List of works - Marshall Summar

22q11.2 deletion syndrome in diverse populations.

scientific article published in April 2017

A longitudinal study of urea cycle disorders

scientific article

A novel mutation in the promoter of RARS2 causes pontocerebellar hypoplasia in two siblings.

scientific article published on 26 March 2015

A phase 1 dose-finding study of intravenous L-citrulline in sickle cell disease: a potential novel therapy for sickle cell pain crisis

scientific article published on 7 February 2018

Abnormal newborn screens and acylcarnitines in HIV-exposed and ARV-exposed infants

scientific article

Acute management of propionic acidemia.

scientific article

Acylcarnitine Profiles in HIV-Exposed, Uninfected Neonates in the United States

scientific article published on 8 November 2015

An ethnic-specific polymorphism in the catalytic subunit of glutamate-cysteine ligase impairs the production of glutathione intermediates in vitro.

scientific article

Assessing the functional characteristics of synonymous and nonsynonymous mutation candidates by use of large DNA constructs.

scientific article published on 8 March 2007

Automated Down syndrome detection using facial photographs.

scientific article published in January 2013

Benzoate therapy and carnitine deficiency in non-ketotic hyperglycinemia

scientific article published on 4 December 1995

Blood ammonia and glutamine as predictors of hyperammonemic crises in patients with urea cycle disorder.

scientific article

Chronic management and health supervision of individuals with propionic acidemia.

scientific article published on 10 September 2011

Climbing the Ladder: Experience with Developing a Large Group Genetic Counselor Career Ladder at Children's National Health System.

scientific article

Comparison of alterations in amino acids content in cultured astrocytes or neurons exposed to methylmercury separately or in co-culture

scientific article published on 31 January 2009

Connecting the dots between genes, biochemistry, and disease susceptibility: systems biology modeling in human genetics

scientific article

Considerations in the difficult-to-manage urea cycle disorder patient

scientific article

Constrained local model with independent component analysis and kernel density estimation: Application to down syndrome detection

scientific article published in April 2015

Cover Image, Volume 173A, Number 9, September 2017.

scientific article published in September 2017

Cross-sectional multicenter study of patients with urea cycle disorders in the United States

scientific article published on 17 June 2008

Current strategies for the management of neonatal urea cycle disorders

scientific article

Degree of heteroplasmy reflects oxidant damage in a large family with the mitochondrial DNA A8344G mutation

scientific article

Diagnosis, symptoms, frequency and mortality of 260 patients with urea cycle disorders from a 21-year, multicentre study of acute hyperammonaemic episodes.

scientific article published on 17 July 2008

Diagnostic dilemma caused by overlapping features of Prader-Willi syndrome and trisomy 18 during infancy.

scientific article published in January 2000

Digital facial dysmorphology for genetic screening: Hierarchical constrained local model using ICA.

scientific article published on 15 April 2014

Down syndrome detection from facial photographs using machine learning techniques

scientific article published on 28 February 2013

Down syndrome in diverse populations.

scientific article published in January 2017

Effect of cardiopulmonary bypass on urea cycle intermediates and nitric oxide levels after congenital heart surgery

scientific article

Effective hemodialysis and hemofiltration driven by an extracorporeal membrane oxygenation pump in infants with hyperammonemia

scientific article published in March 1996

Effects of meals high in carbohydrate, protein, and fat on ghrelin and peptide YY secretion in prepubertal children

scientific article published on 09 October 2009

Embryonic-endometrial interactions at implantation in humans

scientific article

Ensemble learning for the detection of facial dysmorphology

scientific article published in August 2014

Environmentally determined genetic expression: clinical correlates with molecular variants of carbamyl phosphate synthetase I.

scientific article published in April 2004

Erratum to: The phenotypic spectrum of organic acidurias and urea cycle disorders. Part 1: the initial presentation

scientific article published on 01 November 2015

Erratum to: The phenotypic spectrum of organic acidurias and urea cycle disorders. Part 2: the evolving clinical phenotype

scientific article published on 01 November 2015

Establishing a consortium for the study of rare diseases: The Urea Cycle Disorders Consortium

scientific article

Ethnic diversity in a critical gene responsible for glutathione synthesis.

scientific article

Evaluation of immunization rates and safety among children with inborn errors of metabolism.

