Peer-reviewed Publications

Publications from our Supplemental Projects

National survey of providers treating patients with metabolic disorders identified by newborn screening demonstrates challenges faced by clinical care systems

Link to article in PubMed

McClain MR, McGrath R, Stransky ML, Benkendorf JL.; Clin Pediatr, in press.

New "First Families": The Psychosocial Impact of New Genetic Technologies

link to Genetics in Medicine   The NEGC supported this special commentary by Dr. Joanna Fanos of Dartmouth-Hitchcock Medical Center. It was published Genetics in Medicine in February, 2012 (Vol. 14, no. 2)

Potential Impact of Genomic Information on Childhood Sibling Relationships

This chapter in Handbook of Genomics and the Family, Issues in Clinical Child Psychology (DOI 10.1007/978-1-4419-5800-6_6), is by lead author Joanna Fanos, Dartmouth Medical School, with support of the NEGC (2010). Other authors are Lori Wiener, NIH, and Tara Brennan, Children's National Medical Center.

Springer, the publisher, provides access to the chapter online. Click here to read the online version.

National profile of children with Down Syndrome: disease burden, access to care, and family impact

PubMed link.  Authors: McGrath RJ, Stransky ML, Cooley WC, Moeschler JB.  Journal of Pediatrics, June 2011.

Congenital hypothyroidism with a delayed thyroid-stimulating hormone elevation in very premature infants: incidence and growth and developmental outcomes

PubMed link. Authors: Woo HC, Lizarda A, Tucker R, Mitchell ML, Vohr B, Oh W, Phornphutkul C.  J Pediatr. 2011;158(4):538-42.

This project was supported by the NEGC through an Innovative Project award to Dr. Chanika Phornphutkul in 2008.

Quality Improvement Publications

Comprehensive Evaluation of the Child with Intellectual Disability or Global Developmental Delays

Link to article in PubMed

John B. Moeschler, MD, MS, FAAP, FACMG, Michael Shevell, MDCM, FRCP, COMMITTEE on GENETICS. Pediatrics, August 25, 2014 released online.


The metabolic evaluation of the child with an intellectual developmental disorder: Diagnostic algorithm for identification of treatable causes and new digital resource

Link to article in PubMed

van Karnebeek CD, Shevell M, Zschocke J, Moeschler JB, Stockler S.   Mol Genet Metab 2014 Jan 24; PMID: 24518794

Access to Genetic Counseling for Children with Autism, Down Syndrome, and Intellectual Disabilities

 link by Robert McGrath, David Laflamme, John Moeschler, Amy Schwartz, and Michelle Stransky; published in Pediatrics (December 2009)

Improving genetic health care: A Northern New England pilot project addressing the genetic evaluation of the child with developmental delays or intellectual disability

link by John Moeschler, Stephen Amato, Thomas Brewster, Leah Burke, Mary Beth Dinulos, Rosemarie Smith, Wendy Smith and Patrick Miller; published online June 20, 2009

Medical genetics diagnostic evaluation of the child with global developmental delay or intellectual disability

link John B. Moeschler; Current Opinion in Neurology 2008; 21:117-122

Medical Home Publications

A survey of the preferences of primary care physicians regarding the co-management with specialists of children with rare or complex conditions

Link to article in Clinical Pediatrics

McClain MR, Cooley WC, Keirns T, Smith A. Clinical Pediatrics, 2014, 53:562-6. 

Parent Partnerships in Communication and Decision Making about Subspecialty Referrals for Children with Special Needs

Stille CJ, Fischer SH, LaPelle N, Dworetzky B, Mazor KM, Cooley WC. Parent partnerships in communication and decision making about subspecialty referrals for children with special needs. Academic Pediatrics, 2013 Jan 25. 


An Approach to Family-Centered Coordinated Co-management for Individuals with Conditions Identified through Newborn Screening.

Link  by Cooley WC, Kemper AR, NCC Medical Home Workgroup; Genetics in Medicine, 2012

Improved Outcomes Associated with Medical Home Implementation in Pediatric Primary Care

link  by Carl Cooley, MD; Jeanne McAllister, BSN, MS, MHA; Kathleen Sherribe, DrPH, MS; and Karen Kuhlthau, PhD; Pediatrics, 2009. Conclusions (from abstract): "Developing an evidence base for the value of the primary care medical home has importance for providers, payers, policy makers, and consumers. Reducing hospitalizations through enhanced primary care provides a potential case for new reimbursement strategies supporting medical home services such as care coordination. Larger-scale studies are needed to further develop/examine these relationships."

Medical Home 2009: what it is, where we were and where we are today

link by Homer, CJ; Cooley, WC; Strickland, BB; Pediatric Annals. 2009;38(483-490)

Long Term Follow-Up Publications

A framework for key considerations regarding point-of-care screening of newborns

Link by Kemper AR, Kus CA, Ostrander RA, Comeau AM, Boyle CA, Dougherty D, Mann MY, Botkin JR, Green NS, Genetics in Medicine, 2012 Nov;130:e1269-77.

Long-term follow-up to ensure quality care of individuals diagnosed with newborn screening conditions: early experience in New England

link Sahai I, Eaton RB, Hale JE, Mulcahy EA, Comeau AM. Genet Med. 2010;12(12 Suppl):S220-7.

Cystic fibrosis newborn screening: using experience to optimize the screening algorithm

link Hale JE, Parad RB, Dorkin HL, et al.  J Inherit Metab Dis. 2010;33(Suppl 2):S255-61.

