David Valle

Professor

1971 …2020

Research output per year

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2020

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., Jan 1 2020, (Accepted/In press) In : Prenatal Diagnosis.

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

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

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

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

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

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

2017

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

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., 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

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

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

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 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

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., 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

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

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

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

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., 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. & Ishizuka, K., Dec 1 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, 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

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., 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

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

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

2014

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

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 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

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

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

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

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

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

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., 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. E., Sutton, V. R., Boehm, C., Schiettecatte, F. & Valle, D., Apr 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., 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. & Chang, Y. C., Jan 2012, In : American Journal of Medical Genetics - 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

The Centers for Mendelian Genomics: A new large-scale initiative to identify the genes underlying rare Mendelian conditions

Bamshad, M. J., Shendure, J. A., Valle, D., Hamosh, A., Lupski, J. R., Gibbs, R. A., Boerwinkle, E., Lifton, R. P., Gerstein, M., Gunel, M., Mane, S. & Nickerson, D. A., Jul 2012, In : American Journal of Medical Genetics, Part A. 158 A, 7, p. 1523-1525 3 p.

Research output: Contribution to journalArticle

2011

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

Sobreira, N., Gnanakkan, V., Walsh, M., Marosy, B., Wohler, E., Thomas, G., Hoover Fong, J. E., Hamosh, A., Wheelan, S. & Valle, D., Oct 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, D. 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