David Valle

Professor

1971 …2019
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Research Output 1971 2019

2019

2018 Victor A. McKusick Leadership Award Introduction: James R. Lupski

Valle, D., Mar 7 2019, In : American journal of human genetics. 104, 3, p. 389-390 2 p.

Research output: Contribution to journalComment/debate

Apparent acetaminophen toxicity in a patient with transaldolase deficiency

Lee-Barber, J., English, T. E., Britton, J. F., Sobreira, N., Goldstein, J., Valle, D. & Bjornsson, H. T., Jan 1 2019, JIMD Reports. Springer, p. 9-15 7 p. (JIMD Reports; vol. 44).

Research output: Chapter in Book/Report/Conference proceedingChapter

Transaldolase
Acetaminophen
Toxicity
Liver
Liver Failure

Bioinformatics-Based Identification of Expanded Repeats: A Non-reference Intronic Pentamer Expansion in RFC1 Causes CANVAS

Rafehi, H., Szmulewicz, D. J., Bennett, M. F., Sobreira, N. L. M., Pope, K., Smith, K. R., Gillies, G., Diakumis, P., Dolzhenko, E., Eberle, M. A., Barcina, M. G., Breen, D. P., Chancellor, A. M., Cremer, P. D., Delatycki, M. B., Fogel, B. L., Hackett, A., Halmagyi, G. M., Kapetanovic, S., Lang, A. & 13 others, Mossman, S., Mu, W., Patrikios, P., Perlman, S. L., Rosemergy, I., Storey, E., Watson, S. R. D., Wilson, M. A., Zee, D. S., Valle, D., Amor, D. J., Bahlo, M. & Lockhart, P. J., Jul 3 2019, In : American journal of human genetics. 105, 1, p. 151-165 15 p.

Research output: Contribution to journalArticle

Open Access
Cerebellar Ataxia
Computational Biology
Genome
Alu Elements
Molecular Medicine
Exome
Essential Genes
Second Pregnancy Trimester
First Pregnancy Trimester
Pregnancy

Insights into genetics, human biology and disease gleaned from family based genomic studies

Centers for Mendelian Genomics, Jan 1 2019, (Accepted/In press) In : Genetics in Medicine.

Research output: Contribution to journalArticle

Medical Genetics
Genomics
Rare Diseases
Human Genome
Genes

ROBO4 variants predispose individuals to bicuspid aortic valve and thoracic aortic aneurysm

Baylor-Hopkins Center for Mendelian Genomics & MIBAVA Leducq consortium, Jan 1 2019, In : Nature Genetics. 51, 1, p. 42-50 9 p.

Research output: Contribution to journalLetter

Thoracic Aortic Aneurysm
Aortic Aneurysm
Congenital Heart Defects
Penetrance
Endothelial Cells

TBX6-associated congenital scoliosis (TACS) as a clinically distinguishable subtype of congenital scoliosis: further evidence supporting the compound inheritance and TBX6 gene dosage model

Deciphering Disorders Involving Scoliosis and COmorbidities (DISCO) study, Japan Early Onset Scoliosis Research Group & Baylor-Hopkins Center for Mendelian Genomics, Jan 1 2019, (Accepted/In press) In : Genetics in Medicine.

Research output: Contribution to journalArticle

Gene Dosage
Scoliosis
Endophenotypes
Spine
Butterflies
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., Tang, M., Shin, E., Schwarz, K. & O’Brien, S. J., Jul 1 2018, In : PLoS One. 13, 7, e0200423.

Research output: Contribution to journalArticle

autoimmune hepatitis
Autoimmune Hepatitis
Russia
Genes
Genome

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., 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

Phosphatidylinositols
Developmental Bone Disease
Growth Disorders
Genes
Exome

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

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

Research output: Contribution to journalArticle

Transverse Myelitis
Siblings
Exome
Leg
Neuromyelitis Optica
2017

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
Technology
Costs and Cost Analysis
Genomics
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
Siblings
Lamin Type A
Gene Frequency
Type 2 Diabetes Mellitus
Hispanic Americans
African Americans

Patients with a Kabuki syndrome phenotype demonstrate DNA methylation abnormalities

Sobreira, N., Brucato, M., Zhang, L., Ladd-Acosta, C. M., Ongaco, C., Romm, J., Doheny, K., Mingroni-Netto, R. C., Bertola, D., Kim, C. A., Perez, A. B., Melaragno, M. I., Valle, D., Meloni, V. A. & Bjornsson, H. T., Dec 1 2017, In : European Journal of Human Genetics. 25, 12, p. 1335-1344 10 p.

