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J. Martinovic · SciRah

Researcher profile · Semantic Scholar

J. Martinovic

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J. Martinovic — researcher profile on SciRah

h-index: 45
Works: 171
Citations: 6,865

Most-cited papers

Treacher Collins syndrome: a clinical and molecular study based on a large series of patients
M. Vincent, D. Geneviève, A. Ostertag, S. Marlin +52 more
2015Genetics in Medicine156 citations Open access
Semantic Scholar
Evidence for and against vertical transmission for severe acute respiratory syndrome coronavirus 2
A. Lamouroux, T. Attié-Bitach, J. Martinovic, M. Leruez-Ville +1 more
2020American Journal of Obstetrics and Gynecology148 citations Open access
Semantic Scholar
Molecular diagnosis of PIK3CA-related overgrowth spectrum (PROS) in 162 patients and recommendations for genetic testing
P. Kuentz, J. St‐Onge, Y. Duffourd, Jean-Benoît Courcet +57 more
2017Genetics in Medicine112 citations Open access
Semantic Scholar
Complex Compound Inheritance of Lethal Lung Developmental Disorders Due to Disruption of the TBX-FGF Pathway.
J. Karolak, M. Vincent, G. Deutsch, T. Gambin +68 more
2019American Journal of Human Genetics111 citations Open access
Semantic Scholar
Neuropathological review of 138 cases genetically tested for X-linked hydrocephalus: evidence for closely related clinical entities of unknown molecular bases
H. Adle-Biassette, P. Saugier-Veber, C. Fallet-Bianco, A. Delezoide +30 more
2013Acta Neuropathologica110 citations Open access
Semantic Scholar
Targeted Exome Sequencing Identifies PBX1 as Involved in Monogenic Congenital Anomalies of the Kidney and Urinary Tract.
L. Heidet, V. Moriniére, Charline Henry, L. De Tomasi +21 more
2017Journal of the American Society of Nephrology105 citations Open access
Semantic Scholar
Severe prenatal renal anomalies associated with mutations in HNF1B or PAX2 genes.
Leire Madariaga, V. Moriniére, C. Jeanpierre, R. Bouvier +14 more
2013American Society of Nephrology. Clinical Journal98 citations Open access
Semantic Scholar
Mutations in GREB1L Cause Bilateral Kidney Agenesis in Humans and Mice.
L. De Tomasi, P. David, Camille Humbert, F. Silbermann +27 more
2017American Journal of Human Genetics92 citations Open access
Semantic Scholar
Asphyxiating thoracic dysplasia: clinical and molecular review of 39 families
G. Baujat, C. Huber, J. El Hokayem, R. Caumes +17 more
2013Journal of Medical Genetics92 citations Open access
Semantic Scholar
C5orf42 is the major gene responsible for OFD syndrome type VI
E. Lopez, C. Thauvin-Robinet, B. Reversade, Nadia El Khartoufi +28 more
2013Human Genetics84 citations
Semantic Scholar
Analysis of human samples reveals impaired SHH-dependent cerebellar development in Joubert syndrome/Meckel syndrome
Andrea Aguilar, A. Meunier, L. Strehl, J. Martinovic +4 more
2012Proceedings of the National Academy of Sciences of the United States of America83 citations Open access
Semantic Scholar
Loss of function mutations in EPHB4 are responsible for vein of Galen aneurysmal malformation
A. Vivanti, A. Ozanne, Cynthia J. Grondin, G. Saliou +10 more
2018Brain : a journal of neurology62 citations Open access
Semantic Scholar
Stomach position versus liver-to-thoracic volume ratio in left-sided congenital diaphragmatic hernia
A. Cordier, M. Cannie, L. Guilbaud, J. de Laveaucoupet +9 more
2015Journal of Maternal-Fetal & Neonatal Medicine59 citations
Semantic Scholar
The expanding spectrum of COL2A1 gene variants IN 136 patients with a skeletal dysplasia phenotype
M. Barat-Houari, B. Dumont, A. Fabre, Frédéric TM Them +51 more
2015European Journal of Human Genetics52 citations Open access
Semantic Scholar
Phenotypic spectrum and genomics of undiagnosed arthrogryposis multiplex congenita
A. Laquérriere, Dana Jaber, E. Abiusi, J. Maluenda +87 more
2021Journal of Medical Genetics51 citations Open access
Semantic Scholar
Antenatal spectrum of CHARGE syndrome in 40 fetuses with CHD7 mutations
M. Legendre, M. Gonzalès, Géraldine Goudefroye, F. Bilan +30 more
2012Journal of Medical Genetics50 citations
Semantic Scholar
