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1. Pathogenic WDFY3 variants cause neurodevelopmental disorders and opposing effects on brain size (vol 142, pg 2617, 2019)

Author

Le Duc, Diana, Giulivi, Cecilia, Hiatt, Susan M, Napoli, Eleonora, Panoutsopoulos, Alexios, De Crescenzo, Angelo Harlan, Kotzaeridou, Urania, Syrbe, Steffen, Anagnostou, Evdokia, Azage, Meron, Bend, Renee, Begtrup, Amber, Brown, Natasha J, Buttner, Benjamin, Cho, Megan T, Cooper, Gregory M, Doering, Jan H, Dubourg, Christele, Everman, David B, Hildebrand, Michael S, Santos, Francis Jeshira Reynoso, Kellam, Barbara, Keller-Ramey, Jennifer, Lemke, Johannes R, Liu, Shuxi, Niyazov, Dmitriy, Payne, Katelyn, Person, Richard, Quelin, Chloe, Schnur, Rhonda E, Smith, Brooke T, Strober, Jonathan, Walker, Susan, Wallis, Mathew, Walsh, Laurence, Yang, Sandra, Yuen, Ryan KC, Ziegler, Andreas, Sticht, Heinrich, Pride, Michael C, Orosco, Lori, Martinez-Cerdeno, Veronica, Silverman, Jill L, Crawley, Jacqueline N, Scherer, Stephen W, Zarbalis, Konstantinos S, and Jamra, Rami

Subjects
Neurology & Neurosurgery, Medical and Health Sciences, Psychology and Cognitive Sciences
Published
2019

2. Pathogenic WDFY3 variants cause neurodevelopmental disorders and opposing effects on brain size

Author

Le Duc, Diana, Giulivi, Cecilia, Hiatt, Susan M, Napoli, Eleonora, Panoutsopoulos, Alexios, De Crescenzo, Angelo Harlan, Kotzaeridou, Urania, Syrbe, Steffen, Anagnostou, Evdokia, Azage, Meron, Bend, Renee, Begtrup, Amber, Brown, Natasha J, Büttner, Benjamin, Cho, Megan T, Cooper, Gregory M, Doering, Jan H, Dubourg, Christèle, Everman, David B, Hildebrand, Michael S, Santos, Francis Jeshira Reynoso, Kellam, Barbara, Keller-Ramey, Jennifer, Lemke, Johannes R, Liu, Shuxi, Niyazov, Dmitriy, Payne, Katelyn, Person, Richard, Quélin, Chloé, Schnur, Rhonda E, Smith, Brooke T, Strober, Jonathan, Walker, Susan, Wallis, Mathew, Walsh, Laurence, Yang, Sandra, Yuen, Ryan KC, Ziegler, Andreas, Sticht, Heinrich, Pride, Michael C, Orosco, Lori, Martínez-Cerdeño, Verónica, Silverman, Jill L, Crawley, Jacqueline N, Scherer, Stephen W, Zarbalis, Konstantinos S, and Jamra, Rami

Subjects
Biomedical and Clinical Sciences, Health Sciences, Psychology, Stem Cell Research, Neurosciences, Mental Health, Biotechnology, Brain Disorders, Genetics, Intellectual and Developmental Disabilities (IDD), Clinical Research, Pediatric, Aetiology, 2.1 Biological and endogenous factors, Neurological, Mental health, Adaptor Proteins, Signal Transducing, Adolescent, Animals, Autophagy-Related Proteins, Brain, Child, Child, Preschool, Female, Genetic Variation, Humans, Male, Mice, Mice, Transgenic, Neurodevelopmental Disorders, Organ Size, Protein Structure, Secondary, WDFY3, brain size, neurodevelopmental delay, intellectual disability, Medical and Health Sciences, Psychology and Cognitive Sciences, Neurology & Neurosurgery, Biomedical and clinical sciences, Health sciences
Abstract

The underpinnings of mild to moderate neurodevelopmental delay remain elusive, often leading to late diagnosis and interventions. Here, we present data on exome and genome sequencing as well as array analysis of 13 individuals that point to pathogenic, heterozygous, mostly de novo variants in WDFY3 (significant de novo enrichment P = 0.003) as a monogenic cause of mild and non-specific neurodevelopmental delay. Nine variants were protein-truncating and four missense. Overlapping symptoms included neurodevelopmental delay, intellectual disability, macrocephaly, and psychiatric disorders (autism spectrum disorders/attention deficit hyperactivity disorder). One proband presented with an opposing phenotype of microcephaly and the only missense-variant located in the PH-domain of WDFY3. Findings of this case are supported by previously published data, demonstrating that pathogenic PH-domain variants can lead to microcephaly via canonical Wnt-pathway upregulation. In a separate study, we reported that the autophagy scaffolding protein WDFY3 is required for cerebral cortical size regulation in mice, by controlling proper division of neural progenitors. Here, we show that proliferating cortical neural progenitors of human embryonic brains highly express WDFY3, further supporting a role for this molecule in the regulation of prenatal neurogenesis. We present data on Wnt-pathway dysregulation in Wdfy3-haploinsufficient mice, which display macrocephaly and deficits in motor coordination and associative learning, recapitulating the human phenotype. Consequently, we propose that in humans WDFY3 loss-of-function variants lead to macrocephaly via downregulation of the Wnt pathway. In summary, we present WDFY3 as a novel gene linked to mild to moderate neurodevelopmental delay and intellectual disability and conclude that variants putatively causing haploinsufficiency lead to macrocephaly, while an opposing pathomechanism due to variants in the PH-domain of WDFY3 leads to microcephaly.

Published
2019

3. RIT1 oncoproteins escape LZTR1-mediated proteolysis.

Author

Castel, Pau, Cheng, Alice, Cuevas-Navarro, Antonio, Everman, David B, Papageorge, Alex G, Simanshu, Dhirendra K, Tankka, Alexandra, Galeas, Jacqueline, Urisman, Anatoly, and McCormick, Frank

Subjects
Hela Cells, Animals, Humans, Mice, Mice, Mutant Strains, Noonan Syndrome, ras Proteins, Oncogene Proteins, Transcription Factors, Germ-Line Mutation, Mass Spectrometry, Gene Knock-In Techniques, HEK293 Cells, Proteolysis, HeLa Cells, Genetics, Cancer, 2.1 Biological and endogenous factors, Aetiology, General Science & Technology
Abstract

RIT1 oncoproteins have emerged as an etiologic factor in Noonan syndrome and cancer. Despite the resemblance of RIT1 to other members of the Ras small guanosine triphosphatases (GTPases), mutations affecting RIT1 are not found in the classic hotspots but rather in a region near the switch II domain of the protein. We used an isogenic germline knock-in mouse model to study the effects of RIT1 mutation at the organismal level, which resulted in a phenotype resembling Noonan syndrome. By mass spectrometry, we detected a RIT1 interactor, leucine zipper-like transcription regulator 1 (LZTR1), that acts as an adaptor for protein degradation. Pathogenic mutations affecting either RIT1 or LZTR1 resulted in incomplete degradation of RIT1. This led to RIT1 accumulation and dysregulated growth factor signaling responses. Our results highlight a mechanism of pathogenesis that relies on impaired protein degradation of the Ras GTPase RIT1.

