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Author

Javier Martini

Observed name: J. Martini
Institution: Centogene (Germany)
ORCID: 0000-0001-8219-5929
Observed ORCID: 0000-0001-8219-5929
OpenAlex ID: A5074254350
Prevalencia del síndrome de Down al nacimiento en Argentina
2019 · Javier Martini, María Paz Bidondo, et al. · Salud Colectiva · 20
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Biallelic variants in HECT E3 paralogs, HECTD4 and UBE3C, encoding ubiquitin ligases cause neurodevelopmental disorders that overlap with Angelman syndrome
2022 · Eissa A. Faqeih, Malak Ali Alghamdi, et al. · Genetics in Medicine · 15
A founder DBR1 variant causes a lethal form of congenital ichthyosis
2023 · Hanan E. Shamseldin, Mukunth Sadagopan, et al. · Human Genetics · 11
HIDEA syndrome is caused by biallelic, pathogenic, rare or founder P4HTM variants impacting the active site or the overall stability of the P4H‐TM protein
2022 · Minna Kraatari‐Tiri, Leila Soikkonen, et al. · Clinical Genetics · 9
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Systematic gene-disease relationship (GDR) curation unveils 61 gene-disease associations and highlights the impact on genetic testing
2023 · Emir Zonic, Mariana Ferreira, et al. · Genetics in Medicine Open · 4
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Biallelic Variants in TMEM17 Cause Meckel‐Gruber Syndrome Within the Ciliopathy Spectrum
2025 · Luba M. Pardo, Javier Martini, et al. · Clinical Genetics · 2
Author response for "Biallelic Variants in TMEM17 Cause Meckel‐Gruber Syndrome Within the Ciliopathy Spectrum"
2025 · Luba M. Pardo, Javier Martini, et al. · Publons reviews and discussion
P740: Impact of gene-disease relationship curation on patient diagnostics and panel design
2025 · Eleni Perraki, Mariana Ferreira, et al. · Genetics in Medicine Open
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Aplicación del puntaje de riesgo poligénico de colesterol-LDL elevado de seis SNP en población argentina con fenotipo de hipercolesterolemia familiar
2024 · Virginia Bañares, Javier Martini, et al. · Gaceta Médica de México
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P614: The clinical genome: Validation data beyond clinical exome
2024 · Kornelia Tripolszki, Melina Bilinski, et al. · Genetics in Medicine Open
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P576: Impact of processed pseudogene insertions in genetic testing as cause of monogenic diseases: Insertion in CLCN1 gene causing myotonia congenita
2023 · Kornelia Tripolszki, Javier Martini, et al. · Genetics in Medicine Open
LDL genetic risk score in patients with hypercholesterolemia to evaluate polygenic causes in Argentina
2020 · P. Corral, V. Bañares, et al. · Atherosclerosis
Works count: 12
Citation count: 61
H-index: 4
I10-index: 3
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