List of works - Elena G. Bochukova

A Transcriptomic Signature of the Hypothalamic Response to Fasting and BDNF Deficiency in Prader-Willi Syndrome.

scientific article published in March 2018

A mutation in the thyroid hormone receptor alpha gene

scientific article published on 14 December 2011

A new highly penetrant form of obesity due to deletions on chromosome 16p11.2.

scientific article

CNV analysis in Tourette syndrome implicates large genomic rearrangements in COL8A1 and NRXN1.

scientific article

Cell mixing at a neural crest-mesoderm boundary and deficient ephrin-Eph signaling in the pathogenesis of craniosynostosis

scientific article

Clinical dividends from the molecular genetic diagnosis of craniosynostosis

scientific article published in December 2006

Clinical dividends from the molecular genetic diagnosis of craniosynostosis.

scientific article

Disruption of the homeodomain transcription factor orthopedia homeobox (Otp) is associated with obesity and anxiety

scientific article

Functional characterization of obesity-associated variants involving the α and β isoforms of human SH2B1

scientific article

Genome-wide SNP and CNV analysis identifies common and low-frequency variants associated with severe early-onset obesity

scientific journal article

Genomic studies of gene expression: regulation of the Wilson disease gene

scientific article published on June 2003

Human SH2B1 mutations are associated with maladaptive behaviors and obesity

scientific article

Human SH2B1 mutations are associated withmaladaptive behaviors and obesity

scientific article published on 2 January 2013

Human Semaphorin 3 Variants Link Melanocortin Circuit Development and Energy Balance

scientific article published on 17 January 2019

KSR2 mutations are associated with obesity, insulin resistance, and impaired cellular fuel oxidation

scientific article

Large, rare chromosomal deletions associated with severe early-onset obesity

scientific article

Mutation in human selenocysteine transfer RNA selectively disrupts selenoprotein synthesis

scientific article published on 8 February 2016

Mutations of ephrin-B1 (EFNB1), a marker of tissue boundary formation, cause craniofrontonasal syndrome

scientific article

Rare Variant Analysis of Human and Rodent Obesity Genes in Individuals with Severe Childhood Obesity

scientific article published on 29 June 2017

Rare mutations of FGFR2 causing apert syndrome: identification of the first partial gene deletion, and an Alu element insertion from a new subfamily

scientific article published in February 2009

Rare variants in single-minded 1 (SIM1) are associated with severe obesity

scientific article published on 17 June 2013

Rare variants in single-minded 1 (SIM1) areassociated with severe obesity.

scientific article published in August 2013

Refined linkage disequilibrium and physical mapping of the gene locus for X-linked dystonia-parkinsonism (DYT3).

scientific article

Scalp fibroblasts have a shared expression profile in monogenic craniosynostosis

scientific article published on 15 September 2009

Severe obesity and diabetes insipidus in a patient with PCSK1 deficiency

scientific article published on 17 April 2013

Simultaneous polychromatic flow cytometric detection of multiple forms of regulated cell death

scientific article published on 01 June 2019

Somatic mutations in ATP1A1 and CACNA1D underlie a common subtype of adrenal hypertension.

scientific article

Steroid receptor coactivator-1 modulates the function of Pomc neurons and energy homeostasis

scientific article published on 12 April 2019

List of works by Elena G. Bochukova

A Transcriptomic Signature of the Hypothalamic Response to Fasting and BDNF Deficiency in Prader-Willi Syndrome.

A mutation in the thyroid hormone receptor alpha gene

A new highly penetrant form of obesity due to deletions on chromosome 16p11.2.

CNV analysis in Tourette syndrome implicates large genomic rearrangements in COL8A1 and NRXN1.

Cell mixing at a neural crest-mesoderm boundary and deficient ephrin-Eph signaling in the pathogenesis of craniosynostosis

Clinical dividends from the molecular genetic diagnosis of craniosynostosis

Clinical dividends from the molecular genetic diagnosis of craniosynostosis.

Disruption of the homeodomain transcription factor orthopedia homeobox (Otp) is associated with obesity and anxiety

Functional characterization of obesity-associated variants involving the α and β isoforms of human SH2B1

Genome-wide SNP and CNV analysis identifies common and low-frequency variants associated with severe early-onset obesity

Genomic studies of gene expression: regulation of the Wilson disease gene

Human SH2B1 mutations are associated with maladaptive behaviors and obesity

Human SH2B1 mutations are associated withmaladaptive behaviors and obesity

Human Semaphorin 3 Variants Link Melanocortin Circuit Development and Energy Balance

KSR2 mutations are associated with obesity, insulin resistance, and impaired cellular fuel oxidation

Large, rare chromosomal deletions associated with severe early-onset obesity

Mutation in human selenocysteine transfer RNA selectively disrupts selenoprotein synthesis

Mutations of ephrin-B1 (EFNB1), a marker of tissue boundary formation, cause craniofrontonasal syndrome

Rare Variant Analysis of Human and Rodent Obesity Genes in Individuals with Severe Childhood Obesity

Rare mutations of FGFR2 causing apert syndrome: identification of the first partial gene deletion, and an Alu element insertion from a new subfamily

Rare variants in single-minded 1 (SIM1) are associated with severe obesity

Rare variants in single-minded 1 (SIM1) areassociated with severe obesity.

Refined linkage disequilibrium and physical mapping of the gene locus for X-linked dystonia-parkinsonism (DYT3).

Scalp fibroblasts have a shared expression profile in monogenic craniosynostosis

Severe obesity and diabetes insipidus in a patient with PCSK1 deficiency

Simultaneous polychromatic flow cytometric detection of multiple forms of regulated cell death

Somatic mutations in ATP1A1 and CACNA1D underlie a common subtype of adrenal hypertension.

Steroid receptor coactivator-1 modulates the function of Pomc neurons and energy homeostasis