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

L. Bartoloni · SciRah

Researcher profile · Semantic Scholar

L. Bartoloni

Share profile

L. Bartoloni — researcher profile on SciRah

h-index: 24
Works: 43
Citations: 2,906

Most-cited papers

Primary ciliary dyskinesia: a consensus statement on diagnostic and treatment approaches in children
A. Barbato, T. Frischer, C. Kuehni, D. Snijders +16 more
2009European Respiratory Journal515 citations Open access
Semantic Scholar
Mutations in the DNAH11 (axonemal heavy chain dynein type 11) gene cause one form of situs inversus totalis and most likely primary ciliary dyskinesia
L. Bartoloni, J. Blouin, Yan-Zhen Pan, C. Gehrig +11 more
2002Proceedings of the National Academy of Sciences of the United States of America353 citations Open access
Semantic Scholar
DNAH5 mutations are a common cause of primary ciliary dyskinesia with outer dynein arm defects.
Nada Hornef, H. Olbrich, J. Horváth, M. Zariwala +16 more
2006American Journal of Respiratory and Critical Care Medicine352 citations Open access
Semantic Scholar
Primary ciliary dyskinesia associated with normal axoneme ultrastructure is caused by DNAH11 mutations
G. Schwabe, K. Hoffmann, N. Loges, D. Birker +15 more
2008Human Mutation240 citations
Semantic Scholar
Mutations in ZMYND10, a gene essential for proper axonemal assembly of inner and outer dynein arms in humans and flies, cause primary ciliary dyskinesia.
Daniel J Moore, A. Onoufriadis, A. Shoemark, Michael A. Simpson +27 more
2013American Journal of Human Genetics164 citations Open access
Semantic Scholar
Genetic abnormalities among severely oligospermic men who are candidates for intracytoplasmic sperm injection.
C. Foresta, A. Garolla, L. Bartoloni, A. Bettella +1 more
2005Journal of Clinical Endocrinology and Metabolism164 citations
Semantic Scholar
Primary ciliary dyskinesia: a genome-wide linkage analysis reveals extensive locus heterogeneity
J. Blouin, M. Meeks, U. Radhakrishna, A. Sainsbury +18 more
1999European Journal of Human Genetics150 citations
Semantic Scholar
X-linked primary ciliary dyskinesia due to mutations in the cytoplasmic axonemal dynein assembly factor PIH1D3
C. Olcese, Mitali P. Patel, A. Shoemark, S. Kiviluoto +43 more
2017Nature Communications141 citations Open access
Semantic Scholar
Mutations in DNAH5 account for only 15% of a non-preselected cohort of patients with primary ciliary dyskinesia
Mike Failly, L. Bartoloni, A. Letourneau, A. Muñoz +8 more
2009Journal of Medical Genetics85 citations
Semantic Scholar
Preliminary structure and predictive value of attenuated negative symptoms in 22q11.2 deletion syndrome.
M. Schneider, M. Van der Linden, B. Glaser, E. Rizzi +6 more
2012Psychiatry Research71 citations
Semantic Scholar
Static respiratory cilia associated with mutations in Dnahc11/DNAH11: A mouse model of PCD
Jane S. Lucas, E. Adam, P. Goggin, C. Jackson +10 more
2012Human Mutation69 citations Open access
Semantic Scholar
Androgen receptor gene CAG and GGC repeat lengths in cryptorchidism.
A. Ferlin, A. Garolla, A. Bettella, L. Bartoloni +3 more
2005European Journal of Endocrinology63 citations
Semantic Scholar
Axonemal beta heavy chain dynein DNAH9: cDNA sequence, genomic structure, and investigation of its role in primary ciliary dyskinesia.
L. Bartoloni, J. Blouin, A. Maiti, A. Sainsbury +13 more
2001Genomics57 citations Open access
Semantic Scholar
DNAI1 Mutations Explain Only 2% of Primary Ciliary Dykinesia
Mike Failly, A. Saitta, A. Muñoz, E. Falconnet +7 more
2008Respiration53 citations Open access
Semantic Scholar
Novel insulin-like 3 (INSL3) gene mutation associated with human cryptorchidism.
