Author details

Full Name

Jaime Cruz-Rojo

Affiliation

12 de Octubre Hospital

ORCID

Career Start Year

1989

Papers

H Index

Expertise

CM4AI Collaborator

PMID	Paper Title	Journal Title	Published Year
37953324	The Human Phenotype Ontology in 2024: phenotypes around the world.	Nucleic Acids Res	2024
37568403	Genotypic Findings in Noonan and Non-Noonan RASopathies and Patient Eligibility for Growth Hormone Treatment.	J Clin Med	2023
35750670	Outcomes and patterns of treatment in chronic myeloid leukemia, a global perspective based on a real-world data global network.	Blood Cancer J	2022
35612049	Making EHRs Trustable: A Quality Analysis of EHR-Derived Datasets for COVID-19 Research.	Stud Health Technol Inform	2022
34296368	First female with Allan-Herndon-Dudley syndrome and partial deletion of X-inactivation center.	Neurogenetics	2021
37575653	A Novel Pathogenic Variant in the <i>MN1</i> Gene in a Patient Presenting with Rhombencephalosynapsis and Craniofacial Anomalies, Expanding MN1 C-terminal Truncation Syndrome.	J Pediatr Genet	2021
33548541	Obtaining EHR-derived datasets for COVID-19 research within a short time: a flexible methodology based on Detailed Clinical Models.	J Biomed Inform	2021
34516402	High prevalence of variants in skeletal dysplasia associated genes in individuals with short stature and minor skeletal anomalies.	Eur J Endocrinol	2021
34447369	Primary Immune Regulatory Disorders With an Autoimmune Lymphoproliferative Syndrome-Like Phenotype: Immunologic Evaluation, Early Diagnosis and Management.	Front Immunol	2021
29605169	Burnout and posttraumatic stress in paediatric critical care personnel: Prediction from resilience and coping styles.	Aust Crit Care	2019
30782446	[Characteristics of synovial fluid in patients with juvenile idiopathic arthritis].	An Pediatr (Engl Ed)	2019
30664591	Are Pediatric Critical Personnel Satisfied With Their Lives? Prediction of Satisfaction With Life From Burnout, Posttraumatic Stress, and Posttraumatic Growth, and Comparison With Noncritical Pediatric Staff.	Pediatr Crit Care Med	2019
30329211	A rare male patient with Fontaine progeroid syndrome caused by p.R217H de novo mutation in SLC25A24.	Am J Med Genet A	2018
30193137	Mutations in TOP3A Cause a Bloom Syndrome-like Disorder.	Am J Hum Genet	2018
30057030	Mutations in TOP3A Cause a Bloom Syndrome-like Disorder.	Am J Hum Genet	2018
27929306	Posttraumatic growth in pediatric intensive care personnel: Dependence on resilience and coping strategies.	Psychol Trauma	2017
28211986	The p.R56* mutation in PTHLH causes variable brachydactyly type E.	Am J Med Genet A	2017
28724572	A New Case of Congenital Malabsorptive Diarrhea and Diabetes Secondary to Mutant <i>Neurogenin-3</i>.	Pediatrics	2017
27362849	Sevoflurane Therapy for Severe Refractory Bronchospasm in Children.	Pediatr Crit Care Med	2016
26635255	Polycystic Thyroid Disease in Pediatric Patients: An Uncommon Cause of Hypothyroidism.	J Ultrasound Med	2016
25271085	Expanding the mutation spectrum in 182 Spanish probands with craniosynostosis: identification and characterization of novel TCF12 variants.	Eur J Hum Genet	2015
26662873	[Phenotypic variability of the 1q21.1 microdeletion syndrome in members of the same family: relevance of detection of neuropsychiatric disorders for diagnosis of genetic syndromes].	Rev Neurol	2015
26009620	Tumor-induced rickets in a child with a central giant cell granuloma: a case report.	Pediatrics	2015
24696446	GATA4 mutations are a cause of neonatal and childhood-onset diabetes.	Diabetes	2014
24909817	A Web platform for the interactive visualization and analysis of the 3D fractal dimension of MRI data.	J Biomed Inform	2014
22525095	Array-based characterization of an interstitial de-novo deletion of chromosome 4q in a patient with a neuronal migration defect and hypocalcemia plus a literature review.	Clin Dysmorphol	2012
22743745	Use of combined transmucosal fentanyl, nitrous oxide, and hematoma block for fracture reduction in a pediatric emergency department.	Pediatr Emerg Care	2012
21712857	Identification of a Gypsy SHOX mutation (p.A170P) in LÃ©ri-Weill dyschondrosteosis and Langer mesomelic dysplasia.	Eur J Hum Genet	2011
20347408	[Hemolytic uremic syndrome: long term renal injury].	An Pediatr (Barc)	2010
20949536	Clinical characterization of a girl with trisomy 20q13.2qter and monosomy 13q33.1qter: Delineating phenotype-genotype correlations.	Am J Med Genet A	2010
20579777	[Rapid influenza diagnostic tests for detection of novel influenza A (H1N1) virus in children].	Enferm Infecc Microbiol Clin	2010
20211005	Does opening a milk bank in a neonatal unit change infant feeding practices? A before and after study.	Int Breastfeed J	2010
17401577	Moebius-Poland syndrome and hypogonadotropic hypogonadism.	Eur J Pediatr	2008
16804428	Influenza-related hospitalizations in children younger than three years of age.	Pediatr Infect Dis J	2006
15871836	[Group A beta-hemolytic Streptococcus as a cause of perianal dermatitis, fissures and balanoposthitis].	An Pediatr (Barc)	2005
12699242	Precipitating/aggravating factors of porphyria cutanea tarda in Spanish patients.	Cell Mol Biol (Noisy-le-grand)	2002
2495960	Penicillin-resistant beta-lactamase producing Neisseria meningitidis in Spain.	Eur J Clin Microbiol Infect Dis	1989
2500572	[Sepsis caused by Neisseria meningitidis resistant to penicillin and beta lactamase producer].	Med Clin (Barc)	1989