Published
2019

4. Cornelia de Lange syndrome in diverse populations

Author

Dowsett, Leah, Porras, Antonio R, Kruszka, Paul, Davis, Brandon, Hu, Tommy, Honey, Engela, Badoe, Eben, Thong, Meow‐Keong, Leon, Eyby, Girisha, Katta M, Shukla, Anju, Nayak, Shalini S, Shotelersuk, Vorasuk, Megarbane, Andre, Phadke, Shubha, Sirisena, Nirmala D, Dissanayake, Vajira HW, Ferreira, Carlos R, Kisling, Monisha S, Tanpaiboon, Pranoot, Uwineza, Annette, Mutesa, Leon, Tekendo‐Ngongang, Cedrik, Wonkam, Ambroise, Fieggen, Karen, Batista, Leticia Cassimiro, Moretti‐Ferreira, Danilo, Stevenson, Roger E, Prijoles, Eloise J, Everman, David, Clarkson, Kate, Worthington, Jessica, Kimonis, Virginia, Hisama, Fuki, Crowe, Carol, Wong, Paul, Johnson, Kisha, Clark, Robin D, Bird, Lynne, Masser‐Frye, Diane, McDonald, Marie, Willems, Patrick, Roeder, Elizabeth, Saitta, Sulgana, Anyane‐Yeoba, Kwame, Demmer, Laurie, Hamajima, Naoki, Stark, Zornitza, Gillies, Greta, Hudgins, Louanne, Dave, Usha, Shalev, Stavit, Siu, Victoria, Gupta, Neerja, Kabra, Madhulika, Ades, Ann, Dubbs, Holly, Raible, Sarah, Kaur, Maninder, Salzano, Emanuela, Jackson, Laird, Deardorff, Matthew, Kline, Antonie, Summar, Marshall, Muenke, Maximilian, Linguraru, Marius George, and Krantz, Ian D

Subjects
Biological Sciences, Biomedical and Clinical Sciences, Genetics, Brain Disorders, Rare Diseases, Clinical Research, Intellectual and Developmental Disabilities (IDD), Pediatric, Neurosciences, Congenital, Abnormalities, Multiple, Adolescent, Adult, Cell Cycle Proteins, Child, Child, Preschool, Chondroitin Sulfate Proteoglycans, Chromosomal Proteins, Non-Histone, De Lange Syndrome, Face, Female, Humans, Image Processing, Computer-Assisted, Infant, Infant, Newborn, Intellectual Disability, Male, Mutation, Phenotype, Racial Groups, Young Adult, CdLS, Cornelia de Lange syndrome, diverse populations, facial analysis technology, NIPBL, underrepresented minorities, Clinical Sciences, Clinical sciences
Abstract

Cornelia de Lange syndrome (CdLS) is a dominant multisystemic malformation syndrome due to mutations in five genes-NIPBL, SMC1A, HDAC8, SMC3, and RAD21. The characteristic facial dysmorphisms include microcephaly, arched eyebrows, synophrys, short nose with depressed bridge and anteverted nares, long philtrum, thin lips, micrognathia, and hypertrichosis. Most affected individuals have intellectual disability, growth deficiency, and upper limb anomalies. This study looked at individuals from diverse populations with both clinical and molecularly confirmed diagnoses of CdLS by facial analysis technology. Clinical data and images from 246 individuals with CdLS were obtained from 15 countries. This cohort included 49% female patients and ages ranged from infancy to 37 years. Individuals were grouped into ancestry categories of African descent, Asian, Latin American, Middle Eastern, and Caucasian. Across these populations, 14 features showed a statistically significant difference. The most common facial features found in all ancestry groups included synophrys, short nose with anteverted nares, and a long philtrum with thin vermillion of the upper lip. Using facial analysis technology we compared 246 individuals with CdLS to 246 gender/age matched controls and found that sensitivity was equal or greater than 95% for all groups. Specificity was equal or greater than 91%. In conclusion, we present consistent clinical findings from global populations with CdLS while demonstrating how facial analysis technology can be a tool to support accurate diagnoses in the clinical setting. This work, along with prior studies in this arena, will assist in earlier detection, recognition, and treatment of CdLS worldwide.

Published
2019

5. DLG4-related synaptopathy: a new rare brain disorder

Author

Rodríguez-Palmero, Agustí, Boerrigter, Melissa Maria, Gómez-Andrés, David, Aldinger, Kimberly A., Marcos-Alcalde, Íñigo, Popp, Bernt, Everman, David B., Lovgren, Alysia Kern, Arpin, Stephanie, Bahrambeigi, Vahid, Beunders, Gea, Bisgaard, Anne-Marie, Bjerregaard, V. A., Bruel, Ange-Line, Challman, Thomas D., Cogné, Benjamin, Coubes, Christine, de Man, Stella A., Denommé-Pichon, Anne-Sophie, Dye, Thomas J., Elmslie, Frances, Feuk, Lars, García-Miñaúr, Sixto, Gertler, Tracy, Giorgio, Elisa, Gruchy, Nicolas, Haack, Tobias B., Haldeman-Englert, Chad R., Haukanes, Bjørn Ivar, Hoyer, Juliane, Hurst, Anna C. E., Isidor, Bertrand, Soller, Maria Johansson, Kushary, Sulagna, Kvarnung, Malin, Landau, Yuval E., Leppig, Kathleen A., Lindstrand, Anna, Kleinendorst, Lotte, MacKenzie, Alex, Mandrile, Giorgia, Mendelsohn, Bryce A., Moghadasi, Setareh, Morton, Jenny E., Moutton, Sebastien, Müller, Amelie J., O’Leary, Melanie, Pacio-Míguez, Marta, Palomares-Bralo, Maria, Parikh, Sumit, Pfundt, Rolph, Pode-Shakked, Ben, Rauch, Anita, Repnikova, Elena, Revah-Politi, Anya, Ross, Meredith J., Ruivenkamp, Claudia A. L., Sarrazin, Elisabeth, Savatt, Juliann M., Schlüter, Agatha, Schönewolf-Greulich, Bitten, Shad, Zohra, Shaw-Smith, Charles, Shieh, Joseph T., Shohat, Motti, Spranger, Stephanie, Thiese, Heidi, Mau-Them, Frederic Tran, van Bon, Bregje, van de Burgt, Ineke, van de Laar, Ingrid M. B. H., van Drie, Esmée, van Haelst, Mieke M., van Ravenswaaij-Arts, Conny M., Verdura, Edgard, Vitobello, Antonio, Waldmüller, Stephan, Whiting, Sharon, Zweier, Christiane, Prada, Carlos E., de Vries, Bert B. A., Dobyns, William B., Reiter, Simone F., Gómez-Puertas, Paulino, Pujol, Aurora, and Tümer, Zeynep

Published
2021
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6. Redefining the Etiologic Landscape of Cerebellar Malformations

Author

Aldinger, Kimberly A., Timms, Andrew E., Thomson, Zachary, Mirzaa, Ghayda M., Bennett, James T., Rosenberg, Alexander B., Roco, Charles M., Hirano, Matthew, Abidi, Fatima, Haldipur, Parthiv, Cheng, Chi V., Collins, Sarah, Park, Kaylee, Zeiger, Jordan, Overmann, Lynne M., Alkuraya, Fowzan S., Biesecker, Leslie G., Braddock, Stephen R., Cathey, Sara, Cho, Megan T., Chung, Brian H.Y., Everman, David B., Zarate, Yuri A., Jones, Julie R., Schwartz, Charles E., Goldstein, Amy, Hopkin, Robert J., Krantz, Ian D., Ladda, Roger L., Leppig, Kathleen A., McGillivray, Barbara C., Sell, Susan, Wusik, Katherine, Gleeson, Joseph G., Nickerson, Deborah A., Bamshad, Michael J., Gerrelli, Dianne, Lisgo, Steven N., Seelig, Georg, Ishak, Gisele E., Barkovich, A. James, Curry, Cynthia J., Glass, Ian A., Millen, Kathleen J., Doherty, Dan, and Dobyns, William B.