Research output: Contribution to journalArticle

DNA Methylation
Phenotype
Histones
Histone Code
Genes

Polygenic risk score and heritability estimates reveals a genetic relationship between ASD and OCD

Guo, W., Samuels, J., Wang, Y., Cao, H., Ritter, M., Nestadt, P., Krasnow, J., Greenberg, B. D., Fyer, A. J., McCracken, J. T., Geller, D. A., Murphy, D. L., Knowles, J. A., Grados, M., Riddle, M. A., Rasmussen, S. A., McLaughlin, N. C., Nurmi, E. L., Askland, K. D., Cullen, B. A. & 12 others, Piacentini, J., Pauls, D. L., Bienvenu, O. J., Stewart, S. E., Goes, F. S., Maher, B., Pulver, A. E., Valle, D., Mattheisen, M., Qian, J., Nestadt, G. & Shugart, Y. Y., Jul 1 2017, In : European Neuropsychopharmacology. 27, 7, p. 657-666 10 p.

Research output: Contribution to journalArticle

Obsessive-Compulsive Disorder
Genome-Wide Association Study
Genome
Chromosomes, Human, Pair 16
Nuclear Family

Skeletal dysplasias: Growing therapy for growing bones

Jelin, A., O'Hare, E., Blakemore, K., Jelin, E., Valle, D. & Hoover Fong, J. E., Mar 6 2017, In : Frontiers in Pharmacology. 8, MAR, 79.

Research output: Contribution to journalReview article

Bone and Bones
Otolaryngology
Airway Obstruction
Intubation
Respiratory Insufficiency

Thorase variants are associated with defects in glutamatergic neurotransmission that can be rescued by Perampanel

Umanah, G., Pignatelli, M., Yin, X., Chen, R., Crawford, J., Neifert, S., Scarffe, L., Behensky, A. A., Guiberson, N., Chang, M., Ma, E., Kim, J. W., Castro, C. C., Mao, X., Chen, L., Andrabi, S. A., Pletnikov, M., Pulver, A. E., Avramopoulos, D., Bonci, A. & 3 others, Valle, D., Dawson, T. M. & Dawson, V., Dec 13 2017, In : Science Translational Medicine. 9, 420, aah4985.

Research output: Contribution to journalArticle

Synaptic Transmission
Acids
Neuronal Plasticity
United States Food and Drug Administration
Adenosine Triphosphatases
2016

2015 Victor A. McKusick Leadership Award Introduction: Charles Scriver

Valle, D., Mar 3 2016, In : American Journal of Human Genetics. 98, 3, p. 431-432 2 p.

Research output: Contribution to journalComment/debate

A germline ERBB3 variant is a candidate for predisposition to erythroid MDS/erythroleukemia

Braunstein, E., Li, R., Sobreira, N., Marosy, B., Hetrick, K., Doheny, K., Gocke, C., Valle, D., Brodsky, R. A. & Cheng, L., Jul 15 2016, (Accepted/In press) In : Leukemia.

Research output: Contribution to journalArticle

Gonadal mosaicism in ARID1B gene causes intellectual disability and dysmorphic features in three siblings

Ben-Salem, S., Sobreira, N., Akawi, N. A., Al-Shamsi, A. M., John, A., Pramathan, T., Valle, D., Ali, B. R. & Al-Gazali, L., Jan 1 2016, In : American Journal of Medical Genetics, Part A. 170, 1, p. 156-161 6 p.

Research output: Contribution to journalArticle

Protein Interaction Domains and Motifs
Mosaicism
Intellectual Disability
Siblings
Genes

Lessons learned from the search for genes responsible for rare mendelian disorders

Sobreira, N. & Valle, D., Jul 1 2016, In : Molecular Genetics and Genomic Medicine. 4, 4, p. 371-375 5 p.

Research output: Contribution to journalComment/debate

Open Access
Genes

The DPYSL2 gene connects mTOR and schizophrenia

Pham, X., Song, G., Lao, S., Goff, L., Zhu, H., Valle, D. & Avramopoulos, D., Nov 1 2016, In : Translational Psychiatry. 6, 11, e933.

