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| 37953324 | The Human Phenotype Ontology in 2024: phenotypes around the world. | Nucleic Acids Res | 2024 |
| 37904618 | Genetic and phenotypic findings in 34 novel Spanish patients with DDX3X neurodevelopmental disorder. | Clin Genet | 2024 |
| 36308343 | A large, ten-generation family with autosomal dominant preaxial polydactyly/triphalangeal thumb: Historical, clinical, genealogical, and molecular studies. | Am J Med Genet A | 2023 |
| 37528566 | HLA-A*11:01 and HLA-C*04:01 are associated with severe COVID-19. | HLA | 2023 |
| 37628679 | Cognitive-Behavioral Profile in Pediatric Patients with Syndrome 5p-; Genotype-Phenotype Correlationships. | Genes (Basel) | 2023 |
| 38003033 | NGS Custom Panel Implementation in Patients with Non-Syndromic Autism Spectrum Disorders in the Clinical Routine of a Tertiary Hospital. | Genes (Basel) | 2023 |
| 37895315 | Seven Additional Patients with <i>SOX17</i> Related Pulmonary Arterial Hypertension and Review of the Literature. | Genes (Basel) | 2023 |
| 37895227 | A Spanish Family with Gordon Syndrome Due to a Variant in the Acidic Motif of <i>WNK1</i>. | Genes (Basel) | 2023 |
| 37702321 | Lamb-Shaffer syndrome: 20 Spanish patients and literature review expands the view of neurodevelopmental disorders caused by SOX5 haploinsufficiency. | Clin Genet | 2023 |
| 37761804 | Snijders Blok-Campeau Syndrome: Description of 20 Additional Individuals with Variants in <i>CHD3</i> and Literature Review. | Genes (Basel) | 2023 |
| 37107578 | Chromosomal Microarray in Patients with Non-Syndromic Autism Spectrum Disorders in the Clinical Routine of a Tertiary Hospital. | Genes (Basel) | 2023 |
| 37372360 | Clinical Heterogeneity and Different Phenotypes in Patients with <i>SETD2</i> Variants: 18 New Patients and Review of the Literature. | Genes (Basel) | 2023 |
| 37003575 | Definition and clinical variability of SHANK3-related Phelan-McDermid syndrome. | Eur J Med Genet | 2023 |
| 37163416 | Adult experiences in Beckwith-Wiedemann syndrome. | Am J Med Genet C Semin Med Genet | 2023 |
| 36403940 | Usefulness of genetics for clinical reclassification and refinement of prognostic stratification in pulmonary arterial hypertension. | Rev Esp Cardiol (Engl Ed) | 2023 |
| 36910046 | Is SARS-COV-2 associated with alpha-1 antitrypsin deficiency? | J Thorac Dis | 2023 |
| 36930806 | Haemophilia B, severe childhood obesity and other extra-haematological features associated with similar 4Mb-deletions on Xq27: Clinical findings, molecular insights and literature update. | Haemophilia | 2023 |
| 35296332 | Trans-acting genetic variants causing multilocus imprinting disturbance (MLID): common mechanisms and consequences. | Clin Epigenetics | 2022 |
| 35708486 | Novel genes and sex differences in COVID-19 severity. | Hum Mol Genet | 2022 |
| 35703131 | [Prevalence and geographic distribution of the Wolf-Hirschhorn syndrome in Spain.] | Rev Esp Salud Publica | 2022 |
| 35643636 | Novel genetic variants of KHDC3L and other members of the subcortical maternal complex associated with Beckwith-Wiedemann syndrome or Pseudohypoparathyroidism 1B and multi-locus imprinting disturbances. | Clin Epigenetics | 2022 |
| 35627312 | Description of Two New Cases of <i>AQP1</i> Related Pulmonary Arterial Hypertension and Review of the Literature. | Genes (Basel) | 2022 |
| 36072928 | Pain and health-related quality of life in patients with hypophosphatasemia with and without ALPL gene mutations. | Front Endocrinol (Lausanne) | 2022 |
| 35908153 | The recurrent TCF4 missense variant p.(Arg389Cys) causes a neurodevelopmental disorder overlapping with but not typical for Pitt-Hopkins syndrome. | Clin Genet | 2022 |
| 35872606 | Prenatal phenotyping: A community effort to enhance the Human Phenotype Ontology. | Am J Med Genet C Semin Med Genet | 2022 |
| 36360300 | Clinical and Genetic Analysis of Multiple Osteochondromas in A Cohort of Argentine Patients. | Genes (Basel) | 2022 |