Population-based research within a public health system; two models for common rule compliance in the Massachusetts Newborn Screening Program

Comeau, Anne, PhD & Levin, D.; M. Bailey & T. Murray (Eds); Ethics and newborn genetics screening: new technologies, new challenges. Baltimore, MD: John Hopkins Press. 2009

Oropharyngeal flora in healthy infants: observations and implications for cystic fibrosis care

link  by Carlson D., McKeen E., Mitchell M., Torres B., Parad R., Comeau A.M., O'sullivan B.P.; Pediatric Pulmonology 2009 May; 44(5):497-502

Newborn Screening Showing Decreasing Incidence of Cystic Fibrosis

link  by JE Hale, RB Parad & Anne Comeau, New England Journal of Medicine, 2008,358:9:973-974 (Correspondence)

Spectrum of Medium Chain Acyl-CoA Dehydrogenase (MCAD) Deficiency detected by newborn screening.

 link  Hsu H-W, Zytkovicz TH, Comeau, AM, Strauss AW, Marsden D, Shih VE, Grady GF and Eaton RB, Pediatrics, 2008;121:e1108-e1114

Transition Publications

Parents are interested in newborn genomic testing during the early postpartum period

Link to article in PubMed

Waisbren SE, Back DK, Liu C, Kalia SS, Ringer SA, Holm IA, Green RC. Genet Med. 2014 Dec 4 epub

The adult galactosemic phenotype.

Link by Waisbren SE, Potter NL, Gordon CM, Green RC, Greenstein P, Gubbels CS, Rubio-Gozalbo E, Schomer D, Welt C, Anastasoaie V, D'Anna K, Gentile J, Guo CY, Hecht L, Jackson R, Jansma BM, Li Y, Lip V, Miller DT, Murray M, Power L, Quinn N, Rohr F, Shen Y, Skinder-Meredith A, Timmers I, Tunick R, Wessel A, Wu BL, Levy H, Elsas L, Berry GT . J Inherit Metab Dis. 2012 Mar;35(2):279-86. Epub 2011 Jul 21. PubMed PMID: 21779791.

Psychosocial developmental milestones in men with classic galactosemia.

Link by Gubbels CS, Maurice-Stam H, Berry GT, Bosch AM, Waisbren S, Rubio-Gozalbo ME, Grootenhuis MA. J Inherit Metab Dis. 2011 Apr;34(2):415-9. Epub 2011 Feb 25. PubMed PMID: 21350966; PubMed Central PMCID: PMC3112026.

Psychosocial issues and outcomes in maternal PKU

 link Susan Waisbren, Richard Koch, Friedrich Trefz
Molecular Genetics and Metabolism, 2010, Volume 99, Supplement 1; Pages S68-S74

Final commentary: A new chapter

link D.A. White, S. Waisbren, F.J. van Spronsen
Molecular Genetics and Metabolism, Volume 99, Supplement 1, 2010, Pages S106-S107

Psychiatric symptoms and disorders in phenylketonuria

link V.L. Brumm, D. Bilder, S.E. Waisbren
Molecular Genetics and Metabolism, Volume 99, Supplement 1, 2010, Pages S59-S63

Screening for cognitive and social–emotional problems in individuals with PKU: Tools for use in the metabolic clinic

link S. Waisbren, D.A. White 
Molecular Genetics and Metabolism, Volume 99, Supplement 1, 2010, Pages S96-S99 

The psychology and neuropathology of phenylketonuria.

Link by White DA, Waisbren S, van Spronsen FJ. Mol Genet Metab. 2010;99(Suppl 1):S1-2.

Short-chain acyl-CoA dehydrogenase (SCAD) deficiency: an examination of the medical and neurodevelopmental characteristics of 14 cases identified through newborn screening or clinical symptoms.

Link by Waisbren SE, Levy HL, Noble M, et al. Mol Genet Metab. Sep-Oct 2008;95(1-2):39-45.

Expanded newborn screening: information and resources for the family physician

Link by Waisbren SE. Am Fam Physician. Apr 1 2008;77(7):987-994.

Parental tolerance of false-positive newborn screening results.

Link by Prosser LA, Ladapo JA, Rusinak D, Waisbren SE. Arch Pediatr Adolesc Med. Sep 2008;162(9):870-876.

Stability of blood phenylalanine levels and IQ in children with phenylketonuria.

Link by Anastasoaie V, Kurzius L, Forbes P, Waisbren S. Mol Genet Metab. Sep-Oct 2008;95(1-2):17-20.

Quality Assurance Publications

The increased incidence of congenital hypothyroidism: Fact or fancy?

Link By Mitchell, M.L., Hsu, H.W., Sahai, I., & Massachusetts Pediatric Endocrine Work Group Clinical Endocrinology, 2011;75(6), 806-10

A near-miss: very long chain acyl-CoA dehydrogenase deficiency with normal primary markers in the initial well-timed newborn screening specimen.

Link by Sahai, I., Bailey, J.C., Eaton, R.B., Zytkovicz, T., & Harris, D.J. Journal of Pediatrics, 2011;1(1), 172.

Spectrum of Medium Chain Acyl-CoA Dehydrogenase (MCAD) Deficiency detected by newborn screening.

link  by Hsu H-W, Zytkovicz TH, Comeau, AM, Strauss AW, Marsden D, Shih VE, Grady GF and Eaton RB; Pediatrics, 2008;121:e1108-e1114