Nara Sobreira

Assistant Professor

20062019
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Research Output 2006 2019

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Article
2019

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

Hearing Loss
Exome
Genetic Heterogeneity
Phenotype
Genes

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

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

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
Ceramides
Zebrafish
Myelin Sheath
Exome
Leukoencephalopathies

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
Morphogenesis
Exome
Tooth
X Chromosome
New Zealand

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

Nuclear Pore
Fibroblasts
Nuclear Pore Complex Proteins
Microcephaly
Myoclonus

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
Phenotype
Genes
Lamin Type B
Exome
Inheritance Patterns

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

Exome
Seizures
Pluripotent Stem Cells
Movement Disorders
Nervous System Diseases

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

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

Myosin Light Chains
Parents
Genes
Exome
Myosin-Light-Chain Kinase

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

Plectin
Arrhythmogenic Right Ventricular Dysplasia
cardiomyopathy
Plakins
Genes

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

Exome
Electroretinography
Scotoma
Genetic Heterogeneity
Retinal Pigment Epithelium
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

Siblings
Iris
Cerebellar Ataxia
Muscle Hypotonia
Pulmonary Valve Stenosis

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

Myotonia Congenita
Genetic Databases
Cell Fusion
Myoblasts
Zebrafish

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

Intellectual Disability
Siblings
Epilepsy
Mutation
Proteins

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

Cerebrotendinous Xanthomatosis
Xanthomatosis
Delayed Diagnosis
Cholestanol
Chenodeoxycholic Acid

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

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

Rare Diseases
Insurance Pools
Communication
Databases
Mosaicism

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

Arrhythmogenic Right Ventricular Dysplasia
Multilevel Analysis
Mutation
Cadherins
Clustered Regularly Interspaced Short Palindromic Repeats

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

Fibronectins
Mutation
Scoliosis
Mutant Proteins
Coxa Vara

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

Pelizaeus-Merzbacher Disease
Mutation
Fibroblasts
Arginine
Arginine-tRNA Ligase

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
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

Inborn Genetic Diseases
Genome
Genes
Exome
Precision Medicine

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

Exome
cardiovascular disease
heart diseases
Heart Diseases
mutation

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

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

Tooth
Brain Diseases
Genes
Amelogenesis Imperfecta
Mutation

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

Intestinal Pseudo-Obstruction
Phenotype
Siblings
Parents
Exome

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

Exome
Oxidative Phosphorylation
Polyribonucleotide Nucleotidyltransferase
Fibroblasts
Proteins
2015
Developmental Bone Disease
Mutation
Genes
Exome
Natural History

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

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

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

Receptor, Melanocortin, Type 1
Alleles
Cell membranes
Population
Skin

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

Microcephaly
Spermatogenesis
Hearing Loss
Intellectual Disability
Seizures

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

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

Osteochondrodysplasias
Phenotype
Exome
Arthritis
Mutation

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

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

Genetic Association Studies
Rare Diseases
Databases
Research Personnel
Phenotype

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

Rare Diseases
Databases
Workflow
Registries
Genotype

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

Hajdu-Cheney Syndrome
Exons
Meningocele
Mutation
Micrognathism

γ-secretase mutation in an African American family with hidradenitis suppurativa

Chen, S., Mattei, P., You, J., Sobreira, N. & Hinds, G. A., Jun 1 2015, In : JAMA Dermatology. 151, 6, p. 668-670 3 p.

Research output: Contribution to journalArticle

Hidradenitis Suppurativa
Exome
Amyloid Precursor Protein Secretases
Membrane Glycoproteins
DNA Sequence Analysis
2014

Cytogenomic delineation and clinical follow-up of two siblings with an 8.5Mb 6q24.2-q25.2 deletion inherited from a paternal insertion

Meloni, V. A., Guilherme, R. S., Oliveira, M. M., Migliavacca, M., Takeno, S. S., Sobreira, N., de Fatima Faria Soares, M., de Mello, C. B. & Melaragno, M. I., 2014, In : American Journal of Medical Genetics, Part A. 164, 9, p. 2378-2384 7 p.

Research output: Contribution to journalArticle

Intellectual Disability
Siblings
Microcephaly
Fetal Growth Retardation
Microarray Analysis

DIAMUND: Direct comparison of genomes to detect mutations

Salzberg, S. L., Pertea, M., Fahrner, J. A. & Sobreira, N., 2014, In : Human Mutation. 35, 3, p. 283-288 6 p.

Research output: Contribution to journalArticle

Genome
Mutation
Inborn Genetic Diseases
Exome
Human Genome

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