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Research Output 1977 2019

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2019

An N-terminal heterozygous missense CASK mutation is associated with microcephaly and bilateral retinal dystrophy plus optic nerve atrophy

LaConte, L. E. W., Chavan, V., DeLuca, S., Rubin, K., Malc, J., Berry, S. A., Gail Summers, C. & Mukherjee, K., Jan 1 2019, In : American Journal of Medical Genetics, Part A. 179, 1, p. 94-103 10 p.

Research output: Contribution to journalArticle

Retinal Dystrophies
Optic Atrophy
Microcephaly
Missense Mutation
Optic Nerve
1 Citation (Scopus)
Adrenoleukodystrophy
Newborn Infant
Adrenal Insufficiency
Lysophosphatidylcholines
Pedigree
Inborn Urea Cycle Disorder
Cognition
Therapeutics
Intellectual Disability
Liver Transplantation
Newborn Infant
Research
Bioethics
Translational Medical Research
Parents
1 Citation (Scopus)
Rare Diseases
Urea
Research
Inborn Urea Cycle Disorder
Ornithine Carbamoyltransferase Deficiency Disease

Variants in TCF20 in neurodevelopmental disability: description of 27 new patients and review of literature

Torti, E., Keren, B., Palmer, E. E., Zhu, Z., Afenjar, A., Anderson, I. J., Andrews, M. V., Atkinson, C., Au, M., Berry, S. A., Bowling, K. M., Boyle, J., Buratti, J., Cathey, S. S., Charles, P., Cogne, B., Courtin, T., Escobar, L. F., Finley, S. L., Graham, J. M. & 33 othersGrange, D. K., Heron, D., Hewson, S., Hiatt, S. M., Hibbs, K. A., Jayakar, P., Kalsner, L., Larcher, L., Lesca, G., Mark, P. R., Miller, K., Nava, C., Nizon, M., Pai, G. S., Pappas, J., Parsons, G., Payne, K., Putoux, A., Rabin, R., Sabatier, I., Shinawi, M., Shur, N., Skinner, S. A., Valence, S., Warren, H., Whalen, S., Crunk, A., Douglas, G., Monaghan, K. G., Person, R. E., Willaert, R., Solomon, B. D. & Juusola, J., Jan 1 2019, In : Genetics in Medicine.

Research output: Contribution to journalArticle

Exome
Craniosynostoses
Intellectual Disability
Seizures
Brain
2018
3 Citations (Scopus)

Biallelic Mutations in FUT8 Cause a Congenital Disorder of Glycosylation with Defective Fucosylation

Ng, B. G., Xu, G., Chandy, N., Steyermark, J., Shinde, D. N., Radtke, K., Raymond, K., Lebrilla, C. B., AlAsmari, A., Suchy, S. F., Powis, Z., Faqeih, E. A., Berry, S. A., Kronn, D. F. & Freeze, H. H., Jan 4 2018, In : American Journal of Human Genetics. 102, 1, p. 188-195 8 p.

Research output: Contribution to journalArticle

Congenital Disorders of Glycosylation
Fucosyltransferases
Mutation
Polysaccharides
Exome
8 Citations (Scopus)

Biochemical markers and neuropsychological functioning in distal urea cycle disorders

Members of the Urea Cycle Disorders Consortium, Jul 1 2018, In : Journal of Inherited Metabolic Disease. 41, 4, p. 657-667 11 p.

Research output: Contribution to journalArticle

Inborn Urea Cycle Disorder
Hyperargininemia
Biomarkers
Citrullinemia
Ammonia
3 Citations (Scopus)

Clinical and genetic spectrum of AMPD2-related pontocerebellar hypoplasia type 9

Kortüm, F., Jamra, R. A., Alawi, M., Berry, S. A., Borck, G., Helbig, K. L., Tang, S., Huhle, D., Korenke, G. C., Hebbar, M., Shukla, A., Girisha, K. M., Steinlin, M., Waldmeier-Wilhelm, S., Montomoli, M., Guerrini, R., Lemke, J. R. & Kutsche, K., May 1 2018, In : European Journal of Human Genetics. 26, 5, p. 695-708 14 p.

