David Valle

Professor & Director

1971 …2018
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Research Output 1971 2018

Analytical “bake-off” of whole genome sequencing quality for the genome Russia project using a small cohort for autoimmune hepatitis

Zhernakova, D. V., Kliver, S., Cherkasov, N., Tamazian, G., Rotkevich, M., Krasheninnikova, K., Evsyukov, I., Sidorov, S., Dobrynin, P., Yurchenko, A. A., Shimansky, V., Shcherbakova, I. V., Glotov, A. S., Valle, D. L., Tang, M., Shin, E., Schwarz, K. B. & O’Brien, S. J., Jul 1 2018, In : PLoS One. 13, 7, e0200423

Research output: Contribution to journalArticle

autoimmune hepatitis
Autoimmune Hepatitis

Defect in phosphoinositide signalling through a homozygous variant in PLCB3 causes a new form of spondylometaphyseal dysplasia with corneal dystrophy

Ben-Salem, S., Robbins, S. M., Lm Sobreira, N., Lyon, A., Al-Shamsi, A. M., Islam, B. K., Akawi, N. A., John, A., Thachillath, P., Al Hamed, S., Valle, D., Ali, B. R. & Al-Gazali, L., Feb 1 2018, In : Journal of Medical Genetics. 55, 2, p. 122-130 9 p.

Research output: Contribution to journalArticle

Developmental Bone Disease
Phospholipase C beta
Growth Disorders

Familial monophasic acute transverse myelitis due to the pathogenic variant in VPS37A

Mealy, M. A., Nam, T. S., Pardo, S. J., Pardo, C. A., Sobreira, N. L., Avramopoulos, D., Valle, D., Burns, K. H. & Levy, M., Feb 1 2018, In : Neurology: Genetics. 4, 1, e213

Research output: Contribution to journalArticle

Transverse Myelitis
Neuromyelitis Optica

An evidence framework for genetic testing

Committee on the Evidence Base for Genetic Testing, Board on the Health of Select Populations, Board on Health Care Services, Health and Medicine Division & National Academies of Sciences, Engineering, and Medicine, Apr 21 2017, National Academies Press. 136 p.

Research output: Book/ReportBook

Genetic Testing
Costs and Cost Analysis
Decision Making

Identification of STAC3 variants in non-Native American families with overlapping features of Carey-Fineman-Ziter syndrome and Moebius syndrome

Telegrafi, A., Webb, B. D., Robbins, S. M., Speck-Martins, C. E., Fitzpatrick, D., Fleming, L., Redett, R., Dufke, A., Houge, G., van Harssel, J. J. T., Verloes, A., Robles, A., Manoli, I., Engle, E. C., Jabs, E. W., Valle, D., Carey, J., Hoover-Fong, J. E. & Sobreira, N. L. M., 2017, (Accepted/In press) In : American Journal of Medical Genetics, Part A.

Research output: Contribution to journalArticle

Mobius Syndrome
Muscle Hypotonia
Cleft Palate
Malignant Hyperthermia