List of works - David J Coman

A novel familial 9q31.2q32 microdeletion: Muscle cramping, somnolence, fatigue, sensorineural hearing loss, pubertal delay, and short stature

article

A novel splice site mutation in EYA4 causes DFNA10 hearing loss.

scientific article

Allan-Herndon-Dudley syndrome with unusual profound sensorineural hearing loss.

scientific article

An overview of combined D-2- and L-2-hydroxyglutaric aciduria: functional analysis of CIC variants.

scientific article

Carbamyl phosphate synthase deficiency: diagnosed during pregnancy in a 41-year-old.

scientific article published in July 2006

Congenital Glaucoma: a Novel Ocular Manifestation of Hajdu-Cheney Syndrome

scientific article published on 21 October 2018

Congenital disorder of glycosylation type Ia in a 6-year-old girl with a mild intellectual phenotype: two novel PMM2 mutations.

scientific article published in January 2005

Deletions that reveal recessive genes

scientific article published on 29 August 2007

Diagnostic dilemma's: the congenital disorders of glycosylation are clinical chameleons

scientific article published on 01 January 2008

Enzyme replacement therapy and extended newborn screening for mucopolysaccharidoses: opinions of treating physicians.

scientific article published on 22 June 2011

Enzyme replacement therapy for mucopolysaccharidoses: opinions of patients and families

scientific article published on 20 February 2008

Enzyme replacement therapy for mucopolysaccharidosis VI from 8 weeks of age--a sibling control study

scientific article published on 23 November 2009

Extended newborn screening: an update for the general paediatrician.

scientific article published on 21 October 2011

Fumarase deficiency in dichorionic diamniotic twins.

scientific article published on 4 November 2013

Fumarate hydratase is a critical metabolic regulator of hematopoietic stem cell functions.

scientific article published on 15 February 2017

GNAO1-related movement disorder with life-threatening exacerbations: movement phenomenology and response to DBS.

scientific article

Glucose transporter 1 deficiency syndrome and hemiplegic migraines as a dominant presenting clinical feature.

scientific article published in December 2014

IgG N-glycans as potential biomarkers for determining galactose tolerance in Classical Galactosaemia ⬇️

scientific article published on November 7, 2011

Language skills in a child with Leber hereditary optic neuropathy following intrathecal chemotherapy for acute lymphoblastic leukemia

scientific article published on 01 November 2010

Long-term follow-up of patients with idiopathic infantile hypercalcaemia

scientific article published on 24 August 2006

Molecular basis of EEC (ectrodactyly, ectodermal dysplasia, clefting) syndrome: five new mutations in the DNA-binding domain of the TP63 gene and genotype-phenotype correlation.

scientific article published on 9 November 2009

Mutations in SH3PXD2B cause Borrone dermato-cardio-skeletal syndrome

scientific article published on 9 October 2013

Mutations in the nuclear localization sequence of the Aristaless related homeobox; sequestration of mutant ARX with IPO13 disrupts normal subcellular distribution of the transcription factor and retards cell division

scientific article

Ocular Manifestations of a Novel Proximal 19p13.3 Microdeletion.

scientific article

Pediatric acute liver failure: etiology, outcomes, and the role of serial pediatric end-stage liver disease scores.

scientific article published on 16 April 2013

Pre-linguistic communication skill development in an infant with a diagnosis of galactosaemia.

scientific article published on 2 January 2013

Primary skeletal dysplasia as a major manifesting feature in an infant with congenital disorder of glycosylation type Ia

scientific article published on 01 February 2008

Renal transplantation in a 14-year-old girl with vitamin B12-responsive cblA-type methylmalonic acidaemia

scientific article

Seizures, ataxia, developmental delay and the general paediatrician: glucose transporter 1 deficiency syndrome.

scientific article

Severe hypernatraemic dehydration in a breast-fed neonate

scientific article published on 01 August 2005

Spondylocostal dysostosis in a pregnancy complicated by confined placental mosaicism for tetrasomy 9p

scientific article published on 01 August 2008

Spondyloenchondrodysplasia Due to Mutations in ACP5: A Comprehensive Survey

scientific article

Squalene Synthase Deficiency: Clinical, Biochemical, and Molecular Characterization of a Defect in Cholesterol Biosynthesis

scientific article published on 14 June 2018

The skeletal manifestations of the congenital disorders of glycosylation.

scientific article published on 06 May 2008

Three Mendelian disorders (chronic granulomatous disease, retinitis pigmentosa, ornithine transcarbamylase deficiency) in a young woman with an X chromosome deletion, del(X)(p11.4p21.1)

scientific article published on 27 November 2009

Transient neonatal zinc deficiency in exclusively breastfed preterm infants

scientific article published on 16 November 2017

Tread carefully: A functional variant in the human NADPH oxidase 4 (NOX4) is not disease causing

scientific article published on 2 February 2018

Trisomy 16 mosaicism at chorionic villus sampling and amniocentesis with a normal physical and intellectual outcome

scientific article published on 21 July 2010

Two siblings with 46,XY DSD, congenital adrenal hypoplasia, aniridia, craniofacial, and skeletal abnormalities and intrauterine growth retardation: a new syndrome?

