Detalhe da pesquisa
1.
Truncating SRCAP variants outside the Floating-Harbor syndrome locus cause a distinct neurodevelopmental disorder with a specific DNA methylation signature.
Am J Hum Genet
; 108(6): 1053-1068, 2021 06 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-33909990
2.
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
3.
Evaluating change in diet with pegvaliase treatment in adults with phenylketonuria: Analysis of phase 3 clinical trial data.
Mol Genet Metab
; 141(3): 108122, 2024 Mar.
Artigo
em Inglês
| MEDLINE | ID: mdl-38184920
4.
Best practice recommendations for the management of anxiety during the pegvaliase journey.
Mol Genet Metab
; 141(1): 107737, 2024 Jan.
Artigo
em Inglês
| MEDLINE | ID: mdl-38043481
5.
Long-term comparative effectiveness of pegvaliase versus medical nutrition therapy with and without sapropterin in adults with phenylketonuria.
Mol Genet Metab
; 141(1): 108114, 2024 Jan.
Artigo
em Inglês
| MEDLINE | ID: mdl-38142628
6.
Efficacy and safety of sapropterin before and during pregnancy: Final analysis of the Kuvan® Adult Maternal Paediatric European Registry (KAMPER) maternal and Phenylketonuria Developmental Outcomes and Safety (PKUDOS) PKU-MOMs sub-registries.
J Inherit Metab Dis
; 2024 Mar 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-38433424
7.
De Novo Variants in the ATPase Module of MORC2 Cause a Neurodevelopmental Disorder with Growth Retardation and Variable Craniofacial Dysmorphism.
Am J Hum Genet
; 107(2): 352-363, 2020 08 06.
Artigo
em Inglês
| MEDLINE | ID: mdl-32693025
8.
De Novo Variants Disrupting the HX Repeat Motif of ATN1 Cause a Recognizable Non-Progressive Neurocognitive Syndrome.
Am J Hum Genet
; 104(3): 542-552, 2019 03 07.
Artigo
em Inglês
| MEDLINE | ID: mdl-30827498
9.
Disruption of NEUROD2 causes a neurodevelopmental syndrome with autistic features via cell-autonomous defects in forebrain glutamatergic neurons.
Mol Psychiatry
; 26(11): 6125-6148, 2021 11.
Artigo
em Inglês
| MEDLINE | ID: mdl-34188164
10.
TAOK1 is associated with neurodevelopmental disorder and essential for neuronal maturation and cortical development.
Hum Mutat
; 42(4): 445-459, 2021 04.
Artigo
em Inglês
| MEDLINE | ID: mdl-33565190
11.
De Novo Pathogenic Variants in CACNA1E Cause Developmental and Epileptic Encephalopathy with Contractures, Macrocephaly, and Dyskinesias.
Am J Hum Genet
; 103(5): 666-678, 2018 11 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-30343943
12.
Defining the genotypic and phenotypic spectrum of X-linked MSL3-related disorder.
Genet Med
; 23(2): 384-395, 2021 02.
Artigo
em Inglês
| MEDLINE | ID: mdl-33173220
13.
Widening of the genetic and clinical spectrum of Lamb-Shaffer syndrome, a neurodevelopmental disorder due to SOX5 haploinsufficiency.
Genet Med
; 22(3): 524-537, 2020 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-31578471
14.
De novo pathogenic variants in neuronal differentiation factor 2 (NEUROD2) cause a form of early infantile epileptic encephalopathy.
J Med Genet
; 56(2): 113-122, 2019 02.
Artigo
em Inglês
| MEDLINE | ID: mdl-30323019
15.
SON haploinsufficiency causes impaired pre-mRNA splicing of CAKUT genes and heterogeneous renal phenotypes.
Kidney Int
; 95(6): 1494-1504, 2019 06.
Artigo
em Inglês
| MEDLINE | ID: mdl-31005274
16.
De Novo Mutations of RERE Cause a Genetic Syndrome with Features that Overlap Those Associated with Proximal 1p36 Deletions.
Am J Hum Genet
; 98(5): 963-970, 2016 May 05.
Artigo
em Inglês
| MEDLINE | ID: mdl-27087320
17.
De Novo Mutations in SON Disrupt RNA Splicing of Genes Essential for Brain Development and Metabolism, Causing an Intellectual-Disability Syndrome.
Am J Hum Genet
; 99(3): 711-719, 2016 09 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-27545680
18.
Short stature as a presenting symptom of attenuated Mucopolysaccharidosis type I: case report and clinical insights.
BMC Endocr Disord
; 18(1): 83, 2018 Nov 12.
Artigo
em Inglês
| MEDLINE | ID: mdl-30419879
19.
A Germline Variant in the PANX1 Gene Has Reduced Channel Function and Is Associated with Multisystem Dysfunction.
J Biol Chem
; 291(24): 12432-12443, 2016 Jun 10.
Artigo
em Inglês
| MEDLINE | ID: mdl-27129271
20.
De Novo Variants Disrupting the HX Repeat Motif of ATN1 Cause a Recognizable Non-progressive Neurocognitive Syndrome.
Am J Hum Genet
; 104(4): 778, 2019 Apr 04.
Artigo
em Inglês
| MEDLINE | ID: mdl-30929740