M. Baker

发表

Vaccine‐associated varicella and rubella infections in severe combined immunodeficiency with isolated CD4 lymphocytopenia and mutations in IL7R detected by tandem whole exome sequencing and chromosomal microarray

Magalie S Leduc, Ankita Patel, C. Shaw, 2014, Clinical and experimental immunology.

Enhanced interpretation of newborn screening results without analyte cutoff values

Vagelis Papakonstantinou, Giuseppe Giordano, Yin-Hsiu Chien, 2012, Genetics in Medicine.

Newborn Screening for Severe Combined Immunodeficiency in 11 Screening Programs in the United States

E. Brooks, J. Orange, M. Watson, 2015, Pediatrics.

Statewide newborn screening for severe T-cell lymphopenia.

R. Laessig, W. Grossman, J. Verbsky, 2009, JAMA.

Newborn Screening for Severe Combined Immunodeficiency; The Wisconsin Experience (2008–2011)

W. Grossman, J. Verbsky, Sreelatha T. Reddy, 2011, Journal of Clinical Immunology.

Newborn Screen for X-Linked Adrenoleukodystrophy Using Flow Injection Tandem Mass Spectrometry in Negative Ion Mode

C. Haynes, Brian J. Conti, M. Baker, 2022, International journal of neonatal screening.

Data-driven phenotype discovery of FMR1 premutation carriers in a population-based sample

R. Stewart, Krishanu Saha, M. Brilliant, 2019, Science Advances.

Maternal periconceptional vitamin use, genetic variation of infant reduced folate carrier (A80G), and risk of spina bifida.

G. Shaw, R. Finnell, E. Neri, 2002, American journal of medical genetics.

Changing incidence of cystic fibrosis in Wisconsin, USA

P. Simpson, M. Nugent, M. Rock, 2015, Pediatric pulmonology.

Genetic and Environmental Influences on Self-Reported Cognitive Functioning: Associations of Diverse Measures of Stress across the FMR1 CGG Repeat Range

M. Brilliant, Jinkuk Hong, N. Maltman, 2020 .

Newborn Screening for Severe Combined Immunodeficiency: 10-Year Experience at a Single Referral Center (2009–2018)

A. Joshi, C. Seroogy, M. Baker, 2021, Journal of Clinical Immunology.

Novel mutation in TP63 associated with ectrodactyly ectodermal dysplasia and clefting syndrome and T cell lymphopenia

P. Giampietro, C. Seroogy, Julie R. Jones, 2013, American journal of medical genetics. Part A.

Development of a routine newborn screening protocol for severe combined immunodeficiency.

R. Laessig, W. Grossman, M. Katcher, 2009, The Journal of allergy and clinical immunology.

Universal Newborn Screening for Severe Combined Immunodeficiency in Wisconsin

R. Laessig, W. Grossman, J. Verbsky, 2010 .

Multiplexed Genetic Analysis Using an Expanded Genetic Alphabet

Eric B. Roesch, S. Benner, R. Laessig, 2004, Clinical chemistry.

Implementing Routine Testing for Severe Combined Immunodeficiency within Wisconsin's Newborn Screening Program

R. Laessig, W. Grossman, J. Verbsky, 2010, Public health reports.

Newborn screening for spinal muscular atrophy: The Wisconsin first year experience

J. Kwon, Amy E. Wiberley-Bradford, M. Baker, 2021, Neuromuscular Disorders.

Maximizing the Benefit of Life-Saving Treatments for Pompe Disease, Spinal Muscular Atrophy, and Duchenne Muscular Dystrophy Through Newborn Screening: Essential Steps.

R. Finkel, B. Byrne, R. Griggs, 2019, JAMA neurology.

Optimal DNA tier for the IRT/DNA algorithm determined by CFTR mutation results over 14 years of newborn screening.

P. Farrell, M. Rock, H. Levy, 2011, Journal of cystic fibrosis : official journal of the European Cystic Fibrosis Society.

Progress in treatment and newborn screening for Duchenne muscular dystrophy and spinal muscular atrophy

R. Griggs, J. Mendell, A. Connolly, 2019, World Journal of Pediatrics.

Genotypes of patients with phenylalanine hydroxylase deficiency in the Wisconsin Amish

M. Baker, J. S. Schwoerer, Nicoletta Drilias, 2018, Molecular genetics and metabolism reports.

Treatment Discontinuation within 3 Years of Levothyroxine Initiation among Children Diagnosed with Congenital Hypothyroidism.

A. Kemper, S. Grosse, S. K. Shapira, 2020, The Journal of pediatrics.

Treatment Discontinuation by 3 Years After Levothyroxine Initiation among Children Diagnosed with Congenital Hypothyroidism

A. Kemper, S. Grosse, S. K. Shapira, 2020 .

Prevalence of CGG expansions of the FMR1 gene in a US population‐based sample

J. Greenberg, M. Seltzer, Jinkuk Hong, 2012, American journal of medical genetics. Part B, Neuropsychiatric genetics : the official publication of the International Society of Psychiatric Genetics.