scientific article published on 11 April 2011

Genetic Mapping of the Human Growth Hormone-Releasing Factor Gene (GHRF) Using Two Intragenic Polymorphisms Detected by PCR Amplification

article

Genetic continuity after the collapse of the Wari empire: mitochondrial DNA profiles from Wari and post-Wari populations in the ancient Andes.

scientific article published in September 2009

Genetic counseling issues in urea cycle disorders.

scientific article

Genetic differences in human circadian clock genes among worldwide populations

scientific article published on August 2008

Genetic mapping of the human pituitary-specific transcriptional factor gene and its analysis in familial panhypopituitary dwarfism

scientific article published on 7 November 1996

Genetic susceptibility to endomyocardial fibrosis

scientific article

Genetic variants of GSNOR and ADRB2 influence response to albuterol in African-American children with severe asthma

scientific article (publication date: July 2009)

Genetic variation in complement component 2 of the classical complement pathway is associated with increased mortality and infection: a study of 627 patients with trauma

scientific article published on May 2009

Genetic variation in the mitochondrial enzyme carbamyl-phosphate synthetase I predisposes children to increased pulmonary artery pressure following surgical repair of congenital heart defects: a validated genetic association study

scientific article published on 29 November 2006

Genetic variation in the urea cycle: a model resource for investigating key candidate genes for common diseases

scientific article published in January 2009

Hierarchical Constrained Local Model Using ICA and Its Application to Down Syndrome Detection

scientific article published in 2013

Identification of dysmorphic syndromes using landmark-specific local texture descriptors

scientific article published in April 2016

Increased prevalence of the HFE C282Y hemochromatosis allele in women with breast cancer

scientific article published in February 2004

Infectious precipitants of acute hyperammonemia are associated with indicators of increased morbidity in patients with urea cycle disorders.

scientific article published on 29 September 2013

L-Citrulline ameliorates chronic hypoxia-induced pulmonary hypertension in newborn piglets.

scientific article published on 17 July 2009

L-citrulline attenuates arrested alveolar growth and pulmonary hypertension in oxygen-induced lung injury in newborn rats.

scientific article

L-citrulline provides a novel strategy for treating chronic pulmonary hypertension in newborn infants

scientific article

Lack of association between autism and four heavy metal regulatory genes

scientific article published on 20 July 2011

Late onset N-acetylglutamate synthase deficiency caused by hypomorphic alleles

scientific article published in March 2005

Linkage Mapping of the Gene for Type III Collagen (COL3A1) to Human Chromosome 2q Using a VNTR Polymorphism

scientific article published in March 1994

Linkage Relationships of Human Arginine Vasopressin-Neurophysin-II and Oxytocin-Neurophysin-I to Prodynorphin and Other Loci on Chromosome 20

scientific article

Linkage analysis of the human dopamine β-hydroxylase gene

scientific article published in June 1991

Liver transplantation for pediatric metabolic disease

scientific article published on 17 January 2014

Low plasma citrulline levels are associated with acute respiratory distress syndrome in patients with severe sepsis

scientific article

Malignancy in Noonan syndrome and related disorders

scientific article

Mind the Gap

scientific article published in September 2014

Mitochondrial haplogroups and peripheral neuropathy during antiretroviral therapy: an adult AIDS clinical trials group study

scientific article published on September 2005

Molecular characterization of carbamoyl-phosphate synthetase (CPS1) deficiency using human recombinant CPS1 as a key tool.

scientific article

Molecular defects in human carbamoy phosphate synthetase I: mutational spectrum, diagnostic and protein structure considerations

scientific article

Multilocus analysis of hypertension: A hierarchical approach

scientific article published in January 2004

Natural history of propionic acidemia

scientific article published on 22 September 2011

Neonatal pulmonary hypertension--urea-cycle intermediates, nitric oxide production, and carbamoyl-phosphate synthetase function.

scientific article published in June 2001

Networking Across Borders for Individuals with Organic Acidurias and Urea Cycle Disorders: The E-IMD Consortium.

scientific article published on 22 February 2015

Neurologic considerations in propionic acidemia.

scientific article published on 19 October 2011

Neurological implications of urea cycle disorders

scientific article

Nitric oxide precursors and congenital heart surgery: A randomized controlled trial of oral citrulline

scientific article published in July 2006

Noonan syndrome in diverse populations.

