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Andrea Accogli
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1

Biallelic loss-of-function variants in CACHD1 cause a novel..:

Scala, Marcello ; Khan, Kamal ; Beneteau, Claire...
Genetics in Medicine.  26 (2024)  4 - p. 101057 , 2024
Link: https://doi.org/10.1016/..
 
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2

De novo variants in FRYL are associated with developmental ..:

Pan, Xueyang ; Tao, Alice M. ; Lu, Shenzhao...
The American Journal of Human Genetics.  111 (2024)  4 - p. 742-760 , 2024
Link: https://doi.org/10.1016/..
 
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3

Biallelic loss-of-function variants of SLC12A9 cause lysoso..:

Accogli, Andrea ; Park, Young N. ; Lenk, Guy M....
Genetics in Medicine.  26 (2024)  5 - p. 101097 , 2024
Link: https://doi.org/10.1016/..
 
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4

Etiological involvement of KCND1 variants in an X-linked ne..:

Kalm, Tassja ; Schob, Claudia ; Völler, Hanna...
The American Journal of Human Genetics.  111 (2024)  6 - p. 1206-1221 , 2024
Link: https://doi.org/10.1016/..
 
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5

Bi-allelic variants in CELSR3 are implicated in central ner..:

Stegmann, Jil D. ; Kalanithy, Jeshurun C. ; Dworschak, Gabriel C....
npj Genomic Medicine.  9 (2024)  1 - p. , 2024
Link: https://doi.org/10.1038/..
 
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6

Bi-allelic genetic variants in the translational GTPases GT..:

Salpietro, Vincenzo ; Maroofian, Reza ; Zaki, Maha S....
The American Journal of Human Genetics.  111 (2024)  1 - p. 200-210 , 2024
Link: https://doi.org/10.1016/..
 
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7

Mono-allelic KCNB2 variants lead to a neurodevelopmental sy..:

Bhat, Shreyas ; Rousseau, Justine ; Michaud, Coralie...
The American Journal of Human Genetics.  111 (2024)  4 - p. 761-777 , 2024
Link: https://doi.org/10.1016/..
 
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8

Variants in the WDR44 WD40-repeat domain cause a spectrum o..:

Accogli, Andrea ; Shakya, Saurabh ; Yang, Taewoo...
Nature Communications.  15 (2024)  1 - p. , 2024
Link: https://doi.org/10.1038/..
 
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9

Clinical and molecular characterization of patients with YW..:

Cetica, Valentina ; Pisano, Tiziana ; Lesca, Gaetan...
Epilepsia.  65 (2024)  5 - p. 1439-1450 , 2024
Link: https://doi.org/10.1111/..
 
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10

Defining the Genetic Landscape of Congenital Mirror Movemen..:

Collins Hutchinson, Meagan L. ; St‐Onge, Judith ; Schlienger, Sabrina...
Movement Disorders.  39 (2024)  2 - p. 400-410 , 2024
Link: https://doi.org/10.1002/..
 
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11

A second hotspot for pathogenic exon-skipping variants in C..:

Schoch, Kelly ; Ruegg, Mischa S. G. ; Fellows, Bridget J....
European Journal of Human Genetics.  32 (2024)  7 - p. 786-794 , 2024
Link: https://doi.org/10.1038/..
 
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12

Twins with psychiatric features and a nonsense HRAS variant..:

Accogli, Andrea ; Collins Hutchinson, Meagan L. ; Krochmalnek, Eric...
Psychiatry Research Case Reports.  2 (2023)  2 - p. 100189 , 2023
Link: https://doi.org/10.1016/..
 
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13

A PAK1 Mutational Hotspot Within the Regulatory CRIPaK Doma..:

Scorrano, Giovanna ; D'Onofrio, Gianluca ; Accogli, Andrea...
Pediatric Neurology.  149 (2023)  - p. 84-92 , 2023
Link: https://doi.org/10.1016/..
 
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14

Lunapark deficiency leads to an autosomal recessive neurode..:

Accogli, Andrea ; Zaki, Maha S ; Al-Owain, Mohammed...
Brain Communications.  , 2023
Link: https://doi.org/10.1093/..
 
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15

Novel biallelic variants expand the phenotype of NAA20‐rela..:

D'Onofrio, Gianluca ; Cuccurullo, Claudia ; Larsen, Silje Kathrine...
Clinical Genetics.  104 (2023)  3 - p. 371-376 , 2023
Link: https://doi.org/10.1111/..
 
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