List of works - Benjamin Darbro

A Gene Implicated in Activation of Retinoic Acid Receptor Targets is a Novel Renal Agenesis Gene in Humans

scientific article

A comprehensive evaluation of Hippo pathway silencing in sarcomas

scientific article published on 03 August 2018

A novel porcine model of ataxia telangiectasia reproduces neurological features and motor deficits of human disease.

scientific article

A porcine model of neurofibromatosis type 1 that mimics the human disease

scientific article published on 21 June 2018

Amplification of the chromosome 20q region is associated with expression of HPV-16 E7 in human airway and anogenital epithelial cells.

scientific article

An international effort towards developing standards for best practices in analysis, interpretation and reporting of clinical genome sequencing results in the CLARITY Challenge.

scientific article

Apparent Germline Mosaicism for a Novel 19p13.13 Deletion Disrupting NFIX and CACNA1A ⬇️

scientific article published on March 13, 2013

Assessment of nociception and related quality-of-life measures in a porcine model of neurofibromatosis type 1

scientific article published on 01 November 2019

Autism Linked to Increased Oncogene Mutations but Decreased Cancer Rate.

scientific article

CNV-ROC: A cost effective, computer-aided analytical performance evaluator of chromosomal microarrays

scientific article published on 13 January 2015

Candidate modifier genes for immune function in 22q11.2 deletion syndrome

scientific article published on 12 December 2019

Changes in gene expression in small bowel neuroendocrine tumors associated with progression to metastases

scientific article

Co-regulation of p16INK4A and migratory genes in culture conditions that lead to premature senescence in human keratinocytes.

scientific article

Correction: Recessive coding and regulatory mutations in FBLIM1 underlie the pathogenesis of chronic recurrent multifocal osteomyelitis (CRMO).

scientific article published on 7 July 2017

Development and translational imaging of a TP53 porcine tumorigenesis model

scientific article

Development of Secondary Acute Myeloid Leukemia in a Pediatric Patient Concurrently Receiving Primary Therapy for Ewing Sarcoma.

scientific article published on 14 August 2017

Eating disorder predisposition is associated with ESRRA and HDAC4 mutations

scientific article

Esophageal cancer in a family with hamartomatous tumors and germline PTEN frameshift and SMAD7 missense mutations

scientific article

Evaluation of multiple putative risk alleles within the 15q13.3 region for genetic generalized epilepsy.

scientific article

G-protein coupled receptor expression patterns delineate medulloblastoma subgroups

scientific article

Genome-wide copy number variation analysis of a Branchio-oto-renal syndrome cohort identifies a recombination hotspot and implicates new candidate genes ⬇️

scientific article published on July 13, 2013

Heritability of glutathione and related metabolites in stored red blood cells

scientific article

Identification of Isthmin 1 as a Novel Clefting and Craniofacial Patterning Gene in Humans.

scientific article published on 21 November 2017

Immunohistochemical Markers for Prospective Studies in Neurofibromatosis-1 Porcine Models.

scientific article published on August 2017

Leukemic Transdifferentiation of Follicular Lymphoma Into an Acute Histiocytic Leukemia in a 52-Year-Old Caucasian Woman

scientific article published on 01 May 2016

Mutations in extracellular matrix genes NID1 and LAMC1 cause autosomal dominant Dandy-Walker malformation and occipital cephaloceles

scientific article published on 28 May 2013

Mutations of the Sonic Hedgehog Pathway Underlie Hypothalamic Hamartoma with Gelastic Epilepsy

scientific article published on 20 July 2016

PRICKLE1 interaction with SYNAPSIN I reveals a role in autism spectrum disorders

scientific article

Promoting improved utilization of laboratory testing through changes in an electronic medical record: experience at an academic medical center

scientific article

RABL6A inhibits tumor-suppressive PP2A/AKT signaling to drive pancreatic neuroendocrine tumor growth

scientific article published on 04 March 2019

RABL6A is an essential driver of MPNSTs that negatively regulates the RB1 pathway and sensitizes tumor cells to CDK4/6 inhibitors

scientific article published on 21 February 2020

RABL6A promotes G1-S phase progression and pancreatic neuroendocrine tumor cell proliferation in an Rb1-dependent manner

scientific article

RABL6A, a novel RAB-like protein, controls centrosome amplification and chromosome instability in primary fibroblasts.

scientific article

Radiomic biomarkers informative of cancerous transformation in neurofibromatosis-1 plexiform tumors

scientific article published on 27 June 2018

Recessive coding and regulatory mutations in FBLIM1 underlie the pathogenesis of chronic recurrent multifocal osteomyelitis (CRMO)

scientific article

Screening of Living Kidney Donors for Genetic Diseases Using a Comprehensive Genetic Testing Strategy.

scientific article

Seizures are regulated by ubiquitin-specific peptidase 9 X-linked (USP9X), a de-ubiquitinase

scientific article (publication date: March 2015)

TBK1 and flanking genes in human retina.

scientific article published on 20 February 2013

TBK1 gene duplication and normal-tension glaucoma.

scientific article

The Eating-Disorder Associated HDAC4A778T Mutation Alters Feeding Behaviors in Female Mice.