1 - 38 of 38

Rizwan Ishtiaq

St. Francis Hospital

Career Start Year 2016

Number of shared co-authors 5

Saumya Shekhar Jamuar

Pediatric Academic Clinical Programme, Duke-NUS Medical School

Career Start Year 2010

Number of shared co-authors 10

Mashael Alqahtani

Department of Basic and Clinical Oral Sciences, Umm Al-Qura University

Career Start Year 2009

Number of shared co-authors 1

Tanja Kovacevic

University Hospital of Split

Career Start Year 2005

Number of shared co-authors 0

Inci Yildirim

Emory University School of Medicine

Career Start Year 2004

Number of shared co-authors 0

Rachel Barry

St. James's Hospital

Career Start Year 2004

Number of shared co-authors 0

Megha Shah

University of Toronto, University Avenue

Career Start Year 2003

Number of shared co-authors 1

Susana Hernando

University Hospital Fundacion Alcorcon

Career Start Year 2001

Number of shared co-authors 0

Anwar Ul Haq

Khyber Girls Medical College

Career Start Year 2000

Number of shared co-authors 0

Victoria J Wright

Imperial College London

Career Start Year 2000

Number of shared co-authors 0

Jonathan A Bernstein

Stanford University

Career Start Year 2000

Number of shared co-authors 4

Noemi Cabello

Centro Sandoval and Hospital Universitario Clinico de San Carlos

Career Start Year 1999

Number of shared co-authors 0

Federico Martin??n-Torres

Hospital Clinico Universitario de Santiago de Compostela

Career Start Year 1998

Number of shared co-authors 1

David M Aronoff

Indiana University School of Medicine

Career Start Year 1997

Number of shared co-authors 0

Dat Tran

Oregon Health Authority

Career Start Year 1995

Number of shared co-authors 0

Bilal Ahmed

University of Utah Health Sciences Center

Career Start Year 1993

Number of shared co-authors 0

Varsha P Gharpure

Advocate Children's Hospital

Career Start Year 1992

Number of shared co-authors 0

Thomas Gr??newald

Hospital Chemnitz

Career Start Year 1991

Number of shared co-authors 1

Emanuela Avola

Oasi Research Institute-IRCCS

Career Start Year 1990

Number of shared co-authors 2

Iftikhar Ahmed

International Islamic University

Career Start Year 1990

Number of shared co-authors 0

Preeti Jaggi

Emory University School of Medicine

Career Start Year 1989

Number of shared co-authors 0

Jos?? M Fern??ndez

Hospital Universitario y Politecnico la Fe

Career Start Year 1988

Number of shared co-authors 4

Burkhard Simma

Academic Teaching Hospital

Career Start Year 1988

Number of shared co-authors 0

Manuel Posada

Institute of Rare Diseases Research, Instituto de Salud Carlos III

Career Start Year 1986

Number of shared co-authors 5

Domenica Taruscio

National Center for Rare Diseases, Istituto Superiore di Sanita

Career Start Year 1984

Number of shared co-authors 11

