List of works - Donna M. Martin

A multisite study of the clinical diagnosis of different autism spectrum disorders

scientific article

A novel TaulacZ allele reveals a requirement for Pitx2 in formation of the mammillothalamic tract

scientific article published on 6 January 2012

A novel chromosome 19p13.12 deletion in a child with multiple congenital anomalies.

scientific article published in March 2009

Adjusting head circumference for covariates in autism: clinical correlates of a highly heritable continuous trait

scientific article published on 06 June 2013

Age-related effect of serotonin transporter genotype on amygdala and prefrontal cortex function in adolescence

scientific article

Atopic disorders in CHARGE syndrome: A retrospective study and literature review

scientific article

Autosomal dominant stapes ankylosis with broad thumbs and toes, hyperopia, and skeletal anomalies is caused by heterozygous nonsense and frameshift mutations in NOG, the gene encoding noggin

scientific article

BMP4 loss-of-function mutations in developmental eye disorders including SHORT syndrome ⬇️

scientific article published on February 22, 2011

Brain glutamine by MRS in a patient with urea cycle disorder and coma

scientific article published in February 2005

C-terminals in the mouse branchiomotor nuclei originate from the magnocellular reticular formation

scientific article published on 10 June 2013

CHD7 functions in the nucleolus as a positive regulator of ribosomal RNA biogenesis

scientific article

Characterization of a stapes ankylosis family with a NOG mutation

scientific article (publication date: March 2003)

Chromatin remodeler CHD7 is critical for cochlear morphogenesis and neurosensory patterning

scientific article published in 2021

Chromodomain proteins in development: lessons from CHARGE syndrome.

scientific article

Clinical characterization of individuals with deletions of genes in holoprosencephaly pathways by aCGH refines the phenotypic spectrum of HPE.

scientific article published in April 2010

Common genetic variants, acting additively, are a major source of risk for autism

scientific article

Congenital heart defects in CHARGE: The molecular role of CHD7 and effects on cardiac phenotype and clinical outcomes

scientific article published on 13 December 2019

Delayed fusion and altered gene expression contribute to semicircular canal defects in Chd7 deficient mice

scientific article

Disruption of RAB40AL function leads to Martin--Probst syndrome, a rare X-linked multisystem neurodevelopmental human disorder

scientific article

Duplication 16p11.2 in a child with infantile seizure disorder

scientific article published in June 2010

Exclusion of PITX2 mutations as a major cause of CHARGE association

scientific article published in July 2002

Genetics of subthalamic nucleus in development and disease

scientific article

Have you heard? Viral-mediated gene therapy restores hearing.

scientific article published on July 2012

Inner ear manifestations in CHARGE: Abnormalities, treatments, animal models, and progress toward treatments in auditory and vestibular structures

scientific article

Leigh syndrome in a girl with a novel DLD mutation causing E3 deficiency

scientific article

Mature middle and inner ears express Chd7 and exhibit distinctive pathologies in a mouse model of CHARGE syndrome

scientific article

Myo15 function is distinct from Myo6, Myo7a and pirouette genes in development of cochlear stereocilia

scientific article

Nervous system development and disease: A focus on trithorax related proteins and chromatin remodelers

scientific article published on 28 November 2017

Nestin-Cre mediated deletion of Pitx2 in the mouse

scientific article published in July 2006

Nestin-lineage cells contribute to the microvasculature but not endocrine cells of the islet

scientific article published on October 2003

Neural crest contributions to the ear: Implications for congenital hearing disorders

scientific article published on 14 November 2018

New insights and advances in CHARGE syndrome: Diagnosis, etiologies, treatments, and research discoveries.

scientific article published on 24 November 2017

PITX2 is required for normal development of neurons in the mouse subthalamic nucleus and midbrain

scientific article published in March 2004

PITX2, beta-catenin and LEF-1 interact to synergistically regulate the LEF-1 promoter

scientific article

Phenotypic heterogeneity of genomic disorders and rare copy-number variants

scientific article

Pitx2 distinguishes subtypes of terminally differentiated neurons in the developing mouse neuroepithelium

scientific article published in December 2002

Pleiotropic and isoform-specific functions for Pitx2 in superior colliculus and hypothalamic neuronal development ⬇️

scientific article published on November 10, 2012

Protein kinase C phosphorylation modulates N- and C-terminal regulatory activities of the PITX2 homeodomain protein

scientific article

Regulation of spinal interneuron development by the Olig-related protein Bhlhb5 and Notch signaling

scientific article

Reproductive dysfunction and decreased GnRH neurogenesis in a mouse model of CHARGE syndrome

scientific article

Skewed X-inactivation in carriers establishes linkage in an X-linked deafness-mental retardation syndrome

scientific article published in December 2004

The ATP-dependent chromatin remodeling enzyme CHD7 regulates pro-neural gene expression and neurogenesis in the inner ear.

