Nara Sobreira

Assistant Professor

20062019

Research output per year

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Research Output

2019

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

Bi-allelic Pro291Leu variant in KCNQ4 leads to early onset non-syndromic hearing loss

Ramzan, M., Idrees, H., Mujtaba, G., Sobreira, N., Witmer, P. D. & Naz, S., Jul 15 2019, In : Gene. 705, p. 109-112 4 p.

Research output: Contribution to journalArticle

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

Loss of the sphingolipid desaturase DEGS1 causes hypomyelinating leukodystrophy

Pant, D. C., Dorboz, I., Schluter, A., Fourcade, S., Launay, N., Joya, J., Aguilera-Albesa, S., Yoldi, M. E., Casasnovas, C., Willis, M. J., Ruiz, M., Ville, D., Lesca, G., Siquier-Pernet, K., Desguerre, I., Yan, H., Wang, J., Burmeister, M., Brady, L., Tarnopolsky, M. & 24 others, Cornet, C., Rubbini, D., Terriente, J., James, K. N., Musaev, D., Zaki, M. S., Patterson, M. C., Lanpher, B. C., Klee, E. W., E Vairo, F. P., Wohler, E., Sobreira, N., Cohen, J. S., Maroofian, R., Galehdari, H., Mazaheri, N., Shariati, G., Colleaux, L., Rodriguez, D., Gleeson, J. G., Pujades, C., Fatemi, A., Boespflug-Tanguy, O. & Pujol, A., Mar 1 2019, In : Journal of Clinical Investigation. 129, 3, p. 1240-1256 17 p.

Research output: Contribution to journalArticle

Open Access

Missense Pathogenic variants in KIF4A Affect Dental Morphogenesis Resulting in X-linked Taurodontism, Microdontia and Dens-Invaginatus

Gowans, L. J. J., Cameron-Christie, S., Slayton, R. L., Busch, T., Romero-Bustillos, M., Eliason, S., Sweat, M., Sobreira, N., Yu, W., Kantaputra, P. N., Wohler, E., Adeyemo, W. L., Lachke, S. A., Anand, D., Campbell, C., Drummond, B. K., Markie, D. M., van Vuuren, W. J., van Vuuren, L. J., Casamassimo, P. S. & 8 others, Ettinger, R., Owais, A., van Staden, I., Amendt, B. A., Adeyemo, A. A., Murray, J. C., Robertson, S. P. & Butali, A., Sep 20 2019, In : Frontiers in Genetics. 10, 800.

Research output: Contribution to journalArticle

Open Access

Pathogenic Variants in NUP214 Cause “Plugged” Nuclear Pore Channels and Acute Febrile Encephalopathy

Fichtman, B., Harel, T., Biran, N., Zagairy, F., Applegate, C. D., Salzberg, Y., Gilboa, T., Salah, S., Shaag, A., Simanovsky, N., Ayoubieh, H., Sobreira, N., Punzi, G., Pierri, C. L., Hamosh, A., Elpeleg, O., Harel, A. & Edvardson, S., Jul 3 2019, In : American journal of human genetics. 105, 1, p. 48-64 17 p.

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

A novel PRRT2 pathogenic variant in a family with paroxysmal kinesigenic dyskinesia and benign familial infantile seizures

Lu, J. G., Bishop, J., Cheyette, S., Zhulin, I. B., Guo, S., Sobreira, N. & Brenner, S. E., Feb 1 2018, In : Cold Spring Harbor molecular case studies. 4, 1, a002287.

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

Homozygous deletion in MYL9 expands the molecular basis of megacystis–microcolon–intestinal hypoperistalsis syndrome

Moreno, C. A., Sobreira, N., Pugh, E., Zhang, P., Steel, G., Torres, F. R. & Cavalcanti, D. P., Feb 16 2018, (Accepted/In press) In : European Journal of Human Genetics. p. 1-7 7 p.