Research output: Contribution to journalArticle

Sirolimus
Schizophrenia
Nucleotides
Genes
Clustered Regularly Interspaced Short Palindromic Repeats

The Genome Project–Write

Boeke, J. D., Church, G., Hessel, A., Kelley, N. J., Arkin, A., Cai, Y., Carlson, R., Chakravarti, A., Cornish, V. W., Holt, L., Isaacs, F. J., Kuiken, T., Lajoie, M., Lessor, T., Lunshof, J., Maurano, M. T., Mitchell, L. A., Rine, J., Rosser, S., Sanjana, N. E. & 5 others, Silver, P. A., Valle, D., Wang, H., Way, J. C. & Yang, L., Jun 2 2016, (Accepted/In press) In : Science. p. 1-3 3 p.

Research output: Contribution to journalArticle

project assessment
Human Genome Project
genetic engineering
Genetic Engineering
technological development

The management of pregnancy and delivery in 3-hydroxy-3-methylglutaryl-CoA lyase deficiency

Pipitone, A., Raval, D. B., Duis, J., Vernon, H. J., Martin, R., Hamosh, A., Valle, D. & Gunay-Aygun, M., 2016, (Accepted/In press) In : American Journal of Medical Genetics, Part A.

Research output: Contribution to journalArticle

Lyases
Coenzyme A
Pregnancy
Carnitine
Acidosis

Whole-genome association analysis of treatment response in obsessive-compulsive disorder

Qin, H., Samuels, J., Wang, Y., Zhu, Y., Grados, M., Riddle, M. A., Greenberg, B. D., Knowles, J. A., Fyer, A. J., McCracken, J. T., Murphy, D. L., Rasmussen, S. A., Cullen, B. A., Piacentini, J., Geller, D., Stewart, S. E., Pauls, D., Bienvenu, O. J., Goes, F. S., Maher, B. & 10 others, Pulver, A. E., Valle, D., Lange, C., Mattheisen, M., McLaughlin, N. C., Liang, K. Y., Nurmi, E. L., Askland, K. D., Nestadt, G. & Shugart, Y. Y., Feb 1 2016, In : Molecular Psychiatry. 21, 2, p. 270-276 7 p.

Research output: Contribution to journalArticle

Genome-Wide Association Study
Obsessive-Compulsive Disorder
Serotonin Uptake Inhibitors
Single Nucleotide Polymorphism
Therapeutics
2015

2014 Victor A. McKusick Leadership Award

Valle, D., Mar 5 2015, In : American Journal of Human Genetics. 96, 3, p. 374-376 3 p.

Research output: Contribution to journalArticle

21st Century History
20th Century History
Medical Genetics
Developmental Bone Disease
Mutation
Genes
Exome
Natural History

A novel bile acid biosynthesis defect due to a deficiency of peroxisomal ABCD3

Ferdinandusse, S., Jimenez-Sanchez, G., Koster, J., Denis, S., Van Roermund, C. W., Silva-Zolezzi, I., Moser, A. B., Visser, W. F., Gulluoglu, M., Durmaz, O., Demirkol, M., Waterham, H. R., Gökcay, G., Wanders, R. J. A. & Valle, D., Jan 15 2015, In : Human Molecular Genetics. 24, 2, p. 361-370 10 p., ddu448.

Research output: Contribution to journalArticle

Bile Acids and Salts
Peroxisomes
Liver Diseases
Fatty Acids
Phytanic Acid

Assessment of incidental findings in 232 whole-exome sequences from the Baylor-Hopkins Center for Mendelian Genomics

Jurgens, J., Ling, H., Hetrick, K., Pugh, E., Schiettecatte, F., Doheny, K., Hamosh, A., Avramopoulos, D., Valle, D. & Sobreira, N., Oct 1 2015, In : Genetics in Medicine. 17, 10, p. 782-788 7 p.