scientific article published on 01 September 2007

Unrelated cord blood transplantation in a girl with Hoyeraal-Hreidarsson syndrome

scientific article published on 16 June 2008

List of works by David J Coman

A novel familial 9q31.2q32 microdeletion: Muscle cramping, somnolence, fatigue, sensorineural hearing loss, pubertal delay, and short stature

A novel splice site mutation in EYA4 causes DFNA10 hearing loss.

Allan-Herndon-Dudley syndrome with unusual profound sensorineural hearing loss.

An overview of combined D-2- and L-2-hydroxyglutaric aciduria: functional analysis of CIC variants.

Carbamyl phosphate synthase deficiency: diagnosed during pregnancy in a 41-year-old.

Congenital Glaucoma: a Novel Ocular Manifestation of Hajdu-Cheney Syndrome

Congenital disorder of glycosylation type Ia in a 6-year-old girl with a mild intellectual phenotype: two novel PMM2 mutations.

Deletions that reveal recessive genes

Diagnostic dilemma's: the congenital disorders of glycosylation are clinical chameleons

Enzyme replacement therapy and extended newborn screening for mucopolysaccharidoses: opinions of treating physicians.

Enzyme replacement therapy for mucopolysaccharidoses: opinions of patients and families

Enzyme replacement therapy for mucopolysaccharidosis VI from 8 weeks of age--a sibling control study

Extended newborn screening: an update for the general paediatrician.

Fumarase deficiency in dichorionic diamniotic twins.

Fumarate hydratase is a critical metabolic regulator of hematopoietic stem cell functions.

GNAO1-related movement disorder with life-threatening exacerbations: movement phenomenology and response to DBS.

Glucose transporter 1 deficiency syndrome and hemiplegic migraines as a dominant presenting clinical feature.

IgG N-glycans as potential biomarkers for determining galactose tolerance in Classical Galactosaemia ⬇️

Language skills in a child with Leber hereditary optic neuropathy following intrathecal chemotherapy for acute lymphoblastic leukemia

Long-term follow-up of patients with idiopathic infantile hypercalcaemia

Molecular basis of EEC (ectrodactyly, ectodermal dysplasia, clefting) syndrome: five new mutations in the DNA-binding domain of the TP63 gene and genotype-phenotype correlation.

Mutations in SH3PXD2B cause Borrone dermato-cardio-skeletal syndrome

Mutations in the nuclear localization sequence of the Aristaless related homeobox; sequestration of mutant ARX with IPO13 disrupts normal subcellular distribution of the transcription factor and retards cell division

Ocular Manifestations of a Novel Proximal 19p13.3 Microdeletion.

Pediatric acute liver failure: etiology, outcomes, and the role of serial pediatric end-stage liver disease scores.

Pre-linguistic communication skill development in an infant with a diagnosis of galactosaemia.

Primary skeletal dysplasia as a major manifesting feature in an infant with congenital disorder of glycosylation type Ia

Renal transplantation in a 14-year-old girl with vitamin B12-responsive cblA-type methylmalonic acidaemia

Seizures, ataxia, developmental delay and the general paediatrician: glucose transporter 1 deficiency syndrome.

Severe hypernatraemic dehydration in a breast-fed neonate

Spondylocostal dysostosis in a pregnancy complicated by confined placental mosaicism for tetrasomy 9p

Spondyloenchondrodysplasia Due to Mutations in ACP5: A Comprehensive Survey

Squalene Synthase Deficiency: Clinical, Biochemical, and Molecular Characterization of a Defect in Cholesterol Biosynthesis

The skeletal manifestations of the congenital disorders of glycosylation.

Three Mendelian disorders (chronic granulomatous disease, retinitis pigmentosa, ornithine transcarbamylase deficiency) in a young woman with an X chromosome deletion, del(X)(p11.4p21.1)

Transient neonatal zinc deficiency in exclusively breastfed preterm infants

Tread carefully: A functional variant in the human NADPH oxidase 4 (NOX4) is not disease causing

Trisomy 16 mosaicism at chorionic villus sampling and amniocentesis with a normal physical and intellectual outcome

Two siblings with 46,XY DSD, congenital adrenal hypoplasia, aniridia, craniofacial, and skeletal abnormalities and intrauterine growth retardation: a new syndrome?

Unrelated cord blood transplantation in a girl with Hoyeraal-Hreidarsson syndrome