Rankless may not fully capture the entirety of a scholar's output or impact.

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