scientific article

The heritability of hemolysis in stored human red blood cells

scientific article published on 2 February 2015

The heritability of metabolite concentrations in stored human red blood cells

scientific article

Uniparental Isodisomy of Chromosome 1 Unmasking an Autosomal Recessive 3-Beta Hydroxysteroid Dehydrogenase Type II-Related Congenital Adrenal Hyperplasia.

scientific article published on 31 October 2016

Uniparental disomy unveils a novel recessive mutation in POMT2

scientific article published on 10 April 2018

List of works by Benjamin Darbro

A Gene Implicated in Activation of Retinoic Acid Receptor Targets is a Novel Renal Agenesis Gene in Humans

A comprehensive evaluation of Hippo pathway silencing in sarcomas

A novel porcine model of ataxia telangiectasia reproduces neurological features and motor deficits of human disease.

A porcine model of neurofibromatosis type 1 that mimics the human disease

Amplification of the chromosome 20q region is associated with expression of HPV-16 E7 in human airway and anogenital epithelial cells.

An international effort towards developing standards for best practices in analysis, interpretation and reporting of clinical genome sequencing results in the CLARITY Challenge.

Apparent Germline Mosaicism for a Novel 19p13.13 Deletion Disrupting NFIX and CACNA1A ⬇️

Assessment of nociception and related quality-of-life measures in a porcine model of neurofibromatosis type 1

Autism Linked to Increased Oncogene Mutations but Decreased Cancer Rate.

CNV-ROC: A cost effective, computer-aided analytical performance evaluator of chromosomal microarrays

Candidate modifier genes for immune function in 22q11.2 deletion syndrome

Changes in gene expression in small bowel neuroendocrine tumors associated with progression to metastases

Co-regulation of p16INK4A and migratory genes in culture conditions that lead to premature senescence in human keratinocytes.

Correction: Recessive coding and regulatory mutations in FBLIM1 underlie the pathogenesis of chronic recurrent multifocal osteomyelitis (CRMO).

Development and translational imaging of a TP53 porcine tumorigenesis model

Development of Secondary Acute Myeloid Leukemia in a Pediatric Patient Concurrently Receiving Primary Therapy for Ewing Sarcoma.

Eating disorder predisposition is associated with ESRRA and HDAC4 mutations

Esophageal cancer in a family with hamartomatous tumors and germline PTEN frameshift and SMAD7 missense mutations

Evaluation of multiple putative risk alleles within the 15q13.3 region for genetic generalized epilepsy.

G-protein coupled receptor expression patterns delineate medulloblastoma subgroups

Genome-wide copy number variation analysis of a Branchio-oto-renal syndrome cohort identifies a recombination hotspot and implicates new candidate genes ⬇️

Heritability of glutathione and related metabolites in stored red blood cells

Identification of Isthmin 1 as a Novel Clefting and Craniofacial Patterning Gene in Humans.

Immunohistochemical Markers for Prospective Studies in Neurofibromatosis-1 Porcine Models.

Leukemic Transdifferentiation of Follicular Lymphoma Into an Acute Histiocytic Leukemia in a 52-Year-Old Caucasian Woman

Mutations in extracellular matrix genes NID1 and LAMC1 cause autosomal dominant Dandy-Walker malformation and occipital cephaloceles

Mutations of the Sonic Hedgehog Pathway Underlie Hypothalamic Hamartoma with Gelastic Epilepsy

PRICKLE1 interaction with SYNAPSIN I reveals a role in autism spectrum disorders

Promoting improved utilization of laboratory testing through changes in an electronic medical record: experience at an academic medical center

RABL6A inhibits tumor-suppressive PP2A/AKT signaling to drive pancreatic neuroendocrine tumor growth

RABL6A is an essential driver of MPNSTs that negatively regulates the RB1 pathway and sensitizes tumor cells to CDK4/6 inhibitors

RABL6A promotes G1-S phase progression and pancreatic neuroendocrine tumor cell proliferation in an Rb1-dependent manner

RABL6A, a novel RAB-like protein, controls centrosome amplification and chromosome instability in primary fibroblasts.

Radiomic biomarkers informative of cancerous transformation in neurofibromatosis-1 plexiform tumors

Recessive coding and regulatory mutations in FBLIM1 underlie the pathogenesis of chronic recurrent multifocal osteomyelitis (CRMO)

Screening of Living Kidney Donors for Genetic Diseases Using a Comprehensive Genetic Testing Strategy.

Seizures are regulated by ubiquitin-specific peptidase 9 X-linked (USP9X), a de-ubiquitinase

TBK1 and flanking genes in human retina.

TBK1 gene duplication and normal-tension glaucoma.

The Eating-Disorder Associated HDAC4A778T Mutation Alters Feeding Behaviors in Female Mice.

The heritability of hemolysis in stored human red blood cells

The heritability of metabolite concentrations in stored human red blood cells

Uniparental Isodisomy of Chromosome 1 Unmasking an Autosomal Recessive 3-Beta Hydroxysteroid Dehydrogenase Type II-Related Congenital Adrenal Hyperplasia.

Uniparental disomy unveils a novel recessive mutation in POMT2