Bardet‐Biedl syndrome: Antenatal presentation of forty‐five fetuses with biallelic pathogenic variants in known Bardet‐Biedl syndrome genes
L. Mary, K. Chennen, C. Stoetzel, M. Antin +26 more
2019Clinical Genetics45 citations
Semantic Scholar
Loss‐of‐function mutations in KIF14 cause severe microcephaly and kidney development defects in humans and zebrafish
M. Reilly, M. Stokman, V. Magry, C. Jeanpierre +19 more
2018Human Molecular Genetics42 citations Open access
Semantic Scholar
Mutation analysis of the STRA6 gene in isolated and non‐isolated anophthalmia/microphthalmia
N. Chassaing, N. Ragge, A. Kariminejad, A. Buffet +3 more
2013Clinical Genetics40 citations
Semantic Scholar
Metabolic causes of nonimmune hydrops fetalis: A next-generation sequencing panel as a first-line investigation.
Bénédicte Sudrié-Arnaud, F. Marguet, S. Patrier, J. Martinovic +18 more
2018Clinica chimica acta; international journal of clinical chemistry39 citations
Semantic Scholar
Mosaic parental germline mutations causing recurrent forms of malformations of cortical development
Julia Lauer Zillhardt, K. Poirier, Loïc Broix, N. Lebrun +32 more
2015European Journal of Human Genetics37 citations Open access
Semantic Scholar
Pseudofeeders on fetal magnetic resonance imaging predict outcome in vein of Galen malformations
G. Saliou, I. Vraka, J. Teglas, M. Sénat +6 more
2017Annals of Neurology36 citations
Semantic Scholar
Dysregulation of the NRG1-ERBB pathway causes a developmental disorder with gastrointestinal dysmotility in humans.
Thuy-Linh Le, L. Galmiche, J. Lévy, P. Suwannarat +33 more
2021Journal of Clinical Investigation32 citations Open access
Semantic Scholar
WDR81 mutations cause extreme microcephaly and impair mitotic progression in human fibroblasts and Drosophila neural stem cells
M. Cavallin, M. Rujano, N. Bednarek, Daniel Medina-Cano +30 more
2017Brain : a journal of neurology32 citations Open access
Semantic Scholar
Chronic histiocytic intervillositis: manifestation of placental alloantibody-mediated rejection.
A. Benachi, M. Rabant, J. Martinovic, H. Bouchghoul +8 more
2021American Journal of Obstetrics and Gynecology31 citations Open access
Semantic Scholar
Rare ACTG1 variants in fetal microlissencephaly.
K. Poirier, J. Martinovic, A. Laquérriere, M. Cavallin +9 more
2015European Journal of Medical Genetics31 citations
Semantic Scholar
Severe and progressive neuronal loss in myelomeningocele begins before 16 weeks of pregnancy.
S. Ben Miled, L. Loeuillet, Jean-Paul Duong van Huyen, B. Bessières +16 more
2020American Journal of Obstetrics and Gynecology28 citations Open access
Semantic Scholar
Levator ani muscle innervation: Anatomical study in human fetus
K. Nyangoh Timoh, T. Bessede, C. Lebâcle, M. Zaitouna +7 more
2017Neurourology and Urodynamics27 citations
Semantic Scholar
Detailed muscular structure and neural control anatomy of the levator ani muscle: a study based on female human fetuses
K. Nyangoh Timoh, D. Moszkowicz, M. Zaitouna, C. Lebâcle +7 more
2018American Journal of Obstetrics and Gynecology26 citations
Semantic Scholar
Role of Ectonucleotidases in Synapse Formation During Brain Development: Physiological and Pathological Implications
I. Grković, D. Drakulić, J. Martinovic, N. Mitrović
2017Current Neuropharmacology26 citations Open access
Semantic Scholar
A series of 38 novel germline and somatic mutations of NIPBL in Cornelia de Lange syndrome
M. Nizon, Marcia Henry, C. Michot, C. Baumann +24 more
2016Clinical Genetics26 citations Open access
Semantic Scholar
PAK3 mutations responsible for severe intellectual disability and callosal agenesis inhibit cell migration.
Kévin Duarte, S. Heide, Sandrine Poëa-Guyon, V. Rousseau +11 more
2019Neurobiology of Disease20 citations Open access
Semantic Scholar
Confined blood chimerism in a monochorionic dizygotic sex discordant twin pregnancy conceived after induced ovulation.
Anne Mayeur Le Bras, F. Petit, A. Benachi, B. Bedel +9 more
2016Birth defects research. Clinical and molecular teratology19 citations
Semantic Scholar
Increased TGF-β: a drawback of tracheal occlusion in human and experimental congenital diaphragmatic hernia?
