D. Coman

发表

A novel splice site mutation in EYA4 causes DFNA10 hearing loss

M. Bahlo, R. Gardner, H. Dahl, 2007, American journal of medical genetics. Part A.

Delineating the Smith‐Kingsmore syndrome phenotype: Investigation of 16 patients with the MTOR c.5395G > A p.(Glu1799Lys) missense variant

Diana S. Johnson, S. Lynch, P. Turnpenny, 2021, American journal of medical genetics. Part A.

De Novo Mutations in SLC1A2 and CACNA1A Are Important Causes of Epileptic Encephalopathies.

Michael R. Johnson, G. Carvill, I. Scheffer, 2016, American journal of human genetics.

Impact of Impaired Maternal Vitamin A Status on Infant Eyes

G. Gole, D. Coman, 2014 .

Xq26.3 Duplication in a Boy With Motor Delay and Low Muscle Tone Refines the X-Linked Acrogigantism Genetic Locus.

J. Lupski, C. Stratakis, C. Carvalho, 2018, Journal of the Endocrine Society.

Expanding the genetic landscape of Rett syndrome to include lysine acetyltransferase 6A (KAT6A).

J. Christodoulou, B. Kamien, D. Phelan, 2020, Journal of genetics and genomics = Yi chuan xue bao.

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

A. De Grassi, J. Abdenur, P. Lennertz, 2017, Journal of Inherited Metabolic Disease.

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

J. Gécz, T. Kleefstra, G. Mancini, 2010, PathoGenetics.

Severe childhood speech disorder: gene discovery highlights transcriptional dysregulation

Victoria E. Jackson, I. Scheffer, J. Gécz, 2020, Neurology.

T. Coyne, P. Silburn, R. Selway, 2017, Journal of Neurology, Neurosurgery, and Psychiatry.

International consensus guidelines for phosphoglucomutase 1 deficiency (PGM1‐CDG): Diagnosis, follow‐up, and management

H. Freeze, F. Tort, Christina Lam, 2020, Journal of inherited metabolic disease.

Spondyloenchondrodysplasia Due to Mutations in ACP5: A Comprehensive Survey

C. Wouters, Y. Crow, L. Adès, 2016, Journal of Clinical Immunology.

Extended newborn screening: An update for the general paediatrician

K. Bhattacharya, D. Coman, 2012, Journal of paediatrics and child health.

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

D. O’Carroll, L. N. van de Lagemaat, C. So, 2017, The Journal of experimental medicine.

Keeping an eye on congenital disorders of O‐glycosylation: A systematic literature review

G. Gole, E. Morava, J. Jaeken, 2018, Journal of inherited metabolic disease.

Keeping an eye on congenital disorders of O-glycosylation: a systematic literature review

G. Gole, E. Morava, J. Jaeken, 2017, Journal of Inherited Metabolic Disease.

Glycobiology and the Paediatric Eye in Health and Disease

G. Gole, D. Coman, 2013 .

The Skeletal Manifestations of Deranged Glycosylation

R. Savarirayan, D. Coman, 2013 .

Prenatal Cardiac Ultrasound Finding in Congenital Disorder of Glycosylation Type 1a

A. Malhotra, S. Menahem, D. Coman, 2009, Fetal Diagnosis and Therapy.

The skeletal manifestations of the congenital disorders of glycosylation

M. Irving, J. Jaeken, R. Savarirayan, 2008, Clinical genetics.

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

M. Irving, J. Jaeken, R. Savarirayan, 2008, American journal of medical genetics. Part A.

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

Jodie L. Abrahams, J. L. Abrahams, B. Adamczyk, 2012, Molecular genetics and metabolism.

Human Cholesterol Biosynthesis Defects

D. Coman, E. Anderson, 2019, Apolipoproteins, Triglycerides and Cholesterol.

Triple P for Parents of Children with Phenylketonuria: A Nonrandomized Trial.

A. Inwood, A. Morawska, D. Coman, 2020, Journal of pediatric psychology.

Psychosocial functioning in children with phenylketonuria: Relationships between quality of life and parenting indicators.

A. Inwood, A. Morawska, D. Coman, 2019, Child: care, health and development.

Ocular Manifestations of a Novel Proximal 19p13.3 Microdeletion

D. Coman, L. Swan, 2018, Case reports in genetics.

An anaplerotic approach to correct the mitochondrial dysfunction in ataxia-telangiectasia (A-T)

M. Gatei, M. Lavin, R. Parton, 2021, Molecular metabolism.

Impaired endoplasmic reticulum-mitochondrial signaling in ataxia-telangiectasia

M. Gatei, M. Kastan, M. Lavin, 2020, iScience.

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

D. Coman, KG Sinclair, CJ Burke, 2006, Journal of paediatrics and child health.

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

B. Murdoch, D. Coman, S. Kilcoyne, 2014, Developmental neurorehabilitation.

Genetic aetiologies for childhood speech disorder: novel pathways co-expressed during brain development

Victoria E. Jackson, I. Scheffer, S. Fisher, 2022, Molecular Psychiatry.