FMR1 CGG Repeats and Stress Influence Self-Reported Cognitive Functioning in Mothers.

M. Brilliant, Jinkuk Hong, N. Maltman, 2022, American journal on intellectual and developmental disabilities.

Cause of Death in Neonates with Inconclusive or Abnormal T-cell Receptor Excision Circle Assays on Newborn Screening

J. Verbsky, C. Brokopp, M. Baker, 2011, Journal of Clinical Immunology.

T-cell Receptor Excision Circles of Newborns Are Associated with Gestational Age: Data from Wisconsin Newborn Screening for Severe Combined Immunodeficiency

M. Lindstrom, W. Grossman, C. Seroogy, 2011 .

FMR1 genotype interacts with parenting stress to shape health and functional abilities in older age

J. Greenberg, P. Rathouz, Jinkuk Hong, 2017, American journal of medical genetics. Part B, Neuropsychiatric genetics : the official publication of the International Society of Psychiatric Genetics.

Clinical validation of cutoff target ranges in newborn screening of metabolic disorders by tandem mass spectrometry: A worldwide collaborative project

Gary L Hoffman, Alicia Roberts, Stephen M Downs, 2011, Genetics in Medicine.

Microarray analysis of retinoid‐dependent gene activity during rat embryogenesis: Increased collagen fibril production in a model of retinoid insufficiency

J. Lough, S. Power, Susan M. Smith, 2004, Developmental dynamics : an official publication of the American Association of Anatomists.

Carrier frequency estimation of Zellweger spectrum disorder using ExAC database and bioinformatics tools

C. Engelman, Z. Ye, Derek M. Pavelec, 2019, Genetics in Medicine.

Development of an assay to simultaneously measure orotic acid, amino acids, and acylcarnitines in dried blood spots.

V. D. De Jesús, C. Haynes, M. Baker, 2014, Clinica chimica acta; international journal of clinical chemistry.

iPSC-derived forebrain neurons from FXS individuals show defects in initial neurite outgrowth.

T. Gómez, L. Abbeduto, Matthew E Doers, 2014, Stem cells and development.

The Impact of the CFTR Gene Discovery on Cystic Fibrosis Diagnosis, Counseling, and Preventive Therapy

P. Farrell, M. Rock, M. Baker, 2020, Genes.

CGG Repeats in the 5’UTR of FMR1 RNA Regulate Translation of Other RNAs Localized in the Same RNA Granules

M. Li, G. Korza, J. Carson, 2016, PloS one.

Refinement of newborn screening for cystic fibrosis with next generation sequencing

P. Farrell, M. Rock, M. Baker, 2022, Pediatric pulmonology.

Improving newborn screening for cystic fibrosis using next-generation sequencing technology: a technical feasibility study

P. Farrell, S. Cordovado, M. Hendrix, 2015, Genetics in Medicine.

Translating Molecular Technologies into Routine Newborn Screening Practice

M. Durkin, M. Baker, Sarah M Furnier, 2020, International journal of neonatal screening.

Thyroid Hormone Function in Small for Gestational Age Term Newborns.

J. Eickhoff, D. Allen, M. Baker, 2021, The Journal of pediatrics.

Thyroid-Stimulating Hormone Reference Ranges for Preterm Infants

J. Eickhoff, D. Allen, M. Baker, 2019, Pediatrics.

Increased Congenital Hypothyroidism Detection in Preterm Infants with Serial Newborn Screening.

J. Eickhoff, D. Allen, M. Baker, 2018, The Journal of pediatrics.

Interpreting low T-cell receptor excision circles in newborns with DiGeorge anomaly: importance of assessing naive T-cell markers.

M. Markert, M. Baker, A. Knutsen, 2011, The Journal of allergy and clinical immunology.

FMR1 CGG expansions: Prevalence and sex ratios

K. Broman, M. Brilliant, E. McPherson, 2013, American journal of medical genetics. Part B, Neuropsychiatric genetics : the official publication of the International Society of Psychiatric Genetics.

Newborn Screening for Severe Combined Immunodeficiency: Do Preterm Infants Require Special Consideration?

M. Baker, A. Atkins, M. Cogley, 2021, International journal of neonatal screening.

Development of filter paper hemoglobin A1c assay applicable to newborn screening.

J. Eickhoff, D. Wiebe, D. Allen, 2016, Clinica chimica acta; international journal of clinical chemistry.

NewSTEPs: The Establishment of a National Newborn Screening Technical Assistance Resource Center

M. Sontag, Sikha Singh, Thalia Wood, 2017, International journal of neonatal screening.

FMR1 Low Zone CGG Repeats: Phenotypic Associations in the Context of Parenting Stress

M. Brilliant, J. Greenberg, P. Rathouz, 2020, Frontiers in Pediatrics.

Prevalence and mutation analysis of short/branched chain acyl-CoA dehydrogenase deficiency (SBCADD) detected on newborn screening in Wisconsin.

