David Valle

Professor

1971 …2020

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Article
2020

Natural history of Ollier disease and Maffucci syndrome: Patient survey and review of clinical literature

El Abiad, J. M., Robbins, S. M., Cohen, B., Levin, A. S., Valle, D. L., Morris, C. D. & de Macena Sobreira, N. L., May 1 2020, In : American Journal of Medical Genetics, Part A. 182, 5, p. 1093-1103 11 p.

Research output: Contribution to journalArticle

The utility of exome sequencing for fetal pleural effusions

Jelin, A. C., Sobreira, N., Wohler, E., Solomon, B., Sparks, T., Sagaser, K. G., Forster, K. R., Miller, J., Witmer, P. D., Hamosh, A., Valle, D. & Blakemore, K., Apr 1 2020, In : Prenatal Diagnosis. 40, 5, p. 590-595 6 p.

Research output: Contribution to journalArticle

2019

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

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, Jul 1 2019, In : Genetics in Medicine. 21, 7, p. 1548-1558 11 p.

Research output: Contribution to journalArticle

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 2018, In : PloS one. 13, 7, e0200423.

Research output: Contribution to journalArticle

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

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

2017

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

Moebius Syndrome Research Consortium, Oct 2017, In : American Journal of Medical Genetics, Part A. 173, 10, p. 2763-2771 9 p.

Research output: Contribution to journalArticle

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

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

Guo, W., Samuels, J. F., Wang, Y., Cao, H., Ritter, M., Nestadt, P. S., Krasnow, J., Greenberg, B. D., Fyer, A. J., McCracken, J. T., Geller, D. A., Murphy, D. L., Knowles, J. A., Grados, M. A., 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 2017, In : European Neuropsychopharmacology. 27, 7, p. 657-666 10 p.

Research output: Contribution to journalArticle

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

Umanah, G. K. E., 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. V., Pulver, A. E., Avramopoulos, D., Bonci, A. & 3 others, Valle, D., Dawson, T. M. & Dawson, V. L., Dec 13 2017, In : Science translational medicine. 9, 420, aah4985.

Research output: Contribution to journalArticle

2016

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

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

You, J., Sobreira, N. L., 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., May 5 2016, In : American journal of human genetics. 98, 5, p. 909-918 10 p.

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

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

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

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

Qin, H., Samuels, J. F., Wang, Y., Zhu, Y., Grados, M. A., 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

2015

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

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

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

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., Jan 1 2015, In : Current Molecular Medicine. 15, 2, p. 138-145 8 p.

Research output: Contribution to journalArticle

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. I. & Ishizuka, K., Dec 2015, In : Neuroscience Research. 101, p. 57-61 5 p.

Research output: Contribution to journalArticle

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, M. 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

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

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

Mattheisen, M., Samuels, J. F., Wang, Y., Greenberg, B. D., Fyer, A. J., Mccracken, J. T., Geller, D. A., Murphy, D. L., Knowles, J. A., Grados, M. A., 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

2014

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. A. S., Chen, Y., Chelko, S., Crosson, J. E., 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. F. & Judge, D. P., Mar 4 2014, In : Nature communications. 5, 3416.

Research output: Contribution to journalArticle

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

Hoover-Fong, J., Sobreira, N., Jurgens, J., Modaff, P., Blout, C., Moser, A., 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. F., 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

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. F., 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

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

Migliavacca, M. P., Sobreira, N. L. M., 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., May 2014, In : American Journal of Medical Genetics, Part A. 164, 5, p. 1170-1174 5 p.

Research output: Contribution to journalArticle

2013

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, p. E507-E516

Research output: Contribution to journalArticle

Multiple variants aggregate in the neuregulin signaling pathway in a subset of schizophrenia patients

Hatzimanolis, A., McGrath, J. A., Wang, R., Li, T., Wong, P. C., Nestadt, G., Wolyniec, P. S., Valle, D., Pulver, A. E. & Avramopoulos, D., Jun 11 2013, In : Translational psychiatry. 3, e264.

Research output: Contribution to journalArticle

PhenoDB: A New Web-Based Tool for the Collection, Storage, and Analysis of Phenotypic Features

Hamosh, A., Sobreira, N., Hoover-Fong, J., Sutton, V. R., Boehm, C., Schiettecatte, F. & Valle, D., Apr 1 2013, In : Human mutation. 34, 4, p. 566-571 6 p.

Research output: Contribution to journalArticle

2012

Homeobox genes in obsessive-compulsive disorder

Nestadt, G., Wang, Y., Grados, M. A., Riddle, M. A., Greenberg, B. D., Knowles, J. A., Fyer, A. J., Mccracken, J. T., Rauch, S. L., Murphy, D. L., Rasmussen, S. A., Cullen, B., Piacentini, J., Geller, D., Pauls, D., Bienvenu, O. J., Chen, Y., Liang, K. Y., Goes, F. S., Maher, B. & 5 others, Pulver, A. E., Shugart, Y. Y., Valle, D., Samuels, J. F. & Chang, Y. C., Jan 1 2012, In : American Journal of Medical Genetics, Part B: Neuropsychiatric Genetics. 159 B, 1, p. 53-60 8 p.

