F. Santos-Simarro

发表

Disruptions of Topological Chromatin Domains Cause Pathogenic Rewiring of Gene-Enhancer Interactions

A. Visel, J. Opitz, D. Horn, 2015, Cell.

Prenatal ultrasound findings in Koolen‐de Vries foetuses: Central nervous system anomalies are frequent markers of this syndrome

P. Lapunzina, F. Santos-Simarro, J. Nevado, 2021, Molecular genetics & genomic medicine.

Phenylalanine Hydroxylase (PAH) Genotyping in PKU Argentine Patients

P. Lapunzina, F. Santos-Simarro, A. Chiesa, 2019, Journal of Inborn Errors of Metabolism and Screening.

Spectrum of mutations and genotype–phenotype analysis in Noonan syndrome patients with RIT1 mutations

O. Migita, P. Lapunzina, T. Ogata, 2016, Human Genetics.

ZTTK syndrome: Clinical and molecular findings of 15 cases and a review of the literature

N. Brunetti‐Pierri, M. Mansukhani, F. Santos-Simarro, 2021, American journal of medical genetics. Part A.

Familial imbalance in 16p13.11 leads to a dosage compensation rearrangement in an unaffected carrier

P. Lapunzina, F. Santos-Simarro, J. Nevado, 2014, BMC Medical Genetics.

In-frame Variants in FLNA Proximal Rod 1 Domain Associate With a Predominant Cardiac Valvular Phenotype.

P. Lapunzina, F. Santos-Simarro, J. Nevado, 2017, Revista espanola de cardiologia.

Mosaic Variegated Aneuploidy syndrome 2 caused by biallelic variants in CEP57, two new cases and review of the phenotype.

P. Lapunzina, F. Santos-Simarro, R. Mena, 2021, European journal of medical genetics.

Variable pulmonary manifestations in Chitayat syndrome: Six additional affected individuals.

S. Mundlos, M. Holtgrewe, F. Santos-Simarro, 2020, American journal of medical genetics. Part A.

Genomic and phenotypic characterization of 404 individuals with neurodevelopmental disorders caused by CTNNB1 variants.

Ethan M. Goldberg, J. Gécz, M. Tress, 2022, Genetics in medicine : official journal of the American College of Medical Genetics.

Pitfalls of trio-based exome sequencing: imprinted genes and parental mosaicism—MAGEL2 as an example

P. Lapunzina, F. Santos-Simarro, K. Ibáñez, 2017, Genetics in Medicine.

Prenatal diagnosis of fetal skeletal dysplasias in a tertiary Hospital in Spain.

F. Santos-Simarro, J. Bartha, R. Rodríguez, 2020, European journal of obstetrics, gynecology, and reproductive biology.

Discovering a new part of the phenotypic spectrum of Coffin-Siris syndrome in a fetal cohort.

J. Rosenfeld, A. V. Vulto-van Silfhout, E. Eichler, 2022, Genetics in medicine : official journal of the American College of Medical Genetics.

Functional correlation of genome‐wide DNA methylation profiles in genetic neurodevelopmental disorders

J. Gécz, S. Robertson, R. Stevenson, 2022, Human mutation.

Schuurs–Hoeijmakers Syndrome (PACS1 Neurodevelopmental Disorder): Seven Novel Patients and a Review

Á. Carracedo, L. Pérez-Jurado, P. Lapunzina, 2021, Genes.

Pathogenic variants in KPTN, a rare cause of macrocephaly and intellectual disability

P. Lapunzina, F. Santos-Simarro, Á. Del Pozo, 2020, American journal of medical genetics. Part A.

A New Overgrowth Syndrome is due to Mutations in RNF125

J. Dopazo, D. Montaner, E. López-Granados, 2014, Human mutation.

Delineation of the clinical and radiological features of Stuve–Wiedemann syndrome childhood survivors, four new cases and review of the literature

F. Santos-Simarro, Carmen Rodríguez-Jiménez, Á. Del Pozo, 2020, American journal of medical genetics. Part A.

Noncoding copy-number variations are associated with congenital limb malformation

D. Horn, S. Mundlos, M. Spielmann, 2017, Genetics in Medicine.

Truncating SRCAP variants outside the Floating-Harbor syndrome locus cause a distinct neurodevelopmental disorder with a specific DNA methylation signature

S. Scherer, L. Vissers, R. Pfundt, 2021, American journal of human genetics.

Pathogenetics of alveolar capillary dysplasia with misalignment of pulmonary veins

Kristin M. Scheible, U. Surti, P. Stankiewicz, 2016, Human Genetics.

