Search details
1.
Human embryonic genetic mosaicism and its effects on development and disease.
Nat Rev Genet
; 2024 Apr 11.
Article
in English
| MEDLINE | ID: mdl-38605218
2.
Variants in ZFX are associated with an X-linked neurodevelopmental disorder with recurrent facial gestalt.
Am J Hum Genet
; 111(3): 487-508, 2024 Mar 07.
Article
in English
| MEDLINE | ID: mdl-38325380
3.
SRSF1 haploinsufficiency is responsible for a syndromic developmental disorder associated with intellectual disability.
Am J Hum Genet
; 110(5): 790-808, 2023 05 04.
Article
in English
| MEDLINE | ID: mdl-37071997
4.
HMZDupFinder: a robust computational approach for detecting intragenic homozygous duplications from exome sequencing data.
Nucleic Acids Res
; 52(4): e18, 2024 Feb 28.
Article
in English
| MEDLINE | ID: mdl-38153174
5.
Hemizygous variants in protein phosphatase 1 regulatory subunit 3F (PPP1R3F) are associated with a neurodevelopmental disorder characterized by developmental delay, intellectual disability and autistic features.
Hum Mol Genet
; 32(20): 2981-2995, 2023 Oct 04.
Article
in English
| MEDLINE | ID: mdl-37531237
6.
Bi-allelic CAMSAP1 variants cause a clinically recognizable neuronal migration disorder.
Am J Hum Genet
; 109(11): 2068-2079, 2022 11 03.
Article
in English
| MEDLINE | ID: mdl-36283405
7.
TCEAL1 loss-of-function results in an X-linked dominant neurodevelopmental syndrome and drives the neurological disease trait in Xq22.2 deletions.
Am J Hum Genet
; 109(12): 2270-2282, 2022 12 01.
Article
in English
| MEDLINE | ID: mdl-36368327
8.
A reverse genetics and genomics approach to gene paralog function and disease: Myokymia and the juxtaparanode.
Am J Hum Genet
; 109(9): 1713-1723, 2022 09 01.
Article
in English
| MEDLINE | ID: mdl-35948005
9.
Exome variant discrepancies due to reference-genome differences.
Am J Hum Genet
; 108(7): 1239-1250, 2021 07 01.
Article
in English
| MEDLINE | ID: mdl-34129815
10.
Perturbations of genes essential for Müllerian duct and Wölffian duct development in Mayer-Rokitansky-Küster-Hauser syndrome.
Am J Hum Genet
; 108(2): 337-345, 2021 02 04.
Article
in English
| MEDLINE | ID: mdl-33434492
11.
High prevalence of multilocus pathogenic variation in neurodevelopmental disorders in the Turkish population.
Am J Hum Genet
; 108(10): 1981-2005, 2021 10 07.
Article
in English
| MEDLINE | ID: mdl-34582790
12.
Expanding the phenotype of PPP1R21-related neurodevelopmental disorder.
Clin Genet
; 2024 Feb 14.
Article
in English
| MEDLINE | ID: mdl-38356149
13.
Phenotypic heterogeneity associated with KIF21A: Two new cases and review of the literature.
Am J Med Genet A
; 194(3): e63455, 2024 Mar.
Article
in English
| MEDLINE | ID: mdl-37921537
14.
Novel LSS variants in alopecia and intellectual disability syndrome: New case report and clinical spectrum of LSS-related rare disease traits.
Clin Genet
; 104(3): 344-349, 2023 09.
Article
in English
| MEDLINE | ID: mdl-37157980
15.
A biallelic frameshift indel in PPP1R35 as a cause of primary microcephaly.
Am J Med Genet A
; 191(3): 794-804, 2023 03.
Article
in English
| MEDLINE | ID: mdl-36598158
16.
Biallelic missense variants in COG3 cause a congenital disorder of glycosylation with impairment of retrograde vesicular trafficking.
J Inherit Metab Dis
; 46(6): 1195-1205, 2023 11.
Article
in English
| MEDLINE | ID: mdl-37711075
17.
Biallelic variants in SLC38A3 encoding a glutamine transporter cause epileptic encephalopathy.
Brain
; 145(3): 909-924, 2022 04 29.
Article
in English
| MEDLINE | ID: mdl-34605855
18.
Variant-level matching for diagnosis and discovery: Challenges and opportunities.
Hum Mutat
; 43(6): 782-790, 2022 06.
Article
in English
| MEDLINE | ID: mdl-35191117
19.
Long read sequencing and expression studies of AHDC1 deletions in Xia-Gibbs syndrome reveal a novel genetic regulatory mechanism.
Hum Mutat
; 43(12): 2033-2053, 2022 12.
Article
in English
| MEDLINE | ID: mdl-36054313
20.
The clinical and molecular spectrum of QRICH1 associated neurodevelopmental disorder.
Hum Mutat
; 43(2): 266-282, 2022 02.
Article
in English
| MEDLINE | ID: mdl-34859529