David Valle

Professor

1971 …2020

Research output per year

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Research Output

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., Jan 1 2020, (Accepted/In press) In : American Journal of Medical Genetics, Part A.

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

Research output: Contribution to journalArticle

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

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

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

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

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

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

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

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

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

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

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. 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

2014 Victor A. McKusick Leadership Award1

Valle, D., Mar 5 2015, In : American journal of human genetics. 96, 3, p. 374-376 3 p.

Research output: Contribution to journalComment/debate

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., 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, 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. 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

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

Ben-Salem, S., Nara, S., 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 journalLetter

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., Mathews, D., 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 journalReview article

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., Jan 1 2014, In : Nature. 508, 7497, p. 469-476 8 p.

Research output: Contribution to journalReview article

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., Sep 1 2013, In : Obstetrical and Gynecological Survey. 68, 9, p. 621-623 3 p.

Research output: Contribution to journalComment/debate