Author details

Full Name

Jair Tenorio

Affiliation

Institute of Medical and Molecular Genetics, Hospital University La Paz

ORCID

Career Start Year

2012

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
36286624	Keratitis-ichthyosis-deafness syndrome with lethal p.Ala88Val variant and severe hypercalcemia.	Am J Med Genet A	2023
37107578	Chromosomal Microarray in Patients with Non-Syndromic Autism Spectrum Disorders in the Clinical Routine of a Tertiary Hospital.	Genes (Basel)	2023
36192252	Digenic Inheritance in a Case of Pulmonary Arterial Hypertension Associated with Two Incidental Septal Defects and Multiple Thoracic Collaterals.	Arch Bronconeumol	2023
35241128	Biochemical algorithm to identify individuals with ALPL variants among subjects with persistent hypophosphatasaemia.	Orphanet J Rare Dis	2022
36072928	Pain and health-related quality of life in patients with hypophosphatasemia with and without ALPL gene mutations.	Front Endocrinol (Lausanne)	2022
33579810	Preimplantation genetic testing for a chr14q32 microdeletion in a family with Kagami-Ogata syndrome and Temple syndrome.	J Med Genet	2022
33477983	Radiological Findings in Multidetector Computed Tomography (MDCT) of Hereditary and Sporadic Pulmonary Veno-Occlusive Disease: Certainties and Uncertainties.	Diagnostics (Basel)	2021
33653804	The role of cardiopulmonary exercise test in identifying pulmonary veno-occlusive disease.	Eur Respir J	2021
33619648	Predictive modeling of hypophosphatasia based on a case series of adult patients with persistent hypophosphatasemia.	Osteoporos Int	2021
33733630	Prenatal ultrasound findings in Koolen-de Vries foetuses: Central nervous system anomalies are frequent markers of this syndrome.	Mol Genet Genomic Med	2021
33867313	Epigenome-wide association study of COVID-19 severity with respiratory failure.	EBioMedicine	2021
33527360	TBL1XR1 associated intellectual disability, a new missense variant with dysmorphic features plus autism: Expanding the phenotypic spectrum.	Clin Genet	2021
31549748	Heterozygous pathogenic variants in GLI1 are a common finding in isolated postaxial polydactyly A/B.	Hum Mutat	2020
32066479	Can we identify individuals with an ALPL variant in adults with persistent hypophosphatasaemia?	Orphanet J Rare Dis	2020
31972898	Further definition of the proximal 19p13.3 microdeletion/microduplication syndrome and implication of PIAS4 as the major contributor.	Clin Genet	2020
33034087	Development, behaviour and sensory processing in Marshall-Smith syndrome and Malan syndrome: phenotype comparison in two related syndromes.	J Intellect Disabil Res	2020
33058759	Germline and Mosaic Variants in PRKACA and PRKACB Cause a Multiple Congenital Malformation Syndrome.	Am J Hum Genet	2020
33053156	The role of ZFP57 and additional KRAB-zinc finger proteins in the maintenance of human imprinted methylation and multi-locus imprinting disturbances.	Nucleic Acids Res	2020
32661356	A six-attribute classification of genetic mosaicism.	Genet Med	2020
32934261	Characterization of rare ABCC8 variants identified in Spanish pulmonary arterial hypertension patients.	Sci Rep	2020
32348326	Clinical heterogeneity of Pulmonary Arterial Hypertension associated with variants in TBX4.	PLoS One	2020
30628072	MRX93 syndrome (BRWD3 gene): five new patients with novel mutations.	Clin Genet	2019
31279853	Prediction models for voriconazole pharmacokinetics based on pharmacogenetics: AN exploratory study in a Spanish population.	Int J Antimicrob Agents	2019
