Marshall Summar
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Computer Science
Marshall Summar's Degrees
- PhD Computer Science Stanford University
- Masters Computer Science University of California, Berkeley
- Bachelors Computer Science University of California, Berkeley
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Why Is Marshall Summar Influential?
(Suggest an Edit or Addition)According to Wikipedia, Marshall L. Summar is an American physician, clinical geneticist and academic specializing in the field of genetics and rare disease. He is board-certified in pediatrics, biochemical genetics and clinical genetics. He is best known for his work in caring for children with rare genetic diseases.
Marshall Summar's Published Works
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Total number of citations to an author for the works they published in a given year. This highlights publication of the most important work(s) by the author
Published Works
- The incidence of urea cycle disorders. (2013) (205)
- Neonatal pulmonary hypertension--urea-cycle intermediates, nitric oxide production, and carbamoyl-phosphate synthetase function. (2001) (204)
- Angiotensin converting enzyme gene polymorphism: potential silencer motif and impact on progression in IgA nephropathy. (1996) (193)
- Requirement of argininosuccinate lyase for systemic nitric oxide production (2011) (192)
- Diagnosis, symptoms, frequency and mortality of 260 patients with urea cycle disorders from a 21‐year, multicentre study of acute hyperammonaemic episodes (2008) (187)
- Cross-sectional multicenter study of patients with urea cycle disorders in the United States. (2008) (186)
- Neurological implications of urea cycle disorders (2007) (175)
- The phenotypic spectrum of organic acidurias and urea cycle disorders. Part 1: the initial presentation (2015) (173)
- Urea Cycle Disorders Overview (2015) (167)
- Mitochondrial haplogroups and peripheral neuropathy during antiretroviral therapy: an adult AIDS clinical trials group study (2005) (167)
- The phenotypic spectrum of organic acidurias and urea cycle disorders. Part 2: the evolving clinical phenotype (2015) (160)
- Multilocus Analysis of Hypertension: A Hierarchical Approach (2004) (160)
- Shift Work in Nurses: Contribution of Phenotypes and Genotypes to Adaptation (2011) (155)
- Current strategies for the management of neonatal urea cycle disorders. (2001) (144)
- A longitudinal study of urea cycle disorders. (2014) (129)
- Unmasked adult-onset urea cycle disorders in the critical care setting. (2005) (122)
- Natural history of propionic acidemia. (2012) (116)
- Genetic Differences in Human Circadian Clock Genes among Worldwide Populations (2008) (109)
- Proceedings of a consensus conference for the management of patients with urea cycle disorders. (2001) (99)
- Acute management of propionic acidemia. (2012) (95)
- Liver transplantation for pediatric metabolic disease. (2014) (94)
- 22q11.2 deletion syndrome in diverse populations (2017) (91)
- Nitric oxide precursors and congenital heart surgery: a randomized controlled trial of oral citrulline. (2006) (91)
- Urea cycle disorders: clinical presentation outside the newborn period. (2005) (83)
- Chronic management and health supervision of individuals with propionic acidemia. (2012) (80)
- Redox-sensitive interaction between KIAA0132 and Nrf2 mediates indomethacin-induced expression of gamma-glutamylcysteine synthetase. (2002) (76)
- L-Citrulline Attenuates Arrested Alveolar Growth and Pulmonary Hypertension in Oxygen-Induced Lung Injury in Newborn Rats (2010) (71)
- Down syndrome in diverse populations (2017) (71)
- Molecular defects in human carbamoy phosphate synthetase I: mutational spectrum, diagnostic and protein structure considerations (2011) (71)
- Neurologic considerations in propionic acidemia. (2012) (69)
- Effects of meals high in carbohydrate, protein, and fat on ghrelin and peptide YY secretion in prepubertal children. (2009) (68)
- Digital facial dysmorphology for genetic screening: Hierarchical constrained local model using ICA (2014) (68)
- Increased Prevalence of the HFE C282Y Hemochromatosis Allele in Women with Breast Cancer (2004) (68)
- Establishing a consortium for the study of rare diseases: The Urea Cycle Disorders Consortium. (2010) (67)
- Genetic variants of GSNOR and ADRB2 influence response to albuterol in African‐American children with severe asthma (2009) (65)
