Search details
1.
Functional sensory circuits built from neurons of two species.
Cell
; 187(9): 2143-2157.e15, 2024 Apr 25.
Article
in English
| MEDLINE | ID: mdl-38670072
2.
Developmental and temporal characteristics of clonal sperm mosaicism.
Cell
; 184(18): 4772-4783.e15, 2021 09 02.
Article
in English
| MEDLINE | ID: mdl-34388390
3.
Genome sequencing detects a wide range of clinically relevant copy-number variants and other genomic alterations.
Genet Med
; 26(1): 101006, 2024 Jan.
Article
in English
| MEDLINE | ID: mdl-37869996
4.
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.
Article
in English
| MEDLINE | ID: mdl-32220290
5.
Bi-allelic Loss of Human APC2, Encoding Adenomatous Polyposis Coli Protein 2, Leads to Lissencephaly, Subcortical Heterotopia, and Global Developmental Delay.
Am J Hum Genet
; 105(4): 844-853, 2019 10 03.
Article
in English
| MEDLINE | ID: mdl-31585108
6.
Mutations in LNPK, Encoding the Endoplasmic Reticulum Junction Stabilizer Lunapark, Cause a Recessive Neurodevelopmental Syndrome.
Am J Hum Genet
; 103(2): 296-304, 2018 08 02.
Article
in English
| MEDLINE | ID: mdl-30032983
7.
Biallelic Variants in OTUD6B Cause an Intellectual Disability Syndrome Associated with Seizures and Dysmorphic Features.
Am J Hum Genet
; 100(4): 676-688, 2017 Apr 06.
Article
in English
| MEDLINE | ID: mdl-28343629
8.
Regulation of human cerebral cortical development by EXOC7 and EXOC8, components of the exocyst complex, and roles in neural progenitor cell proliferation and survival.
Genet Med
; 22(6): 1040-1050, 2020 06.
Article
in English
| MEDLINE | ID: mdl-32103185
9.
MAB21L1 loss of function causes a syndromic neurodevelopmental disorder with distinctive cerebellar, ocular, craniofacial and genital features (COFG syndrome).
J Med Genet
; 56(5): 332-339, 2019 05.
Article
in English
| MEDLINE | ID: mdl-30487245
10.
Uner Tan syndrome caused by a homozygous TUBB2B mutation affecting microtubule stability.
Hum Mol Genet
; 26(2): 258-269, 2017 01 15.
Article
in English
| MEDLINE | ID: mdl-28013290
11.
Autosomal-Recessive Mutations in the tRNA Splicing Endonuclease Subunit TSEN15 Cause Pontocerebellar Hypoplasia and Progressive Microcephaly.
Am J Hum Genet
; 99(1): 228-35, 2016 Jul 07.
Article
in English
| MEDLINE | ID: mdl-27392077
12.
Autosomal-Recessive Mutations in the tRNA Splicing Endonuclease Subunit TSEN15 Cause Pontocerebellar Hypoplasia and Progressive Microcephaly.
Am J Hum Genet
; 99(3): 785, 2016 09 01.
Article
in English
| MEDLINE | ID: mdl-27588454
13.
Risk of meningomyelocele mediated by the common 22q11.2 deletion.
Science
; 384(6695): 584-590, 2024 May 03.
Article
in English
| MEDLINE | ID: mdl-38696583
14.
Comprehensive multi-omic profiling of somatic mutations in malformations of cortical development.
Nat Genet
; 55(2): 209-220, 2023 02.
Article
in English
| MEDLINE | ID: mdl-36635388
15.
Expanding the genotypic spectrum of ACTG2-related visceral myopathy.
Cold Spring Harb Mol Case Stud
; 7(3)2021 06.
Article
in English
| MEDLINE | ID: mdl-33883208
16.
Clinician-centric diagnosis of rare genetic diseases: performance of a gene pertinence metric in decision support for clinicians.
Orphanet J Rare Dis
; 15(1): 191, 2020 07 22.
Article
in English
| MEDLINE | ID: mdl-32698834
17.
Partially automated whole-genome sequencing reanalysis of previously undiagnosed pediatric patients can efficiently yield new diagnoses.
NPJ Genom Med
; 5: 33, 2020.
Article
in English
| MEDLINE | ID: mdl-32821428
18.
mTOR pathway somatic variants and the molecular pathogenesis of hemimegalencephaly.
Epilepsia Open
; 5(1): 97-106, 2020 Mar.
Article
in English
| MEDLINE | ID: mdl-32140648
19.
Mutations in PDLIM5 are rare in dilated cardiomyopathy but are emerging as potential disease modifiers.
Mol Genet Genomic Med
; 8(2): e1049, 2020 02.
Article
in English
| MEDLINE | ID: mdl-31880413
20.
Autism risk in offspring can be assessed through quantification of male sperm mosaicism.
Nat Med
; 26(1): 143-150, 2020 01.
Article
in English
| MEDLINE | ID: mdl-31873310