| # | Title | Journal | Year | Citations |
|---|
| 1 | Clinical relevance of systematic phenotyping and exome sequencing in patients with short stature | Genetics in Medicine | 2018 | 101 |
| 2 | A molecular hypothesis to explain direct and inverse co-morbidities between Alzheimer’s Disease, Glioblastoma and Lung cancer | Scientific Reports | 2017 | 85 |
| 3 | Identification of the first recurrent PAR1 deletion in Léri-Weill dyschondrosteosis and idiopathic short stature reveals the presence of a novelSHOXenhancer | Journal of Medical Genetics | 2012 | 63 |
| 4 | Clinical, biochemical and genetic spectrum of low alkaline phosphatase levels in adults | European Journal of Internal Medicine | 2016 | 57 |
| 5 | Expanding the mutation spectrum in 182 Spanish probands with craniosynostosis: identification and characterization of novel TCF12 variants | European Journal of Human Genetics | 2015 | 53 |
| 6 | Haploidentical IL-15/41BBL activated and expanded natural killer cell infusion therapy after salvage chemotherapy in children with relapsed and refractory leukemia | Cancer Letters | 2018 | 49 |
| 7 | Mutations in C-natriuretic peptide (NPPC): a novel cause of autosomal dominant short stature | Genetics in Medicine | 2018 | 49 |
| 8 | A de novo non-sense mutation in ZBTB18 in a patient with features of the 1q43q44 microdeletion syndrome | European Journal of Human Genetics | 2014 | 45 |
| 9 | Identification of the first PAR1 deletion encompassing upstream SHOX enhancers in a family with idiopathic short stature | European Journal of Human Genetics | 2012 | 44 |
| 10 | SHOX interacts with the chondrogenic transcription factors SOX5 and SOX6 to activate the aggrecan enhancer | Human Molecular Genetics | 2011 | 43 |
| 11 | Further delineation of Malan syndrome | Human Mutation | 2018 | 42 |
| 12 | Novel diagnostic DNA methylation episignatures expand and refine the epigenetic landscapes of Mendelian disorders | Human Genetics and Genomics Advances | 2022 | 42 |
| 13 | Dietary treatment modulates mast cell phenotype, density, and activity in adult eosinophilic oesophagitis | Clinical and Experimental Allergy | 2016 | 39 |
| 14 | Molecular and clinical analysis of ALPL in a cohort of patients with suspicion of Hypophosphatasia | American Journal of Medical Genetics, Part A | 2017 | 36 |
| 15 | Heterozygous aggrecan variants are associated with short stature and brachydactyly: Description of 16 probands and a review of the literature | Clinical Endocrinology | 2018 | 34 |
| 16 | Toll-like receptors-mediated pathways activate inflammatory responses in the esophageal mucosa of adult eosinophilic esophagitis | Clinical and Translational Gastroenterology | 2018 | 31 |
| 17 | A verified genomic reference sample for assessing performance of cancer panels detecting small variants of low allele frequency | Genome Biology | 2021 | 29 |
| 18 | Profiling of conserved non-coding elements upstream of SHOX and functional characterisation of the SHOX cis-regulatory landscape | Scientific Reports | 2016 | 27 |
| 19 | The role of CDKN2A/B deletions in pediatric acute lymphoblastic leukemia | Pediatric Hematology and Oncology | 2016 | 26 |
| 20 | Genetic analyses of aplastic anemia and idiopathic pulmonary fibrosis patients with short telomeres, possible implication of DNA-repair genes | Orphanet Journal of Rare Diseases | 2019 | 21 |
| 21 | Clinical heterogeneity of Pulmonary Arterial Hypertension associated with variants in TBX4 | PLoS ONE | 2020 | 21 |
| 22 | Cross-oncopanel study reveals high sensitivity and accuracy with overall analytical performance depending on genomic regions | Genome Biology | 2021 | 20 |
| 23 | A clinical scoring system for congenital contractural arachnodactyly | Genetics in Medicine | 2020 | 17 |
| 24 | Mild isolated craniosynostosis due to a novel FGFR3 mutation, p.Ala334Thr | American Journal of Medical Genetics, Part A | 2011 | 13 |
| 25 | Development, behaviour and sensory processing in Marshall–Smith syndrome and Malan syndrome: phenotype comparison in two related syndromes | Journal of Intellectual Disability Research | 2020 | 13 |
| 26 | Next-generation Sequencing in Bone Marrow Failure Syndromes and Isolated Cytopenias: Experience of the Spanish Network on Bone Marrow Failure Syndromes | HemaSphere | 2021 | 11 |