scientific article

Nutritional management of urea cycle disorders.

scientific article

On the Creation, Utility and Sustaining of Rare Diseases Research Networks: Lessons learned from the Urea Cycle Disorders Consortium, the Japanese Urea Cycle Disorders Consortium and the European Registry and Network for Intoxication Type [...]

scientific article published in 2014

Peptide tyrosine tyrosine levels are increased in patients with urea cycle disorders.

scientific article published on 22 February 2012

Pharmacokinetics and safety of intravenously administered citrulline in children undergoing congenital heart surgery: Potential therapy for postoperative pulmonary hypertension

scientific article published in August 2007

Plasma fibroblast growth factor-21 levels in patients with inborn errors of metabolism

scientific article published on 4 September 2017

Population screening in a Druze community: the challenge and the reward.

scientific article

Prenatal treatment of ornithine transcarbamylase deficiency

scientific article published on 16 January 2018

Preoperative evaluation and comprehensive risk assessment for children with Down syndrome.

scientific article

Prolonged hypoxia augments L-citrulline transport by system A in the newborn piglet pulmonary circulation.

scientific article

Propionic acidemia consensus conference summary

scientific article published in January 2012

Propionic acidemia: To liver transplant or not to liver transplant?

scientific article published on 15 February 2012

Prospective versus clinical diagnosis and therapy of acute neonatal hyperammonaemia in two sisters with carbamyl phosphate synthetase deficiency

scientific article published in March 1992

Protein kinase C: A new linkage marker for growth hormone and for COL1A1

scientific article published in July 1989

Quantitative RT-PCR comparison of the urea and nitric oxide cycle gene transcripts in adult human tissues.

scientific article published on 03 March 2009

Recapitulation of metabolic defects in a model of propionic acidemia using patient-derived primary hepatocytes

scientific article

Recommendations for locus-specific databases and their curation

scientific article

Recurrent deletions and reciprocal duplications of 10q11.21q11.23 including CHAT and SLC18A3 are likely mediated by complex low-copy repeats

scientific article published on 2 November 2011

Recurrent mutations in the vasopressin-neurophysin II gene cause autosomal dominant neurohypophyseal diabetes insipidus

scientific article published on 01 June 1996

Redox-sensitive interaction between KIAA0132 and Nrf2 mediates indomethacin-induced expression of gamma-glutamylcysteine synthetase

scientific article (publication date: April 2002)

Relationship between carbamoyl-phosphate synthetase genotype and systemic vascular function

scientific article

Requirement of argininosuccinate lyase for systemic nitric oxide production.

scientific article

Rescue Treatment with L-Citrulline Inhibits Hypoxia-Induced Pulmonary Hypertension in Newborn Pigs.

scientific article

Respiratory syncytial virus infection reduces beta2-adrenergic responses in human airway smooth muscle

scientific article published on 08 June 2006

Save the biochemical geneticists!

scientific article published in September 2014

Shift work in nurses: contribution of phenotypes and genotypes to adaptation

scientific article

Short-term follow-up systems for positive newborn screens in the Washington Metropolitan Area and the United States

scientific article published on 4 November 2015

Significant Differences in Markers of Oxidant Injury between Idiopathic and Bronchopulmonary-Dysplasia-Associated Pulmonary Hypertension in Children

scientific article

Simple and inexpensive quantification of ammonia in whole blood

scientific article published on 30 April 2015

Sodium-coupled neutral amino acid transporter 1 (SNAT1) modulates L-citrulline transport and nitric oxide (NO) signaling in piglet pulmonary arterial endothelial cells

scientific article published on 15 January 2014

Targeted Echocardiographic Screening for Latent Rheumatic Heart Disease in Northern Uganda: Evaluating Familial Risk Following Identification of an Index Case.

scientific article

Tetrahydrobiopterin oral therapy recouples eNOS and ameliorates chronic hypoxia-induced pulmonary hypertension in newborn pigs.

scientific article published on 19 August 2016

The hemochromatosis C282Y allele: a risk factor for hepatic veno-occlusive disease after hematopoietic stem cell transplantation.

