Karen E Heath (K E Heath)

ResearcherID ORCID

Publication Activity (10 Years)

Years Active: 2017-2024
Publications (10 Years): 16

Top Venues

European journal of endocrinology

American journal of medical genetics. Part A

Clinical genetics

Journal of medical genetics

Fundacion Investigacion Biomedica Del Hospital Universitario La Paz

This page only lists publications with an associated author ORCID identifier.

Affiliation History

Fundacion Investigacion Biomedica Del Hospital Universitario La Paz May 01 2008

Spain

Investigator :: INGEMM

Publications

Francisca Díaz-González, Lucía Sentchordi-Montané, Elsa Lucas Castro, Silvia Modamio-Høybjør, Karen E Heath
Variants in both the N- or C-terminal domains of IHH lead to defective secretion causing short stature and skeletal defects. European journal of endocrinology (2024)
Francisca Díaz-González, Lucia Sentchordi-Montané, Elsa Lucas-Castro, Silvia Modamio-HØybjØr, Karen E Heath
Variants in both the N- or C-terminal domains of IHH lead to defective secretion causing short stature and skeletal defects. European journal of endocrinology 191 (1) (2024)
Rosario Ramos Mejía, Karen E Heath, Silvia Modamio-HØybjØr, Victoria Huckstadt, Calcagni Julián, Rodrigo G Remondino, Virginia Fano
Unexpected findings in cervical spine in spondylometaphyseal dysplasia Sutcliff type FN1-related. American journal of medical genetics. Part A (2023)
Özlem Akgün Doğan, Francisca Díaz-González, Alexander Augusto de Lima Jorge, Neslihan Onenli-Mungan, Nathalia Liberatoscioli Menezes Andrade, Laurana de Polli Cellin, Serdar Ceylaner, Maria Barcellos Rosa Modkovski, Yasemin Alanay, Karen E Heath
Two new patients with acromesomelic dysplasia, PRKG2 type-identification and characterization of the first missense variant. European journal of human genetics : EJHG (2023)
Francisca Díaz-González, Manuel Parrón-Pajares, Elsa Lucas-Castro, Silvia Modamio-HØybjØr, Lucia Sentchordi-Montané, Verónica Seidel, Pablo Prieto, Guillermo Tarraso-Urios, Marta Codina-Sola, Anna Maria Cueto-González, Mary J Ballesta-Martínez, Fernando Santos-Simarro, Sergio B Sousa, Karen E Heath
Evolution of clinical and radiological presentations of spondyloepimetaphyseal dysplasia, RPL13-related: Description of 11 further cases. Clinical genetics (2023)
Rosario Ramos Mejía, Mariana Del Pino, M Aza-Carmona, Silvina Abbate, María Gabriela Obregon, Karen E Heath, Virginia Fano
Novel FLNB Variants in Seven Argentinian Cases with Spondylocarpotarsal Synostosis Syndrome. Journal of pediatric genetics 13 (3) (2022)
Rosario Ramos Mejía, Mariana Del Pino, M Aza-Carmona, Silvina Abbate, María Gabriela Obregon, Karen E Heath, Virginia Fano
Novel FLNB Variants in Seven Argentinian Cases with Spondylocarpotarsal Synostosis Syndrome. Journal of pediatric genetics 13 (3) (2022)
Alistair T Pagnamenta, Francisca Díaz-González, Benito Banos-Pinero, Matteo P Ferla, Mehran B Toosi, Alistair D Calder, Ehsan G Karimiani, Mohammad Doosti, Andrew Wainwright, Paul Wordsworth, Kathryn Bailey, Katarina Ejeskär, Tracy Lester, Reza Maroofian, Karen E Heath, Homa Tajsharghi, Deborah Shears, Jenny C Taylor, null null
Variable skeletal phenotypes associated with biallelic variants in PRKG2. Journal of medical genetics (2021)