scientific article

The impact of serotonin transporter (5-HTTLPR) genotype on the development of resting-state functional connectivity in children and adolescents: a preliminary report

scientific article published on 18 October 2011

The impact of serotonin transporter genotype on default network connectivity in children and adolescents with autism spectrum disorders

scientific article

List of works by Donna M. Martin

A multisite study of the clinical diagnosis of different autism spectrum disorders

A novel TaulacZ allele reveals a requirement for Pitx2 in formation of the mammillothalamic tract

A novel chromosome 19p13.12 deletion in a child with multiple congenital anomalies.

Adjusting head circumference for covariates in autism: clinical correlates of a highly heritable continuous trait

Age-related effect of serotonin transporter genotype on amygdala and prefrontal cortex function in adolescence

Atopic disorders in CHARGE syndrome: A retrospective study and literature review

Autosomal dominant stapes ankylosis with broad thumbs and toes, hyperopia, and skeletal anomalies is caused by heterozygous nonsense and frameshift mutations in NOG, the gene encoding noggin

BMP4 loss-of-function mutations in developmental eye disorders including SHORT syndrome ⬇️

Brain glutamine by MRS in a patient with urea cycle disorder and coma

C-terminals in the mouse branchiomotor nuclei originate from the magnocellular reticular formation

CHD7 functions in the nucleolus as a positive regulator of ribosomal RNA biogenesis

Characterization of a stapes ankylosis family with a NOG mutation

Chromatin remodeler CHD7 is critical for cochlear morphogenesis and neurosensory patterning

Chromodomain proteins in development: lessons from CHARGE syndrome.

Clinical characterization of individuals with deletions of genes in holoprosencephaly pathways by aCGH refines the phenotypic spectrum of HPE.

Common genetic variants, acting additively, are a major source of risk for autism

Congenital heart defects in CHARGE: The molecular role of CHD7 and effects on cardiac phenotype and clinical outcomes

Delayed fusion and altered gene expression contribute to semicircular canal defects in Chd7 deficient mice

Disruption of RAB40AL function leads to Martin--Probst syndrome, a rare X-linked multisystem neurodevelopmental human disorder

Duplication 16p11.2 in a child with infantile seizure disorder

Exclusion of PITX2 mutations as a major cause of CHARGE association

Genetics of subthalamic nucleus in development and disease

Have you heard? Viral-mediated gene therapy restores hearing.

Inner ear manifestations in CHARGE: Abnormalities, treatments, animal models, and progress toward treatments in auditory and vestibular structures

Leigh syndrome in a girl with a novel DLD mutation causing E3 deficiency

Mature middle and inner ears express Chd7 and exhibit distinctive pathologies in a mouse model of CHARGE syndrome

Myo15 function is distinct from Myo6, Myo7a and pirouette genes in development of cochlear stereocilia

Nervous system development and disease: A focus on trithorax related proteins and chromatin remodelers

Nestin-Cre mediated deletion of Pitx2 in the mouse

Nestin-lineage cells contribute to the microvasculature but not endocrine cells of the islet

Neural crest contributions to the ear: Implications for congenital hearing disorders

New insights and advances in CHARGE syndrome: Diagnosis, etiologies, treatments, and research discoveries.

PITX2 is required for normal development of neurons in the mouse subthalamic nucleus and midbrain

PITX2, beta-catenin and LEF-1 interact to synergistically regulate the LEF-1 promoter

Phenotypic heterogeneity of genomic disorders and rare copy-number variants

Pitx2 distinguishes subtypes of terminally differentiated neurons in the developing mouse neuroepithelium

Pleiotropic and isoform-specific functions for Pitx2 in superior colliculus and hypothalamic neuronal development ⬇️

Protein kinase C phosphorylation modulates N- and C-terminal regulatory activities of the PITX2 homeodomain protein

Regulation of spinal interneuron development by the Olig-related protein Bhlhb5 and Notch signaling

Reproductive dysfunction and decreased GnRH neurogenesis in a mouse model of CHARGE syndrome

Skewed X-inactivation in carriers establishes linkage in an X-linked deafness-mental retardation syndrome

The ATP-dependent chromatin remodeling enzyme CHD7 regulates pro-neural gene expression and neurogenesis in the inner ear.

The impact of serotonin transporter (5-HTTLPR) genotype on the development of resting-state functional connectivity in children and adolescents: a preliminary report

The impact of serotonin transporter genotype on default network connectivity in children and adolescents with autism spectrum disorders