scientific article published in June 2005

The incidence of urea cycle disorders

scientific article

The phenotypic spectrum of organic acidurias and urea cycle disorders. Part 1: the initial presentation

scientific article published on 15 April 2015

The phenotypic spectrum of organic acidurias and urea cycle disorders. Part 2: the evolving clinical phenotype

scientific article published on 15 April 2015

Understanding the role of NOS-3 in ventilator-induced lung injury: don't take NO for an answer

scientific article published on 4 June 2010

Uniparental disomy of chromosome 2 resulting in lethal trifunctional protein deficiency due to homozygous alpha-subunit mutations

scientific article

Unmasked adult-onset urea cycle disorders in the critical care setting

scientific article

Urea cycle disorders: clinical presentation outside the newborn period.

scientific article

Urinary phenylacetylglutamine as dosing biomarker for patients with urea cycle disorders.

scientific article published on 18 August 2012

Vaccines are not associated with metabolic events in children with urea cycle disorders

scientific article

Williams–Beuren syndrome in diverse populations

scientific article published in May 2018

β2-Adrenergic receptor promoter haplotype influences the severity of acute viral respiratory tract infection during infancy: a prospective cohort study

scientific article published on 14 September 2015

γ-Glutamylcysteine ameliorates oxidative injury in neurons and astrocytes in vitro and increases brain glutathione in vivo.

scientific article

List of works by Marshall Summar

22q11.2 deletion syndrome in diverse populations.

A longitudinal study of urea cycle disorders

A novel mutation in the promoter of RARS2 causes pontocerebellar hypoplasia in two siblings.

A phase 1 dose-finding study of intravenous L-citrulline in sickle cell disease: a potential novel therapy for sickle cell pain crisis

Abnormal newborn screens and acylcarnitines in HIV-exposed and ARV-exposed infants

Acute management of propionic acidemia.

Acylcarnitine Profiles in HIV-Exposed, Uninfected Neonates in the United States

An ethnic-specific polymorphism in the catalytic subunit of glutamate-cysteine ligase impairs the production of glutathione intermediates in vitro.

Assessing the functional characteristics of synonymous and nonsynonymous mutation candidates by use of large DNA constructs.

Automated Down syndrome detection using facial photographs.

Benzoate therapy and carnitine deficiency in non-ketotic hyperglycinemia

Blood ammonia and glutamine as predictors of hyperammonemic crises in patients with urea cycle disorder.

Chronic management and health supervision of individuals with propionic acidemia.

Climbing the Ladder: Experience with Developing a Large Group Genetic Counselor Career Ladder at Children's National Health System.

Comparison of alterations in amino acids content in cultured astrocytes or neurons exposed to methylmercury separately or in co-culture

Connecting the dots between genes, biochemistry, and disease susceptibility: systems biology modeling in human genetics

Considerations in the difficult-to-manage urea cycle disorder patient

Constrained local model with independent component analysis and kernel density estimation: Application to down syndrome detection

Cover Image, Volume 173A, Number 9, September 2017.

Cross-sectional multicenter study of patients with urea cycle disorders in the United States

Current strategies for the management of neonatal urea cycle disorders

Degree of heteroplasmy reflects oxidant damage in a large family with the mitochondrial DNA A8344G mutation

Diagnosis, symptoms, frequency and mortality of 260 patients with urea cycle disorders from a 21-year, multicentre study of acute hyperammonaemic episodes.

Diagnostic dilemma caused by overlapping features of Prader-Willi syndrome and trisomy 18 during infancy.

Digital facial dysmorphology for genetic screening: Hierarchical constrained local model using ICA.

Down syndrome detection from facial photographs using machine learning techniques

Down syndrome in diverse populations.

Effect of cardiopulmonary bypass on urea cycle intermediates and nitric oxide levels after congenital heart surgery

Effective hemodialysis and hemofiltration driven by an extracorporeal membrane oxygenation pump in infants with hyperammonemia

Effects of meals high in carbohydrate, protein, and fat on ghrelin and peptide YY secretion in prepubertal children

Embryonic-endometrial interactions at implantation in humans

Ensemble learning for the detection of facial dysmorphology

Environmentally determined genetic expression: clinical correlates with molecular variants of carbamyl phosphate synthetase I.