- Relationship Between Carbamoyl-Phosphate Synthetase Genotype and Systemic Vascular Function (2004) (62)
- Low plasma citrulline levels are associated with acute respiratory distress syndrome in patients with severe sepsis (2013) (62)
- Noonan syndrome in diverse populations (2017) (61)
- L-Citrulline ameliorates chronic hypoxia-induced pulmonary hypertension in newborn piglets. (2009) (61)
- Recommendations for locus‐specific databases and their curation (2008) (59)
- Pharmacokinetics and safety of intravenously administered citrulline in children undergoing congenital heart surgery: potential therapy for postoperative pulmonary hypertension. (2007) (58)
- Preoperative evaluation and comprehensive risk assessment for children with Down syndrome (2016) (55)
- Inborn Errors of Metabolism with Hyperammonemia: Urea Cycle Defects and Related Disorders. (2018) (55)
- Characterization of genomic structure and polymorphisms in the human carbamyl phosphate synthetase I gene. (2003) (53)
- Alteration of transcriptional and post-transcriptional expression of gamma-glutamylcysteine synthetase by diethyl maleate. (1997) (53)
- Benzoate therapy and carnitine deficiency in non-ketotic hyperglycinemia. (1995) (51)
- Williams–Beuren syndrome in diverse populations (2018) (50)
- Effect of cardiopulmonary bypass on urea cycle intermediates and nitric oxide levels after congenital heart surgery. (2003) (48)
- Environmentally determined genetic expression: clinical correlates with molecular variants of carbamyl phosphate synthetase I. (2004) (48)
- Heterogeneity in hereditary pancreatitis. (1998) (48)
- Recurrent deletions and reciprocal duplications of 10q11.21q11.23 including CHAT and SLC18A3 are likely mediated by complex low‐copy repeats (2012) (46)
- Rescue Treatment with L-Citrulline Inhibits Hypoxia-Induced Pulmonary Hypertension in Newborn Pigs. (2014) (44)
- Genetic continuity after the collapse of the Wari empire: mitochondrial DNA profiles from Wari and post-Wari populations in the ancient Andes. (2009) (44)
- Genetic variation in the urea cycle: a model resource for investigating key candidate genes for common diseases (2009) (43)
- Late onset N‐acetylglutamate synthase deficiency caused by hypomorphic alleles (2005) (41)
- Black Race Is Associated with a Lower Risk of Bronchopulmonary Dysplasia. (2019) (40)
- Evaluation of Immunization Rates and Safety Among Children With Inborn Errors of Metabolism (2009) (39)
- Uniparental disomy of chromosome 2 resulting in lethal trifunctional protein deficiency due to homozygous α‐subunit mutations (2002) (38)
- Cerebral defects and nephrogenic diabetes insipidus with the ARC syndrome: additional findings or a new syndrome (ARCC-NDI)? (1997) (38)
- Malignancy in Noonan syndrome and related disorders (2015) (38)
- Linkage relationships of human arginine vasopressin-neurophysin-II and oxytocin-neurophysin-I to prodynorphin and other loci on chromosome 20. (1990) (37)
- Population screening in a Druze community: the challenge and the reward (2008) (37)
- The hemochromatosis C282Y allele: a risk factor for hepatic veno-occlusive disease after hematopoietic stem cell transplantation (2005) (36)
- Urinary phenylacetylglutamine as dosing biomarker for patients with urea cycle disorders. (2012) (36)
- Molecular Characterization of Carbamoyl‐Phosphate Synthetase (CPS1) Deficiency Using Human Recombinant CPS1 as a Key Tool (2013) (34)
- Molecular genetic research into carbamoyl-phosphate synthase I: Molecular defects and linkage markers (1998) (34)
- Connecting the dots between genes, biochemistry, and disease susceptibility: systems biology modeling in human genetics. (2003) (34)
- Assignment of the gene (GLCLC) that encodes the heavy subunit of gamma-glutamylcysteine synthetase to human chromosome 6. (1995) (33)
- L‐citrulline provides a novel strategy for treating chronic pulmonary hypertension in newborn infants (2014) (33)
- Quantitative RT-PCR comparison of the urea and nitric oxide cycle gene transcripts in adult human tissues. (2009) (33)
- 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. (2007) (32)
- Nutritional management of urea cycle disorders. (2005) (32)
- Rapid deployment of a telemedicine care model for genetics and metabolism during COVID‐19 (2020) (31)
- Physical and linkage mapping of human carbamyl phosphate synthetase I (CPS1) and reassignment from 2p to 2q35. (1995) (31)
