Author details

Full Name

Harry Pachajoa

Affiliation

Universidad Icesi

ORCID

Career Start Year

2009

Papers

108

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
36260083	Damaging variants in FOXI3 cause microtia and craniofacial microsomia.	Genet Med	2023
37662493	Schimke immuno-osseous dysplasia. A case report in Colombia.	Mol Genet Metab Rep	2023
38013309	Novel mutation in RPGRIP1L gene causing Joubert syndrome: A case report.	Medicine (Baltimore)	2023
37505171	Frequency of polymorphisms in the CYP2C9, VKORC1, and CYP4F2 genes related to the metabolism of Warfarin in healthy donors from Cali, Colombia.	Medicine (Baltimore)	2023
37415604	Case report: Novel frameshift mutation in <i>LAMA2</i> gene causing congenital muscular dystrophy type 1A.	Front Genet	2023
37106005	Population-specific facial traits and diagnosis accuracy of genetic and rare diseases in an admixed Colombian population.	Sci Rep	2023
37372360	Clinical Heterogeneity and Different Phenotypes in Patients with <i>SETD2</i> Variants: 18 New Patients and Review of the Literature.	Genes (Basel)	2023
37169567	First report of Wilson disease and Bruton agammaglobulinemia in the same patient caused by new mutations in <i>ATP7B</i> and <i>BTK</i> genes.	Allergol Immunopathol (Madr)	2023
37476413	Case report: A novel SON mutation in a Colombian patient with ZTTK syndrome.	Front Genet	2023
37096204	The Unique Spectrum of <i>MUTYH</i> Germline Mutations in Colombian Patients with Extracolonic Carcinomas.	Appl Clin Genet	2023
36685875	Case report: Craniofrontonasal syndrome caused by a novel variant in the <i>EFNB1</i> gene in a Colombian woman.	Front Genet	2023
36317063	Neurofibromatosis Type 1 and Hypospadias in a Male 46, XY with a Mutation in the <i>NF1</i> Gene and a Mutation in <i>NR5A1</i>.	Pharmgenomics Pers Med	2022
35645695	Hematological Findings in Lysosomal Storage Disorders: A Perspective from the Medical Laboratory.	EJIFCC	2022
35671071	Hearing Loss in Patients With Morquio Syndrome: Protocol for a Scoping Review.	JMIR Res Protoc	2022
35821784	A Novel <i>POGZ</i> Variant in a Patient with Intellectual Disability and Obesity.	Appl Clin Genet	2022
35789399	Demographic and clinical characterization of pediatric group patients with inborn errors of the immune system in a Colombian tertiary hospital.	Allergol Immunopathol (Madr)	2022
36467431	A Patient with Bone Fragility, Multiple Fractures, Osteosarcoma, and the Variant c.143A>G in the <i>IFITM5</i> Gene: A Case Report.	Orthop Res Rev	2022
36670605	Systemic Bevacizumab for Recurrent Respiratory Papillomatosis: A Scoping Review from 2009 to 2022.	Children (Basel)	2022
36192675	2q37 deletion syndrome in a Colombian patient with macrocephaly: a case report.	BMC Pediatr	2022
36345475	Mowat-Wilson Syndrome as a Differential Diagnosis in Patients with Congenital Heart Defects and Dysmorphic Facies.	Pharmgenomics Pers Med	2022
32936762	Methylation Status of <i>GLP2R, LEP</i> and <i>IRS2</i> in Small for Gestational Age Children with and without Catch-up Growth	J Clin Res Pediatr Endocrinol	2021
33815457	A Possible Association Between Zika Virus Infection and CDK5RAP2 Mutation.	Front Genet	2021
33747343	Skin manifestations in pediatric patients with primary immunodeficiency diseases (PIDs) in a tertiary care hospital in Colombia.	World Allergy Organ J	2021
33746522	New PAX2 Mutation Associated with Polycystic Kidney Disease: A Case Report.	Clin Med Insights Pediatr	2021