Research output: Contribution to journalArticle

No major role for rare plectin variants in arrhythmogenic right ventricular cardiomyopathy

Hoorntje, E. T., Posafalvi, A., Syrris, P., Van Der Velde, K. J., Bolling, M. C., Protonotarios, A., Boven, L. G., Amat-Codina, N., Groeneweg, J. A., Wilde, A. A., Sobreira, N., Calkins, H., Hauer, R. N. W., Jonkman, M. F., McKenna, W. J., Elliott, P. M., Sinke, R. J., Van Den Berg, M. P., Chelko, S., James, C. A. & 3 others, Van Tintelen, J. P., Judge, D. P. & Jongbloed, J. D. H., Aug 1 2018, In : PLoS One. 13, 8, e0203078.

Research output: Contribution to journalArticle

Peripheral Cone Dystrophy: Expanded Clinical Spectrum, Multimodal and Ultrawide-Field Imaging, and Genomic Analysis

Sisk, R. A., Hufnagel, R. B., Laham, A., Wohler, E. S., Sobreira, N. & Ahmed, Z. M., Jan 1 2018, In : Journal of Ophthalmology. 2018, 2984934.

Research output: Contribution to journalArticle

2017

Additional features of Gillespie syndrome in two Brazilian siblings with a novel ITPR1 homozygous pathogenic variant

Carvalho, D. R., Medeiros, J. E. G., Ribeiro, D. S. M., Martins, B. J. A. F. & Sobreira, N., Jan 1 2017, (Accepted/In press) In : European Journal of Medical Genetics.

Research output: Contribution to journalArticle

A defect in myoblast fusion underlies Carey-Fineman-Ziter syndrome

Moebius Syndrome Research Consortium, Jul 6 2017, In : Nature Communications. 8, 16077.

Research output: Contribution to journalArticle

A novel mutation in GMPPA in siblings with apparent intellectual disability, epilepsy, dysmorphism, and autonomic dysfunction

Gold, W. A., Sobreira, N., Wiame, E., Marbaix, A., Van Schaftingen, E., Franzka, P., Riley, L. G., Worgan, L., Hübner, C. A., Christodoulou, J. & Adès, L. C., Aug 1 2017, In : American Journal of Medical Genetics, Part A. 173, 8, p. 2246-2250 5 p.

Research output: Contribution to journalArticle

Clinical report: A patient with a late diagnosis of cerebrotendinous xanthomatosis and a response to treatment

Alhariri, A., Hamilton, K., Oza, V., Cordoro, K., Sobreira, N., Malloy, M. & Slavotinek, A., Aug 1 2017, In : American Journal of Medical Genetics, Part A. 173, 8, p. 2275-2279 5 p.

Research output: Contribution to journalArticle

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

Matchmaker Exchange

Matchmaker Exchange Consortium, Oct 18 2017, In : Current Protocols in Human Genetics. 95, p. 9.31.1-9.31.15

Research output: Contribution to journalArticle

Multilevel analyses of SCN5A mutations in arrhythmogenic right ventricular dysplasia/cardiomyopathy suggest non-canonical mechanisms for disease pathogenesis

Te Riele, A. S. J. M., Agullo-Pascual, E., James, C. A., Leo-Macias, A., Cerrone, M., Zhang, M., Lin, X., Lin, B., Rothenberg, E., Sobreira, N., Amat-Alarcon, N., Marsman, R. F., Murray, B., Tichnell, C., Van Der Heijden, J. F., Dooijes, D., Van Veen, T. A. B., Tandri, H., Fowler, S. J., Hauer, R. N. W. & 13 others, Tomaselli, G., Van Den Berg, M. P., Taylor, M. R. G., Brun, F., Sinagra, G., Wilde, A. A. M., Mestroni, L., Bezzina, C. R., Calkins, H., Van Tintelen, J. P., Bu, L., Delmar, M. & Judge, D. P., Jan 1 2017, In : Cardiovascular Research. 113, 1, p. 102-111 10 p.

