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Kirwin, Susan
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1

Mild Idiopathic Infantile Hypercalcemia—Part 1: Biochemical..:

Lenherr-Taube, Nina ; Young, Edwin J ; Furman, Michelle...
The Journal of Clinical Endocrinology & Metabolism.  106 (2021)  10 - p. 2915-2937 , 2021
Link: https://doi.org/10.1210/..
 
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2

Estimating the relative frequency of leukodystrophies and r..:

Schmidt, Johanna L. ; Pizzino, Amy ; Nicholl, Jessica...
American Journal of Medical Genetics Part A.  182 (2020)  8 - p. 1906-1912 , 2020
Link: https://doi.org/10.1002/..
 
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3

Erratum to "Detection of rarely identified multiple mutatio..:

Chapleau, Christopher A. ; Lane, Jane ; Kirwin, Susan...
American Journal of Medical Genetics Part A.  164 (2014)  5 - p. 1346-1346 , 2014
Link: https://doi.org/10.1002/..
 
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4

Hypoplastic Left Heart Syndrome: Molecular Consequences of ..:

Shay, Ashley Elizabeth ; Kirwin, Susan ; Prospero, Carol..
The FASEB Journal.  26 (2012)  S1 - p. , 2012
Link: https://doi.org/10.1096/..
 
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5

Leptin Predicts Somatic Growth in the Premature Infant:

Spear, Michael L ; Hassink, Sandra G ; Leef, Kathy...
Pediatric Research.  45 (1999)  4, Part 2 of 2 - p. 291A-291A , 1999
Link: https://doi.org/10.1203/..
 
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6

Comparison of variants in TPMT and NUDT15 between sequencin..:

Cook, Kelsey J. ; Grusauskas, Victoria ; Gloe, Lucy...
Clinical and Translational Science.  16 (2023)  8 - p. 1352-1358 , 2023
Link: https://doi.org/10.1111/..
 
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7

Key Considerations for Selecting a Genomic Decision Support..:

Cook, Kelsey J. ; Duong, Benjamin Q. ; Seligson, Nathan D....
Clinical Pharmacology & Therapeutics.  110 (2021)  3 - p. 555-558 , 2021
Link: https://doi.org/10.1002/..
 
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8

Genome sequencing in persistently unsolved white matter dis..:

Helman, Guy ; Lajoie, Bryan R. ; Crawford, Joanna...
Annals of Clinical and Translational Neurology.  7 (2020)  1 - p. 144-152 , 2020
Link: https://doi.org/10.1002/..
 
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9

A mutation in TRPV4 results in altered chondrocyte calcium ..:

Hurd, Lauren ; Kirwin, Susan M. ; Boggs, Mary...
American Journal of Medical Genetics Part A.  167 (2015)  10 - p. 2286-2293 , 2015
Link: https://doi.org/10.1002/..
 
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10

Tafazzin splice variants and mutations in Barth syndrome:

Kirwin, Susan M. ; Manolakos, Athena ; Barnett, Sarah Swain.
Molecular Genetics and Metabolism.  111 (2014)  1 - p. 26-32 , 2014
Link: https://doi.org/10.1016/..
 
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11

Detection of rarely identified multiple mutations in MECP2 ..:

Chapleau, Christopher A. ; Lane, Jane ; Kirwin, Susan M....
American Journal of Medical Genetics Part A.  161 (2013)  7 - p. 1638-1646 , 2013
Link: https://doi.org/10.1002/..
 
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12

A homozygous double mutation in SMN1: a complicated genetic..:

Kirwin, Susan M. ; Vinette, Kathy M. B. ; Gonzalez, Iris L....
Molecular Genetics & Genomic Medicine.  1 (2013)  2 - p. 113-117 , 2013
Link: https://doi.org/10.1002/..
 
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13

Choreoathetosis, congenital hypothyroidism and neonatal res..:

Barnett, Christopher P. ; Mencel, Justin J. ; Gecz, Jozef...
American Journal of Medical Genetics Part A.  158A (2012)  12 - p. 3168-3173 , 2012
Link: https://doi.org/10.1002/..
 
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14

A novel mutation in the GCM2 gene causing severe congenital..:

Doyle, Daniel ; Kirwin, Susan M. ; Sol-Church, Katia.
Journal of Pediatric Endocrinology and Metabolism.  25 (2012)  7-8 - p. , 2012
Link: https://doi.org/10.1515/..
 
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15

Brain-Lung-Thyroid Disease: Clinical Features of a Kindred ..:

Ferrara, Joseph M. ; Adam, Octavian R. ; Kirwin, Susan M....
Journal of Child Neurology.  27 (2011)  1 - p. 68-73 , 2011
Link: https://doi.org/10.1177/..
 
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