F. Ramos

F. Ramos, J. Fleta, J. Castillo, 1996, European journal of clinical microbiology & infectious diseases : official publication of the European Society of Clinical Microbiology.

A Novel Domain‐Specific Mutation in a Sclerosteosis Patient Suggests a Role of LRP4 as an Anchor for Sclerostin in Human Bone

Igor Fijalkowski, Geert Mortier, G. Mortier, 2016, Journal of bone and mineral research : the official journal of the American Society for Bone and Mineral Research.

Clinical relevance of postzygotic mosaicism in Cornelia de Lange syndrome and purifying selection of NIPBL variants in blood

B. Puisac, M. Arnedo, P. Gómez-Puertas, 2021, Scientific Reports.

Epigenetic Modification of the FMR1 Gene in Fragile X Syndrome Is Associated with Differential Response to the mGluR5 Antagonist AFQ056

Janice Branson, Jacques S. Beckmann, Nouchine Hadjikhani, 2011, Science Translational Medicine.

Frequency of the common fragile site at Xq27.2 under conditions of thymidylate stress: implications for cytogenetic diagnosis of the fragile-X syndrome.

N. Spinner, B. Emanuel, F. Ramos, 1992, American journal of medical genetics.

De Novo Heterozygous Mutations in SMC3 Cause a Range of Cornelia de Lange Syndrome‐Overlapping Phenotypes

J. Ganesh, I. Krantz, H. Hakonarson, 2015, Human mutation.

De Novo Heterozygous Mutations in SMC 3 Cause a Range of Cornelia de Lange Syndrome-Overlapping Phenotypes Marı́a

J. Ganesh, I. Krantz, H. Hakonarson, 2015 .

Loss-of-function HDAC8 mutations cause a phenotypic spectrum of Cornelia de Lange syndrome-like features, ocular hypertelorism, large fontanelle and X-linked inheritance.

I. Krantz, H. Hakonarson, E. Roeder, 2014, Human molecular genetics.

Pathogenic variants in EP300 and ANKRD11 in patients with phenotypes overlapping Cornelia de Lange syndrome

B. Puisac, J. Pié, F. Ramos, 2020, American journal of medical genetics. Part A.

Tricho-rhino-phalangeal syndrome type II (Langer-Giedion) with persistent cloaca and prune belly sequence in a girl with 8q interstitial deletion.

E. Zackai, B. Emanuel, F. Ramos, 1992, American journal of medical genetics.

Mutations in cohesin complex members SMC3 and SMC1A cause a mild variant of cornelia de Lange syndrome with predominant mental retardation.

I. Krantz, D. Dorsett, V. Siu, 2007, American journal of human genetics.

Clinical utility gene card for: Cornelia de Lange syndrome

I. Krantz, R. Hennekam, D. Fitzpatrick, 2014, European Journal of Human Genetics.

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.

Cornelia de Lange syndrome: Extending the physical and psychological phenotype

R. Hennekam, D. Fitzpatrick, R. Hennekam, 2010, American journal of medical genetics. Part A.

Further evidence that the Hajdu-Cheney syndrome and the "serpentine fibula-polycystic kidney syndrome" are a single entity.

E. Zackai, P. Kaplan, F. Ramos, 1998, American journal of medical genetics.

Mutations in chromatin regulators functionally link Cornelia de Lange syndrome and clinically overlapping phenotypes

T. Strom, D. Wieczorek, E. Watrin, 2017, Human Genetics.

The importance of rare diseases: from the gene to society

Arunas Valiulis, Zachi Grossman, Feliciano Ramos, 2010, Archives of Disease in Childhood.

MAU2 and NIPBL Variants Impair the Heterodimerization of the Cohesin Loader Subunits and Cause Cornelia de Lange Syndrome.

T. Strom, T. Schwarzmayr, E. Watrin, 2020, Cell reports.

MAU2 and NIPBL variants in Cornelia de Lange syndrome reveal MAU2-independent loading of cohesin and uncover a protective mechanism against early truncating mutations in NIPBL

T. Strom, T. Schwarzmayr, E. Watrin, 2018, bioRxiv.

Recurrent Mutations in the Basic Domain of TWIST2 Cause Ablepharon Macrostomia and Barber-Say Syndromes.

Barbara N. Pusey, Janice S. Lee, A. V. Vulto-van Silfhout, 2015, American journal of human genetics.

Identification and Functional Characterization of Two Intronic NIPBL Mutations in Two Patients with Cornelia de Lange Syndrome

D. Wieczorek, B. Puisac, M. Teresa-Rodrigo, 2016, BioMed research international.

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.

Molecular Testing for Fragile X: Analysis of 5062 Tests from 1105 Fragile X Families—Performed in 12 Clinical Laboratories in Spain

M. Tejada, F. Martínez, C. Hernández-Chico, 2014, BioMed research international.

[Clinical guideline of gene FMR1-associated diseases: fragile X syndrome, primary ovarian insufficiency and tremor-ataxia syndrome].

M. Tejada, F. Ramos, M. Milá, 2014, Medicina clinica.

Risk of cognitive impairment in female premutation carriers of fragile X premutation: Analysis by means of robust segmented linear regression models

M. Tejada, F. Ramos, M. Ribate, 2009, American journal of medical genetics. Part B, Neuropsychiatric genetics : the official publication of the International Society of Psychiatric Genetics.