- A novel mutation in the promoter of RARS2 causes pontocerebellar hypoplasia in two siblings (2015) (29)
- Cornelia de Lange syndrome in diverse populations (2019) (29)
- Vaccines Are Not Associated With Metabolic Events in Children With Urea Cycle Disorders (2011) (29)
- Vascular Endothelial Growth Factor Is Expressed in Ovine Pulmonary Vascular Smooth Muscle Cells in Vitro and Regulated by Hypoxia and Dexamethasone 1 (1997) (28)
- Identification of dysmorphic syndromes using landmark-specific local texture descriptors (2016) (27)
- Assignment of the human gene (GLCLR) that encodes the regulatory subunit of gamma-glutamylcysteine synthetase to chromosome 1p21. (1996) (27)
- Incidence of maple syrup urine disease, propionic acidemia, and methylmalonic aciduria from newborn screening data (2018) (27)
- γ-Glutamylcysteine ameliorates oxidative injury in neurons and astrocytes in vitro and increases brain glutathione in vivo. (2011) (26)
- Molecular cloning, sequencing, chromosomal localization, and tissue distribution of the human Na+/H+ exchanger (SLC9A2). (1995) (26)
- Evidence that the Saethre-Chotzen syndrome locus lies between D7S664 and D7S507, by genetic analysis and detection of a microdeletion in a patient. (1994) (26)
- Infectious precipitants of acute hyperammonemia are associated with indicators of increased morbidity in patients with urea cycle disorders. (2013) (25)
- Hierarchical Constrained Local Model Using ICA and Its Application to Down Syndrome Detection (2013) (24)
- Transatlantic combined and comparative data analysis of 1095 patients with urea cycle disorders—A successful strategy for clinical research of rare diseases (2018) (24)
- Tetrahydrobiopterin oral therapy recouples eNOS and ameliorates chronic hypoxia-induced pulmonary hypertension in newborn pigs. (2016) (24)
- Respiratory Syncytial Virus Infection Reduces β2-Adrenergic Responses in Human Airway Smooth Muscle (2006) (24)
- Networking Across Borders for Individuals with Organic Acidurias and Urea Cycle Disorders: The E-IMD Consortium. (2015) (23)
- Recurrent mutations in the vasopressin-neurophysin II gene cause autosomal dominant neurohypophyseal diabetes insipidus. (1996) (23)
- Genetic counseling issues in urea cycle disorders. (2005) (23)
- BLOOD AMMONIA AND GLUTAMINE AS PREDICTORS OF HYPERAMMONEMIC CRISES IN UREA CYCLE DISORDER PATIENTS (2014) (22)
- Ethnic diversity in a critical gene responsible for glutathione synthesis. (2003) (21)
- Down syndrome detection from facial photographs using machine learning techniques (2013) (21)
- Linkage analysis of the human dopamine β-hydroxylase gene (1991) (20)
- Evaluation of dietary treatment and amino acid supplementation in organic acidurias and urea‐cycle disorders: On the basis of information from a European multicenter registry (2019) (20)
- Degree of heteroplasmy reflects oxidant damage in a large family with the mitochondrial DNA A8344G mutation. (2005) (20)
- Automated down syndrome detection using facial photographs (2013) (20)
- Decreased plasma l-arginine levels in organic acidurias (MMA and PA) and decreased plasma branched-chain amino acid levels in urea cycle disorders as a potential cause of growth retardation: Options for treatment. (2019) (19)
- Genetic susceptibility to endomyocardial fibrosis (2014) (18)
- The frequent observation of evidence for nonsense-mediated decay in RNA from patients with carbamyl phosphate synthetase I deficiency. (2006) (18)
- Lack of association between autism and four heavy metal regulatory genes. (2011) (17)
- Targeted Echocardiographic Screening for Latent Rheumatic Heart Disease in Northern Uganda: Evaluating Familial Risk Following Identification of an Index Case (2016) (17)
- Considerations in the difficult-to-manage urea cycle disorder patient. (2005) (17)
- 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 Metabolic Diseases. (2014) (16)
- Propionic acidemia consensus conference summary. (2012) (16)
- Genetic mapping of the human pituitary-specific transcriptional factor gene and its analysis in familial panhypopituitary dwarfism (1996) (14)
- Sodium-Coupled Neutral Amino Acid Transporter 1 (SNAT1) Modulates L-Citrulline Transport and Nitric Oxide (NO) Signaling in Piglet Pulmonary Arterial Endothelial Cells (2014) (14)
- Respiratory syncytial virus infection reduces beta2-adrenergic responses in human airway smooth muscle. (2006) (14)