Research output: Contribution to journalArticle

Microcephaly
Protein Isoforms
Pons
Paraplegia
Mesencephalon
Chromosome Deletion
Necrotizing Enterocolitis
Chromosomes, Human, Pair 6
Siblings
Necrosis

Pharmacokinetics of glycerol phenylbutyrate in pediatric patients 2 months to 2 years of age with urea cycle disorders

Berry, S. A., Vockley, J., Vinks, A. A., Dong, M., Diaz, G. A., McCandless, S. E., Smith, W. E., Harding, C. O., Zori, R., Ficicioglu, C., Lichter-Konecki, U., Perdok, R., Robinson, B., Holt, R. J. & Longo, N., Nov 1 2018, In : Molecular Genetics and Metabolism. 125, 3, p. 251-257 7 p.

Research output: Contribution to journalArticle

Inborn Urea Cycle Disorder
Pediatrics
Pharmacokinetics
Urea
Acids
3 Citations (Scopus)
Noonan Syndrome
Neurofibromatosis 1
Language
Attention Deficit Disorder with Hyperactivity
Siblings
Rare Diseases
Urea
Research
Inborn Urea Cycle Disorder
Ornithine Carbamoyltransferase Deficiency Disease
2017

An Exploration of Genetic Test Utilization, Genetic Counseling, and Consanguinity within the Inborn Errors of Metabolism Collaborative (IBEMC)

Stein, Q. P., Vockley, C. W., Edick, M. J., Zhai, S., Hiner, S. J., Loman, R. S., Davis-Keppen, L., Zuck, T. A., Cameron, C. A., Berry, S. A. & For The Inborn Errors Of Metabolism Collaborative, Dec 1 2017, In : Journal of Genetic Counseling. 26, 6, p. 1238-1243 6 p.

Research output: Contribution to journalArticle

Consanguinity
Inborn Errors Metabolism
Genetic Counseling
Genetic Testing
Fatty Acids
5 Citations (Scopus)
Propionic Acidemia
Inborn Errors Metabolism
Symptom Assessment
Information Systems
Newborn Infant
3 Citations (Scopus)

Safety and efficacy of glycerol phenylbutyrate for management of urea cycle disorders in patients aged 2 months to 2 years

Berry, S. A., Longo, N., Diaz, G. A., McCandless, S. E., Smith, W. E., Harding, C. O., Zori, R., Ficicioglu, C., Lichter-Konecki, U., Robinson, B. & Vockley, J., Nov 1 2017, In : Molecular Genetics and Metabolism. 122, 3, p. 46-53 8 p.

Research output: Contribution to journalArticle

Inborn Urea Cycle Disorder
Urea
Safety
Glutamine
Ammonia
2016
2 Citations (Scopus)
Acyl-CoA Dehydrogenase
Inborn Errors Metabolism
Metabolism
Health
Newborn Infant
4 Citations (Scopus)

Glutamine and hyperammonemic crises in patients with urea cycle disorders

Lee, B., Diaz, G. A., Rhead, W., Lichter-Konecki, U., Feigenbaum, A., Berry, S. A., Le Mons, C., Bartley, J., Longo, N., Nagamani, S. C., Berquist, W., Gallagher, R. C., Harding, C. O., McCandless, S. E., Smith, W., Schulze, A., Marino, M., Rowell, R., Coakley, D. F., Mokhtarani, M. & 1 othersScharschmidt, B. F., Jan 1 2016, In : Molecular Genetics and Metabolism. 117, 1, p. 27-32 6 p.

Research output: Contribution to journalArticle

Inborn Urea Cycle Disorder
Glutamine
Urea
Ammonia
Odds Ratio
3 Citations (Scopus)

Inborn Errors of Metabolism Collaborative: Large-scale collection of data on long-term follow-up for newborn-screened conditions

Berry, S. A., Leslie, N. D., Edick, M. J., Hiner, S., Justice, K. & Cameron, C., Dec 1 2016, In : Genetics in Medicine. 18, 12, p. 1276-1281 6 p.

Research output: Contribution to journalArticle

Inborn Errors Metabolism
Newborn Infant
Information Systems
Decision Making
Public Health
17 Citations (Scopus)

Outcomes and genotype-phenotype correlations in 52 individuals with VLCAD deficiency diagnosed by NBS and enrolled in the IBEM-IS database

Pena, L. D. M., van Calcar, S. C., Hansen, J., Edick, M. J., Walsh Vockley, C., Leslie, N., Cameron, C., Mohsen, A. W., Berry, S. A., Arnold, G. L. & Vockley, J., Aug 1 2016, In : Molecular Genetics and Metabolism. 118, 4, p. 272-281 10 p.