Rare Variants in 48 Genes Account for 42% of Cases of Epilepsy With or Without Neurodevelopmental Delay in 246 Pediatric Patients

F. Ramos, O. Moldovan, M. Couce, 2019, Front. Neurosci..

mRNA Quantification of NIPBL Isoforms A and B in Adult and Fetal Human Tissues, and a Potentially Pathological Variant Affecting Only Isoform A in Two Patients with Cornelia de Lange Syndrome

B. Puisac, M. Teresa-Rodrigo, M. Gil-Rodríguez, 2017, International journal of molecular sciences.

Characterization of splice variants of the genes encoding human mitochondrial HMG-CoA lyase and HMG-CoA synthase, the main enzymes of the ketogenesis pathway

J. Wesselink, B. Puisac, M. Teresa-Rodrigo, 2012, Molecular Biology Reports.

Targeted Gene Sequencing, Bone Health, and Body Composition in Cornelia de Lange Syndrome

L. Moreno, B. Puisac, M. Arnedo, 2021, Applied Sciences.

A double‐blind, parallel, multicenter comparison of L‐acetylcarnitine with placebo on the attention deficit hyperactivity disorder in fragile X syndrome boys

L. Vallée, G. Neri, F. Ramos, 2008, American journal of medical genetics. Part A.

Sclerosteosis in a Spanish male: first report in a person of Mediterranean origin.

F. Ramos, M. Bueno, J. Garagorri, 1994, Journal of medical genetics.

Delineation of phenotypes and genotypes related to cohesin structural protein RAD21

R. Hennekam, Z. Tümer, F. Martínez, 2020, Human Genetics.

Somatic mosaicism in a Cornelia de Lange syndrome patient with NIPBL mutation identified by different next generation sequencing approaches

T. Strom, B. Gener, T. Schwarzmayr, 2014, Clinical genetics.

Characterization of a highly polymorphic dinucleotide repeat 150 KB proximal to the fragile X site.

J. Sutcliffe, G. Riggins, D. Nelson, 1992, American journal of medical genetics.

Facial diagnosis of mild and variant CdLS: Insights from a dysmorphologist survey

I. Krantz, V. Siu, M. Deardorff, 2010, American journal of medical genetics. Part A.

CSVS, a crowdsourcing database of the Spanish population genetic variability

Carlos Loucera, Joaquín Dopazo, Aurora Pujol, 2020, Nucleic Acids Res..

Disruption of NIPBL/Scc2 in Cornelia de Lange Syndrome provokes cohesin genome-wide redistribution with an impact in the transcriptome

M. Esteller, A. Cuadrado, B. Puisac, 2021, Nature communications.

Author Correction: The utility of Next Generation Sequencing for molecular diagnostics in Rett syndrome

N. Baena, G. Antiñolo, Gábor Csányi, 2017, Scientific Reports.

The utility of Next Generation Sequencing for molecular diagnostics in Rett syndrome

N. Baena, G. Antiñolo, S. Gökben, 2017, Scientific Reports.

Differential HMG-CoA lyase expression in human tissues provides clues about 3-hydroxy-3-methylglutaric aciduria

Fausto G. Hegardt, Antonia Ribes, B. Puisac, 2010, Journal of Inherited Metabolic Disease.

A view on clinical genetics and genomics in Spain: of challenges and opportunities

L. Pérez-Jurado, P. Lapunzina, F. Ramos, 2016, Molecular genetics & genomic medicine.

New ocular findings in two sisters with Yunis-Varón syndrome and literature review.

F. Ramos, L. C. Zepeda-Romero, J. Corona-Rivera, 2011, European journal of medical genetics.

Epigenetic modification of the FMR1 gene in fragile X patients leads to a differential response to the mGluR5 antagonist AFQ056

F. Ramos, E. Berry-Kravis, M. Torrioli, 2011 .

Quantifying the economic impact of caregiving for Duchenne muscular dystrophy (DMD) in Spain

F. Ramos, Manuel Gómez, C. García, 2020, The European Journal of Health Economics.

Things are not always what they seem: From Cornelia de Lange to KBG phenotype in a girl with genetic variants in NIPBL and ANKRD11

B. Puisac, M. Arnedo, P. Gómez-Puertas, 2021, Molecular genetics & genomic medicine.

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.

Diagnosis and management of Cornelia de Lange syndrome: first international consensus statement

Joseph P. McCleery, R. Hennekam, Z. Tümer, 2018, Nature Reviews Genetics.

The utility of Next Generation Sequencing for molecular diagnostics in Rett syndrome

N. Baena, G. Antiñolo, S. Gökben, 2017, Scientific Reports.

Risk of cognitive impairment in female premutation carriers of fragile X premutation: Analysis by means of robust segmented linear regression models

M. Tejada, F. Ramos, M. Ribate, 2009, American journal of medical genetics. Part B, Neuropsychiatric genetics : the official publication of the International Society of Psychiatric Genetics.

Late‐onset treatment in Menkes disease: is there a correlation between genotype and response to therapy?

S. Gallati, F. Ramos, J. L. Olivares, 2006, Clinical genetics.

Ten novel HMGCL mutations in 24 patients of different origin with 3‐hydroxy‐3‐methyl‐glutaric aciduria

B. Puisac, A. Ribes, Á. Pié, 2009, Human mutation.

Human variome project country nodes: Documenting genetic information within a country

L. Jorde, T. de Ravel, W. Grody, 2012, Human mutation.