Research output: Contribution to journalArticle

Mutations in Fibronectin Cause a Subtype of Spondylometaphyseal Dysplasia with “Corner Fractures”

Baylor-Hopkins Center for Mendelian Genomics, Nov 2 2017, In : American Journal of Human Genetics. 101, 5, p. 815-823 9 p.

Research output: Contribution to journalArticle

Mutations in RARS cause a hypomyelination disorder akin to Pelizaeus-Merzbacher disease

Nafisinia, M., Sobreira, N., Riley, L., Gold, W., Uhlenberg, B., Weiß, C., Boehm, C., Prelog, K., Ouvrier, R. & Christodoulou, J., Oct 1 2017, In : European journal of human genetics : EJHG. 25, 10, p. 1134-1141 8 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

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 standardized, evidence-based protocol to assess clinical actionability of genetic disorders associated with genomic variation

Hunter, J. E., Irving, S. A., Biesecker, L. G., Buchanan, A., Jensen, B., Lee, K., Martin, C. L., Milko, L., Muessig, K., Niehaus, A. D., O'Daniel, J., Piper, M. A., Ramos, E. M., Schully, S. D., Scott, A. F., Slavotinek, A., Sobreira, N., Strande, N., Weaver, M., Webber, E. M. & 4 others, Williams, M. S., Berg, J. S., Evans, J. P. & Goddard, K. A. B., Dec 1 2016, In : Genetics in Medicine. 18, 12, p. 1258-1268 11 p.

Research output: Contribution to journalArticle

Exome sequencing identifies a de novo frameshift mutation in the imprinted gene ZDBF2 in a sporadic patient with Nasopalpebral Lipoma-coloboma syndrome

Chacón-Camacho, O. F., Sobreira, N., You, J., Piña-Aguilar, R. E., Villegas-Ruiz, V. & Zenteno, J. C., Jul 1 2016, In : American Journal of Medical Genetics, Part A. 170, 7, p. 1934-1937 4 p.

Research output: Contribution to journalLetter

Family Based Whole Exome Sequencing Reveals the Multifaceted Role of Notch Signaling in Congenital Heart Disease

MIBAVA Leducq consortium, Oct 1 2016, In : PLoS Genetics. 12, 10, e1006335.

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

SLC13A5 is the second gene associated with Kohlschütter-Tönz syndrome

Schossig, A., Bloch-Zupan, A., Lussi, A., Wolf, N. I., Raskin, S., Cohen, M., Giuliano, F., Jurgens, J., Krabichler, B., Koolen, D. A., Sobreira, N., Maurer, E., Muller-Bolla, M., Penzien, J., Zschocke, J. & Kapferer-Seebacher, I., Sep 6 2016, (Accepted/In press) In : Journal of Medical Genetics.

Research output: Contribution to journalArticle

Two novel germline DDX41 mutations in a family with inherited myelodysplasia/acute myeloid leukemia

Li, R., Sobreira, N., Witmer, P. D., Pratz, K. & Braunstein, E., May 31 2016, In : Haematologica. 101, 6, p. e228-e231

Research output: Contribution to journalLetter

Visceral myopathy: Clinical and molecular survey of a cohort of seven new patients and state of the art of overlapping phenotypes

Moreno, C. A., Metze, K., Lomazi, E. A., Bertola, D. R., Barbosa, R. H. A., Cosentino, V., Sobreira, N. & Cavalcanti, D. P., Nov 1 2016, In : American Journal of Medical Genetics, Part A. 170, 11, p. 2965-2974 10 p.