35319586	[New variant in the ALG13 gene responsible for the congenital disorder of Is-type glycosylation in a male patient].	Andes Pediatr	2021
34675602	A Novel Intronic <i>KMT2D</i> Variant as a Cause of Kabuki Syndrome: A Case Report.	Appl Clin Genet	2021
34727472	Parental Reports of Intervention Services and Prevalence of Teasing in a Multinational Craniofacial Microsomia Pediatric Study.	J Craniofac Surg	2021
34542925	Molecular characterization of mucopolysaccharidosis type IVA patients in the Andean region of Colombia.	Am J Med Genet C Semin Med Genet	2021
34106167	[Sucecesfull bone marrow transplantation in a case of familial hemophagocytic lymphohistiocytosis type 3].	Andes Pediatr	2021
34103968	The Oral Health of Patients with DiGeorge Syndrome (22q11) Microdeletion: A Case Report.	Appl Clin Genet	2021
34344887	Haploinsufficiency of SF3B2 causes craniofacial microsomia.	Nat Commun	2021
33982859	Genetic and congenital disorders in pre-Hispanic Moche pottery.	Am J Med Genet C Semin Med Genet	2021
33953602	Evaluation of <i>CYP2C19</i> Gene Polymorphisms in Patients with Acid Peptic Disorders Treated with Esomeprazole.	Pharmgenomics Pers Med	2021
33998134	The portrayal of dwarfism without skeletal dysplasia in art: Proportionate short stature due to growth hormone deficiency and other disorders.	Am J Med Genet C Semin Med Genet	2021
32973342	NAA10 p.(N101K) disrupts N-terminal acetyltransferase complex NatA and is associated with developmental delay and hemihypertrophy.	Eur J Hum Genet	2021
32280258	A Novel <i>APOC2</i> Mutation in a Colombian Patient with Recurrent Hypertriglyceridemic Pancreatitis.	Appl Clin Genet	2020
31915049	Clear cell renal carcinoma synchronous with dedifferentiated liposarcoma: a case report and review of the literature.	J Med Case Rep	2020
32104046	PHEX Gene Mutation in a Patient with X-Linked Hypophosphatemic Rickets in a Developing Country.	Appl Clin Genet	2020
33300679	Clinical and molecular analysis of 26 individuals with Noonan syndrome in a reference institution in Colombia.	Am J Med Genet C Semin Med Genet	2020
33294227	Corrigendum to "Prevalence of APOL1 Risk Variants in Afro-Descendant Patients with Chronic Kidney Disease in a Latin American Country".	Int J Nephrol	2020
32943904	Hutchinson-Gilford Progeria Syndrome: Clinical and Molecular Characterization.	Appl Clin Genet	2020
32856789	Ophthalmic genetics in South America.	Am J Med Genet C Semin Med Genet	2020
32880086	Hematopoietic Stem Cell Transplantation in Children with Inborn Errors of Immunity: a Multi-center Experience in Colombia.	J Clin Immunol	2020
32848441	Prenatal Diagnosis of Pfeiffer Syndrome Patient with FGFR2 C.940-1G>C Variant: A Case Report.	Appl Clin Genet	2020
32904596	Laparoscopic Hysterectomy and Bilateral Salpingectomy in a Patient with Microduplication Syndrome (20p13p12.1) and a Bicornuate Uterus: An Unreported Association.	Int J Womens Health	2020
32871052	MYT1 role in the microtia-craniofacial microsomia spectrum.	Mol Genet Genomic Med	2020
27939114	Chromosome 17p13.3 microdeletion syndrome with unaltered PAFAH1B1 gene.	Neurologia (Engl Ed)	2019
31929905	Prevalence of APOL1 Risk Variants in Afro-Descendant Patients with Chronic Kidney Disease in a Latin American Country.	Int J Nephrol	2019
31440073	First report case with negative genetic study (array CGH, exome sequencing) in patients with vertical transmission of Zika virus infection and associated brain abnormalities.	Appl Clin Genet	2019

