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1.
De novo and bi-allelic variants in AP1G1 cause neurodevelopmental disorder with developmental delay, intellectual disability, and epilepsy.
Am J Hum Genet
; 108(7): 1330-1341, 2021 07 01.
Article
in English
| MEDLINE | ID: mdl-34102099
2.
Dissecting genetics of spectrum of epilepsies with eyelid myoclonia by exome sequencing.
Epilepsia
; 65(3): 779-791, 2024 Mar.
Article
in English
| MEDLINE | ID: mdl-38088023
3.
Deep phenotyping of the neuroimaging and skeletal features in KBG syndrome: a study of 53 patients and review of the literature.
J Med Genet
; 60(12): 1224-1234, 2023 Nov 27.
Article
in English
| MEDLINE | ID: mdl-37586838
4.
Heterozygous NOTCH1 Variants Cause CNS Immune Activation and Microangiopathy.
Ann Neurol
; 92(5): 895-901, 2022 11.
Article
in English
| MEDLINE | ID: mdl-35947102
5.
Exome sequencing in 116 patients with inherited thrombocytopenia that remained of unknown origin after systematic phenotype-driven diagnostic workup.
Haematologica
; 108(7): 1909-1919, 2023 Jul 01.
Article
in English
| MEDLINE | ID: mdl-36519321
6.
Defective lipid signalling caused by mutations in PIK3C2B underlies focal epilepsy.
Brain
; 145(7): 2313-2331, 2022 07 29.
Article
in English
| MEDLINE | ID: mdl-35786744
7.
Functional analysis of TLK2 variants and their proximal interactomes implicates impaired kinase activity and chromatin maintenance defects in their pathogenesis.
J Med Genet
; 59(2): 170-179, 2022 02.
Article
in English
| MEDLINE | ID: mdl-33323470
8.
Loss of function mutations in CCDC32 cause a congenital syndrome characterized by craniofacial, cardiac and neurodevelopmental anomalies.
Hum Mol Genet
; 29(9): 1489-1497, 2020 06 03.
Article
in English
| MEDLINE | ID: mdl-32307552
9.
De Novo SOX4 Variants Cause a Neurodevelopmental Disease Associated with Mild Dysmorphism.
Am J Hum Genet
; 104(2): 246-259, 2019 02 07.
Article
in English
| MEDLINE | ID: mdl-30661772
10.
Missense Mutations in NKAP Cause a Disorder of Transcriptional Regulation Characterized by Marfanoid Habitus and Cognitive Impairment.
Am J Hum Genet
; 105(5): 987-995, 2019 11 07.
Article
in English
| MEDLINE | ID: mdl-31587868
11.
Loss of SMPD4 Causes a Developmental Disorder Characterized by Microcephaly and Congenital Arthrogryposis.
Am J Hum Genet
; 105(4): 689-705, 2019 10 03.
Article
in English
| MEDLINE | ID: mdl-31495489
12.
unCOVERApp: an interactive graphical application for clinical assessment of sequence coverage at the base-pair level.
Bioinformatics
; 37(5): 723-725, 2021 05 05.
Article
in English
| MEDLINE | ID: mdl-32805025
13.
De Novo ZMYND8 variants result in an autosomal dominant neurodevelopmental disorder with cardiac malformations.
Genet Med
; 24(9): 1952-1966, 2022 09.
Article
in English
| MEDLINE | ID: mdl-35916866
14.
Exploration of Tools for the Interpretation of Human Non-Coding Variants.
Int J Mol Sci
; 23(21)2022 Oct 26.
Article
in English
| MEDLINE | ID: mdl-36361767
15.
KIAA1109 Variants Are Associated with a Severe Disorder of Brain Development and Arthrogryposis.
Am J Hum Genet
; 102(1): 116-132, 2018 01 04.
Article
in English
| MEDLINE | ID: mdl-29290337
16.
Loss-of-function mutations in PTPRJ cause a new form of inherited thrombocytopenia.
Blood
; 133(12): 1346-1357, 2019 03 21.
Article
in English
| MEDLINE | ID: mdl-30591527
17.
Expanding the clinical phenotype of the ultra-rare Skraban-Deardorff syndrome: Two novel individuals with WDR26 loss-of-function variants and a literature review.
Am J Med Genet A
; 185(6): 1712-1720, 2021 06.
Article
in English
| MEDLINE | ID: mdl-33675273
18.
SLC12A2 variants cause a neurodevelopmental disorder or cochleovestibular defect.
Brain
; 143(8): 2380-2387, 2020 08 01.
Article
in English
| MEDLINE | ID: mdl-32658972
19.
Autozygosity-driven genetic diagnosis in consanguineous families from Italy and the Greater Middle East.
Hum Genet
; 139(11): 1429-1441, 2020 Nov.
Article
in English
| MEDLINE | ID: mdl-32488467
20.
Whole-exome sequencing in adult patients with developmental and epileptic encephalopathy: It is never too late.
Clin Genet
; 98(5): 477-485, 2020 11.
Article
in English
| MEDLINE | ID: mdl-32725632