Genetic abnormalities in a large cohort of Coffin–Siris syndrome patients

P. Lockhart, S. Kapoor, J. Milunsky, 2019, Journal of Human Genetics.

Leber Hereditary Optic Neuropathy and Longitudinally Extensive Transverse Myelitis.

G. Gole, D. Mackey, L. Kearns, 2018, JIMD reports.

LANGUAGE SKILLS IN A CHILD WITH LEBER HEREDITARY OPTIC NEUROPATHY FOLLOWING INTRATHECAL CHEMOTHERAPY FOR ACUTE LYMPHOBLASTIC LEUKEMIA

B. Murdoch, D. Coman, F. Lewis, 2010, Pediatric hematology and oncology.

Defective Protein Prenylation in a Spectrum of Patients With Mevalonate Kinase Deficiency

R. Arts, M. Rogers, P. Hissaria, 2019, Front. Immunol..

International clinical guidelines for the management of phosphomannomutase 2‐congenital disorders of glycosylation: Diagnosis, treatment and follow up

H. Freeze, M. Patterson, Christina Lam, 2019, Journal of inherited metabolic disease.

X-Linked Lissencephaly With Absent Corpus Callosum and Abnormal Genitalia

F. Wong, C. Shoubridge, G. McGillivray, 2017, Child neurology open.

Pediatric Hereditary Neuralgic Amyotrophy

D. Coman, G. Wallace, M. Sheppard, 2016, Child neurology open.

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

S. Mohammad, D. Coman, S. Calvert, 2014, Journal of paediatrics and child health.

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

S. McTaggart, D. Coman, J. Burke, 2006, Pediatric Nephrology.

Generation of iPSC lines from hereditary spastic paraplegia 56 (SPG56) patients and family members carrying CYP2U1 mutations.

E. Wolvetang, D. Coman, Hannah C Leeson, 2022, Stem cell research.

Genotypic and phenotypic spectrum of infantile liver failure due to pathogenic TRMU variants.

R. Ganetzky, H. Prokisch, E. Eklund, 2022, Genetics in medicine : official journal of the American College of Medical Genetics.

Erratum to: Spondyloenchondrodysplasia Due to Mutations in ACP5: A Comprehensive Survey

C. Wouters, Y. Crow, L. Adès, 2016, Journal of Clinical Immunology.

Microduplication with Autoimmune Inflammatory Arthritis

D. Coman, N. Adib, Yap Ts, 2014 .

DMP1-CDG (CDG1e) with Significant Gastrointestinal Manifestations; Phenotype and Genotype Expansion.

J. Cardinal, F. Connor, D. Coman, 2016, JIMD reports.

Behçet Disease-Like Symptoms with a Novel COPA Mutation

J. Cardinal, D. Coman, J. Hatch, 2020 .

Patient care standards for primary mitochondrial disease in Australia: an Australian adaptation of the Mitochondrial Medicine Society recommendations

D. Mackey, C. Sue, J. Christodoulou, 2021, Internal medicine journal.

COXPD9 an Evolving Multisystem Disease; Congenital Lactic Acidosis, Sensorineural Hearing Loss, Hypertrophic Cardiomyopathy, Cirrhosis and Interstitial Nephritis.

J. Cardinal, B. Lewis, R. Justo, 2017, JIMD reports.

Vitamin B12 Deficiency: an Update for the General Paediatrician

J. Smith, D. Coman, 2014 .

Normal Neurodevelopmental Outcomes in PNPO Deficiency: A Case Series and Literature Review.

P. Clayton, D. Coman, R. Webster, 2015, JIMD reports.

PNPO Deficiency and Cirrhosis: Expanding the Clinical Phenotype?

P. Clayton, P. Lewindon, D. Coman, 2015, JIMD reports.

New insights into carnitine‐acylcarnitine translocase deficiency from 23 cases: Management challenges and potential therapeutic approaches

K. Bhattacharya, M. Inbar‐Feigenberg, E. Glamuzina, 2021, Journal of inherited metabolic disease.

New indications and controversies in arginine therapy.