De novo missense variants in FBXO11 alter its protein expression and subcellular localization

N. Brown, A. Toutain, M. Shinawi, 2021, Human molecular genetics.

Expanding the Phenotypic Spectrum of PAX6 Mutations: From Congenital Cataracts to Nystagmus

F. Santos-Simarro, E. Vallespín, Á. Del Pozo, 2021, Genes.

Novel diagnostic DNA methylation episignatures expand and refine the epigenetic landscapes of Mendelian disorders

J. Gécz, S. Robertson, R. Stevenson, 2021, HGG advances.

OPA1 Dominant Optic Atrophy: Diagnostic Approach in the Pediatric Population

F. Santos-Simarro, E. Vallespín, Á. Del Pozo, 2023, Current issues in molecular biology.

Episignature Mapping of TRIP12 Provides Functional Insight into Clark–Baraitser Syndrome

S. Julia, D. Wieczorek, H. Van Esch, 2022, International journal of molecular sciences.

Further delineation of putative ACTB loss‐of‐function variants: A 4‐patient series

F. Santos-Simarro, E. Beaver, G. Povysil, 2020, Human mutation.

Mutations in PERP Cause Dominant and Recessive Keratoderma.

R. Lifton, Y. Helfrich, F. Santos-Simarro, 2019, The Journal of investigative dermatology.

Variability in Phelan-McDermid Syndrome in a Cohort of 210 Individuals

J. Cigudosa, B. Gener, L. Pérez-Jurado, 2022, Frontiers in Genetics.

PIAS4 is associated with macro/microcephaly in the novel interstitial 19p13.3 microdeletion/microduplication syndrome

Stephanie E. Vallee, J. Rosenfeld, C. Haldeman-Englert, 2015, European Journal of Human Genetics.

Clinical description, molecular delineation, and genotype-phenotype correlation in KBG syndrome: 67 new patients and review of the literature.

Lago, I. Mahillo, B. Gener, 2022, medRxiv.

Clinical and molecular analyses of Beckwith–Wiedemann syndrome: Comparison between spontaneous conception and assisted reproduction techniques

M. Fraga, M. Esteller, P. Lapunzina, 2016, American journal of medical genetics. Part A.

Infigratinib in children with achondroplasia: the PROPEL and PROPEL 2 studies

M. Irving, F. Santos-Simarro, J. Hoover-Fong, 2022, Therapeutic advances in musculoskeletal disease.

Functional Characterization of NIPBL Physiological Splice Variants and Eight Splicing Mutations in Patients with Cornelia de Lange Syndrome

P. Lapunzina, F. Santos-Simarro, B. Puisac, 2014, International journal of molecular sciences.

Spectrum of mutations and genotype–phenotype analysis in Noonan syndrome patients with RIT1 mutations

O. Migita, P. Lapunzina, T. Ogata, 2016, Human Genetics.

CLAPO syndrome: identification of somatic activating PIK3CA mutations and delineation of the natural history and phenotype

P. Lapunzina, F. Santos-Simarro, K. Ibáñez, 2018, Genetics in Medicine.

Severe congenital nephrogenic diabetes insipidus in a compound heterozygote with a new large deletion of the AQP2 gene. A case report

P. Lapunzina, F. Santos-Simarro, J. Nevado, 2019, Molecular genetics & genomic medicine.

Gain-of-Function Mutations in KCNN3 Encoding the Small-Conductance Ca2+-Activated K+ Channel SK3 Cause Zimmermann-Laband Syndrome.

F. Kortüm, K. Gripp, F. Santos-Simarro, 2019, American journal of human genetics.

Phenotypic expansion of CACNA1C-associated disorders to include isolated neurological manifestations

William E. Byrd, Mercedes E. Alejandro, Mahshid S. Azamian, 2021, Genetics in Medicine.

Next-Generation Sequencing Screening of 43 Families with Non-Syndromic Early-Onset High Myopia: A Clinical and Genetic Study

F. Santos-Simarro, E. Vallespín, Á. Del Pozo, 2022, International journal of molecular sciences.

Further delineation of neuropsychiatric findings in Tatton-Brown-Rahman syndrome due to disease-causing variants in DNMT3A: seven new patients

Miguel Ángel Martínez, N. Rahman, Pablo I Alarcón, 2019, European Journal of Human Genetics.

Further delineation of Malan syndrome

R. Hennekam, C. Shaw-Smith, F. Alkuraya, 2018, Human mutation.

delineation of Malan syndrome.