Published
2019
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7. Mutations in PIEZO2 Cause Gordon Syndrome, Marden-Walker Syndrome, and Distal Arthrogryposis Type 5

Author

McMillin, Margaret J, Beck, Anita E, Chong, Jessica X, Shively, Kathryn M, Buckingham, Kati J, Gildersleeve, Heidi IS, Aracena, Mariana I, Aylsworth, Arthur S, Bitoun, Pierre, Carey, John C, Clericuzio, Carol L, Crow, Yanick J, Curry, Cynthia J, Devriendt, Koenraad, Everman, David B, Fryer, Alan, Gibson, Kate, Uzielli, Maria Luisa Giovannucci, Graham, John M, Hall, Judith G, Hecht, Jacqueline T, Heidenreich, Randall A, Hurst, Jane A, Irani, Sarosh, Krapels, Ingrid PC, Leroy, Jules G, Mowat, David, Plant, Gordon T, Robertson, Stephen P, Schorry, Elizabeth K, Scott, Richard H, Seaver, Laurie H, Sherr, Elliott, Splitt, Miranda, Stewart, Helen, Stumpel, Constance, Temel, Sehime G, Weaver, David D, Whiteford, Margo, Williams, Marc S, Tabor, Holly K, Smith, Joshua D, Shendure, Jay, Nickerson, Deborah A, Genomics, University of Washington Center for Mendelian, and Bamshad, Michael J

Subjects
Rare Diseases, Human Genome, Genetics, Congenital Structural Anomalies, Pediatric, Dental/Oral and Craniofacial Disease, 2.1 Biological and endogenous factors, Aetiology, Congenital, Abnormalities, Multiple, Arachnodactyly, Arthrogryposis, Blepharophimosis, Child, Child, Preschool, Cleft Palate, Clubfoot, Connective Tissue Diseases, Contracture, Exome, Female, Hand Deformities, Congenital, Humans, Ion Channels, Male, Mutation, Ophthalmoplegia, Pedigree, Retinal Diseases, University of Washington Center for Mendelian Genomics, Biological Sciences, Medical and Health Sciences, Genetics & Heredity
Abstract

Gordon syndrome (GS), or distal arthrogryposis type 3, is a rare, autosomal-dominant disorder characterized by cleft palate and congenital contractures of the hands and feet. Exome sequencing of five GS-affected families identified mutations in piezo-type mechanosensitive ion channel component 2 (PIEZO2) in each family. Sanger sequencing revealed PIEZO2 mutations in five of seven additional families studied (for a total of 10/12 [83%] individuals), and nine families had an identical c.8057G>A (p.Arg2686His) mutation. The phenotype of GS overlaps with distal arthrogryposis type 5 (DA5) and Marden-Walker syndrome (MWS). Using molecular inversion probes for targeted sequencing to screen PIEZO2, we found mutations in 24/29 (82%) DA5-affected families and one of two MWS-affected families. The presence of cleft palate was significantly associated with c.8057G>A (Fisher's exact test, adjusted p value < 0.0001). Collectively, although GS, DA5, and MWS have traditionally been considered separate disorders, our findings indicate that they are etiologically related and perhaps represent variable expressivity of the same condition.

Published
2014

8. Functional characterization of tissue-specific enhancers in the DLX5/6 locus

Author

Birnbaum, Ramon Y, Everman, David B, Murphy, Karl K, Gurrieri, Fiorella, Schwartz, Charles E, and Ahituv, Nadav

Subjects
Biological Sciences, Genetics, Pediatric, Human Genome, Congenital Structural Anomalies, Biotechnology, Neurosciences, Congenital, Animals, Comparative Genomic Hybridization, Enhancer Elements, Genetic, Gene Expression Profiling, Gene Expression Regulation, Developmental, Gene Order, Genetic Loci, Homeodomain Proteins, Humans, Mice, Organ Specificity, Proteasome Endopeptidase Complex, Transcription Factors, Zebrafish, Medical and Health Sciences, Genetics & Heredity
Abstract

Disruption of distaless homeobox 5 and 6 (Dlx5/6) in mice results in brain, craniofacial, genital, ear and limb defects. In humans, chromosomal aberrations in the DLX5/6 region, some of which do not encompass DLX5/6, are associated with split hand/foot malformation 1 (SHFM1) as well as intellectual disability, craniofacial anomalies and hearing loss, suggesting that the disruption of DLX5/6 regulatory elements could lead to these abnormalities. Here, we characterized enhancers in the DLX5/6 locus whose tissue-specific expression and genomic location along with previously characterized enhancers correlate with phenotypes observed in individuals with chromosomal abnormalities. By analyzing chromosomal aberrations at 7q21, we refined the minimal SHFM1 critical region and used comparative genomics to select 26 evolutionary conserved non-coding sequences in this critical region for zebrafish enhancer assays. Eight of these sequences were shown to function as brain, olfactory bulb, branchial arch, otic vesicle and fin enhancers, recapitulating dlx5a/6a expression. Using a mouse enhancer assay, several of these zebrafish enhancers showed comparable expression patterns in the branchial arch, otic vesicle, forebrain and/or limb at embryonic day 11.5. Examination of the coordinates of various chromosomal rearrangements in conjunction with the genomic location of these tissue-specific enhancers showed a correlation with the observed clinical abnormalities. Our findings suggest that chromosomal abnormalities that disrupt the function of these tissue-specific enhancers could be the cause of SHFM1 and its associated phenotypes. In addition, they highlight specific enhancers in which mutations could lead to non-syndromic hearing loss, craniofacial defects or limb malformations.

Published
2012

10. The clinical and molecular spectrum of the KDM6B-related neurodevelopmental disorder

Author

Rots, Dmitrijs, primary, Jakub, Taryn E., additional, Keung, Crystal, additional, Jackson, Adam, additional, Banka, Siddharth, additional, Pfundt, Rolph, additional, de Vries, Bert B.A., additional, van Jaarsveld, Richard H., additional, Hopman, Saskia M.J., additional, van Binsbergen, Ellen, additional, Valenzuela, Irene, additional, Hempel, Maja, additional, Bierhals, Tatjana, additional, Kortüm, Fanny, additional, Lecoquierre, Francois, additional, Goldenberg, Alice, additional, Hertz, Jens Michael, additional, Andersen, Charlotte Brasch, additional, Kibæk, Maria, additional, Prijoles, Eloise J., additional, Stevenson, Roger E., additional, Everman, David B., additional, Patterson, Wesley G., additional, Meng, Linyan, additional, Gijavanekar, Charul, additional, De Dios, Karl, additional, Lakhani, Shenela, additional, Levy, Tess, additional, Wagner, Matias, additional, Wieczorek, Dagmar, additional, Benke, Paul J., additional, Lopez Garcia, María Soledad, additional, Perrier, Renee, additional, Sousa, Sergio B., additional, Almeida, Pedro M., additional, Simões, Maria José, additional, Isidor, Bertrand, additional, Deb, Wallid, additional, Schmanski, Andrew A., additional, Abdul-Rahman, Omar, additional, Philippe, Christophe, additional, Bruel, Ange-Line, additional, Faivre, Laurence, additional, Vitobello, Antonio, additional, Thauvin, Christel, additional, Smits, Jeroen J., additional, Garavelli, Livia, additional, Caraffi, Stefano G., additional, Peluso, Francesca, additional, Davis-Keppen, Laura, additional, Platt, Dylan, additional, Royer, Erin, additional, Leeuwen, Lisette, additional, Sinnema, Margje, additional, Stegmann, Alexander P.A., additional, Stumpel, Constance T.R.M., additional, Tiller, George E., additional, Bosch, Daniëlle G.M., additional, Potgieter, Stephanus T., additional, Joss, Shelagh, additional, Splitt, Miranda, additional, Holden, Simon, additional, Prapa, Matina, additional, Foulds, Nicola, additional, Douzgou, Sofia, additional, Puura, Kaija, additional, Waltes, Regina, additional, Chiocchetti, Andreas G., additional, Freitag, Christine M., additional, Satterstrom, F. Kyle, additional, De Rubeis, Silvia, additional, Buxbaum, Joseph, additional, Gelb, Bruce D., additional, Branko, Aleksic, additional, Kushima, Itaru, additional, Howe, Jennifer, additional, Scherer, Stephen W., additional, Arado, Alessia, additional, Baldo, Chiara, additional, Patat, Olivier, additional, Bénédicte, Demeer, additional, Lopergolo, Diego, additional, Santorelli, Filippo M., additional, Haack, Tobias B., additional, Dufke, Andreas, additional, Bertrand, Miriam, additional, Falb, Ruth J., additional, Rieß, Angelika, additional, Krieg, Peter, additional, Spranger, Stephanie, additional, Bedeschi, Maria Francesca, additional, Iascone, Maria, additional, Josephi-Taylor, Sarah, additional, Roscioli, Tony, additional, Buckley, Michael F., additional, Liebelt, Jan, additional, Dagli, Aditi I., additional, Aten, Emmelien, additional, Hurst, Anna C.E., additional, Hicks, Alesha, additional, Suri, Mohnish, additional, Aliu, Ermal, additional, Naik, Sunil, additional, Sidlow, Richard, additional, Coursimault, Juliette, additional, Nicolas, Gaël, additional, Küpper, Hanna, additional, Petit, Florence, additional, Ibrahim, Veyan, additional, Top, Deniz, additional, Di Cara, Francesca, additional, Louie, Raymond J., additional, Stolerman, Elliot, additional, Brunner, Han G., additional, Vissers, Lisenka E.L.M., additional, Kramer, Jamie M., additional, and Kleefstra, Tjitske, additional

