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Bowdin, Sarah
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1

Advancing diagnosis and research for rare genetic diseases ..:

Baynam, Gareth ; Julkowska, Daria ; Bowdin, Sarah...
Nature Genetics.  , 2024
Link: https://doi.org/10.1038/..
 
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2

The Cardiac Genome Clinic: implementing genome sequencing i..:

Reuter, Miriam S. ; Chaturvedi, Rajiv R. ; Liston, Eriskay...
Genetics in Medicine.  22 (2020)  6 - p. 1015-1024 , 2020
Link: https://doi.org/10.1038/..
 
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3

Whole genome sequencing reveals that genetic conditions are..:

NIHR BioResource—Rare Disease ; French, Courtney E. ; Delon, Isabelle...
Intensive Care Medicine.  45 (2019)  5 - p. 627-636 , 2019
Link: https://doi.org/10.1007/..
 
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4

Prolidase deficiency diagnosed by whole exome sequencing in..:

Rayment, Jonathan H. ; Jobling, Rebekah ; Bowdin, Sarah..
ERJ Open Research.  5 (2019)  2 - p. 00205-2018 , 2019
Link: https://doi.org/10.1183/..
 
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5

Periodic reanalysis of whole-genome sequencing data enhance..:

Costain, Gregory ; Jobling, Rebekah ; Walker, Susan...
European Journal of Human Genetics.  26 (2018)  5 - p. 740-744 , 2018
Link: https://doi.org/10.1038/..
 
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6

Genome-wide sequencing expands the phenotypic spectrum of E..:

Costain, Gregory ; Kannu, Peter ; Bowdin, Sarah
European Journal of Medical Genetics.  61 (2018)  3 - p. 125-129 , 2018
Link: https://doi.org/10.1016/..
 
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7

Genome sequencing as a platform for pharmacogenetic genotyp..:

Cohn, Iris ; Paton, Tara A. ; Marshall, Christian R....
npj Genomic Medicine.  2 (2017)  1 - p. , 2017
Link: https://doi.org/10.1038/..
 
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8

Care and cost consequences of pediatric whole genome sequen..:

Hayeems, Robin Z. ; Bhawra, Jasmin ; Tsiplova, Kate...
European Journal of Human Genetics.  25 (2017)  12 - p. 1303-1312 , 2017
Link: https://doi.org/10.1038/..
 
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9

Whole-genome sequencing expands diagnostic utility and impr..:

Stavropoulos, Dimitri J ; Merico, Daniele ; Jobling, Rebekah...
npj Genomic Medicine.  1 (2016)  1 - p. , 2016
Link: https://doi.org/10.1038/..
 
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10

Recommendations for the integration of genomics into clinic..:

Bowdin, Sarah ; Gilbert, Adel ; Bedoukian, Emma...
Genetics in Medicine.  18 (2016)  11 - p. 1075-1084 , 2016
Link: https://doi.org/10.1038/..
 
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11

FGFR‐associated craniosynostosis syndromes and gastrointest..:

Hibberd, Christine E. ; Bowdin, Sarah ; Arudchelvan, Yamini...
American Journal of Medical Genetics Part A.  170 (2016)  12 - p. 3215-3221 , 2016
Link: https://doi.org/10.1002/..
 
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12

Exome sequencing identifies rare variants in multiple genes..:

D'Alessandro, Lisa C.A. ; Al Turki, Saeed ; Manickaraj, Ashok Kumar...
Genetics in Medicine.  18 (2016)  2 - p. 189-198 , 2016
Link: https://doi.org/10.1038/..
 
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13

Heterozygous mutations in ERF cause syndromic craniosynosto..:

Chaudhry, Ayeshah ; Sabatini, Peter ; Han, Liping...
American Journal of Medical Genetics Part A.  167 (2015)  11 - p. 2544-2547 , 2015
Link: https://doi.org/10.1002/..
 
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14

Novel MASP1 mutations are associated with an expanded pheno..:

Atik, Tahir ; Koparir, Asuman ; Bademci, Guney...
Orphanet Journal of Rare Diseases.  10 (2015)  1 - p. , 2015
Link: https://doi.org/10.1186/..
 
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15

Absent CNKSR2 causes seizures and intellectual, attention, ..:

Vaags, Andrea K. ; Bowdin, Sarah ; Smith, Mary‐Lou...
Annals of Neurology.  76 (2014)  5 - p. 758-764 , 2014
Link: https://doi.org/10.1002/..
 
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