Will never be the same twice

Architects

Publications

 

A Comprehensive Iterative Approach is Highly Effective in Diagnosing Individuals who are Exome Negative

Shashi V, Schoch K, Spillmann R, Cope H, Tan QKG, Walley N, Pena L, McConkie-Rosell A, Jiang YH, Stong N, Need AC, Undiagnosed Diseases Network, Goldstein DB. Genetics in Medicine, 2018 (in press).

 

Psychosocial Profiles of Parents of Children with Undiagnosed Diseases: Managing Well or Just Managing?

McConkie-Rosell A, Hooper SR, Pena LDM, Schoch K, Spillmann RC, Jiang YH, Cope

H; Undiagnosed Diseases Network, Palmer C, Shashi V.

J Genet Couns. 2018 Jan 2. doi: 10.1007/s10897-017-0193-5. [Epub ahead of print]

https://www.ncbi.nlm.nih.gov/pubmed/29297108

 

Looking beyond the exome: a phenotype-first approach to molecular diagnostic resolution in rare and undiagnosed diseases

Pena LDM, Jiang YH, Schoch K, Spillmann RC, Walley N, Stong N, Rapisardo Horn

S, Sullivan JA, McConkie-Rosell A, Kansagra S, Smith EC, El-Dairi M, Bellet J,

Keels MA, Jasien J, Kranz PG, Noel R, Nagaraj SK, Lark RK, Wechsler DSG, Del

Gaudio D, Leung ML, Hendon LG, Parker CC, Jones KL; Undiagnosed Diseases Network

Members, Goldstein DB, Shashi V.

Genet Med. 2018 Apr;20(4):464-469.

https://www.ncbi.nlm.nih.gov/pubmed/28914269

 

A window into living with an undiagnosed disease: Illness narratives from the Undiagnosed

Diseases Network

Spillmann RC, McConkie-Rosell A, Pena L, Jiang YH; Undiagnosed Diseases

Network, Schoch K, Walley N, Sanders C, Sullivan J, Hooper SR, Shashi V.

Orphanet J Rare Dis. 2017 Apr 17;12(1):71.

https://www.ncbi.nlm.nih.gov/pubmed/28416019

 

A Recurrent De Novo Variant in NACC1 Causes a Syndrome Characterized by Infantile Epilepsy, Cataracts, and Profound Developmental Delay

Schoch K, Meng L, Szelinger S, Bearden DR, Stray-Pedersen A, Busk OL, Stong N,

Liston E, Cohn RD, Scaglia F, Rosenfeld JA, Tarpinian J, Skraban CM, Deardorff

MA, Friedman JN, Akdemir ZC, Walley N, Mikati MA, Kranz PG, Jasien J,

McConkie-Rosell A, McDonald M, Wechsler SB, Freemark M, Kansagra S, Freedman S,

Bali D, Millan F, Bale S, Nelson SF, Lee H, Dorrani N; UCLA Clinical Genomics

Center; Undiagnosed Diseases Network, Goldstein DB, Xiao R, Yang Y, Posey JE,

Martinez-Agosto JA, Lupski JR, Wangler MF, Shashi V.

Am J Hum Genet. 2017 Feb 2;100(2):343-351.

https://www.ncbi.nlm.nih.gov/pubmed/28132692

 

The Undiagnosed Diseases Network: Accelerating Discovery about Health and Disease

Ramoni RB, Mulvihill JJ, Adams DR, Allard P, Ashley EA, Bernstein JA, Gahl WA, Hamid R, Loscalzo J, McCray AT, Shashi V, Tifft CJ; Undiagnosed Diseases Network, Wise AL.

Am J Hum Genet. 2017 Feb 2;100(2):185-192.

https://www.ncbi.nlm.nih.gov/pubmed/28157539

 

De Novo Truncating Variants in ASXL2 Are Associated with a Unique and Recognizable Clinical Phenotype

Shashi V, Pena LDM, Kim K, Burton B, Hempel M, Schoch K, Walkiewicz M,

McLaughlin HM, Cho M, Stong N, Hickey SE, Shuss CM; Undiagnosed Diseases Network,

Freemark MS, Bellet JS, Keels MA, Bonner MJ, El-Dairi M, Butler M, Kranz PG,

Stumpel CTRM, Klinkenberg S, Oberndorff K, Alawi M, Santer R, Petrovski S,

Kuismin O, Korpi-Heikkilä S, Pietilainen O, Aarno P, Kurki MI, Hoischen A, Need

AC, Goldstein DB, Kortüm F.

