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McMullan, Dominic J
72  Ergebnisse:
Personensuche X
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1

P576: Recalibration of scoring metrics to assess the pathog..:

Spector, Emily ; Andersen, Erica ; Herriges, John...
Genetics in Medicine Open.  2 (2024)  - p. 101482 , 2024
Link: https://doi.org/10.1016/..
 
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2

A case of mosaic deletion of paternally‐inherited PLAGL1 an..:

Alhendi, Ahmed S. N. ; Gazdagh, Gabriella ; Lim, Derek...
American Journal of Medical Genetics Part A.  194 (2023)  2 - p. 383-388 , 2023
Link: https://doi.org/10.1002/..
 
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3

Identifying phenotypic expansions for congenital diaphragma..:

Hardcastle, Amy ; Berry, Aliska M. ; Campbell, Ian M....
American Journal of Medical Genetics Part A.  188 (2022)  10 - p. 2958-2968 , 2022
Link: https://doi.org/10.1002/..
 
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4

Optimising Exome Prenatal Sequencing Services (EXPRESS): a ..:

Hill, Melissa ; Ellard, Sian ; Fisher, Jane...
NIHR Open Research.  2 (2022)  - p. 10 , 2022
Link: https://doi.org/10.3310/..
 
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5

Optimising Exome Prenatal Sequencing Services (EXPRESS): a ..:

Hill, Melissa ; Ellard, Sian ; Fisher, Jane...
NIHR Open Research.  2 (2022)  - p. 10 , 2022
Link: https://doi.org/10.3310/..
 
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6

Second‐trimester prenatal diagnosis of Nager syndrome with ..:

Drozniewska, Malgorzata ; Kilby, Mark D. ; Vogt, Julie...
Clinical Case Reports.  8 (2020)  3 - p. 508-511 , 2020
Link: https://doi.org/10.1002/..
 
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7

Exome Sequencing for Prenatal Detection of Genetic Abnormal..:

Kodabuckus, Shahela S. ; Quinlan-Jones, Elizabeth ; McMullan, Dominic J....
Fetal Diagnosis and Therapy.  47 (2020)  7 - p. 554-564 , 2020
Link: https://doi.org/10.1159/..
 
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8

Prenatal chromosomal microarray testing of fetuses with ult..:

Chong, Hsu P. ; Hamilton, Susan ; Mone, Fionnuala...
Prenatal Diagnosis.  39 (2019)  12 - p. 1064-1069 , 2019
Link: https://doi.org/10.1002/..
 
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9

Molecular autopsy by trio exome sequencing (ES) and postmor..:

Quinlan-Jones, Elizabeth ; Lord, Jenny ; Williams, Denise...
Genetics in Medicine.  21 (2019)  5 - p. 1065-1073 , 2019
Link: https://doi.org/10.1038/..
 
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10

Prenatal exome sequencing analysis in fetal structural anom..:

Lord, Jenny ; McMullan, Dominic J ; Eberhardt, Ruth Y...
The Lancet.  393 (2019)  10173 - p. 747-757 , 2019
Link: https://doi.org/10.1016/..
 
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11

New GJA8 variants and phenotypes highlight its critical rol..:

DDD Study ; Ceroni, Fabiola ; Aguilera-Garcia, Domingo...
Human Genetics.  138 (2018)  8-9 - p. 1027-1042 , 2018
Link: https://doi.org/10.1007/..
 
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12

Prenatal whole exome sequencing: the views of clinicians, s..:

Quinlan‐Jones, Elizabeth ; Kilby, Mark D. ; Greenfield, Sheila...
Prenatal Diagnosis.  36 (2016)  10 - p. 935-941 , 2016
Link: https://doi.org/10.1002/..
 
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13

Genomic complexity of urothelial bladder cancer revealed in..:

Togneri, Fiona S ; Ward, Douglas G ; Foster, Joseph M...
European Journal of Human Genetics.  24 (2016)  8 - p. 1167-1174 , 2016
Link: https://doi.org/10.1038/..
 
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14

Discovery of four recessive developmental disorders using p..:

the DDD study ; Akawi, Nadia ; McRae, Jeremy...
Nature Genetics.  47 (2015)  11 - p. 1363-1369 , 2015
Link: https://doi.org/10.1038/..
 
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15

Cross-laboratory validation of the OncoScan® FFPE Assay, a ..:

Foster, Joseph M ; Oumie, Assa ; Togneri, Fiona S...
BMC Medical Genomics.  8 (2015)  1 - p. , 2015
Link: https://doi.org/10.1186/..
 
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