Pilot study of population-based newborn screening for spinal muscular atrophy in New York state

[1]  M. Muckenthaler,et al.  Newborn screening for severe combined immunodeficiency using a novel and simplified method to measure T-cell excision circles (TREC). , 2017, Clinical immunology.

[2]  F. Tassone,et al.  Identification of a male with fragile X syndrome through newborn screening. , 2015, Intractable & rare diseases research.

[3]  Matthew J. Nichols,et al.  Cost-effective and scalable DNA extraction method from dried blood spots. , 2013, Clinical chemistry.

[4]  J. Botkin,et al.  Public attitudes regarding a pilot study of newborn screening for spinal muscular atrophy , 2013, American journal of medical genetics. Part A.

[5]  Kushol Gupta,et al.  The survival motor neuron protein forms soluble glycine zipper oligomers. , 2012, Structure.

[6]  P. Kostense,et al.  Public support for neonatal screening for Pompe disease, a broad-phenotype condition , 2012, Orphanet Journal of Rare Diseases.

[7]  W. Chung,et al.  Validation of the Expanded Hammersmith Functional Motor Scale in Spinal Muscular Atrophy Type II and III , 2011, Journal of child neurology.

[8]  N. Nagan,et al.  Pan-ethnic carrier screening and prenatal diagnosis for spinal muscular atrophy: clinical laboratory analysis of >72 400 specimens , 2011, European Journal of Human Genetics.

[9]  Hung Li,et al.  Carrier Screening for Spinal Muscular Atrophy (SMA) in 107,611 Pregnant Women during the Period 2005–2009: A Prospective Population-Based Cohort Study , 2011, PloS one.

[10]  D. Pearl,et al.  Newborn and carrier screening for spinal muscular atrophy , 2010, American journal of medical genetics. Part A.

[11]  Jamie W. Sinton,et al.  Spinal muscular atrophy , 2010, Journal of the Neurological Sciences.

[12]  Y. Hua,et al.  A positive modifier of spinal muscular atrophy in the SMN2 gene. , 2009, American journal of human genetics.

[13]  T. Scholl,et al.  Differences in SMN1 allele frequencies among ethnic groups within North America , 2009, Journal of Medical Genetics.

[14]  R. Pyatt,et al.  A feasibility study for the newborn screening of spinal muscular atrophy , 2006, Genetics in Medicine.

[15]  R. Majumdar,et al.  Spinal Muscular Atrophy Carrier Screening by Multiplex Polymerase Chain Reaction using Dried Blood Spot on Filter Paper , 2005, Annals of human genetics.

[16]  K. Zerres,et al.  Determination of SMN1 and SMN2 copy number using TaqMan™ technology , 2003, Human mutation.

[17]  Shuji Ogino,et al.  Genetic testing and risk assessment for spinal muscular atrophy (SMA) , 2002, Human Genetics.

[18]  A. Krainer,et al.  Disruption of an SF2/ASF-dependent exonic splicing enhancer in SMN2 causes spinal muscular atrophy in the absence of SMN1 , 2002, Nature Genetics.

[19]  T. Wienker,et al.  Quantitative analyses of SMN1 and SMN2 based on real-time lightCycler PCR: fast and highly reliable carrier testing and prediction of severity of spinal muscular atrophy. , 2002, American journal of human genetics.

[20]  Thomas D. Schmittgen,et al.  Analysis of relative gene expression data using real-time quantitative PCR and the 2(-Delta Delta C(T)) Method. , 2001, Methods.

[21]  B. Wirth An update of the mutation spectrum of the survival motor neuron gene (SMN1) in autosomal recessive spinal muscular atrophy (SMA) , 2000, Human mutation.

[22]  J. Weissenbach,et al.  Identification and characterization of a spinal muscular atrophy-determining gene , 1995, Cell.

[23]  J. Pearn CLASSIFICATION OF SPINAL MUSCULAR ATROPHIES , 1980, The Lancet.

[24]  M. Bjørneboe,et al.  KUPFFER CELLS AND CIRRHOSIS , 1975, The Lancet.

[25]  B. Banker,et al.  Infantile muscular atrophy. , 1961, Archives of neurology.

[26]  S. Ogino,et al.  Population carrier screening for spinal muscular atrophy a position statement of the association for molecular pathology. , 2011, The Journal of molecular diagnostics : JMD.