List of works - Julian Martinez-agosto

37th Annual David W. Smith Workshop on Malformations and Morphogenesis: Abstracts of the 2016 Annual Meeting.

scientific article published on 24 May 2017

A Hedgehog- and Antennapedia-dependent niche maintains Drosophila haematopoietic precursors.

scientific article published on March 2007

Autistic and psychiatric findings associated with the 3q29 microdeletion syndrome: case report and review

scientific article published on 01 October 2010

B-acute lymphoblastic leukemia and cystinuria in a patient with duplication 22q11.21 detected by chromosomal microarray analysis.

scientific article

Conserved family of glycerol kinase loci in Drosophila melanogaster

scientific article

Danon disease with typical early-onset cardiomyopathy in a male: focus on a novel LAMP-2 mutation

scientific article

De novo loss-of-function variants in STAG2 are associated with developmental delay, microcephaly, and congenital anomalies.

scientific article published on 11 March 2017

Effects of mTOR Inhibitors on Components of the Salvador-Warts-Hippo Pathway

scientific article published on 19 October 2012

Expanding the phenotype of mutations in DICER1: mosaic missense mutations in the RNase IIIb domain of DICER1 cause GLOW syndrome.

scientific article published on 27 March 2014

Extracellular matrix-modulated Heartless signaling in Drosophila blood progenitors regulates their differentiation via a Ras/ETS/FOG pathway and target of rapamycin function.

scientific article

Functional and structural analyses of novel Smith-Kingsmore Syndrome-Associated MTOR variants reveal potential new mechanisms and predictors of pathogenicity

scientific article published on 01 July 2021

Genetic modifiers of abnormal organelle biogenesis in a Drosophila model of BLOC-1 deficiency.

scientific article

Hemifacial microsomia in cat-eye syndrome: 22q11.1-q11.21 as candidate loci for facial symmetry

scientific article published on 21 June 2013

Interaction between differentiating cell- and niche-derived signals in hematopoietic progenitor maintenance.

scientific article

Is polycystic kidney disease associated with malignancy in children?

scientific article published on 14 June 2019

Macrocephaly as a Clinical Indicator of Genetic Subtypes in Autism ⬇️

scientific article published on January 29, 2013

Missed diagnoses: Clinically relevant lessons learned through medical mysteries solved by the Undiagnosed Diseases Network

scientific article published on 30 July 2020

Multifaceted roles of PTEN and TSC orchestrate growth and differentiation of Drosophila blood progenitors ⬇️

scientific article published on September 5, 2012

Mutations in STAG2 cause an X-linked cohesinopathy associated with undergrowth, developmental delay, and dysmorphia: Expanding the phenotype in males.

scientific article published on 16 November 2018

Mutations in the PCNA-binding domain of CDKN1C cause IMAGe syndrome

scientific article

Mutations in the sonic hedgehog pathway cause macrocephaly-associated conditions due to crosstalk to the PI3K/AKT/mTOR pathway

scientific article published on 22 October 2019

Nomenclature and definition in asymmetric regional body overgrowth.

scientific article published on 5 May 2017

Novel NUDT2 variant causes intellectual disability and polyneuropathy

scientific article published on 15 October 2020

Pathogenic paternally inherited NLGN4X deletion in a female with autism spectrum disorder: Clinical, cytogenetic, and molecular characterization

scientific article published on 24 December 2020

Phenotype delineation of ZNF462 related syndrome

scientific article published on 30 July 2019

Phenotypic progression of skeletal anomalies in CLOVES syndrome

scientific article published on 24 May 2012

Stem cell niche dynamics: from homeostasis to carcinogenesis.

scientific article published on 9 February 2012

Support for calcium channel gene defects in autism spectrum disorders

scientific article published on 15 December 2012

The Feasibility and Outcomes of Genetic Testing for Autism and Neurodevelopmental Disorders on an Inpatient Child and Adolescent Psychiatry Service

scientific article published on 14 July 2020

Truncating mutations in APP cause a distinct neurological phenotype.

scientific article

List of works by Julian Martinez-agosto

37th Annual David W. Smith Workshop on Malformations and Morphogenesis: Abstracts of the 2016 Annual Meeting.

A Hedgehog- and Antennapedia-dependent niche maintains Drosophila haematopoietic precursors.

Autistic and psychiatric findings associated with the 3q29 microdeletion syndrome: case report and review

B-acute lymphoblastic leukemia and cystinuria in a patient with duplication 22q11.21 detected by chromosomal microarray analysis.

Conserved family of glycerol kinase loci in Drosophila melanogaster

Danon disease with typical early-onset cardiomyopathy in a male: focus on a novel LAMP-2 mutation

De novo loss-of-function variants in STAG2 are associated with developmental delay, microcephaly, and congenital anomalies.

Effects of mTOR Inhibitors on Components of the Salvador-Warts-Hippo Pathway

Expanding the phenotype of mutations in DICER1: mosaic missense mutations in the RNase IIIb domain of DICER1 cause GLOW syndrome.

Extracellular matrix-modulated Heartless signaling in Drosophila blood progenitors regulates their differentiation via a Ras/ETS/FOG pathway and target of rapamycin function.

Functional and structural analyses of novel Smith-Kingsmore Syndrome-Associated MTOR variants reveal potential new mechanisms and predictors of pathogenicity

Genetic modifiers of abnormal organelle biogenesis in a Drosophila model of BLOC-1 deficiency.

Hemifacial microsomia in cat-eye syndrome: 22q11.1-q11.21 as candidate loci for facial symmetry

Interaction between differentiating cell- and niche-derived signals in hematopoietic progenitor maintenance.

Is polycystic kidney disease associated with malignancy in children?

Macrocephaly as a Clinical Indicator of Genetic Subtypes in Autism ⬇️

Missed diagnoses: Clinically relevant lessons learned through medical mysteries solved by the Undiagnosed Diseases Network

Multifaceted roles of PTEN and TSC orchestrate growth and differentiation of Drosophila blood progenitors ⬇️

Mutations in STAG2 cause an X-linked cohesinopathy associated with undergrowth, developmental delay, and dysmorphia: Expanding the phenotype in males.

Mutations in the PCNA-binding domain of CDKN1C cause IMAGe syndrome

Mutations in the sonic hedgehog pathway cause macrocephaly-associated conditions due to crosstalk to the PI3K/AKT/mTOR pathway

Nomenclature and definition in asymmetric regional body overgrowth.

Novel NUDT2 variant causes intellectual disability and polyneuropathy

Pathogenic paternally inherited NLGN4X deletion in a female with autism spectrum disorder: Clinical, cytogenetic, and molecular characterization

Phenotype delineation of ZNF462 related syndrome

Phenotypic progression of skeletal anomalies in CLOVES syndrome

Stem cell niche dynamics: from homeostasis to carcinogenesis.

Support for calcium channel gene defects in autism spectrum disorders

The Feasibility and Outcomes of Genetic Testing for Autism and Neurodevelopmental Disorders on an Inpatient Child and Adolescent Psychiatry Service

Truncating mutations in APP cause a distinct neurological phenotype.