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Author Details

Juli??n Nevado
Institute of Medical and Molecular Genetics
1993
143
28
PMIDPaper TitleJournal TitlePublished Year
37953324The Human Phenotype Ontology in 2024: phenotypes around the world.Nucleic Acids Res2024
37904618Genetic and phenotypic findings in 34 novel Spanish patients with DDX3X neurodevelopmental disorder.Clin Genet2024
36308343A large, ten-generation family with autosomal dominant preaxial polydactyly/triphalangeal thumb: Historical, clinical, genealogical, and molecular studies.Am J Med Genet A2023
37628679Cognitive-Behavioral Profile in Pediatric Patients with Syndrome 5p-; Genotype-Phenotype Correlationships.Genes (Basel)2023
38003033NGS Custom Panel Implementation in Patients with Non-Syndromic Autism Spectrum Disorders in the Clinical Routine of a Tertiary Hospital.Genes (Basel)2023
37895227A Spanish Family with Gordon Syndrome Due to a Variant in the Acidic Motif of <i>WNK1</i>.Genes (Basel)2023
37702321Lamb-Shaffer syndrome: 20 Spanish patients and literature review expands the view of neurodevelopmental disorders caused by SOX5 haploinsufficiency.Clin Genet2023
37761804Snijders Blok-Campeau Syndrome: Description of 20 Additional Individuals with Variants in <i>CHD3</i> and Literature Review.Genes (Basel)2023
37107578Chromosomal Microarray in Patients with Non-Syndromic Autism Spectrum Disorders in the Clinical Routine of a Tertiary Hospital.Genes (Basel)2023
37372360Clinical Heterogeneity and Different Phenotypes in Patients with <i>SETD2</i> Variants: 18 New Patients and Review of the Literature.Genes (Basel)2023
37163416Adult experiences in Beckwith-Wiedemann syndrome.Am J Med Genet C Semin Med Genet2023
36871884Consensus recommendations on communication, language and speech in Phelan-McDermid syndrome.Eur J Med Genet2023
36640455Effect of HIV infection and antiretroviral therapy initiation on genome-wide DNA methylation patterns.EBioMedicine2023
36930806Haemophilia B, severe childhood obesity and other extra-haematological features associated with similar 4Mb-deletions on Xq27: Clinical findings, molecular insights and literature update.Haemophilia2023
34166509Longitudinal Changes in Epigenetic Age Acceleration in Aviremic Human Immunodeficiency Virus-Infected Recipients of Long-term Antiretroviral Treatment.J Infect Dis2022
35708486Novel genes and sex differences in COVID-19 severity.Hum Mol Genet2022
35703131[Prevalence and geographic distribution of the Wolf-Hirschhorn syndrome in Spain.]Rev Esp Salud Publica2022
36130591An HNRNPK-specific DNA methylation signature makes sense of missense variants and expands the phenotypic spectrum of Au-Kline syndrome.Am J Hum Genet2022
35985532Diverse mutational spectrum in the 13q14 chromosomal region in a Brazilian cohort of retinoblastoma.Exp Eye Res2022
35954470Clinical Spectrum and Tumour Risk Analysis in Patients with Beckwith-Wiedemann Syndrome Due to <i>CDKN1C</i> Pathogenic Variants.Cancers (Basel)2022
36084634Mutations in SCNM1 cause orofaciodigital syndrome due to minor intron splicing defects affecting primary cilia.Am J Hum Genet2022
36345041First step towards a consensus strategy for multi-locus diagnostic testing of imprinting disorders.Clin Epigenetics2022
33579810Preimplantation genetic testing for a chr14q32 microdeletion in a family with Kagami-Ogata syndrome and Temple syndrome.J Med Genet2022
35328058Clinical and Genetic Aspects of Phelan-McDermid Syndrome: An Interdisciplinary Approach to Management.Genes (Basel)2022
35327948Rapidly Progressing to ESRD in an Individual with Coexisting ADPKD and Masked Klinefelter and Gitelman Syndromes.Genes (Basel)2022
33442026Biallelic truncating variants in MAPKAPK5 cause a new developmental disorder involving neurological, cardiac, and facial anomalies combined with synpolydactyly.Genet Med2021
33794182Epigenetic age acceleration changes 2 years after antiretroviral therapy initiation in adults with HIV: a substudy of the NEAT001/ANRS143 randomised trial.Lancet HIV2021
33718801Next-generation Sequencing in Bone Marrow Failure Syndromes and Isolated Cytopenias: Experience of the Spanish Network on Bone Marrow Failure Syndromes.Hemasphere2021
33733630Prenatal ultrasound findings in Koolen-de Vries foetuses: Central nervous system anomalies are frequent markers of this syndrome.Mol Genet Genomic Med2021
33815457A Possible Association Between Zika Virus Infection and CDK5RAP2 Mutation.Front Genet2021
34516402High prevalence of variants in skeletal dysplasia associated genes in individuals with short stature and minor skeletal anomalies.Eur J Endocrinol2021