| 27 | Early severe scoliosis in a patient with atypical progressive pseudorheumatoid dysplasia (PPD): Identification of two WISP3 mutations, one previously unreported | American Journal of Medical Genetics, Part A | 2016 | 10 |
| 28 | Identification of 15 novel partial SHOX deletions and 13 partial duplications, and a review of the literature reveals intron 3 to be a hotspot region | Journal of Human Genetics | 2017 | 10 |
| 29 | Study protocol for a phase II, multicentre, prospective, non-randomised clinical trial to assess the safety and efficacy of infusing allogeneic activated and expanded natural killer cells as consolidation therapy for paediatric acute myeloblastic leukaemia | BMJ Open | 2020 | 10 |
| 30 | Clinical utility gene card for: Leri-Weill dyschondrosteosis (LWD) and Langer mesomelic dysplasia (LMD) | European Journal of Human Genetics | 2012 | 9 |
| 31 | Loss of function BMP4 mutation supports the implication of the BMP/TGF‐β pathway in the etiology of combined pituitary hormone deficiency | American Journal of Medical Genetics, Part A | 2019 | 9 |
| 32 | Chromosome 1p31.1p31.3 Deletion in a Patient with Craniosynostosis, Central Nervous System and Renal Malformation: Case Report and Review of the Literature | Molecular Syndromology | 2017 | 8 |
| 33 | Familial glucocorticoid deficiency due to compound heterozygosity of two novel MC2R mutations | Journal of Pediatric Endocrinology and Metabolism | 2011 | 7 |
| 34 | Suprasellar mass mimicking a hypothalamic glioma in a patient with a complete PROP1 deletion | European Journal of Medical Genetics | 2013 | 7 |
| 35 | Identification of the fourth duplication of upstream IHH regulatory elements, in a family with craniosynostosis Philadelphia type, helps to define the phenotypic characterization of these regulatory elements | American Journal of Medical Genetics, Part A | 2015 | 7 |
| 36 | Identification of the first de novo PAR1 deletion downstream of SHOX in an individual diagnosed with Léri–Weill dyschondrosteosis (LWD) | European Journal of Medical Genetics | 2010 | 6 |
| 37 | A Novel Homozygous AMRH2 Gene Mutation in a Patient with Persistent Müllerian Duct Syndrome | Sexual Development | 2019 | 6 |
| 38 | Identification of the third FGF9 variant in a girl with multiple synostosis–comparison of the genotype:phenotype of FGF9 variants in humans and mice | Clinical Genetics | 2021 | 6 |
| 39 | Episignature Mapping of TRIP12 Provides Functional Insight into Clark–Baraitser Syndrome | International Journal of Molecular Sciences | 2022 | 6 |
| 40 | Larotrectinib as an Effective Therapy in Congenital Infantile Fibrosarcoma: Report of Two Cases | European Journal of Pediatric Surgery Reports | 2022 | 5 |
| 41 | Molecular characterization of Chilean patients with a clinical diagnosis of Noonan syndrome | Journal of Pediatric Endocrinology and Metabolism | 2014 | 4 |
| 42 | Copy number variants of Ras/MAPK pathway genes in patients with isolated cryptorchidism | Andrology | 2017 | 4 |
| 43 | Delineation of the clinical and radiological features of Stuve–Wiedemann syndrome childhood survivors, four new cases and review of the literature | American Journal of Medical Genetics, Part A | 2021 | 4 |
| 44 | Heterozygous variants in PRPF8 are associated with neurodevelopmental disorders | American Journal of Medical Genetics, Part A | 2022 | 4 |
| 45 | SHOX Deficiency in Argentinean Cohort: Long-Term Auxological Follow-Up and a Family's New Mutation | Journal of Pediatric Genetics | 2019 | 3 |
| 46 | Recurrence of Hirschsprung disease due to maternal mosaicism of a novel RET gene mutation | Clinical Genetics | 2014 | 2 |
| 47 | Prenatal diagnosis of fetal skeletal dysplasias in a tertiary Hospital in Spain | European Journal of Obstetrics, Gynecology and Reproductive Biology | 2020 | 2 |
| 48 | Reply to the article entitled “Identification of an 18 bp deletion in the TWIST1 gene by CO-amplification at lower denaturation temperature-PCR (COLD-PCR) for non-invasive prenatal diagnosis of craniosynostosis: first case report” by Galbiati et al., Clin Chem Lab Med 2014;52(4):505–9 | Clinical Chemistry and Laboratory Medicine | 2014 | 1 |
