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Alaimo, Joseph T.
83
results:
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1
De novo missense variants in exon 9 of SEPHS1 cause a neuro..:
Mullegama, Sureni V.
;
Kiernan, Kaitlyn A.
;
Torti, Erin
...
The American Journal of Human Genetics. 111 (2024) 6 - p. 1240 , 2024
Link:
https://doi.org/10.1016/..
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2
De novo missense variants in exon 9 of SEPHS1 cause a neuro..:
Mullegama, Sureni V.
;
Kiernan, Kaitlyn A.
;
Torti, Erin
...
The American Journal of Human Genetics. 111 (2024) 4 - p. 778-790 , 2024
Link:
https://doi.org/10.1016/..
?
3
Hyperinsulinemic Hypoglycemia and Growth Hormone Deficiency..:
Wee, Erica
;
Herriges, John
;
Dileepan, Kavitha
...
Case Reports in Endocrinology. 2023 (2023) - p. 1-5 , 2023
Link:
https://doi.org/10.1155/..
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4
Macrocephaly and developmental delay caused by missense var..:
Koop, Klaas
;
Yuan, Weimin
;
Tessadori, Federico
...
Human Molecular Genetics. 32 (2023) 21 - p. 3063-3077 , 2023
Link:
https://doi.org/10.1093/..
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5
The landscape of reported VUS in multi-gene panel and genom..:
Rehm, Heidi L.
;
Alaimo, Joseph T.
;
Aradhya, Swaroop
...
Genetics in Medicine. 25 (2023) 12 - p. 100947 , 2023
Link:
https://doi.org/10.1016/..
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6
Genomic answers for children: Dynamic analyses of >1000 ped..:
Cohen, Ana S.A.
;
Farrow, Emily G.
;
Abdelmoity, Ahmed T.
...
Genetics in Medicine. 24 (2022) 6 - p. 1336-1348 , 2022
Link:
https://doi.org/10.1016/..
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7
Clinical Validation of Genome Reference Consortium Human Bu..:
Lansdon, Lisa A
;
Cadieux-Dion, Maxime
;
Herriges, John C
...
Clinical Chemistry. 68 (2022) 9 - p. 1177-1183 , 2022
Link:
https://doi.org/10.1093/..
?
8
Utilization of next generation sequencing to characterize d..:
Herriges, John
;
Thiffault, Isabelle
;
Alaimo, Joseph T.
...
Molecular Genetics and Metabolism. 132 (2021) - p. S284 , 2021
Link:
https://doi.org/10.1016/..
?
9
Big Data Strikes Again: Future Utilization of the UK Bioban..:
Alaimo, Joseph T
;
Saunders, Carol J
Clinical Chemistry. , 2021
Link:
https://doi.org/10.1093/..
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10
TAB2 variants cause cardiovascular heart disease, connectiv..:
Hanson, Jennifer
;
Brezavar, Daniel
;
Hughes, Susan
...
Clinical Genetics. 101 (2021) 2 - p. 214-220 , 2021
Link:
https://doi.org/10.1111/..
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11
Expediting rare disease diagnosis: a call to bridge the gap..:
Hartin, Samantha N.
;
Means, John C.
;
Alaimo, Joseph T.
.
Molecular Medicine. 26 (2020) 1 - p. , 2020
Link:
https://doi.org/10.1186/..
?
12
A second cohort of CHD3 patients expands the molecular mech..:
Drivas, Theodore G.
;
Li, Dong
;
Nair, Divya
...
European Journal of Human Genetics. 28 (2020) 10 - p. 1422-1431 , 2020
Link:
https://doi.org/10.1038/..
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13
Pathogenic Bi-allelic Mutations in NDUFAF8 Cause Leigh Synd..:
Alston, Charlotte L.
;
Veling, Mike T.
;
Heidler, Juliana
...
The American Journal of Human Genetics. 106 (2020) 1 - p. 92-101 , 2020
Link:
https://doi.org/10.1016/..
?
14
Integrated analysis of metabolomic profiling and exome data..:
Alaimo, Joseph T.
;
Glinton, Kevin E.
;
Liu, Ning
...
Genetics in Medicine. 22 (2020) 9 - p. 1560-1566 , 2020
Link:
https://doi.org/10.1038/..
?
15
De novo and inherited TCF20 pathogenic variants are associa..:
The DDD study
;
Vetrini, Francesco
;
McKee, Shane
...
Genome Medicine. 11 (2019) 1 - p. , 2019
Link:
https://doi.org/10.1186/..
1-15