Published
2023
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11. Enabling the clinical application of artificial intelligence in genomics: a perspective of the AMIA Genomics and Translational Bioinformatics Workgroup.

Author

Walton, Nephi A, Nagarajan, Radha, Wang, Chen, Sincan, Murat, Freimuth, Robert R, Everman, David B, Walton, Derek C, McGrath, Scott P, Lemas, Dominick J, Benos, Panayiotis V, Alekseyenko, Alexander V, Song, Qianqian, Uzun, Ece Gamsiz, Taylor, Casey Overby, Uzun, Alper, Person, Thomas Nate, Rappoport, Nadav, Zhao, Zhongming, and Williams, Marc S

Abstract

Objective Given the importance AI in genomics and its potential impact on human health, the American Medical Informatics Association—Genomics and Translational Biomedical Informatics (GenTBI) Workgroup developed this assessment of factors that can further enable the clinical application of AI in this space. Process A list of relevant factors was developed through GenTBI workgroup discussions in multiple in-person and online meetings, along with review of pertinent publications. This list was then summarized and reviewed to achieve consensus among the group members. Conclusions Substantial informatics research and development are needed to fully realize the clinical potential of such technologies. The development of larger datasets is crucial to emulating the success AI is achieving in other domains. It is important that AI methods do not exacerbate existing socio-economic, racial, and ethnic disparities. Genomic data standards are critical to effectively scale such technologies across institutions. With so much uncertainty, complexity and novelty in genomics and medicine, and with an evolving regulatory environment, the current focus should be on using these technologies in an interface with clinicians that emphasizes the value each brings to clinical decision-making. [ABSTRACT FROM AUTHOR]

Published
2024
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12. Autosomal recessive Noonan syndrome associated with biallelic LZTR1 variants

Author

Johnston, Jennifer J, van der Smagt, Jasper J, Rosenfeld, Jill A, Pagnamenta, Alistair T, Alswaid, Abdulrahman, Baker, Eva H, Blair, Edward, Borck, Guntram, Brinkmann, Julia, Craigen, William, Dung, Vu Chi, Emrick, Lisa, Everman, David B, van Gassen, Koen L, Gulsuner, Suleyman, Harr, Margaret H, Jain, Mahim, Kuechler, Alma, Leppig, Kathleen A, McDonald-McGinn, Donna M, Can, Ngoc Thi Bich, Peleg, Amir, Roeder, Elizabeth R, Rogers, R Curtis, Sagi-Dain, Lena, Sapp, Julie C, Schäffer, Alejandro A, Schanze, Denny, Stewart, Helen, Taylor, Jenny C, Verbeek, Nienke E, Walkiewicz, Magdalena A, Zackai, Elaine H, Zweier, Christiane, Zenker, Martin, Lee, Brendan, and Biesecker, Leslie G

Published
2018
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13. PRDM1 DNA-binding zinc finger domain is required for normal limb development and is disrupted in split hand/foot malformation

Author

Truong, Brittany T., primary, Shull, Lomeli C., additional, Lencer, Ezra, additional, Bend, Eric G., additional, Field, Michael, additional, Blue, Elizabeth E., additional, Bamshad, Michael J., additional, Skinner, Cindy, additional, Everman, David, additional, Schwartz, Charles E., additional, Flanagan-Steet, Heather, additional, and Artinger, Kristin B., additional

Published
2023
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14. Gene domain-specific DNA methylation episignatures highlight distinct molecular entities of ADNP syndrome

Author

Bend, Eric G., Aref-Eshghi, Erfan, Everman, David B., Rogers, R. Curtis, Cathey, Sara S., Prijoles, Eloise J., Lyons, Michael J., Davis, Heather, Clarkson, Katie, Gripp, Karen W., Li, Dong, Bhoj, Elizabeth, Zackai, Elaine, Mark, Paul, Hakonarson, Hakon, Demmer, Laurie A., Levy, Michael A., Kerkhof, Jennifer, Stuart, Alan, Rodenhiser, David, Friez, Michael J., Stevenson, Roger E., Schwartz, Charles E., and Sadikovic, Bekim

Published
2019
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15. P569: Identification of a novel, deep-intronic alteration in KDM6A: How a multi-omics approach ended a 10+ year diagnostic odyssey*

Author

Tedder, Matthew, primary, Coleman, Jessica Cooley, additional, Childers, Anna, additional, Kerkhof, Jennifer, additional, Louie, Raymond, additional, Lee, Jennifer, additional, Friez, Michael, additional, Sadikovic, Bekim, additional, Everman, David, additional, Rogers, Richard, additional, and Caylor, Raymond, additional

Published
2023
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16. DNA methylation episignature for Witteveen-Kolk syndrome due to SIN3A haploinsufficiency

Author

Coenen-van der Spek, Jet, primary, Relator, Raissa, additional, Kerkhof, Jennifer, additional, McConkey, Haley, additional, Levy, Michael A., additional, Tedder, Matthew L., additional, Louie, Raymond J., additional, Fletcher, Robin S., additional, Moore, Hannah W., additional, Childers, Anna, additional, Farrelly, Ellyn R., additional, Champaigne, Neena L., additional, Lyons, Michael J., additional, Everman, David B., additional, Rogers, R. Curtis, additional, Skinner, Steven A., additional, Renck, Alicia, additional, Matalon, Dena R., additional, Dills, Shelley K., additional, Monteleone, Berrin, additional, Demirdas, Serwet, additional, Dingemans, Alexander J.M., additional, Donker Kaat, Laura, additional, Kolk, Sharon M., additional, Pfundt, Rolph, additional, Rump, Patrick, additional, Sadikovic, Bekim, additional, Kleefstra, Tjitske, additional, and Butler, Kameryn M., additional

Published
2023
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17. Clinical and functional characterization of germline PIK3CA variants in patients with PIK3CA-related overgrowth spectrum disorders

Author

Cooley Coleman, Jessica A, primary, Gass, Jennifer M, additional, Srikanth, Sujata, additional, Pauly, Rini, additional, Ziats, Catherine A, additional, Everman, David B, additional, Skinner, Steven A, additional, Bell, Shannon, additional, Louie, Raymond J, additional, Cascio, Lauren, additional, Patterson, Wesley G, additional, Jones, Julie R, additional, Di Donato, Nataliya, additional, Stevenson, Roger E, additional, and Boccuto, Luigi, additional

Published
2022
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18. PI4KA-Related Disorder

Author

Wolf, NI, Baple, Emma L, Salter, Claire, Uhlig, Holm H., Crosby, Andrew H, Adam, Margaret, Everman, David B., Mirzaa, Ghayda M., Wallace, Stephanie, and Gripp, Karen W.

