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Rodan, Lance H.
197
results:
Search for persons
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Format
Online (197)
Mediatypes
Articles (Online) (112)
Bookchapter (Online) (4)
OpenAccess-fulltext (81)
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english (189)
spanish (1)
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1
A de novo missense variant in EZH1 associated with developm..:
Jangam, Sharayu V
;
Briere, Lauren C
;
Jay, Kristy L
...
GENETICS. 224 (2023) 4 - p. , 2023
Link:
https://doi.org/10.1093/..
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2
Expansion of the clinical and neuroimaging spectrum associa..:
Andzelm, Milena M.
;
Balasubramaniam, Shanti
;
Yang, Edward
...
JIMD Reports. 63 (2022) 5 - p. 391-399 , 2022
Link:
https://doi.org/10.1002/..
?
3
The recurrent de novo c.2011C>T missense variant in MTSS2 c..:
Huang, Yan
;
Lemire, Gabrielle
;
Briere, Lauren C.
...
The American Journal of Human Genetics. 109 (2022) 10 - p. 1923-1931 , 2022
Link:
https://doi.org/10.1016/..
?
4
Novel CAPN1 missense variants in complex hereditary spastic..:
Alecu, Julian E.
;
Saffari, Afshin
;
Jumo, Hellen
...
Annals of Clinical and Translational Neurology. 9 (2022) 4 - p. 570-576 , 2022
Link:
https://doi.org/10.1002/..
?
5
The ClinGen Brain Malformation Variant Curation Expert Pane..:
Lai, Abbe
;
Soucy, Aubrie
;
El Achkar, Christelle Moufawad
...
Genetics in Medicine. 24 (2022) 11 - p. 2240-2248 , 2022
Link:
https://doi.org/10.1016/..
?
6
Bi-allelic loss-of-function variants in TMEM147 cause moder..:
Thomas, Quentin
;
Motta, Marialetizia
;
Gautier, Thierry
...
The American Journal of Human Genetics. 109 (2022) 10 - p. 1909-1922 , 2022
Link:
https://doi.org/10.1016/..
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7
De novo variants in TCF7L2 are associated with a syndromic ..:
Dias, Caroline
;
Pfundt, Rolph
;
Kleefstra, Tjitske
...
American Journal of Medical Genetics Part A. 185 (2021) 8 - p. 2384-2390 , 2021
Link:
https://doi.org/10.1002/..
?
8
RCL1 copy number variants are associated with a range of ne..:
Brownstein, Catherine A.
;
Smith, Richard S.
;
Rodan, Lance H.
...
Molecular Psychiatry. 26 (2021) 5 - p. 1706-1718 , 2021
Link:
https://doi.org/10.1038/..
?
9
Correction: Phenotypic expansion of CACNA1C-associated diso..:
Rodan, Lance H.
;
Spillmann, Rebecca C.
;
Kurata, Harley T.
...
Genetics in Medicine. 23 (2021) 10 - p. 2016 , 2021
Link:
https://doi.org/10.1038/..
?
10
CHEDDAsyndrome is an underrecognized neurodevelopmental dis..:
Palmer, Elizabeth E.
;
Whitton, Chloe
;
Hashem, Mais O.
...
Clinical Genetics. 100 (2021) 4 - p. 468-477 , 2021
Link:
https://doi.org/10.1111/..
?
11
Phenotypic expansion of CACNA1C-associated disorders to inc..:
Rodan, Lance H.
;
Spillmann, Rebecca C.
;
Kurata, Harley T.
...
Genetics in Medicine. 23 (2021) 10 - p. 1922-1932 , 2021
Link:
https://doi.org/10.1038/..
?
12
Disruption of RFX family transcription factors causes autis..:
Harris, Holly K.
;
Nakayama, Tojo
;
Lai, Jenny
...
Genetics in Medicine. 23 (2021) 6 - p. 1028-1040 , 2021
Link:
https://doi.org/10.1038/..
?
13
Pathogenic MAST3 Variants in the STK Domain Are Associated ..:
Spinelli, Egidio
;
Christensen, Kyle R.
;
Bryant, Emily
...
Annals of Neurology. 90 (2021) 2 - p. 274-284 , 2021
Link:
https://doi.org/10.1002/..
?
14
Loss of TNR causes a nonprogressive neurodevelopmental diso..:
Wagner, Matias
;
Lévy, Jonathan
;
Jung-Klawitter, Sabine
...
Genetics in Medicine. 22 (2020) 6 - p. 1061-1068 , 2020
Link:
https://doi.org/10.1038/..
?
15
Polymicrogyria is Associated With Pathogenic Variants in PT..:
Shao, Diane D.
;
Achkar, Christelle M.
;
Lai, Abbe
...
Annals of Neurology. 88 (2020) 6 - p. 1153-1164 , 2020
Link:
https://doi.org/10.1002/..
1-15