28892148	mTOR mutations in Smith-Kingsmore syndrome: Four additional patients and a review.	Clin Genet	2018
29962238	Characterization of parent-of-origin methylation using the Illumina Infinium MethylationEPIC array platform.	Epigenomics	2018
29897170	Further delineation of Malan syndrome.	Hum Mutat	2018
29947871	Abnormal bone turnover in individuals with low serum alkaline phosphatase.	Osteoporos Int	2018
29377879	Expert consensus document: Clinical and molecular diagnosis, screening and management of Beckwith-Wiedemann syndrome: an international consensus statement.	Nat Rev Endocrinol	2018
29146485	In-frame Variants in FLNA Proximal Rod 1 Domain Associate With a Predominant Cardiac Valvular Phenotype.	Rev Esp Cardiol (Engl Ed)	2018
29193749	Clinical Implementation of Pharmacogenetic Testing in a Hospital of the Spanish National Health System: Strategy and Experience Over 3 Years.	Clin Transl Sci	2018
28697925	Variable Expressivity of a Founder Mutation in the EIF2AK4 Gene in Hereditary Pulmonary Veno-occlusive Disease and Its Impact on Survival.	Rev Esp Cardiol (Engl Ed)	2018
27649371	An homozygous mutation in KCNK3 is associated with an aggressive form of hereditary pulmonary arterial hypertension.	Clin Genet	2017
28127875	Molecular and clinical analysis of ALPL in a cohort of patients with suspicion of Hypophosphatasia.	Am J Med Genet A	2017
28203467	Costello Syndrome and Umbilical Ligament Rhabdomyosarcoma in Two Pediatric Patients: Case Reports and Review of the Literature.	Case Rep Genet	2017
26783040	Clinical, biochemical and genetic spectrum of low alkaline phosphatase levels in adults.	Eur J Intern Med	2016
26508573	Prenatal molecular testing for Beckwith-Wiedemann and Silver-Russell syndromes: a challenge for molecular analysis and genetic counseling.	Eur J Hum Genet	2016
27480579	Clinical and molecular analyses of Beckwith-Wiedemann syndrome: Comparison between spontaneous conception and assisted reproduction techniques.	Am J Med Genet A	2016
27453251	Molecular Analysis of BMPR2, TBX4, and KCNK3 and Genotype-Phenotype Correlations in Spanish Patients and Families With Idiopathic and Hereditary Pulmonary Arterial Hypertension.	Rev Esp Cardiol (Engl Ed)	2016
26935757	[Overgrowth syndromes and development of embryonic tumours: A review of cases in the last 5 years].	An Pediatr (Barc)	2016
25512148	A founder EIF2AK4 mutation causes an aggressive form of pulmonary arterial hypertension in Iberian Gypsies.	Clin Genet	2015
25853300	PIAS4 is associated with macro/microcephaly in the novel interstitial 19p13.3 microdeletion/microduplication syndrome.	Eur J Hum Genet	2015
23663121	Recurrence of Hirschsprung disease due to maternal mosaicism of a novel RET gene mutation.	Clin Genet	2014
25238977	Simpson-Golabi-Behmel syndrome types I and II.	Orphanet J Rare Dis	2014
25196541	A new overgrowth syndrome is due to mutations in RNF125.	Hum Mutat	2014
23197429	A novel mutation in CDKN1C in sibs with Beckwith-Wiedemann syndrome and cleft palate, sensorineural hearing loss, and supernumerary flexion creases.	Am J Med Genet A	2013
22052668	Identification of a mutation causing deficient BMP1/mTLD proteolytic activity in autosomal recessive osteogenesis imperfecta.	Hum Mutat	2012
23271929	Constitutional and somatic methylation status of DMRH19 and KvDMR in Wilms tumor patients.	Genet Mol Biol	2012