Research output: Contribution to journalArticle

Whole-exome sequencing identifies novel variants in PNPT1 causing oxidative phosphorylation defects and severe multisystem disease

Alodaib, A., Sobreira, N., Gold, W. A., Riley, L. G., Van Bergen, N. J., Wilson, M. J., Bennetts, B., Thorburn, D. R., Boehm, C. & Christodoulou, J., Jan 1 2016, In : European Journal of Human Genetics. 25, 1, p. 79-84 6 p.

Research output: Contribution to journalArticle

2015

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

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

Identification and functional characterization of natural human melanocortin 1 receptor mutant alleles in Pakistani population

University of Washington Center for Mendelian Genomics, Nov 1 2015, In : Pigment Cell and Melanoma Research. 28, 6, p. 730-735 6 p.

Research output: Contribution to journalArticle

Mutations in SPATA5 Are Associated with Microcephaly, Intellectual Disability, Seizures, and Hearing Loss

Tanaka, A. J., Cho, M. T., Millan, F., Juusola, J., Retterer, K., Joshi, C., Niyazov, D., Garnica, A., Gratz, E., Deardorff, M., Wilkins, A., Ortiz-Gonzalez, X., Mathews, K., Panzer, K., Brilstra, E., Van Gassen, K. L. I., Volker-Touw, C. M. L., Van Binsbergen, E., Sobreira, N., Hamosh, A. & 3 others, McKnight, D., Monaghan, K. G. & Chung, W. K., Sep 3 2015, In : American Journal of Human Genetics. 97, 3, p. 457-464 8 p., 1926.

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

Novel COL2A1 Variant (c.619G>A, p.Gly207Arg) Manifesting as a Phenotype Similar to Progressive Pseudorheumatoid Dysplasia and Spondyloepiphyseal Dysplasia, Stanescu Type

Jurgens, J., Sobreira, N., Modaff, P., Reiser, C. A., Seo, S. H., Seong, M. W., Park, S. S., Kim, O. H., Cho, T. J. & Pauli, R. M., Oct 1 2015, In : Human Mutation. 36, 10, p. 1004-1008 5 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

The Matchmaker Exchange: A Platform for Rare Disease Gene Discovery

Philippakis, A. A., Azzariti, D. R., Beltran, S., Brookes, A. J., Brownstein, C. A., Brudno, M., Brunner, H. G., Buske, O. J., Carey, K., Doll, C., Dumitriu, S., Dyke, S. O. M., den Dunnen, J. T., Firth, H. V., Gibbs, R. A., Girdea, M., Gonzalez, M., Haendel, M. A., Hamosh, A., Holm, I. A. & 18 others, Huang, L., Hurles, M. E., Hutton, B., Krier, J. B., Misyura, A., Mungall, C. J., Paschall, J., Paten, B., Robinson, P. N., Schiettecatte, F., Sobreira, N., Swaminathan, G. J., Taschner, P. E., Terry, S. F., Washington, N. L., Züchner, S., Boycott, K. M. & Rehm, H. L., Oct 1 2015, In : Human Mutation. 36, 10, p. 915-921 7 p.

Research output: Contribution to journalArticle

The Matchmaker Exchange API: Automating Patient Matching Through the Exchange of Structured Phenotypic and Genotypic Profiles

Buske, O. J., Schiettecatte, F., Hutton, B., Dumitriu, S., Misyura, A., Huang, L., Hartley, T., Girdea, M., Sobreira, N., Mungall, C. & Brudno, M., Oct 1 2015, In : Human Mutation. 36, 10, p. 922-927 6 p.

Research output: Contribution to journalArticle

Truncating mutations in the last exon of NOTCH3 cause lateral meningocele syndrome

Gripp, K. W., Robbins, K. M., Sobreira, N., Witmer, P. D., Bird, L. M., Avela, K., Makitie, O., Alves, D., Hogue, J. S., Zackai, E. H., Doheny, K., Stabley, D. L. & Sol-Church, K., Feb 1 2015, In : American Journal of Medical Genetics, Part A. 167, 2, p. 271-281 11 p.

Research output: Contribution to journalArticle