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Massachusetts' Findings from Statewide Newborn Screening for Spinal Muscular Atrophy.
Hale JE, Darras BT, Swoboda KJ, Estrella E, Chen JYH, Abbott MA, Hay BN, Kumar B, Counihan AM, Gerstel-Thompson J, Sahai I, Eaton RB, Comeau AM. Hale JE, et al. Among authors: hay bn. Int J Neonatal Screen. 2021 May 23;7(2):26. doi: 10.3390/ijns7020026. Int J Neonatal Screen. 2021. PMID: 34071063 Free PMC article.
Ten Years of Newborn Screening for Severe Combined Immunodeficiency (SCID) in Massachusetts.
Hale JE, Platt CD, Bonilla FA, Hay BN, Sullivan JL, Johnston AM, Pasternack MS, Hesterberg PE, Meissner HC, Cooper ER, Barmettler S, Farmer JR, Fisher D, Walter JE, Yang NJ, Sahai I, Eaton RB, DeMaria A, Notarangelo LD, Pai SY, Comeau AM. Hale JE, et al. Among authors: hay bn. J Allergy Clin Immunol Pract. 2021 May;9(5):2060-2067.e2. doi: 10.1016/j.jaip.2021.02.006. Epub 2021 Feb 16. J Allergy Clin Immunol Pract. 2021. PMID: 33607339 Free PMC article.
Newborn screening for severe combined immunodeficiency in 11 screening programs in the United States.
Kwan A, Abraham RS, Currier R, Brower A, Andruszewski K, Abbott JK, Baker M, Ballow M, Bartoshesky LE, Bonilla FA, Brokopp C, Brooks E, Caggana M, Celestin J, Church JA, Comeau AM, Connelly JA, Cowan MJ, Cunningham-Rundles C, Dasu T, Dave N, De La Morena MT, Duffner U, Fong CT, Forbes L, Freedenberg D, Gelfand EW, Hale JE, Hanson IC, Hay BN, Hu D, Infante A, Johnson D, Kapoor N, Kay DM, Kohn DB, Lee R, Lehman H, Lin Z, Lorey F, Abdel-Mageed A, Manning A, McGhee S, Moore TB, Naides SJ, Notarangelo LD, Orange JS, Pai SY, Porteus M, Rodriguez R, Romberg N, Routes J, Ruehle M, Rubenstein A, Saavedra-Matiz CA, Scott G, Scott PM, Secord E, Seroogy C, Shearer WT, Siegel S, Silvers SK, Stiehm ER, Sugerman RW, Sullivan JL, Tanksley S, Tierce ML 4th, Verbsky J, Vogel B, Walker R, Walkovich K, Walter JE, Wasserman RL, Watson MS, Weinberg GA, Weiner LB, Wood H, Yates AB, Puck JM, Bonagura VR. Kwan A, et al. Among authors: hay bn. JAMA. 2014 Aug 20;312(7):729-38. doi: 10.1001/jama.2014.9132. JAMA. 2014. PMID: 25138334 Free PMC article.
Townes-Brocks syndrome: twenty novel SALL1 mutations in sporadic and familial cases and refinement of the SALL1 hot spot region.
Botzenhart EM, Bartalini G, Blair E, Brady AF, Elmslie F, Chong KL, Christy K, Torres-Martinez W, Danesino C, Deardorff MA, Fryns JP, Marlin S, Garcia-Minaur S, Hellenbroich Y, Hay BN, Penttinen M, Shashi V, Terhal P, Van Maldergem L, Whiteford ML, Zackai E, Kohlhase J. Botzenhart EM, et al. Among authors: hay bn. Hum Mutat. 2007 Feb;28(2):204-5. doi: 10.1002/humu.9476. Hum Mutat. 2007. PMID: 17221874