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Eggers, Stefanie
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1

Prospective cohort study of genomic newborn screening: Baby..:

Lunke, Sebastian ; Bouffler, Sophie E ; Downie, Lilian...
BMJ Open.  14 (2024)  4 - p. e081426 , 2024
Link: https://doi.org/10.1136/..
 
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2

The cost of proband and trio exome and genome analysis in r..:

Mordaunt, Dylan A. ; Gonzalez, Francisco Santos ; Lunke, Sebastian...
Genetics in Medicine.  26 (2024)  4 - p. 101058 , 2024
Link: https://doi.org/10.1016/..
 
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3

Variants in SART3 cause a spliceosomopathy characterised by..:

Ayers, Katie L. ; Eggers, Stefanie ; Rollo, Ben N....
Nature Communications.  14 (2023)  1 - p. , 2023
Link: https://doi.org/10.1038/..
 
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Integrated multi-omics for rapid rare disease diagnosis on ..:

Lunke, Sebastian ; Bouffler, Sophie E. ; Patel, Chirag V....
Nature Medicine.  29 (2023)  7 - p. 1681-1691 , 2023
Link: https://doi.org/10.1038/..
 
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5

Author Correction: Variants in SART3 cause a spliceosomopat..:

Ayers, Katie L. ; Eggers, Stefanie ; Rollo, Ben N....
Nature Communications.  14 (2023)  1 - p. , 2023
Link: https://doi.org/10.1038/..
 
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6

FGF9 variant in 46,XY DSD patient suggests a role for dimer..:

Croft, Brittany ; Bird, Anthony D. ; Ono, Makoto...
Clinical Genetics.  103 (2022)  3 - p. 277-287 , 2022
Link: https://doi.org/10.1111/..
 
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7

The severe epilepsy syndromes of infancy: A population‐base..:

Howell, Katherine B. ; Freeman, Jeremy L. ; Mackay, Mark T....
Epilepsia.  62 (2021)  2 - p. 358-370 , 2021
Link: https://doi.org/10.1111/..
 
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8

Aberrant splicing and transcriptional activity of TPP1 resu..:

Helman, Guy ; Taylor, Lauren E. ; Walkiewicz, Marzena...
European Journal of Medical Genetics.  64 (2021)  8 - p. 104259 , 2021
Link: https://doi.org/10.1016/..
 
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9

Analysis of variants in GATA4 and FOG2/ZFPM2 demonstrates b..:

van den Bergen, Jocelyn A. ; Robevska, Gorjana ; Eggers, Stefanie...
Molecular Genetics & Genomic Medicine.  8 (2020)  3 - p. , 2020
Link: https://doi.org/10.1002/..
 
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10

The association between pneumococcal vaccination, ethnicity..:

Boelsen, Laura K. ; Dunne, Eileen M. ; Mika, Moana...
Microbiome.  7 (2019)  1 - p. , 2019
Link: https://doi.org/10.1186/..
 
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11

Early diagnosis of Pearson syndrome in neonatal intensive c..:

Akesson, Lauren S. ; Eggers, Stefanie ; Love, Clare J....
European Journal of Human Genetics.  27 (2019)  12 - p. 1821-1826 , 2019
Link: https://doi.org/10.1038/..
 
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12

Rapid mitochondrial genome (MTDNA) sequencing: facilitating..:

Akesson, Lauren S. ; Eggers, Stefanie ; Chong, Belinda...
Pathology.  51 (2019)  - p. S118-S119 , 2019
Link: https://doi.org/10.1016/..
 
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13

Cover Image, Volume 40, Issue 2:

Knarston, Ingrid M. ; Robevska, Gorjana ; van den Bergen, Jocelyn A...
Human Mutation.  40 (2019)  2 - p. i-i , 2019
Link: https://doi.org/10.1002/..
 
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14

Whole exome sequencing reveals a de novo missense variant i..:

Kaur, Simranpreet ; Van Bergen, Nicole J. ; Gold, Wendy Anne...
Clinical Case Reports.  7 (2019)  12 - p. 2476-2482 , 2019
Link: https://doi.org/10.1002/..
 
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15

A population‐based cost‐effectiveness study of early geneti..:

Howell, Katherine B. ; Eggers, Stefanie ; Dalziel, Kim...
Epilepsia.  59 (2018)  6 - p. 1177-1187 , 2018
Link: https://doi.org/10.1111/..
 
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