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Alaimo, Joseph T.
147  Ergebnisse:
Personensuche X
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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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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/..
 
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3

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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4

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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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

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/..
 
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7

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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8

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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9

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/..
 
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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

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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12

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/..
 
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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/..
 
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14

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/..
 
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15

Correction to: De novo and inherited TCF20 pathogenic varia..:

The DDD study ; Vetrini, Francesco ; McKee, Shane...
Genome Medicine.  11 (2019)  1 - p. , 2019
Link: https://doi.org/10.1186/..
 
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