Detalhe da pesquisa
1.
De novo missense variants in phosphatidylinositol kinase PIP5KIγ underlie a neurodevelopmental syndrome associated with altered phosphoinositide signaling.
Am J Hum Genet
; 110(8): 1377-1393, 2023 08 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-37451268
2.
Early onset epileptic and developmental encephalopathy and MOGS variants: a new diagnosis in the whole exome sequencing (WES) ERA : Report of a new patient and review of the literature.
Neurogenetics
; 2024 Mar 18.
Artigo
em Inglês
| MEDLINE | ID: mdl-38498292
3.
SPEN haploinsufficiency causes a neurodevelopmental disorder overlapping proximal 1p36 deletion syndrome with an episignature of X chromosomes in females.
Am J Hum Genet
; 108(3): 502-516, 2021 03 04.
Artigo
em Inglês
| MEDLINE | ID: mdl-33596411
4.
Double somatic mosaicism in Cornelia de Lange syndrome.
Am J Med Genet A
; 194(5): e63512, 2024 May.
Artigo
em Inglês
| MEDLINE | ID: mdl-38135466
5.
The crucial role of titin in fetal development: recurrent miscarriages and bone, heart and muscle anomalies characterise the severe end of titinopathies spectrum.
J Med Genet
; 60(9): 866-873, 2023 09.
Artigo
em Inglês
| MEDLINE | ID: mdl-36977548
6.
ARF1-related disorder: phenotypic and molecular spectrum.
J Med Genet
; 60(10): 999-1005, 2023 10.
Artigo
em Inglês
| MEDLINE | ID: mdl-37185208
7.
Clinical presentation of calmodulin mutations: the International Calmodulinopathy Registry.
Eur Heart J
; 44(35): 3357-3370, 2023 09 14.
Artigo
em Inglês
| MEDLINE | ID: mdl-37528649
8.
De novo EIF2AK1 and EIF2AK2 Variants Are Associated with Developmental Delay, Leukoencephalopathy, and Neurologic Decompensation.
Am J Hum Genet
; 106(4): 570-583, 2020 04 02.
Artigo
em Inglês
| MEDLINE | ID: mdl-32197074
9.
DNA Methylation Signature for EZH2 Functionally Classifies Sequence Variants in Three PRC2 Complex Genes.
Am J Hum Genet
; 106(5): 596-610, 2020 05 07.
Artigo
em Inglês
| MEDLINE | ID: mdl-32243864
10.
De novo variants in CNOT9 cause a neurodevelopmental disorder with or without epilepsy.
Genet Med
; 25(7): 100859, 2023 Jul.
Artigo
em Inglês
| MEDLINE | ID: mdl-37092538
11.
Delineation of a KDM2B-related neurodevelopmental disorder and its associated DNA methylation signature.
Genet Med
; 25(1): 49-62, 2023 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-36322151
12.
Absent B cells, agammaglobulinemia, and hypertrophic cardiomyopathy in folliculin-interacting protein 1 deficiency.
Blood
; 137(4): 493-499, 2021 01 28.
Artigo
em Inglês
| MEDLINE | ID: mdl-32905580
13.
Rock around DYRK1A: Ethnic diversity, clinical challenges.
Am J Med Genet A
; 191(5): 1459-1464, 2023 05.
Artigo
em Inglês
| MEDLINE | ID: mdl-36772973
14.
Congenital diaphragmatic hernia in Coffin Siris syndrome: Further evidence from two cases.
Am J Med Genet A
; 191(2): 605-611, 2023 02.
Artigo
em Inglês
| MEDLINE | ID: mdl-36416235
15.
Chung-Jansen syndrome can mimic Cornelia de Lange syndrome: Another player among chromatinopathies?
Am J Med Genet A
; 191(6): 1586-1592, 2023 06.
Artigo
em Inglês
| MEDLINE | ID: mdl-36843271
16.
FDXR-associated disease: a challenging differential diagnosis with inflammatory peripheral neuropathy.
Neurol Sci
; 44(9): 3037-3043, 2023 Sep.
Artigo
em Inglês
| MEDLINE | ID: mdl-37046037
17.
DSP-Related Cardiomyopathy as a Distinct Clinical Entity? Emerging Evidence from an Italian Cohort.
Int J Mol Sci
; 24(3)2023 Jan 27.
Artigo
em Inglês
| MEDLINE | ID: mdl-36768812
18.
De Novo Variants in MAPK8IP3 Cause Intellectual Disability with Variable Brain Anomalies.
Am J Hum Genet
; 104(2): 203-212, 2019 02 07.
Artigo
em Inglês
| MEDLINE | ID: mdl-30612693
19.
DNA methylation episignature in Gabriele-de Vries syndrome.
Genet Med
; 24(4): 905-914, 2022 04.
Artigo
em Inglês
| MEDLINE | ID: mdl-35027293
20.
A missense mutation in DDRGK1 gene associated to Shohat-type spondyloepimetaphyseal dysplasia: Two case reports and a review of literature.
Am J Med Genet A
; 188(8): 2434-2437, 2022 08.
Artigo
em Inglês
| MEDLINE | ID: mdl-35670300