- Recapitulation of metabolic defects in a model of propionic acidemia using patient-derived primary hepatocytes. (2016) (14)
- Simple and inexpensive quantification of ammonia in whole blood. (2015) (14)
- Comparison of alterations in amino acids content in cultured astrocytes or neurons exposed to methylmercury separately or in co-culture (2009) (13)
- Ensemble learning for the detection of facial dysmorphology (2014) (13)
- Interstitial deletion of chromosome 2q32‐34 associated with multiple congenital anomalies and a urea cycle defect (CPS I deficiency) (2004) (13)
- Patterns of Dietary Supplement Use in Children with Down Syndrome (2018) (13)
- Propionic acidemia: To liver transplant or not to liver transplant? (2012) (11)
- Linkage mapping of the gene for type III collagen (COL3A1) to human chromosome 2q using a VNTR polymorphism. (1994) (11)
- 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. (2009) (11)
- Prolonged hypoxia augments L-citrulline transport by system A in the newborn piglet pulmonary circulation. (2012) (11)
- Erratum to: The phenotypic spectrum of organic acidurias and urea cycle disorders. Part 1: the initial presentation (2015) (10)
- An ethnic-specific polymorphism in the catalytic subunit of glutamate-cysteine ligase impairs the production of glutathione intermediates in vitro. (2010) (10)
- Transatlantic combined and comparative data analysis of 1095 patients with urea cycle disorders—a successful strategy for clinical research of rare diseases (2018) (10)
- Metallothionein and autism (2008) (9)
- Linkage analysis of the human dopamine beta-hydroxylase gene. (1991) (9)
- Genes regulating glutathione concentrations in X-ray-transformed rat embryo fibroblasts: changes in γ-glutamylcysteine synthetase and γ-glutamyltranspeptidase expression (1994) (9)
- Tricarboxylic acid cycle enzyme activities in a mouse model of methylmalonic aciduria. (2019) (9)
- Climbing the Ladder: Experience with Developing a Large Group Genetic Counselor Career Ladder at Children’s National Health System (2016) (9)
- Combined L-citrulline and tetrahydrobiopterin therapy improves NO signaling and ameliorates chronic hypoxia-induced pulmonary hypertension in newborn pigs. (2020) (9)
- Prospective versus clinical diagnosis and therapy of acute neonatal hyperammonaemia in two sisters with carbamyl phosphate synthetase deficiency (1992) (9)
- Genetic mapping of the human growth hormone-releasing factor gene (GHRF) using two intragenic polymorphisms detected by PCR amplification. (1994) (9)
- A phase 1 dose‐finding study of intravenous L‐citrulline in sickle cell disease: a potential novel therapy for sickle cell pain crisis (2019) (8)
- Prenatal treatment of ornithine transcarbamylase deficiency. (2018) (8)
- Protein kinase C: a new linkage marker for growth hormone and for COL1A1. (1989) (8)
- Assessing the functional characteristics of synonymous and nonsynonymous mutation candidates by use of large DNA constructs. (2007) (8)
- Metabolic basis of pediatric heart disease (2005) (8)
- Plasma fibroblast growth factor-21 levels in patients with inborn errors of metabolism☆ (2017) (7)
- Significant Differences in Markers of Oxidant Injury between Idiopathic and Bronchopulmonary-Dysplasia-Associated Pulmonary Hypertension in Children (2012) (6)
- Attitudes regarding vaccination among practitioners of clinical biochemical genetics. (2008) (5)
- Erratum to: The phenotypic spectrum of organic acidurias and urea cycle disorders. Part 2: the evolving clinical phenotype (2015) (5)
- Save the biochemical geneticists! (2014) (4)
- Objective differential diagnosis of Noonan and Williams–Beuren syndromes in diverse populations using quantitative facial phenotyping (2021) (4)
- Dexamethasone significantly attenuates sub-arachnoid hemorrhage-induced elevation in cerebrospinal fluid citrulline and leukocytes. (2012) (4)
- Understanding the role of NOS-3 in ventilator-induced lung injury: don't take NO for an answer. (2010) (4)
- Genes regulating glutathione concentration in X-ray transformed rat embryo fibroblasts: Changes in γ-glutamylcysteine synthetase and γ-glutamyl transpeptidase expression (1993) (4)
- Constrained local model with independent component analysis and kernel density estimation: Application to down syndrome detection (2015) (4)
- Allele in Women with Breast Cancer Hemochromatosis HFE C 282 Y Increased Prevalence of the Updated (2004) (3)