R. Hennekam, C. Shaw-Smith, F. Alkuraya, 2018 .

The clinical and molecular spectrum of QRICH1 associated neurodevelopmental disorder

Undiagnosed Diseases Network, J. Rosenfeld, N. Brown, 2021, Human mutation.

Correction: Phenotypic expansion of CACNA1C-associated disorders to include isolated neurological manifestations

William E. Byrd, Mercedes E. Alejandro, Mahshid S. Azamian, 2021, Genetics in Medicine.

I. Thiffault, F. Santos-Simarro, E. Engle, 2019, Clinical genetics.

Congenital generalized lipodystrophy: identification of novel variants and expansion of clinical spectrum

F. Santos-Simarro, A. Garg, F. Collins, 2016, Clinical genetics.

mTOR mutations in Smith‐Kingsmore syndrome: Four additional patients and a review

P. Lapunzina, F. Santos-Simarro, K. Ibáñez, 2018, Clinical genetics.

PIGN encephalopathy: Characterizing the epileptology

I. Scheffer, H. Mefford, A. Reymond, 2022, Epilepsia.

Variants in members of the cadherin–catenin complex, CDH1 and CTNND1, cause blepharocheilodontic syndrome

R. Hennekam, H. Kayserili, P. Lapunzina, 2018, European Journal of Human Genetics.

Costello Syndrome and Umbilical Ligament Rhabdomyosarcoma in Two Pediatric Patients: Case Reports and Review of the Literature

P. Lapunzina, F. Santos-Simarro, J. Tenorio, 2017, Case reports in genetics.

Broadening the phenotypic spectrum of EVEN‐PLUS syndrome through identification of HSPA9 pathogenic variants in the original EVE dysplasia family and two sibs with milder facial phenotype

F. Santos-Simarro, R. Mena, J. Amiel, 2022, American journal of medical genetics. Part A.

Two novel POC1A mutations in the primordial dwarfism, SOFT syndrome: Clinical homogeneity but also unreported malformations

P. Lapunzina, F. Santos-Simarro, Á. Del Pozo, 2016, American journal of medical genetics. Part A.

Development, behaviour and sensory processing in Marshall-Smith syndrome and Malan syndrome: phenotype comparison in two related syndromes.

R. Hennekam, C. Shaw-Smith, F. Alkuraya, 2020, Journal of intellectual disability research : JIDR.

[Overgrowth syndromes and development of embryonic tumours: A review of cases in the last 5 years].

P. Lapunzina, F. Santos-Simarro, J. Tenorio, 2016, Anales de pediatria.

A new variant in PHKA2 is associated with glycogen storage disease type IXa

P. Lapunzina, F. Santos-Simarro, R. Mena, 2017, Molecular genetics and metabolism reports.

New insights into genetic variant spectrum and genotype–phenotype correlations of Rubinstein‐Taybi syndrome in 39 CREBBP‐positive patients

F. Santos-Simarro, J. Armstrong, M. Ramos-Arroyo, 2019, Molecular genetics & genomic medicine.

The neurodevelopmental and facial phenotype in individuals with a TRIP12 variant

Q. Waisfisz, S. Julia, D. Wieczorek, 2023, European Journal of Human Genetics.

CLAPO syndrome: identification of somatic activating PIK3CA mutations and delineation of the natural history and phenotype

P. Lapunzina, F. Santos-Simarro, K. Ibáñez, 2017, bioRxiv.

Biallelic MADD variants cause a phenotypic spectrum ranging from developmental delay to a multisystem disorder.

William E. Byrd, David R. Murdock, Marni J. Falk, 2020, Brain : a journal of neurology.

NOTCH1 Gene as a Novel Cause of Thoracic Aortic Aneurysm in Patients with Tricuspid Aortic Valve: Two Cases Reported

D. Heine-Suñer, F. Santos-Simarro, L. Torres-Juan, 2023, International journal of molecular sciences.

Exome sequencing in Crisponi/cold‐induced sweating syndrome–like individuals reveals unpredicted alternative diagnoses

F. Muntoni, F. Cucca, A. Fry, 2019, Clinical genetics.

FGF9 mutation causes craniosynostosis along with multiple synostoses

F. Santos-Simarro, M. Glucksman, E. Vallespín, 2017, Human mutation.

Rubinstein-Taybi 2 associated to novel EP300 mutations: deepening the clinical and genetic spectrum

F. Santos-Simarro, J. Armstrong, E. Domínguez-Garrido, 2018, BMC Medical Genetics.

Eye coloboma and complex cardiac malformations belong to the clinical spectrum of PUF60 variants