A. Boneh, J. Yaplito-Lee, D. Coman, 2008, Clinical nutrition.

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

J. McGrath, J. Mellerio, D. Coman, 2010, The British journal of dermatology.

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

G. Gole, J. Cardinal, D. Coman, 2018, Case reports in genetics.

Enzyme replacement therapy for mucopolysaccharidoses: opinions of patients and families.

M. Delatycki, V. Collins, J. Wraith, 2008, The Journal of pediatrics.

Fumarase Deficiency in Dichorionic Diamniotic Twins

M. Durkie, Simone Tregoning, D. Thorburn, 2013, Twin Research and Human Genetics.

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

J. Mcgill, D. Coman, C. Lander, 2006, Journal of Clinical Neuroscience.

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

S. Dunwoodie, D. Amor, D. Sparrow, 2008, American journal of medical genetics. Part A.

Detection of cryptic pathogenic copy number variations and constitutional loss of heterozygosity using high resolution SNP microarray analysis in 117 patients referred for cytogenetic analysis and impact on clinical practice

I. Scheffer, K. Choy, N. Pachter, 2008, Journal of Medical Genetics.

Application of Genome Sequencing from Blood to Diagnose Mitochondrial Diseases

AnneMarie E. Welch, M. Cowley, A. Minoche, 2021, Genes.

Recurrent Muscle Weakness with Rhabdomyolysis, Metabolic Crises, and Cardiac Arrhythmia Due to Bi-allelic TANGO2 Mutations.

Bradley P. Coe, Mahshid S. Azamian, Lisa T. Emrick, 2016, American journal of human genetics.

J. Cardinal, D. Coman, L. Swan, 2018, Clinics and practice.

Trisomy 16 Mosaicism at Chorionic Villus Sampling and Amniocentesis with a Normal Physical and Intellectual Outcome

R. Gardner, M. Pertile, D. Coman, 2010, Fetal Diagnosis and Therapy.

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

T. Burgess, D. Coman, Anand K. Ramineni, 2019, Clinical case reports.

Galactosemia, a Single Gene Disorder With Epigenetic Consequences

P. Rudd, E. Treacy, D. Murray, 2010, Pediatric Research.

Congenital disorder of glycosylation type 1a: Three siblings with a mild neurological phenotype

D. Appleton, J. Jaeken, J. Mcgill, 2007, Journal of Clinical Neuroscience.

Erratum to: Spondyloenchondrodysplasia Due to Mutations in ACP5: A Comprehensive Survey

C. Wouters, Y. Crow, L. Adès, 2016, Journal of Clinical Immunology.

Mutations in SH3PXD2B cause Borrone dermato-cardio-skeletal syndrome

Katherine R. Smith, P. Lockhart, M. Bahlo, 2013, European Journal of Human Genetics.

Metabolic Stress and Mitochondrial Dysfunction in Ataxia-Telangiectasia

M. Gatei, M. Lavin, D. Coman, 2022, Antioxidants.

UPF3B mutations including a novel synonymous variant associated with absent speech implicate nonsense mediated mRNA decay as a regulator of neurodevelopmental disorder gene networks.

J. Gécz, M. Wilkinson, M. Corbett, 2020, Human molecular genetics.

M. Reijnders, D. Segal, E. Wirrell, 2021, Neurology. Genetics.

A. Hallahan, J. Mcgill, D. Coman, 2008, Bone Marrow Transplantation.

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).

J. Yaplito-Lee, D. Bruno, H. Slater, 2010, Molecular genetics and metabolism.

SLC35A2‐CDG: Functional characterization, expanded molecular, clinical, and biochemical phenotypes of 30 unreported Individuals

J. Rosenfeld, I. Scheffer, S. Nelson, 2019, Human mutation.

The diagnostic utility of genome sequencing in a pediatric cohort with suspected mitochondrial disease

M. Cowley, A. Minoche, C. Sue, 2020, Genetics in Medicine.

Severe hypernatraemic dehydration in a breast‐fed neonate

D. Coman, H. Mercer, 2005, Journal of paediatrics and child health.

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

D. Amor, S. White, D. Coman, 2007, American journal of medical genetics. Part A.

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

M. Delatycki, V. Collins, J. Wraith, 2011, JIMD reports.

Deletions Revealing Recessive Genes: Deletions that reveal recessive genes

D. Coman, R. Gardner, 2007, European Journal of Human Genetics.

Hypoglycemia in CDG patients due to PMM2 mutations: Follow up on hyperinsulinemic patients

G. Enns, P. Witters, E. Morava, 2019, JIMD reports.

Deletions that reveal recessive genes.

