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Herman, Isabella
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1

A Comprehensive Examination of Clinical Characteristics and..:

Karakas, Cemal ; Herman, Isabella ; Kralik, Stephen F....
Pediatric Neurology.  155 (2024)  - p. 76-83 , 2024
Link: https://doi.org/10.1016/..
 
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2

Monoallelic variation in DHX9, the gene encoding the DExH-b..:

Calame, Daniel G. ; Guo, Tianyu ; Wang, Chen...
The American Journal of Human Genetics.  110 (2023)  8 - p. 1394-1413 , 2023
Link: https://doi.org/10.1016/..
 
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3

Biallelic Variants in the Ectonucleotidase ENTPD1 Cause a C..:

Calame, Daniel G. ; Herman, Isabella ; Maroofian, Reza...
Annals of Neurology.  92 (2022)  2 - p. 304-321 , 2022
Link: https://doi.org/10.1002/..
 
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4

El‐Hattab‐Alkuraya syndrome caused by biallelic WDR45B path..:

Almannai, Mohammed ; Marafi, Dana ; Abdel‐Salam, Ghada M. H....
Clinical Genetics.  101 (2022)  5-6 - p. 530-540 , 2022
Link: https://doi.org/10.1111/..
 
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5

Novel RETREG1 (FAM134B) founder allele is linked to HSAN2B ..:

Taşdelen, Elifcan ; Calame, Daniel G. ; Akay, Gulsen...
American Journal of Medical Genetics Part A.  188 (2022)  7 - p. 2153-2161 , 2022
Link: https://doi.org/10.1002/..
 
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6

A reverse genetics and genomics approach to gene paralog fu..:

Marafi, Dana ; Kozar, Nina ; Duan, Ruizhi...
The American Journal of Human Genetics.  109 (2022)  9 - p. 1713-1723 , 2022
Link: https://doi.org/10.1016/..
 
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7

High prevalence of multilocus pathogenic variation in neuro..:

Mitani, Tadahiro ; Isikay, Sedat ; Gezdirici, Alper...
The American Journal of Human Genetics.  108 (2021)  10 - p. 1981-2005 , 2021
Link: https://doi.org/10.1016/..
 
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8

Biallelic loss-of-function variants in the splicing regulat..:

Calame, Daniel G. ; Bakhtiari, Somayeh ; Logan, Rachel...
Genetics in Medicine.  23 (2021)  12 - p. 2455-2460 , 2021
Link: https://doi.org/10.1038/..
 
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9

Multilocus pathogenic variation in ZC4H2, MUSK, CAPN3, and ..:

Herman, Isabella ; Marafi, Dana ; Abdelsalam, Ghada...
Neurology.  96 (2021)  15_supplement - p. , 2021
Link: https://doi.org/10.1212/..
 
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10

Risk of sudden cardiac death in EXOSC5‐related disease:

Calame, Daniel G. ; Herman, Isabella ; Fatih, Jawid M....
American Journal of Medical Genetics Part A.  185 (2021)  8 - p. 2532-2540 , 2021
Link: https://doi.org/10.1002/..
 
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11

Quantitative dissection of multilocus pathogenic variation ..:

Herman, Isabella ; Jolly, Angad ; Du, Haowei...
American Journal of Medical Genetics Part A.  188 (2021)  3 - p. 735-750 , 2021
Link: https://doi.org/10.1002/..
 
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12

Deep clinicopathological phenotyping identifies a previousl..:

Calame, Daniel G. ; Fatih, Jawid M. ; Herman, Isabella...
Annals of Clinical and Translational Neurology.  8 (2021)  10 - p. 2052-2058 , 2021
Link: https://doi.org/10.1002/..
 
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13

Bi-allelic loss-of-function variants in the splicing regula..:

Calame, Daniel ; Bakhtiari, Somayeh ; Mitani, Tadahiro...
Neurology.  96 (2021)  15_supplement - p. , 2021
Link: https://doi.org/10.1212/..
 
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14

A systematic-review of olfactory deficits in neurodevelopme..:

Lyons-Warren, Ariel M. ; Herman, Isabella ; Hunt, Patrick J..
Neuroscience & Biobehavioral Reviews.  125 (2021)  - p. 110-121 , 2021
Link: https://doi.org/10.1016/..
 
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15

A de novo heterozygous rare variant in SV2A causes epilepsy..:

Calame, Daniel G. ; Herman, Isabella ; Riviello, James J.
Epilepsy & Behavior Reports.  15 (2021)  - p. 100425 , 2021
Link: https://doi.org/10.1016/..
 
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