V. López‐González

发表

TCF12 haploinsufficiency causes autosomal dominant Kallmann syndrome and reveals network-level interactions between causal loci.

K. Lage, N. Katsanis, W. Crowley, 2020, Human molecular genetics.

Rapp-Hodgkin syndrome and SHFM1 patients: delineating the p63-Dlx5/Dlx6 pathway.

E. Guillén-Navarro, M. Moya-Quiles, V. López‐González, 2012, Gene.

X-linked intellectual disability type Nascimento is a clinically distinct, probably underdiagnosed entity

Alison M. Male, P. Bauer, D. Wieczorek, 2013, Orphanet Journal of Rare Diseases.

Two mutations in IFITM5 causing distinct forms of osteogenesis imperfecta

P. Lapunzina, E. Guillén-Navarro, A. Utkus, 2014, American journal of medical genetics. Part A.

Identification of the fourth duplication of upstream IHH regulatory elements, in a family with craniosynostosis Philadelphia type, helps to define the phenotypic characterization of these regulatory elements

E. Guillén-Navarro, E. Barroso, K. Heath, 2015, American journal of medical genetics. Part A.

The ARID1B spectrum in 143 patients: from nonsyndromic intellectual disability to Coffin–Siris syndrome

Golder N Wilson, A. V. Vulto-van Silfhout, R. Pfundt, 2018, Genetics in Medicine.

[Assessment of psychomotor development of Spanish children up to 3 years of age conceived by assisted reproductive techniques: Prospective matched cohort study].

E. Guillén-Navarro, V. López‐González, M. Ballesta-Martínez, 2019, Anales de pediatria.

Mutations in PLOD2 cause autosomal‐recessive connective tissue disorders within the Bruck syndrome—Osteogenesis imperfecta phenotypic spectrum

P. Lapunzina, K. Amr, J. Caparrós-Martín, 2012, Human mutation.

Expanding the mutation spectrum in 182 Spanish probands with craniosynostosis: identification and characterization of novel TCF12 variants

P. Lapunzina, E. Guillén-Navarro, E. Barroso, 2014, European Journal of Human Genetics.

Correction: The ARID1B spectrum in 143 patients: from nonsyndromic intellectual disability to Coffin–Siris syndrome

A. V. Vulto-van Silfhout, R. Pfundt, B. D. de Vries, 2019, Genetics in Medicine.

High penetrance of acute intermittent porphyria in a Spanish founder mutation population and CYP2D6 genotype as a susceptibility factor

E. Guillén-Navarro, M. Barreda-Sánchez, V. López‐González, 2019, Orphanet Journal of Rare Diseases.

Health impact of acute intermittent porphyria in latent and non-recurrent attacks patients

E. Guillén-Navarro, M. E. Pérez-Tomás, M. Barreda-Sánchez, 2021, Orphanet Journal of Rare Diseases.

Assessment of psychomotor development of Spanish children up to 3 years of age conceived by assisted reproductive techniques: Prospective matched cohort study

E. Guillén-Navarro, V. López‐González, M. Ballesta-Martínez, 2020 .

Autosomal dominant oculoauriculovertebral spectrum and 14q23.1 microduplication

B. Rodríguez-Santiago, E. Guillén-Navarro, S. García-Miñaúr, 2013, American journal of medical genetics. Part A.

Array CGH detection of a novel cryptic deletion at 3q13 in a complex chromosome rearrangement.

E. Guillén-Navarro, V. López‐González, M. Ballesta-Martínez, 2014, Genomics.

EDA, EDAR, EDARADD and WNT10A allelic variants in patients with ectodermal derivative impairment in the Spanish population

A. Torrelo, E. Guillén-Navarro, L. Noguera‐Morel, 2019, Orphanet Journal of Rare Diseases.

Hemodynamic and genetic analysis in children with idiopathic, heritable, and congenital heart disease associated pulmonary arterial hypertension

C. Fischer, A. Hager, M. Gorenflo, 2013, Respiratory Research.

Genotype and phenotype in patients with Noonan syndrome and a RIT1 mutation

D. Mitter, C. Evers, S. Nampoothiri, 2016, Genetics in Medicine.

Exome sequencing unravels unexpected differential diagnoses in individuals with the tentative diagnosis of Coffin–Siris and Nicolaides–Baraitser syndromes