Aline Vuckovic, S. Herber-Jonat, A. Flemmer, I. Ruehl +7 more
2016American Journal of Physiology - Lung cellular and Molecular Physiology18 citations Open access
Semantic Scholar
Targeted next‐generation sequencing in a large series of fetuses with severe renal diseases
Pénélope Jordan, G. Dorval, Christelle Arrondel, V. Moriniére +25 more
2022Human Mutation17 citations Open access
Semantic Scholar
De novo mutations of SCN1A are responsible for arthrogryposis broadening the SCN1A-related phenotypes
Dana Jaber, C. Gitiaux, S. Blesson, F. Marguet +8 more
2020Journal of Medical Genetics17 citations Open access
Semantic Scholar
Congenital diaphragmatic hernia has a better prognosis when associated with a hernia sac
H. Bouchghoul, O. Marty, V. Fouquet, A. Cordier +6 more
2018Prenatal Diagnosis17 citations
Semantic Scholar
Evaluation of derived Coulter red blood cell parameters for the assessment of iron deficiency in adults with congenital heart disease
V. Dopsaj, G. Mikovic-Golubovic, J. Martinovic, D. Kalimanovska‐Oštrić
2012International Journal of Laboratory Hematology17 citations
Semantic Scholar
Umbilical vein thrombosis: to deliver or not to deliver at the time of diagnosis?
C. Dussaux, O. Picone, Guillemette Chambon, M. Tassin +3 more
2014Clinical Case Reports16 citations Open access
Semantic Scholar
Hematological, Oxidative Stress, and Immune Status Profiling in Elite Combat Sport Athletes
V. Dopsaj, J. Martinovic, M. Dopsaj, Goran Kasum +2 more
2013Journal of Strength and Conditioning Research16 citations Open access
Semantic Scholar
Pathogenic RAB34 variants impair primary cilium assembly and cause a novel oral-facial-digital syndrome.
A. Bruel, Anil Kumar Ganga, L. Nosková, I. Valenzuela +11 more
2023Human Molecular Genetics15 citations Open access
Semantic Scholar
Bi-allelic variations in CRB2, encoding the crumbs cell polarity complex component 2, lead to non-communicating hydrocephalus due to atresia of the aqueduct of sylvius and central canal of the medulla
A. Tessier, Nathalie Roux, L. Boutaud, E. Lunel +12 more
2023Acta Neuropathologica Communications15 citations Open access
Semantic Scholar
A retrospective study on the efficacy of prenatal diagnosis for pregnancies at risk of mitochondrial DNA disorders
J. Steffann, S. Monnot, M. Magen, Z. Assouline +11 more
2020Genetics in Medicine15 citations Open access
Semantic Scholar
Fetal phenotype of Rubinstein‐Taybi syndrome caused by CREBBP mutations
J. Van-Gils, Sophie Naudion, J. Toutain, Gwenaelle Lancelot +11 more
2019Clinical Genetics15 citations
Semantic Scholar
Think of the Conus Medullaris at the Time of Diagnosis of Fetal Sacral Agenesis
N. Mottet, J. Martinovic, C. Baeza, F. Guimiot +6 more
2016Fetal Diagnosis and Therapy15 citations
Semantic Scholar
The male external urethral sphincter is autonomically innervated
K. Nyangoh Timoh, D. Moszkowicz, M. Creze, M. Zaitouna +9 more
2020Clinical anatomy (New York, N.Y. Print)14 citations Open access
Semantic Scholar
Erratum to: 17β-Estradiol-Induced Synaptic Rearrangements Are Accompanied by Altered Ectonucleotidase Activities in Male Rat Hippocampal Synaptosomes
N. Mitrović, M. Zarić, D. Drakulić, J. Martinovic +4 more
2016Journal of Molecular Neuroscience14 citations Open access
Semantic Scholar
Human neuropathology confirms projection neuron and interneuron defects and delayed oligodendrocyte production and maturation in FOXG1 syndrome.
Nina-Maria Wilpert, F. Marguet, Camille Maillard, F. Guimiot +8 more
2021European Journal of Medical Genetics13 citations Open access
Semantic Scholar
Discovering a new part of the phenotypic spectrum of Coffin-Siris syndrome in a fetal cohort
P. J. van der Sluijs, M. Joosten, C. Alby, T. Attié-Bitach +51 more
2023Genetics in Medicine11 citations Open access
Semantic Scholar
Regional-specific effects of cerebral ischemia/reperfusion and dehydroepiandrosterone on synaptic NMDAR/PSD-95 complex in male Wistar rats.
M. Zarić, D. Drakulić, I. Stojanovic, N. Mitrović +2 more
2018Brain Research11 citations
Semantic Scholar

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