Manuel Posada de la Paz

Institute of Rare Diseases Research (IIER), Instituto de Salud Carlos III (ISCIII)

Career Start Year 1982

Number of shared co-authors 6

Emilia Mia Sordillo

Icahn School of Medicine at Mount Sinai

Career Start Year 1981

Number of shared co-authors 0

Stanford T Shulman

Northwestern University Feinberg School of Medicine

Career Start Year 1970

Number of shared co-authors 0

Francis Leclerc

University Lille, Lille University Hospital Center

Career Start Year 1966

Number of shared co-authors 0

Gabriela M Repetto

Clinica Alemana Universidad del Desarrollo

Career Start Year 1964

Number of shared co-authors 2

row(s) 1 - 30 of 30

Guiomar Perez de Nanclares

Bioaraba Health Research Institute, Araba University Hospital

Co-authored papers 5

Pablo Serrano

Hospital Universitario 12 de Octubre

Co-authored papers 3

David A D Parry

Co-authored papers 2

Andrew P Jackson

Institute of Genetics and Cancer, University of Edinburgh

Co-authored papers 2

Robert W Taylor

Newcastle upon Tyne Hospitals NHS Foundation Trust

Co-authored papers 2

Juli??n Nevado

Institute of Medical and Molecular Genetics

Co-authored papers 2

Mehul T Dattani

Great Ormond Street Hospital for Children NHS Foundation Trust

Co-authored papers 2

Pablo Lapunzina

Institute of Medical and Molecular Genetics

Co-authored papers 2

Fowzan S Alkuraya

King Faisal Specialist Hospital and Research Center

Co-authored papers 2

Megan T Cho

Co-authored papers 2

Hywel J Williams

Cardiff University

Co-authored papers 2

Yasushi Okazaki

Intractable Disease Research Center, Graduate School of Medicine, Juntendo University

Co-authored papers 2

Clare V Logan

Co-authored papers 2

Gr??inne S Gorman

Newcastle upon Tyne Hospitals NHS Foundation Trust

Co-authored papers 2

Hannah Blau

Co-authored papers 1

Angela Del Pozo

Instituto de Genetica Medica y Molecular (INGEMM), Hospital Universitario La Paz

Co-authored papers 1

Alexander J M Dingemans

Donders Institute for Brain, Radboud University Medical Center

Co-authored papers 1

No??mi Dahan-Oliel

McGill University, Canada Shriners Hospital for Children-Canada

Co-authored papers 1

Jon R Davids

Co-authored papers 1

Matthias Griese

Co-authored papers 1

Melissa A Haendel

American Medical Informatics Association, Oregon Health and Science University, Oregon State University, University of Colorado Anschutz Medical Campus, University of North Carolina at Chapel Hill, University of Wisconsin-Madison

Co-authored papers 1

Paul Avillach

Harvard Medical School

Co-authored papers 1

Katie Scott

Dalhousie University

Co-authored papers 1

Monica C Munoz-Torres

University of Colorado Anschutz Medical Campus

Co-authored papers 1

Kaan Boztug

St. Anna Children's Cancer Research Institute (CCRI)