Research output: Contribution to journalArticle

SynaptomeDB: An ontology-based knowledgebase for synaptic genes

Pirooznia, M., Wang, T., Avramopoulos, D., Valle, D., Thomas, G., Huganir, R. L., Goes, F. S., Potash, J. B. & Zandi, P. P., Mar 2012, In : Bioinformatics. 28, 6, p. 897-899 3 p., bts040.

Research output: Contribution to journalArticle

2011

Characterization of complex chromosomal rearrangements by targeted capture and next-generation sequencing

Sobreira, N. L. M., Gnanakkan, V., Walsh, M., Marosy, B., Wohler, E., Thomas, G., Hoover-Fong, J. E., Hamosh, A., Wheelan, S. J. & Valle, D., Oct 1 2011, In : Genome research. 21, 10, p. 1720-1727 8 p.

Research output: Contribution to journalArticle

Gain-of-function glutamate receptor interacting protein 1 variants alter GluA2 recycling and surface distribution in patients with autism

Mejias, R., Adamczyk, A., Anggono, V., Niranjan, T., Thomas, G. M., Sharma, K., Skinner, C., Schwartz, C. E., Stevenson, R. E., Fallin, M. D., Kaufmann, W., Pletnikov, M., Valle, D., Huganir, R. L. & Wang, T., Mar 22 2011, In : Proceedings of the National Academy of Sciences of the United States of America. 108, 12, p. 4920-4925 6 p.

Research output: Contribution to journalArticle

Linkage and association on 8p21.2-p21.1 in schizophrenia

Fallin, M. D., Lasseter, V. K., Liu, Y., Avramopoulos, D., McGrath, J., Wolyniec, P. S., Nestadt, G., Liang, K. Y., Chen, P. L., Valle, D. & Pulver, A. E., Mar 1 2011, In : American Journal of Medical Genetics, Part B: Neuropsychiatric Genetics. 156, 2, p. 188-197 10 p.

Research output: Contribution to journalArticle

2010

A screen of SLC1A1 for OCD-related alleles

Wang, Y., Adamczyk, A., Shugart, Y. Y., Samuels, J. F., Grados, M. A., Greenberg, B. D., Knowles, J. A., McCracken, J. T., Rauch, S. L., Murphy, D. L., Rasmussen, S. A., Cullen, B., Pinto, A., Fyer, A. J., Piacentini, J., Pauls, D. L., Bienvenu, O. J., Riddle, M., Liang, K. Y., Valle, D. & 2 others, Wang, T. & Nestadt, G., Mar 1 2010, In : American Journal of Medical Genetics, Part B: Neuropsychiatric Genetics. 153, 2, p. 675-679 5 p.

Research output: Contribution to journalArticle

Detection of SNP-SNP interactions in trios of parents with schizophrenic children

Li, Q., Fallin, M. D., Louis, T. A., Lasseter, V. K., McGrath, J. A., Avramopoulos, D., Wolyniec, P. S., Valle, D., Liang, K. Y., Pulver, A. E. & Ruczinski, I., Jul 1 2010, In : Genetic epidemiology. 34, 5, p. 396-406 11 p.

Research output: Contribution to journalArticle

"genes to society"-The logic and process of the new curriculum for the Johns Hopkins University School of Medicine

Wiener, C. M., Thomas, P. A., Goodspeed, E., Valle, D. & Nichols, D. G., Mar 2010, In : Academic Medicine. 85, 3, p. 498-506 9 p.

Research output: Contribution to journalArticle

Making evolutionary biology a basic science for medicine

Nesse, R. M., Bergstrom, C. T., Ellison, P. T., Flier, J. S., Gluckman, P., Govindaraju, D. R., Niethammer, D., Omenn, G. S., Perlman, R. L., Schwartz, M. D., Thomas, M. G., Stearns, S. C. & Valle, D., Jan 26 2010, In : Proceedings of the National Academy of Sciences of the United States of America. 107, SUPPL. 1, p. 1800-1807 8 p.

Research output: Contribution to journalArticle

Microdeletions of 3q29 confer high risk for schizophrenia

Mulle, J. G., Dodd, A. F., McGrath, J. A., Wolyniec, P. S., Mitchell, A. A., Shetty, A. C., Sobreira, N. L., Valle, D., Rudd, M. K., Satten, G., Cutler, D. J., Pulver, A. E. & Warren, S. T., Aug 13 2010, In : American journal of human genetics. 87, 2, p. 229-236 8 p.

Research output: Contribution to journalArticle

miRNA mutations are not a common cause of deafness

Hildebrand, M. S., Witmer, P. D., Xu, S., Newton, S. S., Kahrizi, K., Najmabadi, H., Valle, D. & Smith, R. J. H., Mar 1 2010, In : American Journal of Medical Genetics, Part A. 152, 3, p. 646-652 7 p.

Research output: Contribution to journalArticle

Mobile interspersed repeats are major structural variants in the human genome

Huang, C. R. L., Schneider, A. M., Lu, Y., Niranjan, T., Shen, P., Robinson, M. A., Steranka, J. P., Valle, D., Civin, C. I., Wang, T., Wheelan, S. J., Ji, H., Boeke, J. D. & Burns, K. H., Jun 1 2010, In : Cell. 141, 7, p. 1171-1182 12 p.

Research output: Contribution to journalArticle