Lucia Sentchordi-Montané, Sara Benito-Sanz, Miriam Aza-Carmona, Francisca Díaz-González, Silvia Modamio-HØybjØr, Carolina de la Torre, Julián Nevado, Pablo Ruiz-Ocaña, Carolina Bezanilla-López, Pablo Prieto, Pilar Bahíllo-Curieses, Atilano Carcavilla, Inés Mulero-Collantes, Ana C Barreda-Bonis, Jaime Cruz-Rojo, Joaquín Ramírez-Fernández, José Antonio Bermúdez de la Vega, Andre M Travessa, Jesús González de Buitrago Amigo, Ángela Del Pozo, Elena Vallespin, Mario Solís, Carlos Goetz, Ángel Campos-Barros, Fernando Santos-Simarro, Isabel González-Casado, Purificación Ros-Pérez, Manuel Parrón-Pajares, Karen E Heath
High prevalence of variants in skeletal dysplasia associated genes in individuals with short stature and minor skeletal anomalies. European journal of endocrinology 185 (5) (2021)
Francisca Díaz-González, Manuel Parrón-Pajares, Ana Barcia-Ramirez, Karen E Heath
First case of compound heterozygous BHLHA9 variants in mesoaxial synostotic syndactyly with phalangeal reduction. American journal of medical genetics. Part A 182 (4) (2020)
Sofía M Siccha, Anna María Cueto, Manuel Parrón-Pajares, Gaspar González-Morán, Marta Pacio-Miguez, Ángela Del Pozo, Mario Solís, Carmen Rodriguez-Jimenez, Silvia Caino, Virginia Fano, Karen E Heath, Sixto García-Miñaúr, Maria Palomares-Bralo, Fernando Santos-Simarro
Delineation of the clinical and radiological features of Stuve-Wiedemann syndrome childhood survivors, four new cases and review of the literature. American journal of medical genetics. Part A 185 (3) (2020)
Francisca Díaz-González, Saruchi Wadhwa, Maria Rodriguez-Zabala, Somesh Kumar, Miriam Aza-Carmona, Lucia Sentchordi-Montané, Milagros Alonso, Istaq Ahmad, Sana Zahra, Deepak Kumar, Neetu Kushwah, Uzma Shamim, Haseena Sait, Seema Kapoor, Belen Roldán, Gen Nishimura, Amaka C Offiah, Mohammed Faruq, Karen E Heath
Biallelic cGMP-dependent type II protein kinase gene (PRKG2) variants cause a novel acromesomelic dysplasia. Journal of medical genetics (2020)
Lucia Sentchordi-Montané, Francisca Díaz-González, Elena V Cátedra-Vallés, Karen E Heath
Identification of the third FGF9 variant in a girl with multiple synostosis-comparison of the genotype:phenotype of FGF9 variants in humans and mice. Clinical genetics 99 (2) (2020)
Lucia Sentchordi-Montané, Miriam Aza-Carmona, Sara Benito-Sanz, Ana C Barreda-Bonis, Consuelo Sánchez-Garre, Pablo Prieto-Matos, Pablo Ruiz-Ocaña, Alfonso Lechuga-Sancho, Atilano Carcavilla-Urquí, Inés Mulero-Collantes, Gabriel A Martos-Moreno, Angela Del Pozo, Elena Vallespín, Amaka Offiah, Manuel Parrón-Pajares, Isabel Dinis, Sergio B Sousa, Purificación Ros-Pérez, Isabel González-Casado, Karen E Heath
Heterozygous aggrecan variants are associated with short stature and brachydactyly: Description of 16 probands and a review of the literature. Clinical endocrinology 88 (6) (2018)
J Barraza-García, C I Rivera-Pedroza, A Hisado-Oliva, A Belinchón-Martínez, L Sentchordi-Montané, E L Duncan, G R Clark, A Del Pozo, K Ibáñez-Garikano, A Offiah, P Prieto-Matos, V Cormier-Daire, Karen E Heath
Broadening the phenotypic spectrum of POP1-skeletal dysplasias: identification of POP1 mutations in a mild and severe skeletal dysplasia. Clinical genetics 92 (1) (2017)
Maria Rodriguez-Zabala, Miriam Aza-Carmona, Carlos I Rivera-Pedroza, Alberta Belinchón, Isabel Guerrero-Zapata, Jimena Barraza-García, Elena Vallespin, Min Lu, Angela Del Pozo, Marc J Glucksman, Fernando Santos-Simarro, Karen E Heath
FGF9 mutation causes craniosynostosis along with multiple synostoses. Human mutation 38 (11) (2017)

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Publication Activity (10 Years)

Top Topics

Top Venues

Karen E Heath (K E Heath)