Research output: Contribution to journalArticle

Long-Chain Acyl-CoA Dehydrogenase
Inborn Errors Metabolism
Genetic Association Studies
Information Systems
Metabolism
5 Citations (Scopus)
methylcrotonoyl-CoA carboxylase
Inborn Errors Metabolism
Information Systems
Metabolism
Screening
7 Citations (Scopus)

Outcomes of four patients with homocysteine remethylation disorders detected by newborn screening

Wong, D., Tortorelli, S., Bishop, L., Sellars, E. A., Schimmenti, L. A., Gallant, N., Prada, C. E., Hopkin, R. J., Leslie, N. D., Berry, S. A., Rosenblatt, D. S., Fair, A. L., Matern, D., Raymond, K., Oglesbee, D., Rinaldo, P. & Gavrilov, D., Feb 1 2016, In : Genetics in Medicine. 18, 2, p. 162-167 6 p.

Research output: Contribution to journalArticle

Homocysteine
Newborn Infant
Methionine
Early Diagnosis
Therapeutics
2015
16 Citations (Scopus)

Autosomal-dominant multiple pterygium syndrome is caused by mutations in MYH3

Chong, J. X., Burrage, L. C., Beck, A. E., Marvin, C. T., McMillin, M. J., Shively, K. M., Harrell, T. M., Buckingham, K. J., Bacino, C. A., Jain, M., Alanay, Y., Berry, S. A., Carey, J. C., Gibbs, R. A., Lee, B. H., Krakow, D., Shendure, J., Nickerson, D. A., Abecasis, G. R., Anderson, P. & 44 othersBlue, E. M., Annable, M., Browning, B. L., Chen, C., Chin, J., Cooper, G. M., Davis, C. P., Frazar, C., He, Z., Jain, P., Jarvik, G. P., Jimenez, G., Johanson, E., Jun, G., Kircher, M., Kolar, T., Krauter, S. A., Krumm, N., Leal, S. M., Luksic, D., McGee, S., O'Reilly, P., Paeper, B., Patterson, K., Perez, M., Phillips, S. W., Pijoan, J., Poel, C., Reinier, F., Robertson, P. D., Santos-Cortez, R., Shaffer, T., Shephard, C., Siegel, D. L., Smith, J. D., Staples, J. C., Tabor, H. K., Tackett, M., Underwood, J. G., Wegener, M., Wang, G., Wheeler, M. M., Yi, Q. & Bamshad, M. J., May 7 2015, In : American Journal of Human Genetics. 96, 5, p. 841-849 9 p.

Research output: Contribution to journalArticle

Mutation
Pterygium
Scoliosis
Myosins
Exome
14 Citations (Scopus)
Inborn Urea Cycle Disorder
Glutamine
Ammonia
Fasting
Viverridae
6 Citations (Scopus)

Lack of IL7Rα expression in T cells is a hallmark of T-cell immunodeficiency in Schimke immuno-osseous dysplasia (SIOD)

Sanyal, M., Morimoto, M., Baradaran-Heravi, A., Choi, K., Kambham, N., Jensen, K., Dutt, S., Dionis-Petersen, K. Y., Liu, L. X., Felix, K., Mayfield, C., Dekel, B., Bokenkamp, A., Fryssira, H., Guillen-Navarro, E., Lama, G., Brugnara, M., Lücke, T., Olney, A. H., Hunley, T. E. & 12 othersPolat, A. I., Yis, U., Bogdanovic, R., Mitrovic, K., Berry, S. A., Najera, L., Najafian, B., Gentile, M., Nur Semerci, C., Tsimaratos, M., Lewis, D. B. & Boerkoel, C. F., Dec 1 2015, In : Clinical Immunology. 161, 2, p. 355-365 11 p.

Research output: Contribution to journalArticle

Interleukin-7 Receptors
T-Lymphocytes
Interleukin-7
Mutation
Schimke immunoosseous dysplasia
15 Citations (Scopus)

Report of a patient with a constitutional missense mutation in SMARCB1, Coffin-Siris phenotype, and schwannomatosis

Gossai, N., Biegel, J. A., Messiaen, L., Berry, S. A. & Moertel, C. L., Dec 1 2015, In : American Journal of Medical Genetics, Part A. 167, 12, p. 3186-3191 6 p.