Research output: Contribution to journalArticle

Exome
Incidental Findings
Genomics
Databases
Genes

A Syndromic Intellectual Disability Disorder Caused by Variants in TELO2, a Gene Encoding a Component of the TTT Complex

You, J., Sobreira, N., Gable, D. L., Jurgens, J., Grange, D. K., Belnap, N., Siniard, A., Szelinger, S., Schrauwen, I., Richholt, R. F., Vallee, S. E., Dinulos, M. B. P., Valle, D., Armanios, M. & Hoover Fong, J. E., Sep 22 2015, (Accepted/In press) In : American Journal of Human Genetics.

Research output: Contribution to journalArticle

Phosphatidylinositol 3-Kinase
Intellectual Disability
Protein Kinases
Genes
Fibroblasts

Cardiovascular pathologies in mucopolysaccharidosis type VII (Sly Syndrome)

Gniadek, T. J., Singer, N., Barker, N. J., Spevak, P. J., Crain, B. J., Valle, D. & Halushka, M. K., Sep 1 2015, In : Cardiovascular Pathology. 24, 5, p. 322-326 5 p., 6847.

Research output: Contribution to journalArticle

Mucopolysaccharidosis VII
Pathology
Autopsy
Arteries
Tunica Intima

Clinical utility of neuronal cells directly converted from fibroblasts of patients for neuropsychiatric disorders: Studies of lysosomal storage diseases and channelopathy

Kano, S., Yuan, M., Cardarelli, R. A., Maegawa, G., Higurashi, N., Gaval-Cruz, M., Wilson, A. M., Tristan, C., Kondo, M. A., Chen, Y., Koga, M., Obie, C., Ishizuka, K., Seshadri, S., Srivastava, R., Kato, T. A., Horiuchi, Y., Sedlak, T. W., Lee, Y., Rapoport, J. L. & 6 others, Hirose, S., Okano, H., Valle, D., O’Donnell, P., Sawa, A. & Kai, M., 2015, In : Current Molecular Medicine. 15, 2, p. 138-145 8 p.

Research output: Contribution to journalArticle

Channelopathies
Lysosomal Storage Diseases
Fibroblasts
Myoclonic Epilepsy
Tay-Sachs Disease

Enhanced conversion of induced neuronal cells (iN cells) from human fibroblasts: Utility in uncovering cellular deficits in mental illness-associated chromosomal abnormalities

Passeri, E., Wilson, A. M., Primerano, A., Kondo, M. A., Sengupta, S., Srivastava, R., Koga, M., Obie, C., Zandi, P. P., Goes, F. S., Valle, D., Rapoport, J. L., Sawa, A., Kano, S. & Ishizuka, K., Dec 1 2015, In : Neuroscience Research. 101, p. 57-61 5 p.

Research output: Contribution to journalArticle

Chromosome Aberrations
Fibroblasts
Cell Culture Techniques
Phenotype
Induced Pluripotent Stem Cells

Functional variants in DPYSL2 sequence increase risk of schizophrenia and suggest a link to mTOR signaling

Liu, Y., Pham, X., Zhang, L., Chen, P. L., Burzynski, G., McGaughey, D. M., He, S., McGrath, J. A., Wolyniec, P., Fallin, D. D., Pierce, M. S., McCallion, A. S., Pulver, A. E., Avramopoulos, D. & Valle, D., 2015, In : G3: Genes, Genomes, Genetics. 5, 1, p. 61-72 12 p.

Research output: Contribution to journalArticle

Single Nucleotide Polymorphism
Schizophrenia
Haplotypes
Dinucleotide Repeats
Sirolimus

GeneMatcher: A Matching Tool for Connecting Investigators with an Interest in the Same Gene

Sobreira, N., Schiettecatte, F., Valle, D. & Hamosh, A., Oct 1 2015, In : Human Mutation. 36, 10, p. 928-930 3 p.

Research output: Contribution to journalArticle

Research Personnel
Phenotype
Genes
Genetic Databases
Genomics
Heterogeneous-Nuclear Ribonucleoprotein K
Intellectual Disability
Connective Tissue
Research Personnel
Exome

Genome-wide association study in obsessive-compulsive disorder: Results from the OCGAS

Mattheisen, M., Samuels, J., Wang, Y., Greenberg, B. D., Fyer, A. J., Mccracken, J. T., Geller, D. A., Murphy, D. L., Knowles, J. A., Grados, M., Riddle, M. A., Rasmussen, S. A., Mclaughlin, N. C., Nurmi, E. L., Askland, K. D., Qin, H. D., Cullen, B. A., Piacentini, J., Pauls, D. L., Bienvenu, O. J. & 9 others, Stewart, S. E., Liang, K. Y., Goes, F. S., Maher, B., Pulver, A. E., Shugart, Y. Y., Valle, D., Lange, C. & Nestadt, G., Mar 12 2015, In : Molecular Psychiatry. 20, 3, p. 337-344 8 p.

