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Collins, Stephan C
11589  Ergebnisse:
Personensuche X
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1

ZSCAN10 deficiency causes a neurodevelopmental disorder wit..:

Laugwitz, Lucia ; Cheng, Fubo ; Collins, Stephan C...
Brain.  , 2024
Link: https://doi.org/10.1093/..
 
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2

De Novo Variants Found in Three Distinct Schizophrenia Popu..:

Loe-Mie, Yann ; Plançon, Christine ; Dubertret, Caroline...
Life.  14 (2024)  2 - p. 244 , 2024
Link: https://doi.org/10.3390/..
 
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3

Characterization of Vps13b-mutant mice reveals neuroanatomi..:

Montillot, Charlotte ; Skutunova, Emilia ; Ayushma...
Neurobiology of Disease.  185 (2023)  - p. 106259 , 2023
Link: https://doi.org/10.1016/..
 
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4

Dissecting the autism-associated 16p11.2 locus identifies m..:

Kretz, Perrine F. ; Wagner, Christel ; Mikhaleva, Anna...
Genome Biology.  24 (2023)  1 - p. , 2023
Link: https://doi.org/10.1186/..
 
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5

Models of KPTN-related disorder implicate mTOR signalling i..:

Levitin, Maria O ; Rawlins, Lettie E ; Sanchez-Andrade, Gabriela...
Brain.  146 (2023)  11 - p. 4766-4783 , 2023
Link: https://doi.org/10.1093/..
 
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6

YWHAE loss of function causes a rare neurodevelopmental dis..:

Denommé-Pichon, Anne-Sophie ; Collins, Stephan C. ; Bruel, Ange-Line...
Genetics in Medicine.  25 (2023)  7 - p. 100835 , 2023
Link: https://doi.org/10.1016/..
 
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7

Characterization of Two Mouse Chd7 Heterozygous Loss-of-Fun..:

Collins, Stephan C. ; Vancollie, Valerie E. ; Mikhaleva, Anna...
International Journal of Molecular Sciences.  23 (2022)  19 - p. 11509 , 2022
Link: https://doi.org/10.3390/..
 
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8

Novel role of the synaptic scaffold protein Dlgap4 in ventr..:

Romero, Delfina M. ; Poirier, Karine ; Belvindrah, Richard...
Nature Communications.  13 (2022)  1 - p. , 2022
Link: https://doi.org/10.1038/..
 
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9

Quantitative Neuroanatomical Phenotyping of the Embryonic M..:

Nguyen, Sylvie ; Kannan, Meghna ; Gaborit, Marion..
Current Protocols.  2 (2022)  7 - p. , 2022
Link: https://doi.org/10.1002/..
 
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10

Biallelic variants in TRAPPC10 cause a microcephalic TRAPPo..:

Rawlins, Lettie E. ; Almousa, Hashem ; Khan, Shazia...
PLOS Genetics.  18 (2022)  3 - p. e1010114 , 2022
Link: https://doi.org/10.1371/..
 
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11

Haploinsufficiency of the HIRA gene located in the 22q11 de..:

Jeanne, Médéric ; Vuillaume, Marie-Laure ; Ung, Dévina C....
Human Genetics.  140 (2021)  6 - p. 885-896 , 2021
Link: https://doi.org/10.1007/..
 
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12

A Positively Selected MAGEE2 LoF Allele Is Associated with ..:

Szpak, Michał ; Collins, Stephan C ; Li, Yan...
Molecular Biology and Evolution.  38 (2021)  12 - p. 5655-5663 , 2021
Link: https://doi.org/10.1093/..
 
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13

Large-scale neuroanatomical study uncovers 198 gene associa..:

Collins, Stephan C. ; Mikhaleva, Anna ; Vrcelj, Katarina...
Nature Communications.  10 (2019)  1 - p. , 2019
Link: https://doi.org/10.1038/..
 
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14

The neuroanatomy of Eml1 knockout mice, a model of subcorti..:

Collins, Stephan C. ; Uzquiano, Ana ; Selloum, Mohammed...
Journal of Anatomy.  235 (2019)  3 - p. 637-650 , 2019
Link: https://doi.org/10.1111/..
 
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15

TUBG1 missense variants underlying cortical malformations d..:

Ivanova, Ekaterina L. ; Gilet, Johan G. ; Sulimenko, Vadym...
Nature Communications.  10 (2019)  1 - p. , 2019
Link: https://doi.org/10.1038/..
 
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