Research output: Contribution to journalArticle

Missense Mutation
Phenotype
Neurilemmoma
Mutation
Hirsutism
42 Citations (Scopus)

Returning a Research Participant's Genomic Results to Relatives: Analysis and Recommendations

Wolf, S. M., Branum, R., Koenig, B. A., Petersen, G. M., Berry, S. A., Beskow, L. M., Daly, M. B., Fernandez, C. V., Green, R. C., Leroy, B. S., Lindor, N. M., O'Rourke, P. P., Breitkopf, C. R., Rothstein, M. A., Van Ness, B. & Wilfond, B. S., Sep 1 2015, In : Journal of Law, Medicine and Ethics. 43, 3, p. 440-463 24 p.

Research output: Contribution to journalArticle

Research Personnel
Incidental Findings
Research
Health
5 Citations (Scopus)

Self-reported treatment-associated symptoms among patients with urea cycle disorders participating in glycerol phenylbutyrate clinical trials

Nagamani, S. C. S., Diaz, G. A., Rhead, W., Berry, S. A., Le Mons, C., Lichter-Konecki, U., Bartley, J., Feigenbaum, A., Schulze, A., Longo, N., Berquist, W., Gallagher, R., Bartholomew, D., Harding, C. O., Korson, M. S., McCandless, S. E., Smith, W., Vockley, J., Kronn, D., Zori, R. & 9 othersCederbaum, S., Lawrence Merritt, J., Wong, D., Coakley, D. F., Scharschmidt, B. F., Dickinson, K., Marino, M., Lee, B. H. & Mokhtarani, M., Sep 1 2015, In : Molecular Genetics and Metabolism. 116, 1-2, p. 29-34 6 p.

Research output: Contribution to journalArticle

Inborn Urea Cycle Disorder
Pediatrics
Urea
Scavenging
Clinical Trials
1 Citation (Scopus)
Inborn Urea Cycle Disorder
Body Surface Area
Patient Compliance
Biomarkers
Clinical Trials
2014
54 Citations (Scopus)
Inborn Urea Cycle Disorder
Longitudinal Studies
Urea
Ornithine Carbamoyltransferase Deficiency Disease
Ornithine Carbamoyltransferase
22 Citations (Scopus)
Inborn Urea Cycle Disorder
Ammonia
Urea
Glutamine
Therapeutics
17 Citations (Scopus)
Newborn Infant
Guidelines
Research
Ethical Analysis
National Institute of Child Health and Human Development (U.S.)
168 Citations (Scopus)

Phenylalanine hydroxylase deficiency: Diagnosis and management guideline

Vockley, J., Andersson, H. C., Antshel, K. M., Braverman, N. E., Burton, B. K., Frazier, D. M., Mitchell, J., Smith, W. E., Thompson, B. H. & Berry, S. A., Jan 1 2014, In : Genetics in Medicine. 16, 2, p. 188-200 13 p.

Research output: Contribution to journalArticle

Phenylketonurias
Guidelines
Phenylalanine
Therapeutics
National Institutes of Health (U.S.)
22 Citations (Scopus)

Sodium phenylbutyrate decreases plasma branched-chain amino acids in patients with urea cycle disorders

Burrage, L. C., Jain, M., Gandolfo, L., Lee, B. H., Batshaw, M. L., Tuchman, M., Summar, M. L., Baumgartner, M. R., Berry, S. A., Cederbaum, S., Diaz, G. A., Feigenbaum, A., Gallagher, R. C., Harding, C. O., Hoffmann, G., Kerr, D. S., Lee, B., Lichter-Konecki, U., McCandless, S. E., Merritt, J. L. & 8 othersSchulze, A., Seashore, M. R., Stricker, T., Waisbren, S., Wong, D., Yudkoff, M., Nagamani, S. C. S. & Urea Cycle Disorders Consortium, Sep 1 2014, In : Molecular Genetics and Metabolism. 113, 1, p. 131-135 5 p.

