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Schleit, Jennifer
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1

P146: BeginNGS, an artificial intelligence-enabled genome s..:

Schleit, Jennifer ; Wright, Meredith ; Olsen, Lauren...
Genetics in Medicine Open.  2 (2024)  - p. 101043 , 2024
Link: https://doi.org/10.1016/..
 
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2

Novel filamin C (FLNC) variant causes a severe form of fami..:

Gaudreault, Nathalie ; Ruel, Louis‐Jacques ; Henry, Cyndi...
American Journal of Medical Genetics Part A.  191 (2023)  6 - p. 1508-1517 , 2023
Link: https://doi.org/10.1002/..
 
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3

eP358: Genetic findings in a cohort of patients with pulmon..:

Hathaway, Julie ; Cicerchia, Marcos ; Tommiska, Johanna...
Genetics in Medicine.  24 (2022)  3 - p. S224-S225 , 2022
Link: https://doi.org/10.1016/..
 
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4

Prevalence of RPGR-Mediated Retinal Dystrophy in an Unselec..:

Tuupanen, Sari ; Gall, Kimberly ; Sistonen, Johanna...
Translational Vision Science & Technology.  11 (2022)  1 - p. 6 , 2022
Link: https://doi.org/10.1167/..
 
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5

eP398: Searching beyond the exons in nuclear genes: Diagnos..:

Scocchia, Alicia ; Gall, Kimberly ; Hathaway, Julie...
Genetics in Medicine.  24 (2022)  3 - p. S250-S251 , 2022
Link: https://doi.org/10.1016/..
 
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6

eP351: Next-generation sequencing panels for cystic kidney ..:

Hathaway, Julie ; Scocchia, Alicia ; Huusko, Johanna...
Genetics in Medicine.  24 (2022)  3 - p. S220 , 2022
Link: https://doi.org/10.1016/..
 
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7

eP359: Diagnostic yield of genetic testing in an unselected..:

Hathaway, Julie ; Cicerchia, Marcos ; Tommiska, Johanna...
Genetics in Medicine.  24 (2022)  3 - p. S225-S226 , 2022
Link: https://doi.org/10.1016/..
 
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8

eP399: Characterizing molecular diagnostic findings from ne..:

Scocchia, Alicia ; Gall, Kimberly ; Hathaway, Julie...
Genetics in Medicine.  24 (2022)  3 - p. S251-S252 , 2022
Link: https://doi.org/10.1016/..
 
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9

Biallelic loss-of-function in NRAP is a cause of recessive ..:

Koskenvuo, Juha W. ; Saarinen, Inka ; Ahonen, Saija...
PLOS ONE.  16 (2021)  2 - p. e0245681 , 2021
Link: https://doi.org/10.1371/..
 
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10

Diagnostic yield of genetic testing in a heterogeneous coho..:

Hathaway, Julie ; Heliö, Krista ; Saarinen, Inka...
BMC Cardiovascular Disorders.  21 (2021)  1 - p. , 2021
Link: https://doi.org/10.1186/..
 
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11

Retrospective review of mitochondrial genome analysis in ov..:

Schleit, Jennifer ; Valori, Miko ; Kytola, Ville...
Molecular Genetics and Metabolism.  132 (2021)  - p. S229 , 2021
Link: https://doi.org/10.1016/..
 
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12

Biallelic NRAP variants are a significant cause of dilated ..:

Gall, Kim ; Koskenvuo, Juha ; Saarinen, Inka...
Molecular Genetics and Metabolism.  132 (2021)  - p. S220 , 2021
Link: https://doi.org/10.1016/..
 
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13

Diphthamide-deficiency syndrome: a novel human developmenta..:

Hawer, Harmen ; Mendelsohn, Bryce A. ; Mayer, Klaus...
European Journal of Human Genetics.  28 (2020)  11 - p. 1497-1508 , 2020
Link: https://doi.org/10.1038/..
 
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14

First, do no harm: direct-to-consumer genetic testing:

Schleit, Jennifer ; Naylor, Lorraine V. ; Hisama, Fuki M.
Genetics in Medicine.  21 (2019)  2 - p. 510-511 , 2019
Link: https://doi.org/10.1038/..
 
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15

LMX1B-Associated Nephropathy With Type III Collagen Deposit..:

Andeen, Nicole K. ; Schleit, Jennifer ; Blosser, Christopher D....
American Journal of Kidney Diseases.  72 (2018)  2 - p. 296-301 , 2018
Link: https://doi.org/10.1053/..
 
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