| 36130591 | An HNRNPK-specific DNA methylation signature makes sense of missense variants and expands the phenotypic spectrum of Au-Kline syndrome. | Am J Hum Genet | 2022 |
| 36197437 | FOSL2 truncating variants in the last exon cause a neurodevelopmental disorder with scalp and enamel defects. | Genet Med | 2022 |
| 35985532 | Diverse mutational spectrum in the 13q14 chromosomal region in a Brazilian cohort of retinoblastoma. | Exp Eye Res | 2022 |
| 35954470 | Clinical Spectrum and Tumour Risk Analysis in Patients with Beckwith-Wiedemann Syndrome Due to <i>CDKN1C</i> Pathogenic Variants. | Cancers (Basel) | 2022 |
| 36084634 | Mutations in SCNM1 cause orofaciodigital syndrome due to minor intron splicing defects affecting primary cilia. | Am J Hum Genet | 2022 |
| 36345041 | First step towards a consensus strategy for multi-locus diagnostic testing of imprinting disorders. | Clin Epigenetics | 2022 |
| 33579810 | Preimplantation genetic testing for a chr14q32 microdeletion in a family with Kagami-Ogata syndrome and Temple syndrome. | J Med Genet | 2022 |
| 34850385 | Segmental undergrowth is associated with pathogenic variants in vascular malformation genes: A retrospective case-series study. | Clin Genet | 2022 |
| 35060122 | CIBERER: Spanish national network for research on rare diseases: A highly productive collaborative initiative. | Clin Genet | 2022 |
| 35327948 | Rapidly Progressing to ESRD in an Individual with Coexisting ADPKD and Masked Klinefelter and Gitelman Syndromes. | Genes (Basel) | 2022 |
| 33442026 | Biallelic truncating variants in MAPKAPK5 cause a new developmental disorder involving neurological, cardiac, and facial anomalies combined with synpolydactyly. | Genet Med | 2021 |
| 33718801 | Next-generation Sequencing in Bone Marrow Failure Syndromes and Isolated Cytopenias: Experience of the Spanish Network on Bone Marrow Failure Syndromes. | Hemasphere | 2021 |
| 33733630 | Prenatal ultrasound findings in Koolen-de Vries foetuses: Central nervous system anomalies are frequent markers of this syndrome. | Mol Genet Genomic Med | 2021 |
| 33815457 | A Possible Association Between Zika Virus Infection and CDK5RAP2 Mutation. | Front Genet | 2021 |
| 33863344 | Cross-oncopanel study reveals high sensitivity and accuracy with overall analytical performance depending on genomic regions. | Genome Biol | 2021 |
| 33527360 | TBL1XR1 associated intellectual disability, a new missense variant with dysmorphic features plus autism: Expanding the phenotypic spectrum. | Clin Genet | 2021 |
| 34500087 | Mosaic Variegated Aneuploidy syndrome 2 caused by biallelic variants in CEP57, two new cases and review of the phenotype. | Eur J Med Genet | 2021 |
| 34394178 | Deep Phenotyping and Genetic Characterization of a Cohort of 70 Individuals With 5p Minus Syndrome. | Front Genet | 2021 |
| 34068396 | Schuurs-Hoeijmakers Syndrome (<i>PACS1</i> Neurodevelopmental Disorder): Seven Novel Patients and a Review. | Genes (Basel) | 2021 |
| 34345425 | Historical and geographical distribution of the founder mutation c.610G>A; p.Ala204Thr in the <i>CLCNKB</i> gene linked to Bartter syndrome type III in Spain. | Clin Kidney J | 2021 |
| 34345424 | Birth of two healthy girls following preimplantation genetic diagnosis and gestational surrogacy in a rapidly progressive autosomal dominant polycystic kidney disease case using tolvaptan. | Clin Kidney J | 2021 |
| 34199176 | Novel Genetic and Molecular Pathways in Pulmonary Arterial Hypertension Associated with Connective Tissue Disease. | Cells | 2021 |
| 34196401 | Tenorio syndrome: Description of 14 novel cases and review of the clinical and molecular features. | Clin Genet | 2021 |
| 33998134 | The portrayal of dwarfism without skeletal dysplasia in art: Proportionate short stature due to growth hormone deficiency and other disorders. | Am J Med Genet C Semin Med Genet | 2021 |