- Genes regulating glutathione concentrations in X-ray-transformed rat embryo fibroblasts: changes in gamma-glutamylcysteine synthetase and gamma-glutamyltranspeptidase expression. (1994) (3)
- Isofurans, Novel Lipid Peroxidation Products, Are Increased in Bronchoalveolar Lavage (BAL), and Exhaled Breath Condensate (EBC) after Allergen Challenge in Human Allergic AsthmaticsIn Vivo. (2009) (2)
- β2-Adrenergic receptor promoter haplotype influences the severity of acute viral respiratory tract infection during infancy: a prospective cohort study (2015) (2)
- Peptide tyrosine tyrosine levels are increased in patients with urea cycle disorders. (2012) (2)
- Invited commentary: His life was lost but his heart still beats: In honor of children harmed by child abuse (2019) (2)
- Diagnostic dilemma caused by overlapping features of Prader-Willi syndrome and trisomy 18 during infancy. (2000) (2)
- Suppression Of Allergen-induced Oxidant Stress By Vitamin E In Atopic Asthmatic Airways In Vivo (2010) (1)
- Prolonged Hypoxia Augments L-Citrulline Transport By System A In The Newborn Piglet Pulmonary Circulation (2012) (1)
- Instructions for the preparation of gene mapping reports (1995) (1)
- Hyperammonemia from a Urea Cycle Disorder Presenting in Adulthood (2009) (1)
- The use of linkage analysis and the Centre d'Etude Polymorphisme Humain (CEPH) panel of DNA in the study of the arginine vasopressin, oxytocin and prodynorphin gene loci. (1992) (1)
- Folic acid, either solely or combined with L‐citrulline, improves NO signaling and ameliorates chronic hypoxia‐induced pulmonary hypertension in newborn pigs (2021) (1)
- Response to letter, broken bones, and irresponsible testimony: Enough is enough already: The flawed Ehlers–Danlos syndrome infant fragility theory should not rule (2019) (1)
- Liver Disease in Children: Urea Cycle Disorders (2007) (1)
- Clustering of mutations in the carbamyl phosphate synthetase I gene (1994) (0)
- Subject Index, Vol. 70, 1995 (1995) (0)
- Studying RNA instability mutations via a novel model using a BAC clone. (2005) (0)
- The Rare Disease Research Scholars Program: A training curriculum for clinical researchers with mixed methods evaluation study (2021) (0)
- Figure 2. [Steps in the evaluation of a newborn with hyperammonemia]. (2015) (0)
- L‐Citrulline Inhibits Chronic Hypoxia‐Induced Pulmonary Hypertension in Newborn Piglets (2008) (0)
- Table 1. [Cognitive and Adaptive Outcome in Children with UCD Age 3-16 Years]. (2015) (0)
- Hereditary pancreatitis associated with a balanced translocation (5q;11p) (1994) (0)
- Erratum: Redox-sensitive interaction between KIAA0132 and Nrf2 mediates indomethacin-induced expression of γ-glutamylcysteine synthetase (Free Radical Biology and Medicine (2002) 32 (650-662) PII: S089158490200755) (2002) (0)
- Induction of Glutathione Synthesis by Indomethacin is Regulated by Nrf2/Inrf2 redox Interactions and MEK-1 activity (2002) (0)
- Cover Image, Volume 173A, Number 4, April 2017. (2017) (0)
- Figure 3. [Testing used in the diagnosis of urea cycle disorders]. (2015) (0)
- Table 3. [Estimated Incidence of Individual Urea Cycle Disorders]. (2015) (0)
- Association of citrulline concentration at birth with lower respiratory tract infection in infancy: Findings from a multi-site birth cohort study (2022) (0)
- Cover Image, Volume 173A, Number 9, September 2017. (2017) (0)
- An Insertion/Deletion Polymorphism in the Glutathione Biosynthesis Pathway Is Associated with Earlier Onset of Alzheimer's Disease and Increased Susceptibility to Oxidant Injury In Vitro (2010) (0)
- Extracorporeal detoxification as a treatment of acute hyperammonemia (2015) (0)
- Presentation and Management of Urea Cycle Disorders Outside the Newborn Period (2005) (0)
- The Use of Computers in Clinical Nephrology (1990) (0)
- Design of an adaptive randomized clinical trial of intravenous citrulline for sickle cell pain crisis in the emergency department (2023) (0)
- HST5040: An investigational oral small molecule therapy entering phase 2 clinical development for methylmalonic (MMA) and propionic (PA) acidemias (2021) (0)
- Table 2. [Urea Cycle Disorders: Molecular Genetics]. (2015) (0)
- Figure 1. [The urea cycle (see Differential Diagnosis)]. (2015) (0)
- Table 4. [IV Ammonia Scavenger Therapy Protocol]. (2015) (0)
- Corrigendum (2019) (0)
- Oxidant stress and pulmonary hypertension in congenital heart surgery (2003) (0)
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