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Mantere, Tuomo
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1

A framework for the clinical implementation of optical geno..:

Levy, Brynn ; Kanagal‐Shamanna, Rashmi ; Sahajpal, Nikhil S....
American Journal of Hematology.  99 (2024)  4 - p. 642-661 , 2024
Link: https://doi.org/10.1002/..
 
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2

Expanding the PRAAS spectrum: De novo mutations of immunopr..:

van der Made, Caspar I. ; Kersten, Simone ; Chorin, Odelia...
The American Journal of Human Genetics.  111 (2024)  4 - p. 791-804 , 2024
Link: https://doi.org/10.1016/..
 
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3

Exome sequencing identified rare recurrent copy number vari..:

Kumpula, Timo A. ; Vorimo, Sandra ; Mattila, Taneli T....
PLOS Genetics.  19 (2023)  8 - p. e1010889 , 2023
Link: https://doi.org/10.1371/..
 
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4

Evaluating the role of CHEK2 p.(Asp438Tyr) allele in inheri..:

Kumpula, Timo A. ; Koivuluoma, Susanna ; Soikkonen, Leila...
Familial Cancer.  22 (2023)  3 - p. 291-294 , 2023
Link: https://doi.org/10.1007/..
 
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5

A complex structural variant near SOX3 causes X-linked spli..:

de Boer, Elke ; Marcelis, Carlo ; Neveling, Kornelia...
Human Genetics and Genomics Advances.  4 (2023)  3 - p. 100200 , 2023
Link: https://doi.org/10.1016/..
 
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6

Optical Genome Mapping as an Alternative to FISH-Based Cyto..:

Valkama, Andriana ; Vorimo, Sandra ; Kumpula, Timo A....
Cancers.  15 (2023)  4 - p. 1294 , 2023
Link: https://doi.org/10.3390/..
 
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7

Optical Genome Mapping: A Promising New Tool to Assess Geno..:

Puiggros, Anna ; Ramos-Campoy, Silvia ; Kamaso, Joanna...
Cancers.  14 (2022)  14 - p. 3376 , 2022
Link: https://doi.org/10.3390/..
 
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8

Truncating TINF2 p.Tyr312Ter variant and inherited breast c..:

Koivuluoma, Susanna ; Vorimo, Sandra ; Mattila, Tiina M....
Familial Cancer.  22 (2022)  1 - p. 13-17 , 2022
Link: https://doi.org/10.1007/..
 
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9

Optical genome mapping identifies a germline retrotransposo..:

Sabatella, Mariangela ; Mantere, Tuomo ; Waanders, Esmé...
The Journal of Pathology.  255 (2021)  2 - p. 202-211 , 2021
Link: https://doi.org/10.1002/..
 
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10

Correction to: Exploring the missing heritability in subjec..:

Smits, Jeroen J. ; de Bruijn, Suzanne E. ; Lanting, Cornelis P....
Human Genetics.  , 2021
Link: https://doi.org/10.1007/..
 
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11

Optical genome mapping enables constitutional chromosomal a..:

Mantere, Tuomo ; Neveling, Kornelia ; Richard, Céline...
Molecular Genetics and Metabolism.  132 (2021)  - p. S263 , 2021
Link: https://doi.org/10.1016/..
 
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12

Exploring the missing heritability in subjects with hearing..:

Smits, Jeroen J. ; de Bruijn, Suzanne E. ; Lanting, Cornelis P....
Human Genetics.  141 (2021)  3-4 - p. 465-484 , 2021
Link: https://doi.org/10.1007/..
 
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13

Long-read technologies identify a hidden inverted duplicati..:

Fadaie, Zeinab ; Neveling, Kornelia ; Mantere, Tuomo...
Human Genetics and Genomics Advances.  2 (2021)  4 - p. 100046 , 2021
Link: https://doi.org/10.1016/..
 
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14

Evaluating the role of NTHL1 p.Q90* allele in inherited bre..:

Kumpula, Timo ; Tervasmäki, Anna ; Mantere, Tuomo...
Molecular Genetics & Genomic Medicine.  8 (2020)  11 - p. , 2020
Link: https://doi.org/10.1002/..
 
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15

Long-Read Sequencing Emerging in Medical Genetics:

Mantere, Tuomo ; Kersten, Simone ; Hoischen, Alexander
Frontiers in Genetics.  10 (2019)  - p. , 2019
Link: https://doi.org/10.3389/..
 
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