P. Lapunzina, F. Santos-Simarro, K. Ibáñez, 2017, Clinical genetics.

Translation and Cross-Cultural Adaptation with Preliminary Validation of GCOS-24 for Use in Spain

F. Santos-Simarro, Alexandra N. Stephens, M. McAllister, 2018, Journal of Genetic Counseling.

Molecular and Genetic Mechanism of Non-Syndromic Congenital Cataracts. Mutation Screening in Spanish Families

F. Santos-Simarro, E. Vallespín, Á. Del Pozo, 2021, Genes.

Chromosomal Microarray in Patients with Non-Syndromic Autism Spectrum Disorders in the Clinical Routine of a Tertiary Hospital

P. Lapunzina, F. Santos-Simarro, J. Nevado, 2023, Genes.

A large, ten‐generation family with autosomal dominant preaxial polydactyly/triphalangeal thumb: Historical, clinical, genealogical, and molecular studies

S. Mundlos, P. Lapunzina, F. Santos-Simarro, 2022, American journal of medical genetics. Part A.

Clinical Heterogeneity and Different Phenotypes in Patients with SETD2 Variants: 18 New Patients and Review of the Literature

P. Lapunzina, F. Santos-Simarro, J. Nevado, 2023, Genes.

Alport Syndrome: De Novo Mutation in the COL4A5 Gene Converting Glycine 1205 to Valine

F. Santos-Simarro, C. López, Pilar Anton-Martin, 2012, Clinical Medicine Insights: Pediatrics.

Genotypic Findings in Noonan and Non-Noonan RASopathies and Patient Eligibility for Growth Hormone Treatment

F. Santos-Simarro, B. Ezquieta, E. Guillén-Navarro, 2023, Journal of clinical medicine.

Evolution of clinical and radiological presentations of spondyloepimetaphyseal dysplasia, RPL13‐related: Description of 11 further cases

F. Santos-Simarro, S. Sousa, K. Heath, 2023, Clinical genetics.

Case report: A third variant in the 5′ UTR of TWIST1 creates a novel upstream translation initiation site in a child with Saethre-Chotzen syndrome

S. Twigg, F. Santos-Simarro, F. Carceller-Benito, 2023, Frontiers in Genetics.

Tenorio syndrome: Description of 14 novel cases and review of the clinical and molecular features

A. Bayat, P. Lapunzina, F. Santos-Simarro, 2021, Clinical genetics.

Donnai– Barrow Syndrome in Two Sisters with a Homozygous LRP2 Mutation and Renal Dysfunction. Integral Management of the Disease with Review of the Literature.

P. Lapunzina, F. Santos-Simarro, J. Nevado, 2020 .

Neuropathological Findings in Short-Chain enoyl-CoA Hydratase 1 Deficiency (ECHS1D): Case Report and Differential Diagnosis

F. Santos-Simarro, M. Saénz de Pipaón, Belén Pérez, 2022, Pediatric and developmental pathology : the official journal of the Society for Pediatric Pathology and the Paediatric Pathology Society.

High prevalence of variants in skeletal dysplasia associated genes in individuals with short stature and minor skeletal anomalies.

F. Santos-Simarro, J. Nevado, C. de la Torre, 2021, European journal of endocrinology.

NGS Custom Panel Implementation in Patients with Non-Syndromic Autism Spectrum Disorders in the Clinical Routine of a Tertiary Hospital

P. Lapunzina, F. Santos-Simarro, J. Nevado, 2023, Genes.

Genetic and phenotypic findings in 34 novel Spanish patients with DDX3X neurodevelopmental disorder.

P. Lapunzina, F. Santos-Simarro, J. Nevado, 2023, Clinical genetics.

Variants in members of the cadherin–catenin complex, CDH1 and CTNND1, cause blepharocheilodontic syndrome

R. Hennekam, H. Kayserili, P. Lapunzina, 2018, European Journal of Human Genetics.

Clinical description, molecular delineation and genotype–phenotype correlation in 340 patients with KBG syndrome: addition of 67 new patients

Lago, I. Mahillo, B. Gener, 2022, Journal of Medical Genetics.

Alport Syndrome: De Novo Mutation in the COL4A5 Gene Converting Glycine 1205 to Valine

G. Zhai, F. Santos-Simarro, S. Ramiro-León, 2012, Clinical medicine insights. Pediatrics.

Chondrodysplasia punctata associated with maternal Sjögren syndrome

F. Santos-Simarro, F. Omeñaca, S. García-Miñaúr, 2014, American journal of medical genetics. Part A.