Paola Marin, A. Ferlin, E. Moro, Alessandra Rossi +3 more
2001American journal of medical genetics47 citations
Semantic Scholar
Cystic fibrosis carrier screening effects on birth prevalence and newborn screening
C. Castellani, L. Picci, G. Tridello, E. Casati +4 more
2015Genetics in Medicine44 citations Open access
Semantic Scholar
No deleterious mutations in the FOXJ1 (alias HFH-4) gene in patients with Primary Ciliary Dyskinesia (PCD)
A. Maiti, L. Bartoloni, H. Mitchison, M. Meeks +8 more
2000Cytogenetic and Genome Research38 citations Open access
Semantic Scholar
The human sugar-phosphate/phosphate exchanger family SLC37
L. Bartoloni, S. Antonarakis
2004Pflügers Archiv35 citations Open access
Semantic Scholar
NCKAP1 Disruptive Variants Lead to a Neurodevelopmental Disorder with Core Features of Autism.
Hui Guo, Qiu-Meng Zhang, Ru-Jia Dai, Bin Yu +54 more
2020American Journal of Human Genetics34 citations Open access
Semantic Scholar
Cloning and characterization of a putative human glycerol 3-phosphate permease gene (SLC37A1 or G3PP) on 21q22.3: mutation analysis in two candidate phenotypes, DFNB10 and a glycerol kinase deficiency.
L. Bartoloni, Marie Wattenhofer, J. Kudoh, Asher Berry +13 more
2000Genomics33 citations
Semantic Scholar
SOX11 variants cause a neurodevelopmental disorder with infrequent ocular malformations and hypogonadotropic hypogonadism and with distinct DNA methylation profile
R. Al-Jawahiri, A. Foroutan, J. Kerkhof, H. McConkey +50 more
2022Genetics in Medicine32 citations Open access
Semantic Scholar
Transcriptome profiling of kisspeptin neurons from the mouse arcuate nucleus reveals new mechanisms in estrogenic control of fertility
Balázs Göcz, Éva Rumpler, M. Sárvári, K. Skrapits +19 more
2022Proceedings of the National Academy of Sciences of the United States of America30 citations Open access
Semantic Scholar
Combined partial exon skipping and cryptic splice site activation as a new molecular mechanism for recessive type 1 von Willebrand disease
L. Gallinaro, F. Sartorello, E. Pontara, M. Cattini +4 more
2006Thrombosis and Haemostasis29 citations
Semantic Scholar
Refinement of the X-linked nonsyndromic high-grade myopia locus MYP1 on Xq28 and exclusion of 13 known positional candidate genes by direct sequencing.
U. Ratnamala, R. Lyle, R. Rawal, Raminder Singh +12 more
2011Investigative Ophthalmology and Visual Science26 citations Open access
Semantic Scholar
Autosomal dominant nonsyndromic cleft lip and palate: significant evidence of linkage at 18q21.1.
S. Beiraghi, S. Nath, M. Gaines, D. D. Mandhyan +7 more
2007American Journal of Human Genetics21 citations Open access
Semantic Scholar
Novel homozygous, heterozygous and hemizygous FRMD7 gene mutations segregated in the same consanguineous family with congenital X-linked nystagmus
U. Radhakrishna, U. Ratnamala, S. Deutsch, L. Bartoloni +7 more
2012European Journal of Human Genetics20 citations Open access
Semantic Scholar
Pathogenic mosaic variants in congenital hypogonadotropic hypogonadism
J. Acierno, Cheng Xu, Georgios E. Papadakis, Nicolas J. Niederländer +14 more
2020Genetics in Medicine8 citations Open access
Semantic Scholar
Primary Ciliary Dyskinesia: A search for the responsible genes through linkage and candidate gene approaches
C. DeLozier-Blanchet, L. Bartoloni, C. Gehriq, U. Radhakrishna +8 more
2000Genetics in Medicine7 citations Open access
Semantic Scholar
The sugar phosphate/phosphate exchanger family SLC37
C. Olcese, L. Bartoloni
20135 citations
Semantic Scholar
Sequence variation in ultraconserved and highly conserved elements does not cause X‐linked mental retardation
A. Bottani, J. Chelly, A. D. de Brouwer, B. Pardo +5 more