34394178Deep Phenotyping and Genetic Characterization of a Cohort of 70 Individuals With 5p Minus Syndrome.Front Genet2021
34068396Schuurs-Hoeijmakers Syndrome (<i>PACS1</i> Neurodevelopmental Disorder): Seven Novel Patients and a Review.Genes (Basel)2021
34345425Historical and geographical distribution of the founder mutation c.610G&gt;A; p.Ala204Thr in the <i>CLCNKB</i> gene linked to Bartter syndrome type III in Spain.Clin Kidney J2021
34345424Birth 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 J2021
33998134The 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 Genet2021
33996849Novel <i>TNIP2</i> and <i>TRAF2</i> Variants Are Implicated in the Pathogenesis of Pulmonary Arterial Hypertension.Front Med (Lausanne)2021
33451931Analysis of complex structural variants in the DMD gene in one family.Neuromuscul Disord2021
31549748Heterozygous pathogenic variants in GLI1 are a common finding in isolated postaxial polydactyly A/B.Hum Mutat2020
32043567Molecular characterization of Spanish patients with MECP2 duplication syndrome.Clin Genet2020
31769173International meeting on Wolf-Hirschhorn syndrome: Update on the nosology and new insights on the pathogenic mechanisms for seizures and growth delay.Am J Med Genet A2020
31972898Further definition of the proximal 19p13.3 microdeletion/microduplication syndrome and implication of PIAS4 as the major contributor.Clin Genet2020
33342995[Prevalence of the Phelan-McDermid Syndrome in Spain.]Rev Esp Salud Publica2020
33053334Interaction between KDELR2 and HSP47 as a Key Determinant in Osteogenesis Imperfecta Caused by Bi-allelic Variants in KDELR2.Am J Hum Genet2020
33076957Coping with Wolf-Hirschhorn syndrome: quality of life and psychosocial features of family carers.Orphanet J Rare Dis2020
33158290Oral Manifestations of Wolf-Hirschhorn Syndrome: Genotype-Phenotype Correlation Analysis.J Clin Med2020
32661356A six-attribute classification of genetic mosaicism.Genet Med2020
32630324Polyphenols Attenuate Highly-Glycosylated Haemoglobin-Induced Damage in Human Peritoneal Mesothelial Cells.Antioxidants (Basel)2020
32822873Neurofibromatosis type 2 in Phelan-McDermid syndrome: Institutional experience and review of the literature.Eur J Med Genet2020
32920771Implementation of chromosomal microarrays in a cohort of patients with intellectual disability at the Argentinean public health system.Mol Biol Rep2020
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Collaborators

Pablo Lapunzina
Institute of Medical and Molecular Genetics
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Jair Tenorio
Institute of Medical and Molecular Genetics, Hospital University La Paz
Co-authored papers 17
Angela Del Pozo
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Co-authored papers 7
Harry Pachajoa
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Co-authored papers 5
Guiomar Perez de Nanclares
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Co-authored papers 5
Kristina Iba??ez
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Co-authored papers 4
Berta Almoguera
Center for Biomedical Research in Rare Diseases Network
Co-authored papers 3
Berta Rodés
Co-authored papers 3
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La Paz University Hospital
Co-authored papers 3
Angel Carracedo
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Jaime Cruz-Rojo
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James R Lupski
Baylor College of Medicine
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Eva C Schulte
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H??lya Kayserili
Istanbul University
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Lluís Armengol
Co-authored papers 2
Isabel K Temple
University of Southampton
Co-authored papers 2
Andre Franke
Institute of Clinical Molecular Biology, Kiel University
Co-authored papers 1
Ferdinand Dhombres
Armand Trousseau Hospital, Sorbonne University
Co-authored papers 1
Bruno Donadille
Co-authored papers 1
Ana Rath
INSERM
Co-authored papers 1
David Ellinghaus
Co-authored papers 1
Cynthia Hawkins
The Hospital for Sick Children
Co-authored papers 1
Alexander J M Dingemans
Donders Institute for Brain, Radboud University Medical Center
Co-authored papers 1
Mahmoud Y Issa
Human Genetics and Genome Research Institute, National Research Centre
Co-authored papers 1
No??mi Dahan-Oliel
McGill University, Canada Shriners Hospital for Children-Canada
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Jon R Davids
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Matthias Griese
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Melissa A Haendel
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Release 1.2