Published
2022

19. Mosaicism of common pathogenic MECP2 variants identified in two males with a clinical diagnosis of Rett syndrome

Author

Cooley Coleman, Jessica A., primary, Fee, Timothy, additional, Bend, Renee, additional, Louie, Raymond, additional, Annese, Fran, additional, Stallworth, Jennifer, additional, Worthington, Jessica, additional, Buchanan, Caroline Black, additional, Everman, David B., additional, Skinner, Steven, additional, Friez, Michael J., additional, Jones, Julie R., additional, and Spellicy, Catherine J., additional

Published
2022
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22. SEMA6B variants cause intellectual disability and alter dendritic spine density and axon guidance

Author

Cordovado, Amélie, primary, Schaettin, Martina, additional, Jeanne, Médéric, additional, Panasenkava, Veranika, additional, Denommé-Pichon, Anne-Sophie, additional, Keren, Boris, additional, Mignot, Cyril, additional, Doco-Fenzy, Martine, additional, Rodan, Lance, additional, Ramsey, Keri, additional, Narayanan, Vinodh, additional, Jones, Julie R, additional, Prijoles, Eloise J, additional, Mitchell, Wendy G, additional, Ozmore, Jillian R, additional, Juliette, Kali, additional, Torti, Erin, additional, Normand, Elizabeth A, additional, Granger, Leslie, additional, Petersen, Andrea K, additional, Au, Margaret G, additional, Matheny, Juliann P, additional, Phornphutkul, Chanika, additional, Chambers, Mary-Kathryn, additional, Fernández-Ramos, Joaquín-Alejandro, additional, López-Laso, Eduardo, additional, Kruer, Michael C, additional, Bakhtiari, Somayeh, additional, Zollino, Marcella, additional, Morleo, Manuela, additional, Marangi, Giuseppe, additional, Mei, Davide, additional, Pisano, Tiziana, additional, Guerrini, Renzo, additional, Louie, Raymond J, additional, Childers, Anna, additional, Everman, David B, additional, Isidor, Betrand, additional, Audebert-Bellanger, Séverine, additional, Odent, Sylvie, additional, Bonneau, Dominique, additional, Gilbert-Dussardier, Brigitte, additional, Redon, Richard, additional, Bézieau, Stéphane, additional, Laumonnier, Frédéric, additional, Stoeckli, Esther T, additional, Toutain, Annick, additional, and Vuillaume, Marie-Laure, additional

Published
2022
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28. DLG4-related synaptopathy:a new rare brain disorder

Author

Rodríguez-Palmero, Agustí, Boerrigter, Melissa Maria, Gómez-Andrés, David, Aldinger, Kimberly A., Marcos-Alcalde, Íñigo, Popp, Bernt, Everman, David B., Lovgren, Alysia Kern, Arpin, Stephanie, Bahrambeigi, Vahid, Beunders, Gea, Bisgaard, Anne Marie, Bjerregaard, V. A., Bruel, Ange Line, Challman, Thomas D., Cogné, Benjamin, Coubes, Christine, de Man, Stella A., Denommé-Pichon, Anne Sophie, Dye, Thomas J., Elmslie, Frances, Feuk, Lars, García-Miñaúr, Sixto, Gertler, Tracy, Giorgio, Elisa, Gruchy, Nicolas, Haack, Tobias B., Haldeman-Englert, Chad R., Haukanes, Bjørn Ivar, Hoyer, Juliane, Hurst, Anna C.E., Isidor, Bertrand, Soller, Maria Johansson, Kushary, Sulagna, Kvarnung, Malin, Landau, Yuval E., Leppig, Kathleen A., Lindstrand, Anna, Kleinendorst, Lotte, MacKenzie, Alex, Mandrile, Giorgia, Mendelsohn, Bryce A., Moghadasi, Setareh, Morton, Jenny E., Moutton, Sebastien, Müller, Amelie J., O’Leary, Melanie, Pacio-Míguez, Marta, Palomares-Bralo, Maria, Parikh, Sumit, Pfundt, Rolph, Pode-Shakked, Ben, Rauch, Anita, Repnikova, Elena, Revah-Politi, Anya, Ross, Meredith J., Ruivenkamp, Claudia A.L., Sarrazin, Elisabeth, Savatt, Juliann M., Schlüter, Agatha, Schönewolf-Greulich, Bitten, Shad, Zohra, Shaw-Smith, Charles, Shieh, Joseph T., Shohat, Motti, Spranger, Stephanie, Thiese, Heidi, Mau-Them, Frederic Tran, van Bon, Bregje, van de Burgt, Ineke, van de Laar, Ingrid M.B.H., van Drie, Esmée, van Haelst, Mieke M., van Ravenswaaij-Arts, Conny M., Verdura, Edgard, Vitobello, Antonio, Waldmüller, Stephan, Whiting, Sharon, Zweier, Christiane, Prada, Carlos E., de Vries, Bert B.A., Dobyns, William B., Reiter, Simone F., Gómez-Puertas, Paulino, Pujol, Aurora, Tümer, Zeynep, Rodríguez-Palmero, Agustí, Boerrigter, Melissa Maria, Gómez-Andrés, David, Aldinger, Kimberly A., Marcos-Alcalde, Íñigo, Popp, Bernt, Everman, David B., Lovgren, Alysia Kern, Arpin, Stephanie, Bahrambeigi, Vahid, Beunders, Gea, Bisgaard, Anne Marie, Bjerregaard, V. A., Bruel, Ange Line, Challman, Thomas D., Cogné, Benjamin, Coubes, Christine, de Man, Stella A., Denommé-Pichon, Anne Sophie, Dye, Thomas J., Elmslie, Frances, Feuk, Lars, García-Miñaúr, Sixto, Gertler, Tracy, Giorgio, Elisa, Gruchy, Nicolas, Haack, Tobias B., Haldeman-Englert, Chad R., Haukanes, Bjørn Ivar, Hoyer, Juliane, Hurst, Anna C.E., Isidor, Bertrand, Soller, Maria Johansson, Kushary, Sulagna, Kvarnung, Malin, Landau, Yuval E., Leppig, Kathleen A., Lindstrand, Anna, Kleinendorst, Lotte, MacKenzie, Alex, Mandrile, Giorgia, Mendelsohn, Bryce A., Moghadasi, Setareh, Morton, Jenny E., Moutton, Sebastien, Müller, Amelie J., O’Leary, Melanie, Pacio-Míguez, Marta, Palomares-Bralo, Maria, Parikh, Sumit, Pfundt, Rolph, Pode-Shakked, Ben, Rauch, Anita, Repnikova, Elena, Revah-Politi, Anya, Ross, Meredith J., Ruivenkamp, Claudia A.L., Sarrazin, Elisabeth, Savatt, Juliann M., Schlüter, Agatha, Schönewolf-Greulich, Bitten, Shad, Zohra, Shaw-Smith, Charles, Shieh, Joseph T., Shohat, Motti, Spranger, Stephanie, Thiese, Heidi, Mau-Them, Frederic Tran, van Bon, Bregje, van de Burgt, Ineke, van de Laar, Ingrid M.B.H., van Drie, Esmée, van Haelst, Mieke M., van Ravenswaaij-Arts, Conny M., Verdura, Edgard, Vitobello, Antonio, Waldmüller, Stephan, Whiting, Sharon, Zweier, Christiane, Prada, Carlos E., de Vries, Bert B.A., Dobyns, William B., Reiter, Simone F., Gómez-Puertas, Paulino, Pujol, Aurora, and Tümer, Zeynep

Abstract

Purpose: Postsynaptic density protein-95 (PSD-95), encoded by DLG4, regulates excitatory synaptic function in the brain. Here we present the clinical and genetic features of 53 patients (42 previously unpublished) with DLG4 variants. Methods: The clinical and genetic information were collected through GeneMatcher collaboration. All the individuals were investigated by local clinicians and the gene variants were identified by clinical exome/genome sequencing. Results: The clinical picture was predominated by early onset global developmental delay, intellectual disability, autism spectrum disorder, and attention deficit–hyperactivity disorder, all of which point to a brain disorder. Marfanoid habitus, which was previously suggested to be a characteristic feature of DLG4-related phenotypes, was found in only nine individuals and despite some overlapping features, a distinct facial dysmorphism could not be established. Of the 45 different DLG4 variants, 39 were predicted to lead to loss of protein function and the majority occurred de novo (four with unknown origin). The six missense variants identified were suggested to lead to structural or functional changes by protein modeling studies. Conclusion: The present study shows that clinical manifestations associated with DLG4 overlap with those found in other neurodevelopmental disorders of synaptic dysfunction; thus, we designate this group of disorders as DLG4-related synaptopathy. [Figure not available: see fulltext.]