Research output: Contribution to journalArticle

Inborn Urea Cycle Disorder
Branched Chain Amino Acids
Urea
Plasmas
Metabolism
2013
47 Citations (Scopus)
Inborn Urea Cycle Disorder
Ammonia
Pediatrics
Executive Function
glycerol phenylbutyrate
30 Citations (Scopus)

Ammonia control in children ages 2 months through 5 years with urea cycle disorders: Comparison of sodium phenylbutyrate and glycerol phenylbutyrate

Smith, W., Diaz, G. A., Lichter-Konecki, U., Berry, S. A., Harding, C. O., McCandless, S. E., LeMons, C., Mauney, J., Dickinson, K., Coakley, D. F., Moors, T., Mokhtarani, M., Scharschmidt, B. F. & Lee, B., Jan 1 2013, In : Journal of Pediatrics. 162, 6

Research output: Contribution to journalArticle

Inborn Urea Cycle Disorder
Ammonia
Argininosuccinic Aciduria
Argininosuccinic Acid
Hyperargininemia
20 Citations (Scopus)

Elevated phenylacetic acid levels do not correlate with adverse events in patients with urea cycle disorders or hepatic encephalopathy and can be predicted based on the plasma PAA to PAGN ratio

Mokhtarani, M., Diaz, G. A., Rhead, W., Berry, S. A., Lichter-Konecki, U., Feigenbaum, A., Schulze, A., Longo, N., Bartley, J., Berquist, W., Gallagher, R., Smith, W., McCandless, S. E., Harding, C., Rockey, D. C., Vierling, J. M., Mantry, P., Ghabril, M., Brown, R. S., Dickinson, K. & 8 othersMoors, T., Norris, C., Coakley, D., Milikien, D. A., Nagamani, S. C., LeMons, C., Lee, B. & Scharschmidt, B. F., Jan 1 2013, In : Molecular Genetics and Metabolism. 110, 4, p. 446-453 8 p.

Research output: Contribution to journalArticle

Inborn Urea Cycle Disorder
Hepatic Encephalopathy
Urea
Plasmas
phenylacetic acid
8 Citations (Scopus)

Insurance coverage of medical foods for treatment of inherited metabolic disorders

Berry, S. A., Kenney, M. K., Harris, K. B., Singh, R. H., Cameron, C. A., Kraszewski, J. N., Levy-Fisch, J., Shuger, J. F., Greene, C. L., Lloyd-Puryear, M. A. & Boyle, C. A., Dec 1 2013, In : Genetics in Medicine. 15, 12, p. 978-982 5 p.

Research output: Contribution to journalArticle

Insurance Coverage
Food
Therapeutics
Proteins
Dietary Supplements
16 Citations (Scopus)

Population pharmacokinetic modeling and dosing simulations of nitrogen-scavenging compounds: Disposition of glycerol phenylbutyrate and sodium phenylbutyrate in adult and pediatric patients with urea cycle disorders

Monteleone, J. P. R., Mokhtarani, M., Diaz, G. A., Rhead, W., Lichter-Konecki, U., Berry, S. A., Mons, C. L., Dickinson, K., Coakley, D., Lee, B. & Scharschmidt, B. F., Jul 1 2013, In : Journal of Clinical Pharmacology. 53, 7, p. 699-710 12 p.

Research output: Contribution to journalArticle

Inborn Urea Cycle Disorder
Nitrogen Compounds
Pharmacokinetics
Pediatrics
Population
2012
1 Citation (Scopus)

The quality of metabolic newborn screening specialty care services: results of a survey of primary care providers.

Anderson, C. S., Bentler, K., Vanderburg, N. & Berry, S. A., Oct 1 2012, In : Minnesota Medicine. 95, 10, p. 45-49 5 p.

Research output: Contribution to journalArticle

Inborn Errors Metabolism
Primary Health Care
Newborn Infant
Communication
Physician Assistants
20 Citations (Scopus)

Urinary phenylacetylglutamine as dosing biomarker for patients with urea cycle disorders

Mokhtarani, M., Diaz, G. A., Rhead, W., Lichter-Konecki, U., Bartley, J., Feigenbaum, A., Longo, N., Berquist, W., Berry, S. A., Gallagher, R., Bartholomew, D., Harding, C. O., Korson, M. S., McCandless, S. E., Smith, W., Vockley, J., Bart, S., Kronn, D., Zori, R., Cederbaum, S. & 10 othersDorrani, N., Merritt, J. L., Sreenath-Nagamani, S., Summar, M., LeMons, C., Dickinson, K., Coakley, D. F., Moors, T. L., Lee, B. & Scharschmidt, B. F., Nov 1 2012, In : Molecular Genetics and Metabolism. 107, 3, p. 308-314 7 p.

