Clinical Diagnosis by Targeted Sequencing Using Personal Genome Machine
Robert K. Koenekoop , Christian Buhay , Christian Buhay , Donna Muzny
Investigative Ophthalmology & Visual Science 53 ( 14) 4568 -4568
2012
Exome Sequencing: Applications From the Lab Bench to the Clinic
Matthew N. Bainbridge , Arthur L. Beaudet , Alicia C. Hawes , Christian J. Buhay
Journal of biomolecular techniques 24
2013
2012
Sequencing Centers Panel at SFAF
Jessica Hostetler , Darren Grafham , Bob Fulton , Johar Ali
2010
NexGen Production – Sequencing and Analysis
Donna Muzny
2010
Prevalence of spinocerebellar ataxia 36 in a US population (P1.057)
Daniel Geschwind , Beatriz Quintáns , Maria Jesus Sobrido , Donna Muzny
Neurology 90
2018
Chromosome Xq23 is associated with lower atherogenic lipid concentrations and favorable cardiometabolic indices.
Pradeep Natarajan , Akhil Pampana , Sarah E Graham , Sanni E Ruotsalainen
Nature Communications 12 ( 1) 2182 -2182
2021
Cross-oncopanel study reveals high sensitivity and accuracy with overall analytical performance depending on genomic regions.
Binsheng Gong , Dan Li , Rebecca Kusko , Natalia Novoradovskaya
Genome Biology 22 ( 1) 109 -109
13
2021
Author Correction: High-depth African genomes inform human migration and health.
Scott Hazelhurst , Alia Benkahla , Yasmina J. Fakim , Gaston Mazandu
Nature 592 ( 7856) 1 -1
2021
Common Coding Variants in SCN10A Are Associated With the Nav1.8 Late Current and Cardiac Conduction.
Vincenzo Macri , Jennifer A Brody , Dan E Arking , William J Hucker
Circulation: Genomic and Precision Medicine 11 ( 5)
13
2018
Prevalence of spinocerebellar ataxia 36 in a US population.
Juliana M. Valera , Tatyana Diaz , Lauren E. Petty , Beatriz Quintáns
Neurology Genetics 3 ( 4)
8
2017
Phenotypic expansion illuminates multilocus pathogenic variation.
Ender Karaca , Jennifer E Posey , Zeynep Coban Akdemir , Davut Pehlivan
Genetics in Medicine 20 ( 12) 1528 -1537
50
2018
The Somatic Genomic Landscape of Chromophobe Renal Cell Carcinoma
Caleb F Davis , Christopher J Ricketts , Min Wang , Lixing Yang
Cancer Cell 26 ( 3) 319 -330
709
2014
Deep sequencing of systematic combinatorial libraries reveals β-lactamase sequence constraints at high resolution.
Zhifeng Deng , Wanzhi Huang , Erol Bakkalbasi , Nicholas G. Brown
Journal of Molecular Biology 424 150 -167
54
2012
Sequence and analysis of chromosome 2 of Dictyostelium discoideum
Gernot Glöckner , Ludwig Eichinger , Karol Szafranski , Justin A. Pachebat
Nature 418 ( 6893) 79 -85
174
2002
FBN1 contributing to familial congenital diaphragmatic hernia.
Tyler F Beck , Philippe M Campeau , Shalini N Jhangiani , Tomasz Gambin
American Journal of Medical Genetics Part A 167 ( 4) 831 -836
15
2015
Rare variants in the notch signaling pathway describe a novel type of autosomal recessive Klippel–Feil syndrome
Ender Karaca , Ozge O Yuregir , Sevcan T Bozdogan , Huseyin Aslan
American Journal of Medical Genetics Part A 167 ( 11) 2795 -2799
33
2015
Whole exome sequencing identifies three novel mutations in ANTXR1 in families with GAPO syndrome
Yavuz Bayram , Davut Pehlivan , Ender Karaca , Tomasz Gambin
American Journal of Medical Genetics Part A 164 ( 9) 2328 -2334
13
2014
Neonatal fractures as a presenting feature of LMOD3-associated congenital myopathy.
Megan Abbott , Mahim Jain , Rachel Pferdehirt , Yuqing Chen
American Journal of Medical Genetics Part A 173 ( 10) 2789 -2794
9
2017
Whole Exome Sequencing in Atrial Fibrillation.
Steven A. Lubitz , Jennifer A. Brody , Nathan A. Bihlmeyer , Carolina Roselli
PLOS Genetics 12 ( 9)
25
2016