Published
2021

29. Mutations in the Human UBR1 Gene and the Associated Phenotypic Spectrum

Author

Sukalo, Maja, Fiedler, Ariane, Guzmán, Celina, Spranger, Stephanie, Addor, Marie-Claude, Mcheik, Jiad N., Oltra Benavent, Manuel, Cobben, Jan M., Gillis, Lynette A., Shealy, Amy G., Deshpande, Charu, Bozorgmehr, Bita, Everman, David B., Stattin, Eva-Lena, Liebelt, Jan, Keller, Klaus-Michael, Romeo Bertola, Débora, van Karnebeek, Clara D.M., Bergmann, Carsten, Liu, Zhifeng, Düker, Gesche, Rezaei, Nima, Alkuraya, Fowzan S., Oğur, Gönül, Alrajoudi, Abdullah, Venegas-Vega, Carlos A., Verbeek, Nienke E., Richmond, Erick J., Kirbiyik, Özgür, Ranganath, Prajnya, Singh, Ankur, Godbole, Koumudi, Ali, Fouad A. M., Alves, Crésio, Mayerle, Julia, Lerch, Markus M., Witt, Heiko, and Zenker, Martin

Published
2014
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30. 1q21.1 deletion size and associated clinical presentations

Author

Wang, Jiyong, primary, Hamid, Rasikh, additional, Lyons, Michael, additional, Champaigne, Neena, additional, Eloise, Prijoles, additional, Everman, David, additional, Rogers, Curtis, additional, Stolerman, Elliot, additional, Clarkson, Katie, additional, Cathey, Sara, additional, Hilton, Benjamin, additional, and DuPont, Barbara, additional

Published
2021
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34. Clinical utility of the X-chromosome array

Author

Zarate, Yuri A., Dwivedi, Alka, Bartel, Frank O., Bellomo, Allison M., Cathey, Sara S., Champaigne, Neena L., Clarkson, Kate L., DuPont, Barbara R., Everman, David B., Geer, Joseph S., Gordon, Barbara C., Lichty, Angie W., Lyons, Michael J., Rogers, Curtis R., Saul, Robert A., Schroer, Richard J., Skinner, Steven A., and Stevenson, Roger E.

Published
2013
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35. Broad Thumbs and Great Toes

Author

Leung, Alexander K. C., primary, Schmitt, Marcus, additional, Thomas, Christie P., additional, Sunderkötter, Cord, additional, Schiller, Meinhard, additional, Schwarz, Thomas, additional, Berneburg, Mark, additional, Kohlschütter, Alfried, additional, Cerroni, Lorenzo, additional, Direskeneli, Haner, additional, Calamia, Kenneth, additional, David, Gloria L., additional, Zeldin, Darryl C., additional, Schütte, Bärbel, additional, Denson, Lee A., additional, Erhardt, Andreas, additional, Kubitz, Ralf, additional, Häussinger, Dieter, additional, Sealey, Wendy M., additional, Mock, Donald M., additional, Wolf, Barry, additional, Schumacher, Johannes, additional, Propping, Peter, additional, Metze, Dieter, additional, Leung, Alexander K. C., additional, Wong, Andrew L., additional, Hengstschläger, Markus, additional, High, Whitney A., additional, Shroyer, Kenneth R., additional, McCready, M. Elizabeth, additional, Bulman, Dennis E., additional, Afzal, Ali R., additional, Everman, David B., additional, Stoll, Claude, additional, Darcan, Sukran, additional, Kou, Yu Ru, additional, Lin, You Shuei, additional, Suzuki, Yoichi, additional, Tada, Keiya, additional, Kupka, Susan, additional, Dietmaier, Wolfgang, additional, Hartmann, Arndt, additional, Hennekam, Raoul C. M., additional, Belperio, John A., additional, Keane, Michael P., additional, Smith, M. Iain, additional, Strieter, Robert M., additional, Molfino, Nestor A., additional, Sciandra, Francesca, additional, Rossenbacker, Tom, additional, Priori, Silvia G., additional, Senzolo, Marco, additional, Triantos, Christos, additional, Samonakis, Dimitrios, additional, Cholongitas, Evangelos, additional, Burroughs, Andrew K., additional, Mura, Marco, additional, Braun-Falco, Markus, additional, Hofmann, Silke, additional, and Bruckner-Tuderman, Leena, additional

Published
2009
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36. Bowenoid Papulosis

Author

Leung, Alexander K. C., primary, Schmitt, Marcus, additional, Thomas, Christie P., additional, Sunderkötter, Cord, additional, Schiller, Meinhard, additional, Schwarz, Thomas, additional, Berneburg, Mark, additional, Kohlschütter, Alfried, additional, Cerroni, Lorenzo, additional, Direskeneli, Haner, additional, Calamia, Kenneth, additional, David, Gloria L., additional, Zeldin, Darryl C., additional, Schütte, Bärbel, additional, Denson, Lee A., additional, Erhardt, Andreas, additional, Kubitz, Ralf, additional, Häussinger, Dieter, additional, Sealey, Wendy M., additional, Mock, Donald M., additional, Wolf, Barry, additional, Schumacher, Johannes, additional, Propping, Peter, additional, Metze, Dieter, additional, Leung, Alexander K. C., additional, Wong, Andrew L., additional, Hengstschläger, Markus, additional, High, Whitney A., additional, Shroyer, Kenneth R., additional, McCready, M. Elizabeth, additional, Bulman, Dennis E., additional, Afzal, Ali R., additional, Everman, David B., additional, Stoll, Claude, additional, Darcan, Sukran, additional, Kou, Yu Ru, additional, Lin, You Shuei, additional, Suzuki, Yoichi, additional, Tada, Keiya, additional, Kupka, Susan, additional, Dietmaier, Wolfgang, additional, Hartmann, Arndt, additional, Hennekam, Raoul C. M., additional, Belperio, John A., additional, Keane, Michael P., additional, Smith, M. Iain, additional, Strieter, Robert M., additional, Molfino, Nestor A., additional, Sciandra, Francesca, additional, Rossenbacker, Tom, additional, Priori, Silvia G., additional, Senzolo, Marco, additional, Triantos, Christos, additional, Samonakis, Dimitrios, additional, Cholongitas, Evangelos, additional, Burroughs, Andrew K., additional, Mura, Marco, additional, Braun-Falco, Markus, additional, Hofmann, Silke, additional, and Bruckner-Tuderman, Leena, additional