1 - 50 of 108

Irene Valenzuela

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

Career Start Year 2013

Number of shared co-authors 13

Shagun Aggarwal

Nizam's Institute of Medical Sciences

Career Start Year 2010

Number of shared co-authors 9

Hatip Aydin

Zeynep Kamil Maternity and Children's Training and Research Hospital

Career Start Year 2010

Number of shared co-authors 1

Saumya Shekhar Jamuar

Pediatric Academic Clinical Programme, Duke-NUS Medical School

Career Start Year 2010

Number of shared co-authors 11

Rasim O Rosti

University of Virginia

Career Start Year 2008

Number of shared co-authors 1

Marzia Pollazzon

Azienda USL-IRCCS di Reggio Emilia

Career Start Year 2008

Number of shared co-authors 10

Ahmet Okay Caglayan

Yale School of Medicine

Career Start Year 2007

Number of shared co-authors 0

Claire Beneteau

Hopital Universitaire de Nantes

Career Start Year 2005

Number of shared co-authors 9

Sofia Douzgou

Haukeland University Hospital

Career Start Year 2004

Number of shared co-authors 6

Dragana Josifova

Guy's and St Thomas' Hospital

Career Start Year 2000

Number of shared co-authors 4

Vernon R Sutton

Baylor College of Medicine

Career Start Year 1997

Number of shared co-authors 1

Linlea Armstrong

University of British Columbia

Career Start Year 1997

Number of shared co-authors 3

Ariana Kariminejad

Clinical Genetics Deaprtment

Career Start Year 1996

Number of shared co-authors 4

H??lya Kayserili

Istanbul University

Career Start Year 1996

Number of shared co-authors 4

Luitgard Graul-Neumann

Charite Universitaetsmedizin Berlin

Career Start Year 1996

Number of shared co-authors 5

Anne Slavotinek

Cincinnati Children's Hospital Medical Center

Career Start Year 1993

Number of shared co-authors 5

Shehla Mohammed

Guy's and St Thomas' NHS Foundation Trust

Career Start Year 1992

Number of shared co-authors 11

Kenjiro Kosaki

Center for Medical Genetics, Keio University School of Medicine

Career Start Year 1991

Number of shared co-authors 16

Felicity Collins

Department of Medical Genomics/Clinical Genetics, Royal Prince Alfred Hospital

Career Start Year 1990

Number of shared co-authors 2

Sally Ann Lynch

University College Dublin

Career Start Year 1989

Number of shared co-authors 9

Beyhan T??ys??z

Istanbul University-Cerrahpasa

Career Start Year 1989

Number of shared co-authors 2

Jill Clayton-Smith

Institute of Human Development, University of Manchester

Career Start Year 1988

Number of shared co-authors 7

Lihadh Al-Gazali

College of Medicine and Health Sciences, United Arab Emirates University

Career Start Year 1988

Number of shared co-authors 4

Jane A Hurst

Great Ormond Street Hospital NHS Foundation Trust

Career Start Year 1987

Number of shared co-authors 8

Carol L Clericuzio

University of New Mexico Health Sciences Center

Career Start Year 1986

Number of shared co-authors 1

Howard M Saal

Cincinnati Children's Hospital Medical Center

Career Start Year 1985

Number of shared co-authors 1

Fiona Stewart

Belfast City Hospital

Career Start Year 1984

Number of shared co-authors 2

Denise Horn

Institute of Medical and Human Genetics, Charite - Universitatsmedizin Berlin

Career Start Year 1981

Number of shared co-authors 7

Elaine H Zackai

Children's Hospital of Philadelphia

Career Start Year 1972

Number of shared co-authors 6

Gabriela M Repetto

Clinica Alemana Universidad del Desarrollo

Career Start Year 1964

Number of shared co-authors 1

row(s) 1 - 30 of 30

Pablo Lapunzina

Institute of Medical and Molecular Genetics

Co-authored papers 5

Ignacio Zarante

Institute of Human Genetics, Pontificia Universidad Javeriana

Co-authored papers 5

Juli??n Nevado

Institute of Medical and Molecular Genetics

Co-authored papers 5

Andrew E Timms

Center for Integrative Brain Research, Seattle Children's Research Institute

Co-authored papers 2

Hannah Blau

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

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)