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1.
Mono-allelic KCNB2 variants lead to a neurodevelopmental syndrome caused by altered channel inactivation.
Am J Hum Genet
; 111(4): 761-777, 2024 Apr 04.
Artículo
en Inglés
| MEDLINE | ID: mdl-38503299
2.
Null and missense mutations of ERI1 cause a recessive phenotypic dichotomy in humans.
Am J Hum Genet
; 110(7): 1068-1085, 2023 07 06.
Artículo
en Inglés
| MEDLINE | ID: mdl-37352860
3.
Homozygous variant in TKFC abolishing triokinase activities is associated with isolated immunodeficiency.
J Med Genet
; 2024 May 02.
Artículo
en Inglés
| MEDLINE | ID: mdl-38697782
4.
UBR7 functions with UBR5 in the Notch signaling pathway and is involved in a neurodevelopmental syndrome with epilepsy, ptosis, and hypothyroidism.
Am J Hum Genet
; 108(1): 134-147, 2021 01 07.
Artículo
en Inglés
| MEDLINE | ID: mdl-33340455
5.
Haploinsufficiency of the Sin3/HDAC corepressor complex member SIN3B causes a syndromic intellectual disability/autism spectrum disorder.
Am J Hum Genet
; 108(5): 929-941, 2021 05 06.
Artículo
en Inglés
| MEDLINE | ID: mdl-33811806
6.
Functional studies in yeast confirm the pathogenicity of a new GINS3 Meier-Gorlin syndrome variant.
Clin Genet
; 2024 May 21.
Artículo
en Inglés
| MEDLINE | ID: mdl-38773883
7.
An adult patient with Tatton-Brown-Rahman syndrome caused by a novel DNMT3A variant and axonal polyneuropathy.
Am J Med Genet A
; 194(4): e63484, 2024 Apr.
Artículo
en Inglés
| MEDLINE | ID: mdl-38041495
8.
Biallelic variants in DNA2 cause poikiloderma with congenital cataracts and severe growth failure reminiscent of Rothmund-Thomson syndrome.
J Med Genet
; 60(11): 1127-1132, 2023 Nov.
Artículo
en Inglés
| MEDLINE | ID: mdl-37055165
9.
De Novo KAT5 Variants Cause a Syndrome with Recognizable Facial Dysmorphisms, Cerebellar Atrophy, Sleep Disturbance, and Epilepsy.
Am J Hum Genet
; 107(3): 564-574, 2020 09 03.
Artículo
en Inglés
| MEDLINE | ID: mdl-32822602
10.
The Canadian Rare Diseases Models and Mechanisms (RDMM) Network: Connecting Understudied Genes to Model Organisms.
Am J Hum Genet
; 106(2): 143-152, 2020 02 06.
Artículo
en Inglés
| MEDLINE | ID: mdl-32032513
11.
Bi-allelic Variants in the GPI Transamidase Subunit PIGK Cause a Neurodevelopmental Syndrome with Hypotonia, Cerebellar Atrophy, and Epilepsy.
Am J Hum Genet
; 106(4): 484-495, 2020 04 02.
Artículo
en Inglés
| MEDLINE | ID: mdl-32220290
12.
Evaluation of DNA Methylation Episignatures for Diagnosis and Phenotype Correlations in 42 Mendelian Neurodevelopmental Disorders.
Am J Hum Genet
; 106(3): 356-370, 2020 03 05.
Artículo
en Inglés
| MEDLINE | ID: mdl-32109418
13.
Disruption of exon-bridging interactions between the minor and major spliceosomes results in alternative splicing around minor introns.
Nucleic Acids Res
; 49(6): 3524-3545, 2021 04 06.
Artículo
en Inglés
| MEDLINE | ID: mdl-33660780
14.
Fibronectin isoforms in skeletal development and associated disorders.
Am J Physiol Cell Physiol
; 323(2): C536-C549, 2022 08 01.
Artículo
en Inglés
| MEDLINE | ID: mdl-35759430
15.
C18orf32 loss-of-function is associated with a neurodevelopmental disorder with hypotonia and contractures.
Hum Genet
; 141(8): 1423-1429, 2022 Aug.
Artículo
en Inglés
| MEDLINE | ID: mdl-35107634
16.
Variant-specific effects define the phenotypic spectrum of HNRNPH2-associated neurodevelopmental disorders in males.
Hum Genet
; 141(2): 257-272, 2022 Feb.
Artículo
en Inglés
| MEDLINE | ID: mdl-34907471
17.
Gain-of-Function Mutations in KCNN3 Encoding the Small-Conductance Ca2+-Activated K+ Channel SK3 Cause Zimmermann-Laband Syndrome.
Am J Hum Genet
; 104(6): 1139-1157, 2019 06 06.
Artículo
en Inglés
| MEDLINE | ID: mdl-31155282
18.
A Syndromic Neurodevelopmental Disorder Caused by Mutations in SMARCD1, a Core SWI/SNF Subunit Needed for Context-Dependent Neuronal Gene Regulation in Flies.
Am J Hum Genet
; 104(4): 596-610, 2019 04 04.
Artículo
en Inglés
| MEDLINE | ID: mdl-30879640
19.
Mutations in ANAPC1, Encoding a Scaffold Subunit of the Anaphase-Promoting Complex, Cause Rothmund-Thomson Syndrome Type 1.
Am J Hum Genet
; 105(3): 625-630, 2019 09 05.
Artículo
en Inglés
| MEDLINE | ID: mdl-31303264
20.
Loss of Oxidation Resistance 1, OXR1, Is Associated with an Autosomal-Recessive Neurological Disease with Cerebellar Atrophy and Lysosomal Dysfunction.
Am J Hum Genet
; 105(6): 1237-1253, 2019 12 05.
Artículo
en Inglés
| MEDLINE | ID: mdl-31785787