Sixto García‐Miñáur

Hospital Universitario La Paz — Spain

Biochemistry, Genetics and Molecular Biology · Life Sciences

38h-index4.5kcitations135works10.82yr avg
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Research Topics

Congenital heart defects research(31), Genetics and Neurodevelopmental Disorders(27), Genomic variations and chromosomal abnormalities(26), Genomics and Rare Diseases(19), RNA modifications and cancer(13)

Publications133 total

Rapid genome sequencing in neonatal and pediatric intensive care units. Evidence and current situation
Anales de Pediatría (English Edition)·2025Open Access
Secuenciación genómica rápida en unidades de críticos neonatales y pediátricas. Evidencias y situación actual
Anales de Pediatría·2025Open Access
Loss of function of the zinc finger homeobox 4 gene, ZFHX4, underlies a neurodevelopmental disorder
The American Journal of Human Genetics·2025· 6 citedOpen Access
Loss-of-function of the Zinc Finger Homeobox 4 ( <i>ZFHX4</i> ) gene underlies a neurodevelopmental disorder
2024· 6 citedOpen Access
Risk of meningomyelocele mediated by the common 22q11.2 deletion
Science·2024· 18 citedOpen Access
Diagnosis and management in Rubinstein-Taybi syndrome: first international consensus statement
Journal of Medical Genetics·2024· 35 citedOpen Access
Prenatal vs postnatal diagnosis of 22q11.2 deletion syndrome: cardiac and noncardiac outcomes through 1 year of age
American Journal of Obstetrics and Gynecology·2023· 14 citedOpen Access
Chromatin regulators in the TBX1 network confer risk for conotruncal heart defects in 22q11.2DS
npj Genomic Medicine·2023· 11 citedOpen Access
Chromosomal Microarray in Patients with Non-Syndromic Autism Spectrum Disorders in the Clinical Routine of a Tertiary Hospital
Genes·2023· 4 citedOpen Access
Gathering the Stakeholder’s Perspective: Experiences and Opportunities in Rare Genetic Disease Research
Genes·2023· 4 citedOpen Access
Prenatal Screening and Diagnostic Considerations for 22q11.2 Microdeletions
Genes·2023· 33 citedOpen Access
Clinical description, molecular delineation and genotype–phenotype correlation in 340 patients with KBG syndrome: addition of 67 new patients
Journal of Medical Genetics·2022· 18 citedOpen Access
Chromatin regulators in the TBX1 network confer risk for conotruncal heart defects in 22q11.2DS and sporadic congenital heart disease
2022Open Access
Genomic and phenotypic characterization of 404 individuals with neurodevelopmental disorders caused by CTNNB1 variants
Genetics in Medicine·2022· 48 citedOpen Access
Broadening the phenotypic spectrum of <scp>EVEN‐PLUS</scp> syndrome through identification of <scp><i>HSPA9</i></scp> pathogenic variants in the original <scp>EVE</scp> dysplasia family and two sibs with milder facial phenotype
American Journal of Medical Genetics Part A·2022· 2 cited
Clinical description, molecular delineation and genotype-phenotype correlation in 340 patients with KBG syndrome: Addition of 67 new patients
2022· 1 citedOpen Access
Variability in Phelan-McDermid Syndrome in a Cohort of 210 Individuals
Frontiers in Genetics·2022· 49 citedOpen Access
The natural history of adults with Rubinstein-Taybi syndrome: a families-reported experience
European Journal of Human Genetics·2022· 13 citedOpen Access
The COVID‐19 pandemic's impact on worry and medical disruptions reported by individuals with chromosome 22q11.2 copy number variants and their caregivers
Journal of Intellectual Disability Research·2022· 3 citedOpen Access
Management of growth failure and other endocrine aspects in patients with Noonan syndrome across Europe: A sub-analysis of a European clinical practice survey
European Journal of Medical Genetics·2021· 11 citedOpen Access
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Frequent Co-authors

Pablo Lapunzina(16), María Palomares‐Bralo(15), Fernando Santos‐Simarro(15), Julián Nevado(13), Elena Vallespín(9), Víctor Martínez‐Glez(9), Jair Tenorio(7), Encarna Guillén‐Navarro(7), Ann Swillen(6), Donna M. McDonald‐McGinn(6), Anne S. Bassett(6), Fernando Santos(6), Elena Mansilla(6), Luís Fernández(6), Alicia Delicado(6), Raquel E. Gur(5), Rocío Mena(5), María Ángeles Mori(5), María Torres(5), Elaine H. Zackai(5)