1 - 48 of 48

Irene Valenzuela

Vall d'Hebron Barcelona Hospital Campus, Vall d'Hebron Hospital Universitari

Career Start Year 2013

Number of shared co-authors 15

Saumya Shekhar Jamuar

Pediatric Academic Clinical Programme, Duke-NUS Medical School

Career Start Year 2010

Number of shared co-authors 10

Francesca Clementina Radio

Ospedale Pediatrico Bambino Gesu IRCCS

Career Start Year 2009

Number of shared co-authors 9

Ahmet Okay Caglayan

Yale School of Medicine

Career Start Year 2007

Number of shared co-authors 2

Shalini N Jhangiani

Baylor College of Medicine

Career Start Year 2007

Number of shared co-authors 9

Nara Sobreira

Johns Hopkins University

Career Start Year 2006

Number of shared co-authors 10

Bryn D Webb

Icahn School of Medicine at Mount Sinai, University of Wisconsin-Madison

Career Start Year 2006

Number of shared co-authors 2

Charu Deshpande

Guy's Hospital

Career Start Year 2006

Number of shared co-authors 9

Claire Beneteau

Hopital Universitaire de Nantes

Career Start Year 2005

Number of shared co-authors 11

Jennifer E Posey

Baylor College of Medicine

Career Start Year 2004

Number of shared co-authors 9

Sofia Douzgou

Haukeland University Hospital

Career Start Year 2004

Number of shared co-authors 12

Soo-Mi Park

Cambridge University Hospital, NHS Foundation Trust

Career Start Year 2002

Number of shared co-authors 9

Tony Roscioli

Prince of Wales Hospital

Career Start Year 2000

Number of shared co-authors 21

Dragana Josifova

Guy's and St Thomas' Hospital

Career Start Year 2000

Number of shared co-authors 8

Francesca Mari

Institute de Pathologie et de Genetique ASBL

Career Start Year 2000

Number of shared co-authors 4

Vorasuk Shotelersuk

King Chulalongkorn Memorial Hospital, Chulalongkorn University

Career Start Year 1997

Number of shared co-authors 2

Vernon R Sutton

Baylor College of Medicine

Career Start Year 1997

Number of shared co-authors 5

Linlea Armstrong

University of British Columbia

Career Start Year 1997

Number of shared co-authors 5

Kym M Boycott

Children's Hospital of Eastern Ontario

Career Start Year 1996

Number of shared co-authors 21

Ariana Kariminejad

Clinical Genetics Deaprtment

Career Start Year 1996

Number of shared co-authors 4

Anne Slavotinek

Cincinnati Children's Hospital Medical Center

Career Start Year 1993

Number of shared co-authors 10

Franco Stanzial

Genetic Counseling Service - Regional Hospital of Bolzano

Career Start Year 1993

Number of shared co-authors 3

Wendy K Chung

Boston Children's Hospital, Harvard Medical School

Career Start Year 1993

Number of shared co-authors 18

Kenjiro Kosaki

Center for Medical Genetics, Keio University School of Medicine

Career Start Year 1991

Number of shared co-authors 16

Beyhan T??ys??z

Istanbul University-Cerrahpasa

Career Start Year 1989

Number of shared co-authors 5

Han G Brunner

Maastricht University Medical Centre

Career Start Year 1987

Number of shared co-authors 13

Cornelius F Boerkoel

University of British Columbia

Career Start Year 1987

Number of shared co-authors 25

Siddharth Banka

University of Manchester

Career Start Year 1986

Number of shared co-authors 15

Alessandra Renieri

University of Siena

Career Start Year 1984

Number of shared co-authors 6

Denise Horn

Institute of Medical and Human Genetics, Charite - Universitatsmedizin Berlin

Career Start Year 1981

Number of shared co-authors 12

row(s) 1 - 30 of 30

Pablo Lapunzina

Institute of Medical and Molecular Genetics

Co-authored papers 42

Juli??n Nevado

Institute of Medical and Molecular Genetics

Co-authored papers 17

Guiomar Perez de Nanclares

Bioaraba Health Research Institute, Araba University Hospital

Co-authored papers 3

Angela Del Pozo

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

Co-authored papers 2

Fowzan S Alkuraya

King Faisal Specialist Hospital and Research Center

Co-authored papers 2

Kristina Iba??ez

William Harvey Research Institute, Queen Mary University of London

Co-authored papers 2

Ghayda M Mirzaa

Seattle Children's Hospital.

Co-authored papers 2

Hannah Blau

Co-authored papers 1

Ingrid E Scheffer

Co-authored papers 1

Caterina Lucano

INSERM

Co-authored papers 1

Shahrzad Nematollahi

McGill University

Co-authored papers 1

Holli Bertram

University of Michigan ann arbor

Co-authored papers 1

Francisco Castellanos

Instituto Politecnico Nacional

Co-authored papers 1

Joel Anderton

Center for Craniofacial and Dental Genetics, University of Pittsburgh

Co-authored papers 1

Pablo Botas

Co-authored papers 1

Ferdinand Dhombres

Armand Trousseau Hospital, Sorbonne University

Co-authored papers 1

Bruno Donadille

Co-authored papers 1

Ana Rath

INSERM

Co-authored papers 1

Alexander J M Dingemans

Donders Institute for Brain, Radboud University Medical Center

Co-authored papers 1

Mahmoud Y Issa

Human Genetics and Genome Research Institute, National Research Centre

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)