Search details
1.
Sequencing chromosomal abnormalities reveals neurodevelopmental loci that confer risk across diagnostic boundaries.
Cell
; 149(3): 525-37, 2012 Apr 27.
Article
in English
| MEDLINE | ID: mdl-22521361
2.
Genome-wide association meta-analysis identifies 48 risk variants and highlights the role of the stria vascularis in hearing loss.
Am J Hum Genet
; 109(6): 1077-1091, 2022 06 02.
Article
in English
| MEDLINE | ID: mdl-35580588
3.
Targeted insertion of conditional expression cassettes into the mouse genome using the modified i-PITT.
BMC Genomics
; 25(1): 568, 2024 Jun 05.
Article
in English
| MEDLINE | ID: mdl-38840068
4.
ASHG 2020 Curt Stern Award introduction: Fowzan Sami Alkuraya.
Am J Hum Genet
; 108(3): 392-394, 2021 03 04.
Article
in English
| MEDLINE | ID: mdl-33667392
5.
Genome-wide association study meta-analysis of dizygotic twinning illuminates genetic regulation of female fecundity.
Hum Reprod
; 39(1): 240-257, 2024 Jan 05.
Article
in English
| MEDLINE | ID: mdl-38052102
6.
Mate-pair genome sequencing reveals structural variants for idiopathic male infertility.
Hum Genet
; 142(3): 363-377, 2023 Mar.
Article
in English
| MEDLINE | ID: mdl-36526900
7.
SYCP2 Translocation-Mediated Dysregulation and Frameshift Variants Cause Human Male Infertility.
Am J Hum Genet
; 106(1): 41-57, 2020 01 02.
Article
in English
| MEDLINE | ID: mdl-31866047
8.
Long-term health-related quality of life and symptom severity following hysterectomy, myomectomy, or uterine artery embolization for the treatment of symptomatic uterine fibroids.
Am J Obstet Gynecol
; 229(3): 275.e1-275.e17, 2023 09.
Article
in English
| MEDLINE | ID: mdl-37244458
9.
Tools for standardized data collection: Speech, Language, and Hearing measurement protocols in the PhenX Toolkit.
Ann Hum Genet
; 86(1): 45-51, 2022 01.
Article
in English
| MEDLINE | ID: mdl-34582045
10.
The Iceberg under Water: Unexplored Complexity of Chromoanagenesis in Congenital Disorders.
Am J Hum Genet
; 104(4): 565-577, 2019 04 04.
Article
in English
| MEDLINE | ID: mdl-30951674
11.
GWAS Identifies 44 Independent Associated Genomic Loci for Self-Reported Adult Hearing Difficulty in UK Biobank.
Am J Hum Genet
; 105(4): 788-802, 2019 10 03.
Article
in English
| MEDLINE | ID: mdl-31564434
12.
Genome Sequencing Explores Complexity of Chromosomal Abnormalities in Recurrent Miscarriage.
Am J Hum Genet
; 105(6): 1102-1111, 2019 12 05.
Article
in English
| MEDLINE | ID: mdl-31679651
13.
Gene therapy for hearing loss.
Hum Mol Genet
; 28(R1): R65-R79, 2019 10 01.
Article
in English
| MEDLINE | ID: mdl-31227837
14.
Low-pass genome sequencing-based detection of absence of heterozygosity: validation in clinical cytogenetics.
Genet Med
; 23(7): 1225-1233, 2021 07.
Article
in English
| MEDLINE | ID: mdl-33772221
15.
Loss of LDAH associated with prostate cancer and hearing loss.
Hum Mol Genet
; 27(24): 4194-4203, 2018 12 15.
Article
in English
| MEDLINE | ID: mdl-30169630
16.
Comprehensive clinically oriented workflow for nucleotide level resolution and interpretation in prenatal diagnosis of de novo apparently balanced chromosomal translocations in their genomic landscape.
Hum Genet
; 139(4): 531-543, 2020 Apr.
Article
in English
| MEDLINE | ID: mdl-32030560
17.
Computational Prediction of Position Effects of Apparently Balanced Human Chromosomal Rearrangements.
Am J Hum Genet
; 101(2): 206-217, 2017 Aug 03.
Article
in English
| MEDLINE | ID: mdl-28735859
18.
Low-pass genome sequencing versus chromosomal microarray analysis: implementation in prenatal diagnosis.
Genet Med
; 22(3): 500-510, 2020 03.
Article
in English
| MEDLINE | ID: mdl-31447483
19.
Structural Chromosomal Rearrangements Require Nucleotide-Level Resolution: Lessons from Next-Generation Sequencing in Prenatal Diagnosis.
Am J Hum Genet
; 99(5): 1015-1033, 2016 Nov 03.
Article
in English
| MEDLINE | ID: mdl-27745839
20.
A proposal for comprehensive newborn hearing screening to improve identification of deaf and hard-of-hearing children.
Genet Med
; 21(11): 2614-2630, 2019 11.
Article
in English
| MEDLINE | ID: mdl-31171844