Am J Hum Genet. 2017 Jan 5;100(1):179.

https://www.ncbi.nlm.nih.gov/pubmed/27693232

 

Practical considerations in the clinical application of whole-exome sequencing

Shashi V, McConkie-Rosell A, Schoch K, Katsuri V, Rehder C, Jiang YH, Goldstein DB, McDonald MT (2015). Clinical Genetics. Advance online publication. doi: 10.1111/cge.12569

https://www.ncbi.nlm.nih.gov/pubmed/25678066

 

Whole exome sequencing in undiagnosed genetic diseases: Interpreting 119 trios

Zhu X, Petrovski S, Xie P, Ruzzo E, Lu YF, McSweeney KM, Ben-Zeev B, Nissenkorn A, Anikster Y, Oz-Levi D, Dhindsa RS, Hitomi Y, Schoch K, Spillmann RC, Heimer G, Marek-Yagel D, Tzadok M, Han Y, Worley G, Goldstein J, Jiang YH, Lancet D, Pras E, Shashi V, McHale D, Need AC, Goldstein DB (2015). Genetics in Medicine. Advance online publication. doi:10.1038/gim.2014.191

https://www.ncbi.nlm.nih.gov/pubmed/25590979

 

Additional evidence that the PGAP1 loss of function causes autosomal recessive global developmental delay and encephalopathy

Williams C, Jiang YH, Shashi V, Crimian R, Schoch K, Harper A, McHale D, Goldstein D, Petrovski S (2015). Clinical Genetics. Advance online publication. doi: 10.1111/cge.12581

https://www.ncbi.nlm.nih.gov/pubmed/25823418 

 

De novo mutations in NACLN cause a syndrome characterized by congenital contractures of the limbs and face, hypotonia, and developmental delay

Chong JX, McMillan MJ, Shively KM, Beck AE, Marvin CT, Amenteros JR, Buckingham KJ, Nkinsi NT, Boyle EA, Berry MN, Bocian M, Folds N, Uzielli MLG, Haldeman-Englert C, Hennekam RCM, Kaplan P, Kline AD, Mercer CL, Nowaczyk MJM, Wassink-Ruiter JSK, McPherson EW, Moreno RA, Scheuerle AE, Shashi V, Carey AC (2015). American Journal of Human Genetics, 96(3), 462-473.

https://www.ncbi.nlm.nih.gov/pubmed/25683120

 

The RBMX gene as a candidate for the Shashi X-linked intellectual disability syndrome. Clinical Genetics

Shashi V, Xie P, Schoch K, Goldstein DB, Howard TD, Berry MN, Schwartz CE, Cronin K, Sliwa S, Allen A, Need AC (2014). Advance online publication. doi: 10.1111/cge.12511

https://www.ncbi.nlm.nih.gov/pubmed/25256757

 

The utility of the traditional medical genetics diagnostic evaluation in the context of next-generation sequencing for undiagnosed genetic disorders

Shashi V, McConkie-Rosell A, Rosell B, Schoch K, Vellore K, McDonald M, Jiang YH, Xie PX, Need A, Goldstein DB (2014). Genetics in Medicine, 16(2), 176-182.

https://www.ncbi.nlm.nih.gov/pubmed/23928913

 

Mutations in NGLY1 cause an inherited disorder of the endoplasmic reticulum-associated degradation pathway

Enns GM, Shashi V, Bainbridge M, Gabmello MJ, Zahir F, Bast T, Crimian R, Schoch K, Platt J, Cox R, Bernstein JA, Scavina M, Walter RS, Bibb A, Jones M, Hegde M, Graham BH, Need AC, Oviedo A, Schaaf CP, Boyle S, Butte AJ, Chen R, Clark MJ, Haraksingh R, Cowan TM, He P, Langlois S, Zoghbi HY, Snyder M, Gibbs RA, Freeze HH, Goldstein DB (2014). Genetics in Medicine, 16(10), 751-758.

https://www.ncbi.nlm.nih.gov/pubmed/24651605

 

Clinical applications of exome sequencing in undiagnosed genetic conditions

Need AC, Shashi V, Hitomi Y, Schoch K, Shianna KV, McDonald MT, Meisler MH, Goldstein DB (2012). Journal of Medical Genetics, 49(6), 353-361.

http://jmg.bmj.com/content/early/2012/05/11/jmedgenet-2012-100819

 

 

 

 

 

 
Physicians within the network collect and share high-quality clinical and laboratory data, including genomic information, clinical observations and documentation of environmental exposures. 

Box 103857, Duke University Medical Center, Durham, NC 27710 | Tel: 919 668 1340  

Duke University Medical Center