Published
2009
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37. BPAD

Author

Leung, Alexander K. C., primary, Schmitt, Marcus, additional, Thomas, Christie P., additional, Sunderkötter, Cord, additional, Schiller, Meinhard, additional, Schwarz, Thomas, additional, Berneburg, Mark, additional, Kohlschütter, Alfried, additional, Cerroni, Lorenzo, additional, Direskeneli, Haner, additional, Calamia, Kenneth, additional, David, Gloria L., additional, Zeldin, Darryl C., additional, Schütte, Bärbel, additional, Denson, Lee A., additional, Erhardt, Andreas, additional, Kubitz, Ralf, additional, Häussinger, Dieter, additional, Sealey, Wendy M., additional, Mock, Donald M., additional, Wolf, Barry, additional, Schumacher, Johannes, additional, Propping, Peter, additional, Metze, Dieter, additional, Leung, Alexander K. C., additional, Wong, Andrew L., additional, Hengstschläger, Markus, additional, High, Whitney A., additional, Shroyer, Kenneth R., additional, McCready, M. Elizabeth, additional, Bulman, Dennis E., additional, Afzal, Ali R., additional, Everman, David B., additional, Stoll, Claude, additional, Darcan, Sukran, additional, Kou, Yu Ru, additional, Lin, You Shuei, additional, Suzuki, Yoichi, additional, Tada, Keiya, additional, Kupka, Susan, additional, Dietmaier, Wolfgang, additional, Hartmann, Arndt, additional, Hennekam, Raoul C. M., additional, Belperio, John A., additional, Keane, Michael P., additional, Smith, M. Iain, additional, Strieter, Robert M., additional, Molfino, Nestor A., additional, Sciandra, Francesca, additional, Rossenbacker, Tom, additional, Priori, Silvia G., additional, Senzolo, Marco, additional, Triantos, Christos, additional, Samonakis, Dimitrios, additional, Cholongitas, Evangelos, additional, Burroughs, Andrew K., additional, Mura, Marco, additional, Braun-Falco, Markus, additional, Hofmann, Silke, additional, and Bruckner-Tuderman, Leena, additional

Published
2009
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38. Budd-Chiari Syndrome

Author

Leung, Alexander K. C., primary, Schmitt, Marcus, additional, Thomas, Christie P., additional, Sunderkötter, Cord, additional, Schiller, Meinhard, additional, Schwarz, Thomas, additional, Berneburg, Mark, additional, Kohlschütter, Alfried, additional, Cerroni, Lorenzo, additional, Direskeneli, Haner, additional, Calamia, Kenneth, additional, David, Gloria L., additional, Zeldin, Darryl C., additional, Schütte, Bärbel, additional, Denson, Lee A., additional, Erhardt, Andreas, additional, Kubitz, Ralf, additional, Häussinger, Dieter, additional, Sealey, Wendy M., additional, Mock, Donald M., additional, Wolf, Barry, additional, Schumacher, Johannes, additional, Propping, Peter, additional, Metze, Dieter, additional, Leung, Alexander K. C., additional, Wong, Andrew L., additional, Hengstschläger, Markus, additional, High, Whitney A., additional, Shroyer, Kenneth R., additional, McCready, M. Elizabeth, additional, Bulman, Dennis E., additional, Afzal, Ali R., additional, Everman, David B., additional, Stoll, Claude, additional, Darcan, Sukran, additional, Kou, Yu Ru, additional, Lin, You Shuei, additional, Suzuki, Yoichi, additional, Tada, Keiya, additional, Kupka, Susan, additional, Dietmaier, Wolfgang, additional, Hartmann, Arndt, additional, Hennekam, Raoul C. M., additional, Belperio, John A., additional, Keane, Michael P., additional, Smith, M. Iain, additional, Strieter, Robert M., additional, Molfino, Nestor A., additional, Sciandra, Francesca, additional, Rossenbacker, Tom, additional, Priori, Silvia G., additional, Senzolo, Marco, additional, Triantos, Christos, additional, Samonakis, Dimitrios, additional, Cholongitas, Evangelos, additional, Burroughs, Andrew K., additional, Mura, Marco, additional, Braun-Falco, Markus, additional, Hofmann, Silke, additional, and Bruckner-Tuderman, Leena, additional

Published
2009
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39. Batten Disease

Author

Leung, Alexander K. C., primary, Schmitt, Marcus, additional, Thomas, Christie P., additional, Sunderkötter, Cord, additional, Schiller, Meinhard, additional, Schwarz, Thomas, additional, Berneburg, Mark, additional, Kohlschütter, Alfried, additional, Cerroni, Lorenzo, additional, Direskeneli, Haner, additional, Calamia, Kenneth, additional, David, Gloria L., additional, Zeldin, Darryl C., additional, Schütte, Bärbel, additional, Denson, Lee A., additional, Erhardt, Andreas, additional, Kubitz, Ralf, additional, Häussinger, Dieter, additional, Sealey, Wendy M., additional, Mock, Donald M., additional, Wolf, Barry, additional, Schumacher, Johannes, additional, Propping, Peter, additional, Metze, Dieter, additional, Leung, Alexander K. C., additional, Wong, Andrew L., additional, Hengstschläger, Markus, additional, High, Whitney A., additional, Shroyer, Kenneth R., additional, McCready, M. Elizabeth, additional, Bulman, Dennis E., additional, Afzal, Ali R., additional, Everman, David B., additional, Stoll, Claude, additional, Darcan, Sukran, additional, Kou, Yu Ru, additional, Lin, You Shuei, additional, Suzuki, Yoichi, additional, Tada, Keiya, additional, Kupka, Susan, additional, Dietmaier, Wolfgang, additional, Hartmann, Arndt, additional, Hennekam, Raoul C. M., additional, Belperio, John A., additional, Keane, Michael P., additional, Smith, M. Iain, additional, Strieter, Robert M., additional, Molfino, Nestor A., additional, Sciandra, Francesca, additional, Rossenbacker, Tom, additional, Priori, Silvia G., additional, Senzolo, Marco, additional, Triantos, Christos, additional, Samonakis, Dimitrios, additional, Cholongitas, Evangelos, additional, Burroughs, Andrew K., additional, Mura, Marco, additional, Braun-Falco, Markus, additional, Hofmann, Silke, additional, and Bruckner-Tuderman, Leena, additional

Published
2009
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40. Brachydactyly-Clinodactyly

Author

Leung, Alexander K. C., primary, Schmitt, Marcus, additional, Thomas, Christie P., additional, Sunderkötter, Cord, additional, Schiller, Meinhard, additional, Schwarz, Thomas, additional, Berneburg, Mark, additional, Kohlschütter, Alfried, additional, Cerroni, Lorenzo, additional, Direskeneli, Haner, additional, Calamia, Kenneth, additional, David, Gloria L., additional, Zeldin, Darryl C., additional, Schütte, Bärbel, additional, Denson, Lee A., additional, Erhardt, Andreas, additional, Kubitz, Ralf, additional, Häussinger, Dieter, additional, Sealey, Wendy M., additional, Mock, Donald M., additional, Wolf, Barry, additional, Schumacher, Johannes, additional, Propping, Peter, additional, Metze, Dieter, additional, Leung, Alexander K. C., additional, Wong, Andrew L., additional, Hengstschläger, Markus, additional, High, Whitney A., additional, Shroyer, Kenneth R., additional, McCready, M. Elizabeth, additional, Bulman, Dennis E., additional, Afzal, Ali R., additional, Everman, David B., additional, Stoll, Claude, additional, Darcan, Sukran, additional, Kou, Yu Ru, additional, Lin, You Shuei, additional, Suzuki, Yoichi, additional, Tada, Keiya, additional, Kupka, Susan, additional, Dietmaier, Wolfgang, additional, Hartmann, Arndt, additional, Hennekam, Raoul C. M., additional, Belperio, John A., additional, Keane, Michael P., additional, Smith, M. Iain, additional, Strieter, Robert M., additional, Molfino, Nestor A., additional, Sciandra, Francesca, additional, Rossenbacker, Tom, additional, Priori, Silvia G., additional, Senzolo, Marco, additional, Triantos, Christos, additional, Samonakis, Dimitrios, additional, Cholongitas, Evangelos, additional, Burroughs, Andrew K., additional, Mura, Marco, additional, Braun-Falco, Markus, additional, Hofmann, Silke, additional, and Bruckner-Tuderman, Leena, additional

Published
2009
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41. Brachydactyly Type B