Erratum to: The phenotypic spectrum of organic acidurias and urea cycle disorders. Part 1: the initial presentation

Erratum to: The phenotypic spectrum of organic acidurias and urea cycle disorders. Part 2: the evolving clinical phenotype

Establishing a consortium for the study of rare diseases: The Urea Cycle Disorders Consortium

Ethnic diversity in a critical gene responsible for glutathione synthesis.

Evaluation of immunization rates and safety among children with inborn errors of metabolism.

Genetic Mapping of the Human Growth Hormone-Releasing Factor Gene (GHRF) Using Two Intragenic Polymorphisms Detected by PCR Amplification

Genetic continuity after the collapse of the Wari empire: mitochondrial DNA profiles from Wari and post-Wari populations in the ancient Andes.

Genetic counseling issues in urea cycle disorders.

Genetic differences in human circadian clock genes among worldwide populations

Genetic mapping of the human pituitary-specific transcriptional factor gene and its analysis in familial panhypopituitary dwarfism

Genetic susceptibility to endomyocardial fibrosis

Genetic variants of GSNOR and ADRB2 influence response to albuterol in African-American children with severe asthma

Genetic variation in complement component 2 of the classical complement pathway is associated with increased mortality and infection: a study of 627 patients with trauma

Genetic variation in the mitochondrial enzyme carbamyl-phosphate synthetase I predisposes children to increased pulmonary artery pressure following surgical repair of congenital heart defects: a validated genetic association study

Genetic variation in the urea cycle: a model resource for investigating key candidate genes for common diseases

Hierarchical Constrained Local Model Using ICA and Its Application to Down Syndrome Detection

Identification of dysmorphic syndromes using landmark-specific local texture descriptors

Increased prevalence of the HFE C282Y hemochromatosis allele in women with breast cancer

Infectious precipitants of acute hyperammonemia are associated with indicators of increased morbidity in patients with urea cycle disorders.

L-Citrulline ameliorates chronic hypoxia-induced pulmonary hypertension in newborn piglets.

L-citrulline attenuates arrested alveolar growth and pulmonary hypertension in oxygen-induced lung injury in newborn rats.

L-citrulline provides a novel strategy for treating chronic pulmonary hypertension in newborn infants

Lack of association between autism and four heavy metal regulatory genes

Late onset N-acetylglutamate synthase deficiency caused by hypomorphic alleles

Linkage Mapping of the Gene for Type III Collagen (COL3A1) to Human Chromosome 2q Using a VNTR Polymorphism

Linkage Relationships of Human Arginine Vasopressin-Neurophysin-II and Oxytocin-Neurophysin-I to Prodynorphin and Other Loci on Chromosome 20

Linkage analysis of the human dopamine β-hydroxylase gene

Liver transplantation for pediatric metabolic disease

Low plasma citrulline levels are associated with acute respiratory distress syndrome in patients with severe sepsis

Malignancy in Noonan syndrome and related disorders

Mind the Gap

Mitochondrial haplogroups and peripheral neuropathy during antiretroviral therapy: an adult AIDS clinical trials group study

Molecular characterization of carbamoyl-phosphate synthetase (CPS1) deficiency using human recombinant CPS1 as a key tool.

Molecular defects in human carbamoy phosphate synthetase I: mutational spectrum, diagnostic and protein structure considerations

Multilocus analysis of hypertension: A hierarchical approach

Natural history of propionic acidemia

Neonatal pulmonary hypertension--urea-cycle intermediates, nitric oxide production, and carbamoyl-phosphate synthetase function.

Networking Across Borders for Individuals with Organic Acidurias and Urea Cycle Disorders: The E-IMD Consortium.

Neurologic considerations in propionic acidemia.

Neurological implications of urea cycle disorders

Nitric oxide precursors and congenital heart surgery: A randomized controlled trial of oral citrulline

Noonan syndrome in diverse populations.

Nutritional management of urea cycle disorders.

On the Creation, Utility and Sustaining of Rare Diseases Research Networks: Lessons learned from the Urea Cycle Disorders Consortium, the Japanese Urea Cycle Disorders Consortium and the European Registry and Network for Intoxication Type [...]

Peptide tyrosine tyrosine levels are increased in patients with urea cycle disorders.

Pharmacokinetics and safety of intravenously administered citrulline in children undergoing congenital heart surgery: Potential therapy for postoperative pulmonary hypertension