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Scurr, Ingrid
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1

Co‐occurrence of Proteus syndrome and ventricular tachycard..:

Ferguson, Richard ; Scurr, Ingrid ; Ours, Christopher A....
American Journal of Medical Genetics Part A.  191 (2023)  5 - p. 1430-1433 , 2023
Link: https://doi.org/10.1002/..
 
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2

SOX5: Lamb–Shaffer syndrome—A case series further expanding..:

Edgerley, Katharine ; Bryson, Lisa ; Hanington, Lucy...
American Journal of Medical Genetics Part A.  191 (2023)  5 - p. 1447-1458 , 2023
Link: https://doi.org/10.1002/..
 
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3

Expanding ACTA2 genotypes with corresponding phenotypes ove..:

Kaw, Anita ; Kaw, Kaveeta ; Hostetler, Ellen M....
American Journal of Medical Genetics Part A.  188 (2022)  8 - p. 2389-2396 , 2022
Link: https://doi.org/10.1002/..
 
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4

Stankiewicz-Isidor syndrome: expanding the clinical and mol..:

Isidor, Bertrand ; Ebstein, Frédéric ; Hurst, Anna...
Genetics in Medicine.  24 (2022)  1 - p. 179-191 , 2022
Link: https://doi.org/10.1016/..
 
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5

Delineating the Smith‐Kingsmore syndrome phenotype: Investi..:

Poole, Rebecca L. ; Curry, Philippa D. K. ; Marcinkute, Ruta...
American Journal of Medical Genetics Part A.  185 (2021)  8 - p. 2445-2454 , 2021
Link: https://doi.org/10.1002/..
 
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6

Syndromic disorders caused by gain-of-function variants in ..:

Gripp, Karen W. ; Smithson, Sarah F. ; Scurr, Ingrid J....
European Journal of Human Genetics.  29 (2021)  9 - p. 1384-1395 , 2021
Link: https://doi.org/10.1038/..
 
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7

Recurrent De Novo NAHR Reciprocal Duplications in the ATAD3..:

Gunning, Adam C. ; Strucinska, Klaudia ; Muñoz Oreja, Mikel...
The American Journal of Human Genetics.  106 (2020)  2 - p. 272-279 , 2020
Link: https://doi.org/10.1016/..
 
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8

Compound heterozygous Pkd1l1 variants in a family with two ..:

Le Fevre, Anna ; Baptista, Julia ; Ellard, Sian...
European Journal of Medical Genetics.  63 (2020)  2 - p. 103657 , 2020
Link: https://doi.org/10.1016/..
 
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9

Cantú syndrome: Findings from 74 patients in the Internatio..:

Grange, Dorothy K. ; Roessler, Helen I. ; McClenaghan, Conor...
American Journal of Medical Genetics Part C: Seminars in Medical Genetics.  181 (2019)  4 - p. 658-681 , 2019
Link: https://doi.org/10.1002/..
 
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10

Extending the clinical and genetic spectrum of ARID2 relate..:

Gazdagh, Gabriella ; Blyth, Moira ; Scurr, Ingrid...
European Journal of Medical Genetics.  62 (2019)  1 - p. 27-34 , 2019
Link: https://doi.org/10.1016/..
 
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11

Elucidating the genetic architecture of Adams-Oliver syndro..:

Meester, Josephina A.N. ; Sukalo, Maja ; Schröder, Kim C....
Human Mutation.  39 (2018)  9 - p. 1246-1261 , 2018
Link: https://doi.org/10.1002/..
 
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12

A mutation update on the LDS-associated genesTGFB2/3andSMAD..:

Schepers, Dorien ; Tortora, Giada ; Morisaki, Hiroko...
Human Mutation.  39 (2018)  5 - p. 621-634 , 2018
Link: https://doi.org/10.1002/..
 
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13

Clinical, biochemical and genetic spectrum of 70 patients w..:

Repp, Birgit M. ; Mastantuono, Elisa ; Alston, Charlotte L....
Orphanet Journal of Rare Diseases.  13 (2018)  1 - p. , 2018
Link: https://doi.org/10.1186/..
 
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14

Clinical utility gene card for: Cantú syndrome:

Kirk, Edwin P ; Scurr, Ingrid ; van Haaften, Gijs...
European Journal of Human Genetics.  25 (2017)  4 - p. 512-512 , 2017
Link: https://doi.org/10.1038/..
 
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15

Dominant missense mutations in ABCC9 cause Cantú syndrome:

Harakalova, Magdalena ; van Harssel, Jeske J T ; Terhal, Paulien A...
Nature Genetics.  44 (2012)  7 - p. 793-796 , 2012
Link: https://doi.org/10.1038/..
 
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