Research output: Contribution to journalArticle

Genome-Wide Association Study
Obsessive-Compulsive Disorder
Genetic Association Studies
Synapses
Single Nucleotide Polymorphism

New Arab family with cerebral dysgenesis, neuropathy, ichthyosis and keratoderma syndrome suggests a possible founder effect for the c.223delG mutation

Ben-Salem, S., Sobreira, N., Al-Shamsi, A. M., Valle, D., Ali, B. R. & Al-Gazali, L., Aug 1 2015, In : Journal of Dermatology. 42, 8, p. 821-822 2 p.

Research output: Contribution to journalArticle

Qc-SNARE Proteins
Qb-SNARE Proteins
Palmoplantar Keratoderma
Neurocutaneous Syndromes
Founder Effect
Research Personnel
Causality
Genes
Exome
Phenotype
Proteolipids
Endoplasmic Reticulum Stress
Ischemia
Apoptosis
Wounds and Injuries

The Genetic Basis of Mendelian Phenotypes: Discoveries, Challenges, and Opportunities

Chong, J. X., Buckingham, K. J., Jhangiani, S. N., Boehm, C., Sobreira, N., Smith, J. D., Harrell, T. M., McMillin, M. J., Wiszniewski, W., Gambin, T., Coban Akdemir, Z. H., Doheny, K., Scott, A. F., Avramopoulos, D., Chakravarti, A., Hoover Fong, J. E., Mathews, D. J., Witmer, P. D., Ling, H., Hetrick, K. & 22 others, Watkins, L., Patterson, K. E., Reinier, F., Blue, E., Muzny, D., Kircher, M., Bilguvar, K., López-Giráldez, F., Sutton, V. R., Tabor, H. K., Leal, S. M., Gunel, M., Mane, S., Gibbs, R. A., Boerwinkle, E., Hamosh, A., Shendure, J., Lupski, J. R., Lifton, R. P., Valle, D., Nickerson, D. A. & Bamshad, M. J., Aug 6 2015, In : American Journal of Human Genetics. 97, 2, p. 199-215 17 p., 1908.

Research output: Contribution to journalArticle

Phenotype
Genes
Genomics
Research Personnel
Exome
2014
Methylmalonic Acid
Liver Transplantation
Kidney Transplantation
Renal Dialysis
Transplants

Guidelines for investigating causality of sequence variants in human disease

MacArthur, D. G., Manolio, T. A., Dimmock, D. P., Rehm, H. L., Shendure, J., Abecasis, G. R., Adams, D. R., Altman, R. B., Antonarakis, S. E., Ashley, E. A., Barrett, J. C., Biesecker, L. G., Conrad, D. F., Cooper, G. M., Cox, N. J., Daly, M. J., Gerstein, M. B., Goldstein, D. B., Hirschhorn, J. N., Leal, S. M. & 7 others, Pennacchio, L. A., Stamatoyannopoulos, J. A., Sunyaev, S. R., Valle, D., Voight, B. F., Winckler, W. & Gunter, C., 2014, In : Nature. 508, 7497, p. 469-476 8 p.

Research output: Contribution to journalArticle

Causality
Guidelines
Human Genome
Virulence
Research

Mutations in Alström protein impair terminal differentiation of cardiomyocytes

Shenje, L. T., Andersen, P., Halushka, M. K., Lui, C., Fernandez, L., Collin, G. B., Amat-Alarcon, N., Meschino, W., Cutz, E., Chang, K., Yonescu, R., Batista, D., Chen, Y., Chelko, S., Crosson, J., Scheel, J., Vricella, L., Craig, B. D., Marosy, B. A., Mohr, D. W. & 8 others, Hetrick, K. N., Romm, J. M., Scott, A. F., Valle, D., Naggert, J. K., Kwon, C., Doheny, K. & Judge, D. P., Mar 4 2014, In : Nature Communications. 5, 3416.