D. Coman, R. Gardner, 2007, European Journal of Human Genetics.

Pediatric acute liver failure: Etiology, outcomes, and the role of serial pediatric end‐stage liver disease scores

D. Cartwright, P. Lewindon, J. Rajanayagam, 2013, Pediatric transplantation.

N‐acetylglutamate synthase deficiency with associated 3‐methylglutaconic aciduria: A case report

D. Coman, A. Selvanathan, Aoife Elliott, 2022, JIMD Reports.

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

J. Mcgill, S. McTaggart, O. Sakamoto, 2005, Pediatric Nephrology.

Mitochondrial Trifunctional Protein Deficiency: Severe Cardiomyopathy and Cardiac Transplantation.

J. Cardinal, R. Justo, R. Weintraub, 2017, JIMD reports.

De Novo 3q22.3q24 Microdeletion in a Patient With Blepharophimosis–Ptosis–Epicanthus Inversus Syndrome, Dandy-Walker Malformation, and Wisconsin Syndrome

D. Coman, Anand K. Ramineni, 2016, Child neurology open.

Early markers of vulnerable language skill development in galactosaemia

D. Coman, F. Lewis, M. Syrmis, 2014 .

Hepatic Copper Accumulation: A Novel Feature in Transient Infantile Liver Failure Due to TRMU Mutations?

A. Shaag, O. Elpeleg, P. Lewindon, 2015, JIMD reports.

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

L. Vissers, H. Waterham, J. Christodoulou, 2018, American journal of human genetics.

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

J. Christodoulou, J. Cardinal, W. Gold, 2018, Molecular genetics and metabolism.

Allan–Herndon–Dudley syndrome with unusual profound sensorineural hearing loss

H. Scott, A. Schreiber, C. Hahn, 2015, American journal of medical genetics. Part A.

Transient neonatal zinc deficiency in exclusively breastfed preterm infants

S. Moloney, P. Koorts, D. Cartwright, 2018, Journal of paediatrics and child health.

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

J. Mcgill, D. Coman, S. Klingberg, 2005, Journal of Inherited Metabolic Disease.

Development of cancer surveillance guidelines in ataxia telangiectasia: A Delphi‐based consensus survey of international experts

E. Cirillo, C. Pignata, P. Soler-Palacín, 2023, Cancer medicine.

WT1 complete gonadal dysgenesis with membranoproliferative glomerulonephritis: case series and literature review

R. Turner, J. Harraway, D. Coman, 2022, Pediatric Nephrology.

Persistent Hyperinsulinism in Kabuki Syndrome 2: Case Report and Literature Review

D. Coman, R. Chuk, Hobia Gole, 2016, Clinics and practice.

Age at assessment a critical factor when monitoring early communicative skills in children with galactosaemia

D. Coman, F. Lewis, Shannon M. DeJonge, 2014 .

Impaired language abilities and pre-linguistic communication skills in a child with a diagnosis of galactosaemia

B. Murdoch, D. Coman, S. Kilcoyne, 2013 .

Differential phonological awareness skills in children with classic galactosemia: a descriptive study of four cases.

B. Murdoch, D. Coman, S. Kilcoyne, 2012, JIMD reports.

996 Disease Characteristics of Acute Hepatic Porphyria Patients: ENVISION, a Phase 3 Global, Multicenter, Randomized, Double-Blind, Placebo-Controlled Trial

H. Bonkovsky, P. Stein, L. Gouya, 2019, American Journal of Gastroenterology.

3‐Methylglutaconyl‐CoA hydratase deficiency: When ascertainment bias confounds a biochemical diagnosis

K. Bhattacharya, A. Boneh, D. Coman, 2022, JIMD reports.

Spondyloenchondrodysplasia Due to Mutations in ACP5: A Comprehensive Survey

C. Wouters, Y. Crow, L. Adès, 2016, Journal of Clinical Immunology.

Differential phonological awareness skills in children with classic galactosemia: a descriptive study of four cases.

B. Murdoch, D. Coman, S. Kilcoyne, 2012, JIMD reports.

Biochemical and Glycomic effects of diet relaxation in Classical Galactosaemia

P. Rudd, W. Struwe, E. Treacy, 2010 .

The diagnostic utility of genome sequencing in a pediatric cohort with suspected mitochondrial disease

M. Cowley, A. Minoche, C. Sue, 2020, Genetics in Medicine.

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

S. Dunwoodie, D. Amor, D. Sparrow, 2008, American journal of medical genetics. Part A.

De Novo Mutations in SLC1A2 and CACNA1A Are Important Causes of Epileptic Encephalopathies.

Michael R. Johnson, G. Carvill, I. Scheffer, 2016, American journal of human genetics.