2007American Journal of Medical Genetics. Part A5 citations Open access
Semantic Scholar
DNAH3: Characterization of the sequence and mutation search in patients with Primary Ciliary Dyskinesia
J. Blouin, C. Gehrig, M. Armengot, M. Rutishauser +9 more
20025 citations
Semantic Scholar
Assignment1 of the human dynein heavy chain gene DNAH17L to human chromosome 17p12 by in situ hybridization and radiation hybrid mapping
L. Bartoloni, Jean-Louis Blouin, A. Sainsbury, A. Gos +4 more
1999Cytogenetic and Genome Research5 citations Open access
Semantic Scholar
Exclusion of Identified LGMD1 Loci from Four Dominant Limb-Girdle Muscular Dystrophy Families
M. Speer, J. Vance, Felicia Lennon-Graham, J. Stajich +9 more
1998Human Heredity4 citations
Semantic Scholar
Defective jagged-1 signaling affects GnRH development and contributes to congenital hypogonadotropic hypogonadism
Ludovica Cotellessa, F. Marelli, P. Duminuco, Michela Adamo +13 more
2023JCI Insight3 citations Open access
Semantic Scholar
Variation in Novel Exons (RACEfrags) of the MECP2 Gene in Rett Syndrome Patients and Controls
P. Makrythanasis, P. Kapranov, L. Bartoloni, A. Reymond +11 more
2009Human Mutation1 citations Open access
Semantic Scholar
DNAH3: characterisation of the full length gene and mutation search in patients with Primary Ciliary Dyskinesia
J. Blouin, C. Gehrig, D. Jeganathan, L. Bartoloni +5 more
20011 citations
Semantic Scholar
A point mutation in the 5′ splice site of the first intron of the dystrophin gene responsible for X-linked dilated cardiomyopathy
J. Milašin, F. Muntoni, G. M. Severini, L. Bartoloni +8 more
19961 citations Open access
Semantic Scholar
Case Report: Minipuberty hormonal profile in PPP1R12A-related persistent Müllerian duct syndrome
Marie Voide, F. Santoni, L. Bartoloni, Jenny Meylan-Merlini +4 more
2026Frontiers in Endocrinology0 citations Open access
Semantic Scholar
ULTRASTRUCTURAL CILIARY FINDINGS IN KARTAGENER'S SYNDROME: IS NASAL BRUSHING A USEFUL DIAGNOSTIC TOOL?
N. Ciancio, M. D. de Santi, G. Battaglia, Benedetta Rossi +4 more
20080 citations
Semantic Scholar
Research Letter Sequence Variation in Ultraconserved and Highly Conserved Elements Does Not Cause X-Linked Mental Retardation
A. Bottani, J. Chelly, B. Pardo, M. Barker +4 more
20070 citations
Semantic Scholar
No deleterious mutations were found in three genes on human chromosome 17q in patients with Primary Ciliary Dyskinesia
L. Bartoloni, H. Mitchison, G. Pazour, A. Maiti +11 more
20000 citations
Semantic Scholar
The 36th American Cytogenetics Conference
E. Chevret, E. Volpi, D. Sheer, P. J. Hope +157 more
2000Cytogenetic and Genome Research0 citations
Semantic Scholar
Subject Index Vol. 84, 1999
R. Stanyon, F. Yang, P. Cavagna, P. C. O'Brien +151 more
1999Cytogenetic and Genome Research0 citations
Semantic Scholar

Frequent co-authors

Invite them to SciRah by sharing their profile.

S. Antonarakis×23
Invite
S. Antonarakis — researcher profile on SciRah
J. Blouin×13
Invite
J. Blouin — researcher profile on SciRah
C. Rossier×12
Invite
C. Rossier — researcher profile on SciRah
C. DeLozier-Blanchet×12
Invite
C. DeLozier-Blanchet — researcher profile on SciRah

×8

Invite

C. Gehrig — researcher profile on SciRah

Invite

M. Meeks — researcher profile on SciRah

H. Mitchison×7

Invite

H. Mitchison — researcher profile on SciRah

U. Radhakrishna×5

Invite

U. Radhakrishna — researcher profile on SciRah

Invite

M. Jorissen — researcher profile on SciRah

Invite

A. Maiti — researcher profile on SciRah

Invite

M. Armengot — researcher profile on SciRah

Jean-Louis Blouin×4

Invite

Jean-Louis Blouin — researcher profile on SciRah