Research output: Contribution to journalArticle

mutations
Cardiac Myocytes
Cells
proteins
cell division

Mutations in PCYT1A, encoding a key regulator of phosphatidylcholine metabolism, cause spondylometaphyseal dysplasia with cone-rod dystrophy

Hoover Fong, J. E., Sobreira, N., Jurgens, J., Modaff, P., Blout, C., Moser, A. B., Kim, O. H., Cho, T. J., Cho, S. Y., Kim, S. J., Jin, D. K., Kitoh, H., Park, W. Y., Ling, H., Hetrick, K. N., Doheny, K., Valle, D. & Pauli, R. M., Jan 2 2014, In : American Journal of Human Genetics. 94, 1, p. 105-112 8 p.

Research output: Contribution to journalArticle

Phosphatidylcholines
Mutation
Spondylometaphyseal Dysplasia with Cone-Rod Dystrophy

Novel deletion of SERPINF1 causes autosomal recessive osteogenesis imperfecta type VI in two Brazilian families

Minillo, R. M., Sobreira, N., De Fatima De Faria Soares, M., Jurgens, J., Ling, H., Hetrick, K. N., Doheny, K., Valle, D., Brunoni, D. & Perez, A. B. A., Dec 25 2014, In : Molecular Syndromology. 5, 6, p. 268-275 8 p.

Research output: Contribution to journalArticle

Osteogenesis Imperfecta
Serpins
Founder Effect
Phenotype
Brazil

Sclerocornea in a patient with van den Ende-Gupta syndrome homozygous for a SCARF2 microdeletion

Migliavacca, M. P., Sobreira, N., Antonialli, G. P. M., Oliveira, M. M., Melaragno, M. I. S. A., Casteels, I., de Ravel, T., Brunoni, D., Valle, D. & Perez, A. B. A., 2014, In : American Journal of Medical Genetics, Part A. 164, 5, p. 1170-1174 5 p.

Research output: Contribution to journalArticle

Blepharophimosis
Eye Abnormalities
DiGeorge Syndrome
Viverridae
Phenotype
2013

Implementing genomic medicine in the clinic: The future is here

Manolio, T. A., Chisholm, R. L., Ozenberger, B., Roden, D. M., Williams, M. S., Wilson, R., Bick, D., Bottinger, E. P., Brilliant, M. H., Eng, C., Frazer, K. A., Korf, B., Ledbetter, D. H., Lupski, J. R., Marsh, C., Mrazek, D., Murray, M. F., O'Donnell, P. H., Rader, D. J., Relling, M. V. & 5 others, Shuldiner, A. R., Valle, D., Weinshilboum, R., Green, E. D. & Ginsburg, G. S., Apr 2013, In : Genetics in Medicine. 15, 4, p. 258-267 10 p.

Research output: Contribution to journalArticle

National Human Genome Research Institute (U.S.)
Cataloging
Knowledge Bases
Genomics
Practice Guidelines

Implementing genomic medicine in the clinic: The future is here

Manolio, T. A., Chisholm, R. L., Ozenberger, B., Roden, D. M., Williams, M. S., Wilson, R., Bick, D., Bottinger, E. P., Brilliant, M. H., Eng, C., Frazer, K. A., Korf, B., Ledbetter, D. H., Lupski, J. R., Marsh, C., Mrazek, D., Murray, M. F., O'Donnell, P. H., Rader, D. J., Relling, M. V. & 5 others, Shuldiner, A. R., Valle, D., Weinshilboum, R., Green, E. D. & Ginsburg, G. S., Sep 2013, In : Obstetrical and Gynecological Survey. 68, 9, p. 621-623 3 p.

Research output: Contribution to journalArticle

Medicine

Inactivation of the microRNA-183/96/182 cluster results in syndromic retinal degeneration

Lumayag, S., Haldin, C. E., Corbett, N. J., Wahlin, K. J., Cowan, C., Turturro, S., Larsen, P. E., Kovacs, B., Witmer, P. D., Valle, D., Zack, D. J., Nicholson, D. A. & Xu, S., Feb 5 2013, In : Proceedings of the National Academy of Sciences of the United States of America. 110, 6

Research output: Contribution to journalArticle

Retinal Degeneration
MicroRNAs
Retina
Light Signal Transduction
Embryonic Stem Cells