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Plazzer, John-Paul
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1

Gene-specific ACMG/AMP classification criteria for germline..:

Spier, Isabel ; Yin, Xiaoyu ; Richardson, Marcy...
Genetics in Medicine.  26 (2024)  2 - p. 100992 , 2024
Link: https://doi.org/10.1016/..
 
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2

Estimating cancer risk in carriers of Lynch syndrome varian..:

Fummey, Eilidh ; Navarro, Pau ; Plazzer, John-Paul...
Journal of Medical Genetics.  , 2024
Link: https://doi.org/10.1136/..
 
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3

SMAD4 variants and its genotype–phenotype correlations to j..:

Cao, Kimberley ; Plazzer, John-Paul ; Macrae, Finlay
Hereditary Cancer in Clinical Practice.  21 (2023)  1 - p. , 2023
Link: https://doi.org/10.1186/..
 
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4

Mortality by age, gene and gender in carriers of pathogenic..:

Dominguez-Valentin, Mev ; Haupt, Saskia ; Seppälä, Toni T....
eClinicalMedicine.  58 (2023)  - p. 101909 , 2023
Link: https://doi.org/10.1016/..
 
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5

Colorectal cancer incidences in Lynch syndrome: a compariso..:

Møller, Pål ; Seppälä, Toni ; Dowty, James G....
Hereditary Cancer in Clinical Practice.  20 (2022)  1 - p. , 2022
Link: https://doi.org/10.1186/..
 
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6

EP1057: SMAD4 VARIANTS AND ITS GENOTYPE-PHENOTYPE CORRELATI..:

Cao, Kimberley ; Plazzer, John-Paul ; Macrae, Finlay A.
Gastroenterology.  162 (2022)  7 - p. S-1047-S-1048 , 2022
Link: https://doi.org/10.1016/..
 
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7

EP1058: GENOTYPE-PHENOTYPE CORRELATION OF BMPR1A DISEASE CA..:

Papadopulos, Marie ; Plazzer, John-Paul ; Macrae, Finlay A.
Gastroenterology.  162 (2022)  7 - p. S-1048 , 2022
Link: https://doi.org/10.1016/..
 
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8

No Difference in Penetrance between Truncating and Missense..:

Dominguez-Valentin, Mev ; Plazzer, John-Paul ; Sampson, Julian R....
Journal of Clinical Medicine.  10 (2021)  13 - p. 2856 , 2021
Link: https://doi.org/10.3390/..
 
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9

Correction: Cancer risks by gene, age, and gender in 6350 c..:

Dominguez-Valentin, Mev ; Sampson, Julian R. ; Seppälä, Toni T....
Genetics in Medicine.  22 (2020)  9 - p. 1569 , 2020
Link: https://doi.org/10.1038/..
 
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10

Cancer risks by gene, age, and gender in 6350 carriers of p..:

Dominguez-Valentin, Mev ; Sampson, Julian R. ; Seppälä, Toni T....
Genetics in Medicine.  22 (2020)  1 - p. 15-25 , 2020
Link: https://doi.org/10.1038/..
 
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11

Lack of association between screening interval and cancer s..:

Seppälä, Toni T. ; Ahadova, Aysel ; Dominguez-Valentin, Mev...
Hereditary Cancer in Clinical Practice.  17 (2019)  1 - p. , 2019
Link: https://doi.org/10.1186/..
 
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12

Survival by colon cancer stage and screening interval in Ly..:

Dominguez-Valentin, Mev ; Seppälä, Toni T. ; Sampson, Julian R....
Hereditary Cancer in Clinical Practice.  17 (2019)  1 - p. , 2019
Link: https://doi.org/10.1186/..
 
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13

An exploration of genotype-phenotype link between Peutz-Jeg..:

Daniell, Julian ; Plazzer, John-Paul ; Perera, Anuradha.
Familial Cancer.  17 (2017)  3 - p. 421-427 , 2017
Link: https://doi.org/10.1007/..
 
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14

Harmonizing the interpretation of genetic variants across t..:

Members of Malaysian Node of HVP ; Nik Hassan, Nik Norliza ; Plazzer, John-Paul...
BMC Research Notes.  9 (2016)  1 - p. , 2016
Link: https://doi.org/10.1186/..
 
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15

Application of a 5-tiered scheme for standardized classific..:

on behalf of InSiGHT ; Thompson, Bryony A ; Spurdle, Amanda B...
Nature Genetics.  46 (2013)  2 - p. 107-115 , 2013
Link: https://doi.org/10.1038/..
 
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