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Amelle Shillington
35
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Online (35)
Mediatypes
Articles (Online) (17)
OpenAccess-fulltext (18)
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1
P351: Genetic testing for patients with neurodevelopmental ..:
Shillington, Amelle
;
White, Lori
;
Doberstein, Rachel
...
Genetics in Medicine Open. 2 (2024) - p. 101245 , 2024
Link:
https://doi.org/10.1016/..
?
2
A novel RYR1 variant in an infant with a unique fetal prese..:
Baker, Elizabeth K.
;
Al Gharaibeh, Faris N.
;
Bove, Kevin
...
American Journal of Medical Genetics Part A. 191 (2023) 6 - p. 1646-1651 , 2023
Link:
https://doi.org/10.1002/..
?
3
Non-canonical C-terminal variant of MeCP2 R344W exhibits en..:
Chai, Yue
;
Lee, Sharon Shui Ying
;
Shillington, Amelle
...
IBRO Neuroscience Reports. 15 (2023) - p. 218-224 , 2023
Link:
https://doi.org/10.1016/..
?
4
27.4 Catatonia in Neurodevelopmental Disorders and the Crea..:
Dominick, Kelli C.
;
Zappia, Katherine
;
Shillington, Amelle
...
Journal of the American Academy of Child & Adolescent Psychiatry. 62 (2023) 10 - p. S366-S367 , 2023
Link:
https://doi.org/10.1016/..
?
5
O29: Providing genetic evaluation and testing to patients w..:
Shillington, Amelle
;
Hopkin, Robert
;
Harris, Katherine
.
Genetics in Medicine Open. 1 (2023) 1 - p. 100406 , 2023
Link:
https://doi.org/10.1016/..
?
6
Genetic syndromes are prevalent in patients with comorbid n..:
Shillington, Amelle
;
Zappia, Katherine J.
;
White, Lori
...
American Journal of Medical Genetics Part A. 191 (2023) 11 - p. 2716-2722 , 2023
Link:
https://doi.org/10.1002/..
?
7
Neurodevelopmental and other phenotypes recurrently associa..:
Sewani, Soha
;
Azamian, Mahshid S.
;
Mendelsohn, Bryce A.
...
American Journal of Medical Genetics Part A. 194 (2023) 3 - p. , 2023
Link:
https://doi.org/10.1002/..
?
8
Primary Familial Brain Calcification with Leukoencephalopat..:
Shen, Jack
;
Shillington, Amelle
;
Espay, Alberto
.
Neurology. 98 (2022) 18_supplement - p. , 2022
Link:
https://doi.org/10.1212/..
?
9
A Collaborative Psychiatric-Genetics Inpatient Care Deliver..:
Shillington, Amelle
;
Lamy, Martine
;
Dominick, Kelli C.
...
Frontiers in Genetics. 13 (2022) - p. , 2022
Link:
https://doi.org/10.3389/..
?
10
eP248: Impact of DNA methylation signature exploration for ..:
Gittens, Olivia
;
Qu'd, Dima
;
Tolusso, Leandra
...
Genetics in Medicine. 24 (2022) 3 - p. S157-S158 , 2022
Link:
https://doi.org/10.1016/..
?
11
ZMYND11variants are a novel cause of centrotemporal and gen..:
Oates, Stephanie
;
Absoud, Michael
;
Goyal, Sushma
...
Clinical Genetics. 100 (2021) 4 - p. 412-429 , 2021
Link:
https://doi.org/10.1111/..
?
12
Genetic testing in patients with nonsyndromic autism spectr..:
Shillington, Amelle
;
Capal, Jamie K.
Epilepsy & Behavior. 114 (2021) - p. 107564 , 2021
Link:
https://doi.org/10.1016/..
?
13
Clinical RNA sequencing confirms compound heterozygous intr..:
Shillington, Amelle
;
Zea Vera, Alonso
;
Perry, Tanya
...
Molecular Genetics & Genomic Medicine. 9 (2021) 10 - p. , 2021
Link:
https://doi.org/10.1002/..
?
14
Loss- or Gain-of-Function Mutations in ACOX1 Cause Axonal L..:
Chung, Hyung-lok
;
Wangler, Michael F.
;
Marcogliese, Paul C.
...
Neuron. 106 (2020) 4 - p. 589-606.e6 , 2020
Link:
https://doi.org/10.1016/..
?
15
Early behavioral and developmental interventions in ADNP‐sy..:
Shillington, Amelle
;
Pedapati, Ernest
;
Hopkin, Robert
.
Molecular Genetics & Genomic Medicine. 8 (2020) 6 - p. , 2020
Link:
https://doi.org/10.1002/..
1-15