Susan A. Jones, M. Durkin, J. Vockley, 2013, Molecular genetics and metabolism.

Newborn Screening for Inherited Metabolic Disorders: Early Identification and Long-Term Care for Patients in the Plain Community, Wisconsin, 2011-2017

G. Rice, C. Seroogy, Gretchen Spicer, 2019, Public health reports.

Newborn Screening for Severe Combined Immunodeficiency; The Wisconsin Experience (2008–2011)

W. Grossman, J. Verbsky, Sreelatha T. Reddy, 2012, Journal of Clinical Immunology.

Newborn Screening for Severe Combined Immunodeficiency Using the Multiple of the Median Values of T-Cell Receptor Excision Circles

M. Baker, M. Cogley, S. Mochal, 2021, International journal of neonatal screening.

Newborn Screening for Severe Combined Immunodeficiency: 10-Year Experience at a Single Referral Center (2009–2018)

A. Joshi, C. Seroogy, M. Baker, 2021, Journal of Clinical Immunology.

Development of carrier testing for common inborn errors of metabolism in the Wisconsin Plain population

G. Rice, C. Seroogy, M. Baker, 2016, Genetics in Medicine.

Low-normal FMR1 CGG repeat length: phenotypic associations

J. Greenberg, P. Rathouz, Jinkuk Hong, 2014, Front. Genet..

Refining the continuum of CFTR‐associated disorders in the era of newborn screening

S. McColley, P. Farrell, M. Nugent, 2016, Clinical genetics.

Lack of association between gestational age adjusted TSH percentiles and neurodevelopmental outcomes among preterm infants.

J. Eickhoff, D. Allen, M. Baker, 2022, Journal of neonatal-perinatal medicine.

Is FMR1 CGG Repeat Number Polymorphism Associated With Phenotypic Variation in the General Population? Report From a Cohort of 5,499 Adults

Jinkuk Hong, E. Berry-Kravis, M. Mailick, 2021, Frontiers in Psychiatry.

Shaw GM, Lammer EJ, Huiping Z, Wang Baker M, Neri E, Finnell RH. 2002. Maternal preconceptual vitamin use, genetic variation of infant reduced folate carrier (A80G), and risk of spina bifida. Am J Med Genet 108:1–6.

G. Shaw, R. Finnell, E. Neri, 2002 .

Newborn screening for severe combined immunodeficiency in 11 screening programs in the United States.

M. Watson, L. Notarangelo, J. Walter, 2014, JAMA.

Is Low FMR1 CGG Repeat Length in Males Correlated with Family History of BRCA-Associated Cancers? An Exploratory Analysis of Medical Records

M. Brilliant, E. Petty, Jinkuk Hong, 2017, Journal of Genetic Counseling.

Health Profiles of Mosaic Versus Non-mosaic FMR1 Premutation Carrier Mothers of Children With Fragile X Syndrome

M. Brilliant, J. Greenberg, P. Rathouz, 2018, Front. Genet..

Mortality in Women across the FMR1 CGG Repeat Range: The Neuroprotective Effect of Higher Education

Jinkuk Hong, E. Berry-Kravis, R. Dembo, 2023, Cells.

Clinical validation of cutoff target ranges in newborn screening of metabolic disorders by tandem mass spectrometry: A worldwide collaborative project

M. Seashore, F. Bamforth, Y. Chien, 2011, Genetics in Medicine.

Is Low FMR1 CGG Repeat Length in Males Correlated with Family History of BRCA-Associated Cancers? An Exploratory Analysis of Medical Records

M. Brilliant, E. Petty, Jinkuk Hong, 2017, Journal of Genetic Counseling.

Cystic fibrosis screen‐positive neonates with one pathogenic variant still warrant sweat testing

P. Farrell, M. Baker, Michael J. Rock, 2023, Pediatric pulmonology.

Missed Cystic Fibrosis Newborn Screening Cases due to Immunoreactive Trypsinogen Levels below Program Cutoffs: A National Survey of Risk Factors

M. Caggana, A. Comeau, B. Therrell, 2022, International Journal of Neonatal Screening.

Correction: Furnier et al. Translating Molecular Technologies into Routine Newborn Screening Practice. Int. J. Neonatal Screen. 2020, 6, 80

M. Durkin, M. Baker, Sarah M. Furnier, 2021, International Journal of Neonatal Screening.

Thyroid-stimulating hormone reference ranges for moderate-to-late preterm infants

J. Eickhoff, D. Allen, M. Baker, 2020, Journal of Perinatology.

Common Challenges and Identified Solutions for State Newborn Screening Programs during COVID-19 Pandemic

Norma P. Tavakoli, A. Gaviglio, M. Baker, 2022, International journal of neonatal screening.