Research output: Contribution to journalArticle

Inborn Urea Cycle Disorder
Biomarkers
Urea
Acids
Plasmas
2011
3 Citations (Scopus)
WAGR Syndrome
Urogenital Abnormalities
Aniridia
Chromosome Duplication
Genetic Counseling
18 Citations (Scopus)

Evaluation of newborn screening bloodspot-based genetic testing as second tier screen for bedside newborn hearing screening

Schimmenti, L. A., Warman, B., Schleiss, M. R., Daly, K. A., Ross, J. A., McCann, M., Jurek, A. M. & Berry, S. A., Dec 1 2011, In : Genetics in Medicine. 13, 12, p. 1006-1010 5 p.

Research output: Contribution to journalArticle

Genetic Testing
Hearing
Newborn Infant
Alleles
Mutation
49 Citations (Scopus)

Exome sequencing identifies ACSF3 as a cause of combined malonic and methylmalonic aciduria

Sloan, J. L., Johnston, J. J., Manoli, I., Chandler, R. J., Krause, C., Carrillo-Carrasco, N., Chandrasekaran, S. D., Sysol, J. R., O'Brien, K., Hauser, N. S., Sapp, J. C., Dorward, H. M., Huizing, M., Barshop, B. A., Berry, S. A., James, P. M., Champaigne, N. L., De Lonlay, P., Valayannopoulos, V., Geschwind, M. D. & 4 othersGavrilov, D. K., Nyhan, W. L., Biesecker, L. G. & Venditti, C. P., Sep 1 2011, In : Nature Genetics. 43, 9, p. 883-886 4 p.

Research output: Contribution to journalArticle

Exome
Mutation
Coenzyme A Ligases
Gene Frequency
Canidae
2010
27 Citations (Scopus)
Comparative Genomic Hybridization
Megalencephaly
Microcephaly
Developmental Disabilities
Fluorescence In Situ Hybridization
10 Citations (Scopus)
Carnitine
Heterozygote
Mothers
Fatty Acids
Newborn Infant
9 Citations (Scopus)

Long-term follow-up of newborn screening patients

Berry, S. A., Lloyd-Puryear, M. A. & Watson, M. S., Dec 1 2010, In : Genetics in Medicine. 12, 12 SUPPL

Research output: Contribution to journalArticle

United States Health Resources and Services Administration
National Institute of Child Health and Human Development (U.S.)
Newborn Infant
Inborn Errors Metabolism
Centers for Disease Control and Prevention (U.S.)
51 Citations (Scopus)

Phase 2 comparison of a novel ammonia scavenging agent with sodium phenylbutyrate in patients with urea cycle disorders: Safety, pharmacokinetics and ammonia control

Lee, B., Rhead, W., Diaz, G. A., Scharschmidt, B. F., Mian, A., Shchelochkov, O., Marier, J. F., Beliveau, M., Mauney, J., Dickinson, K., Martinez, A., Gargosky, S., Mokhtarani, M. & Berry, S. A., Jul 1 2010, In : Molecular Genetics and Metabolism. 100, 3, p. 221-228 8 p.

Research output: Contribution to journalArticle

Inborn Urea Cycle Disorder
Pharmacokinetics
Scavenging
Ammonia
Urea
9 Citations (Scopus)
Inborn Errors Metabolism
Information Systems
Registries
Informed Consent
Therapeutics
2009
11 Citations (Scopus)

High incidence of profound biotinidase deficiency detected in newborn screening blood spots in the Somalian population in Minnesota

Sarafoglou, K. M., Bentler, K., Gaviglio, A., Redlinger-Grosse, K. A., Anderson, C., McCann, M., Bloom, B., Babovic-Vuksanovic, D., Gavrilov, D. & Berry, S. A., Jan 1 2009, In : Journal of Inherited Metabolic Disease. 32, SUPPL. 1

Research output: Contribution to journalArticle

Biotinidase Deficiency
Newborn Infant
Incidence
Population
Mutation