T. Wieland, T. Strom, D. Wieczorek, 2015, Human Genetics.

Genetic landscape of 6089 inherited retinal dystrophies affected cases in Spain and their therapeutic and extended epidemiological implications

H. Hakonarson, B. Gener, D. Sharon, 2021, Scientific reports.

SETBP1 variants outside the degron disrupt DNA-binding and transcription independent of protein abundance to cause a heterogeneous neurodevelopmental disorder

I. Scheffer, B. D. de Vries, S. Fisher, 2022, medRxiv.

First Spanish case of syndromic intellectual disability with dysmorphic facies, seizures, and distal limb anomalies caused by biallelic mutations in the OTUD6B gene

E. Guillén-Navarro, V. López‐González, M. J. Martínez, 2020 .

A comprehensive molecular study on Coffin-Siris and Nicolaides-Baraitser syndromes identifies a broad molecular and clinical spectrum converging on altered chromatin remodeling.

K. Devriendt, J. Vermeesch, B. Gener, 2013, Human molecular genetics.

Expanding the phenotype of CRYAA nucleotide variants to a complex presentation of anterior segment dysgenesis

M. Cortón, F. Konovalov, C. Ayuso, 2020, Orphanet Journal of Rare Diseases.

Heterozygous pathogenic variants in GLI1 are a common finding in isolated postaxial polydactyly A/B

E. Aller, H. Kayserili, P. Lapunzina, 2020, Human mutation.

Risk of mayor and minor birth defects in children conceived by assisted reproductive technology (IVF/ICSI): A prospective controlled cohort study

V. López‐González, M. Ballesta-Martínez, M. J. Sánchez Soler, 2021, Anales de Pediatría (English Edition).

Exome sequencing unravels unexpected differential diagnoses in individuals with the tentative diagnosis of Coffin–Siris and Nicolaides–Baraitser syndromes

T. Wieland, T. Strom, D. Wieczorek, 2015, Human Genetics.

PHIP-associated Chung-Jansen syndrome: Report of 23 new individuals

C. Depienne, A. Afenjar, D. Wieczorek, 2023, Frontiers in Cell and Developmental Biology.

Mandibulofacial Dysostosis with Microcephaly: Mutation and Database Update

E. Zackai, J. Allanson, F. Quintero-Rivera, 2016, Human mutation.

Clinical and mutation data in 12 patients with the clinical diagnosis of Nager syndrome

D. Wieczorek, H. Kayserili, D. Goudie, 2013, Human Genetics.

The ARID1B spectrum in 143 patients: from nonsyndromic intellectual disability to Coffin–Siris syndrome

Patricia H. Wheeler, A. V. Vulto-van Silfhout, R. Pfundt, 2018, Genetics in Medicine.

Helical mutations in type I collagen that affect the processing of the amino-propeptide result in an Osteogenesis Imperfecta/Ehlers-Danlos Syndrome overlap syndrome

G. Mortier, S. Nampoothiri, A. De Paepe, 2013, Orphanet Journal of Rare Diseases.

Pre‐ and postnatal findings in a patient with a novel rec(8)dup(8q)inv(8)(p23.2q22.3) associated with san luis valley syndrome

E. Guillén-Navarro, V. López‐González, Ascensión Vera-Carbonell, 2013, 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.

Clinical and mutation data in 12 patients with the clinical diagnosis of Nager syndrome

D. Wieczorek, H. Kayserili, D. Goudie, 2013, Human Genetics.

Clinical comparison of 10q26 overlapping deletions: Delineating the critical region for urogenital anomalies

E. Guillén-Navarro, V. López‐González, M. Ballesta-Martínez, 2015, American journal of medical genetics. Part A.

The neurodevelopmental and facial phenotype in individuals with a TRIP12 variant

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

A new seipin-associated neurodegenerative syndrome

Á. Ruibal, P. Aguiar, B. González-Méndez, 2013, Journal of Medical Genetics.

CERT1 mutations perturb human development by disrupting sphingolipid homeostasis

B. V. van Bon, R. Pfundt, L. Armengol, 2023, The Journal of clinical investigation.

Validation of clinical exome sequencing in the diagnostic procedure of patients with intellectual disability in clinical practice

E. Guillén-Navarro, M. Barreda-Sánchez, V. López‐González, 2023, Orphanet Journal of Rare Diseases.