List of works - James T Bennett

A novel rasopathy caused by recurrent de novo missense mutations in PPP1CB closely resembles Noonan syndrome with loose anagen hair.

scientific article published on 5 June 2016

Actionable, pathogenic incidental findings in 1,000 participants' exomes

scientific article published on 19 September 2013

An exceptional family with three consecutive generations affected by Wilson disease.

scientific article published on 07 February 2013

CHRNB1-associated congenital myasthenia syndrome: Expanding the clinical spectrum

scientific article published on 09 December 2020

Cell-free DNA as a diagnostic analyte for molecular diagnosis of vascular malformations

scientific article published on 04 September 2020

Characterization of a severe case of PIK3CA-related overgrowth at autopsy by droplet digital polymerase chain reaction and report of PIK3CA sequencing in 22 patients

scientific article published on 31 July 2018

Clinical and genetic characterization of AP4B1-associated SPG47.

scientific article published on 28 November 2017

Clinical molecular diagnosis of Wilson disease.

scientific article published on August 2011

EGF-CFC proteins are essential coreceptors for the TGF-beta signals Vg1 and GDF1.

scientific article

Genetic disruption of the oncogenic HMGA2-PLAG1-IGF2 pathway causes fetal growth restriction.

scientific article

Immune dysfunction in MGAT2-CDG: A clinical report and review of the literature

scientific article published on 12 October 2020

Lymphatic and other vascular malformative/overgrowth disorders are caused by somatic mutations in PIK3CA

scientific article

Maternal nodal and zebrafish embryogenesis

scientific article published in Nature

Minimal mosaicism, maximal phenotype: Discordance between clinical and molecular findings in two patients with tuberous sclerosis

scientific article published on 27 September 2018

Mixer/Bon and FoxH1/Sur have overlapping and divergent roles in Nodal signaling and mesendoderm induction ⬇️

scientific article published on October 1, 2003

Molecular genetic testing of patients with monogenic diabetes and hyperinsulinism

scientific article published on 20 December 2014

Mosaic Activating Mutations in FGFR1 Cause Encephalocraniocutaneous Lipomatosis.

scientific article published on March 2016

Nodal signaling activates differentiation genes during zebrafish gastrulation

scientific article published on 12 January 2007

Whole exome sequencing identifies de novo mutations in GATA6 associated with congenital diaphragmatic hernia

scientific article (publication date: March 2014)

List of works by James T Bennett

A novel rasopathy caused by recurrent de novo missense mutations in PPP1CB closely resembles Noonan syndrome with loose anagen hair.

Actionable, pathogenic incidental findings in 1,000 participants' exomes

An exceptional family with three consecutive generations affected by Wilson disease.

CHRNB1-associated congenital myasthenia syndrome: Expanding the clinical spectrum

Cell-free DNA as a diagnostic analyte for molecular diagnosis of vascular malformations

Characterization of a severe case of PIK3CA-related overgrowth at autopsy by droplet digital polymerase chain reaction and report of PIK3CA sequencing in 22 patients

Clinical and genetic characterization of AP4B1-associated SPG47.

Clinical molecular diagnosis of Wilson disease.

EGF-CFC proteins are essential coreceptors for the TGF-beta signals Vg1 and GDF1.

Genetic disruption of the oncogenic HMGA2-PLAG1-IGF2 pathway causes fetal growth restriction.

Immune dysfunction in MGAT2-CDG: A clinical report and review of the literature

Lymphatic and other vascular malformative/overgrowth disorders are caused by somatic mutations in PIK3CA

Maternal nodal and zebrafish embryogenesis

Minimal mosaicism, maximal phenotype: Discordance between clinical and molecular findings in two patients with tuberous sclerosis

Mixer/Bon and FoxH1/Sur have overlapping and divergent roles in Nodal signaling and mesendoderm induction ⬇️

Molecular genetic testing of patients with monogenic diabetes and hyperinsulinism

Mosaic Activating Mutations in FGFR1 Cause Encephalocraniocutaneous Lipomatosis.

Nodal signaling activates differentiation genes during zebrafish gastrulation

Whole exome sequencing identifies de novo mutations in GATA6 associated with congenital diaphragmatic hernia