Author

Leung, Alexander K. C., primary, Schmitt, Marcus, additional, Thomas, Christie P., additional, Sunderkötter, Cord, additional, Schiller, Meinhard, additional, Schwarz, Thomas, additional, Berneburg, Mark, additional, Kohlschütter, Alfried, additional, Cerroni, Lorenzo, additional, Direskeneli, Haner, additional, Calamia, Kenneth, additional, David, Gloria L., additional, Zeldin, Darryl C., additional, Schütte, Bärbel, additional, Denson, Lee A., additional, Erhardt, Andreas, additional, Kubitz, Ralf, additional, Häussinger, Dieter, additional, Sealey, Wendy M., additional, Mock, Donald M., additional, Wolf, Barry, additional, Schumacher, Johannes, additional, Propping, Peter, additional, Metze, Dieter, additional, Leung, Alexander K. C., additional, Wong, Andrew L., additional, Hengstschläger, Markus, additional, High, Whitney A., additional, Shroyer, Kenneth R., additional, McCready, M. Elizabeth, additional, Bulman, Dennis E., additional, Afzal, Ali R., additional, Everman, David B., additional, Stoll, Claude, additional, Darcan, Sukran, additional, Kou, Yu Ru, additional, Lin, You Shuei, additional, Suzuki, Yoichi, additional, Tada, Keiya, additional, Kupka, Susan, additional, Dietmaier, Wolfgang, additional, Hartmann, Arndt, additional, Hennekam, Raoul C. M., additional, Belperio, John A., additional, Keane, Michael P., additional, Smith, M. Iain, additional, Strieter, Robert M., additional, Molfino, Nestor A., additional, Sciandra, Francesca, additional, Rossenbacker, Tom, additional, Priori, Silvia G., additional, Senzolo, Marco, additional, Triantos, Christos, additional, Samonakis, Dimitrios, additional, Cholongitas, Evangelos, additional, Burroughs, Andrew K., additional, Mura, Marco, additional, Braun-Falco, Markus, additional, Hofmann, Silke, additional, and Bruckner-Tuderman, Leena, additional

Published
2009
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42. Barrett Esophagus

Author

Leung, Alexander K. C., primary, Schmitt, Marcus, additional, Thomas, Christie P., additional, Sunderkötter, Cord, additional, Schiller, Meinhard, additional, Schwarz, Thomas, additional, Berneburg, Mark, additional, Kohlschütter, Alfried, additional, Cerroni, Lorenzo, additional, Direskeneli, Haner, additional, Calamia, Kenneth, additional, David, Gloria L., additional, Zeldin, Darryl C., additional, Schütte, Bärbel, additional, Denson, Lee A., additional, Erhardt, Andreas, additional, Kubitz, Ralf, additional, Häussinger, Dieter, additional, Sealey, Wendy M., additional, Mock, Donald M., additional, Wolf, Barry, additional, Schumacher, Johannes, additional, Propping, Peter, additional, Metze, Dieter, additional, Leung, Alexander K. C., additional, Wong, Andrew L., additional, Hengstschläger, Markus, additional, High, Whitney A., additional, Shroyer, Kenneth R., additional, McCready, M. Elizabeth, additional, Bulman, Dennis E., additional, Afzal, Ali R., additional, Everman, David B., additional, Stoll, Claude, additional, Darcan, Sukran, additional, Kou, Yu Ru, additional, Lin, You Shuei, additional, Suzuki, Yoichi, additional, Tada, Keiya, additional, Kupka, Susan, additional, Dietmaier, Wolfgang, additional, Hartmann, Arndt, additional, Hennekam, Raoul C. M., additional, Belperio, John A., additional, Keane, Michael P., additional, Smith, M. Iain, additional, Strieter, Robert M., additional, Molfino, Nestor A., additional, Sciandra, Francesca, additional, Rossenbacker, Tom, additional, Priori, Silvia G., additional, Senzolo, Marco, additional, Triantos, Christos, additional, Samonakis, Dimitrios, additional, Cholongitas, Evangelos, additional, Burroughs, Andrew K., additional, Mura, Marco, additional, Braun-Falco, Markus, additional, Hofmann, Silke, additional, and Bruckner-Tuderman, Leena, additional

Published
2009
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43. Bethlem Myopathy

Author

Leung, Alexander K. C., primary, Schmitt, Marcus, additional, Thomas, Christie P., additional, Sunderkötter, Cord, additional, Schiller, Meinhard, additional, Schwarz, Thomas, additional, Berneburg, Mark, additional, Kohlschütter, Alfried, additional, Cerroni, Lorenzo, additional, Direskeneli, Haner, additional, Calamia, Kenneth, additional, David, Gloria L., additional, Zeldin, Darryl C., additional, Schütte, Bärbel, additional, Denson, Lee A., additional, Erhardt, Andreas, additional, Kubitz, Ralf, additional, Häussinger, Dieter, additional, Sealey, Wendy M., additional, Mock, Donald M., additional, Wolf, Barry, additional, Schumacher, Johannes, additional, Propping, Peter, additional, Metze, Dieter, additional, Leung, Alexander K. C., additional, Wong, Andrew L., additional, Hengstschläger, Markus, additional, High, Whitney A., additional, Shroyer, Kenneth R., additional, McCready, M. Elizabeth, additional, Bulman, Dennis E., additional, Afzal, Ali R., additional, Everman, David B., additional, Stoll, Claude, additional, Darcan, Sukran, additional, Kou, Yu Ru, additional, Lin, You Shuei, additional, Suzuki, Yoichi, additional, Tada, Keiya, additional, Kupka, Susan, additional, Dietmaier, Wolfgang, additional, Hartmann, Arndt, additional, Hennekam, Raoul C. M., additional, Belperio, John A., additional, Keane, Michael P., additional, Smith, M. Iain, additional, Strieter, Robert M., additional, Molfino, Nestor A., additional, Sciandra, Francesca, additional, Rossenbacker, Tom, additional, Priori, Silvia G., additional, Senzolo, Marco, additional, Triantos, Christos, additional, Samonakis, Dimitrios, additional, Cholongitas, Evangelos, additional, Burroughs, Andrew K., additional, Mura, Marco, additional, Braun-Falco, Markus, additional, Hofmann, Silke, additional, and Bruckner-Tuderman, Leena, additional

Published
2009
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44. Benign Joint Hypermobility Syndrome

Author

Leung, Alexander K. C., primary, Schmitt, Marcus, additional, Thomas, Christie P., additional, Sunderkötter, Cord, additional, Schiller, Meinhard, additional, Schwarz, Thomas, additional, Berneburg, Mark, additional, Kohlschütter, Alfried, additional, Cerroni, Lorenzo, additional, Direskeneli, Haner, additional, Calamia, Kenneth, additional, David, Gloria L., additional, Zeldin, Darryl C., additional, Schütte, Bärbel, additional, Denson, Lee A., additional, Erhardt, Andreas, additional, Kubitz, Ralf, additional, Häussinger, Dieter, additional, Sealey, Wendy M., additional, Mock, Donald M., additional, Wolf, Barry, additional, Schumacher, Johannes, additional, Propping, Peter, additional, Metze, Dieter, additional, Leung, Alexander K. C., additional, Wong, Andrew L., additional, Hengstschläger, Markus, additional, High, Whitney A., additional, Shroyer, Kenneth R., additional, McCready, M. Elizabeth, additional, Bulman, Dennis E., additional, Afzal, Ali R., additional, Everman, David B., additional, Stoll, Claude, additional, Darcan, Sukran, additional, Kou, Yu Ru, additional, Lin, You Shuei, additional, Suzuki, Yoichi, additional, Tada, Keiya, additional, Kupka, Susan, additional, Dietmaier, Wolfgang, additional, Hartmann, Arndt, additional, Hennekam, Raoul C. M., additional, Belperio, John A., additional, Keane, Michael P., additional, Smith, M. Iain, additional, Strieter, Robert M., additional, Molfino, Nestor A., additional, Sciandra, Francesca, additional, Rossenbacker, Tom, additional, Priori, Silvia G., additional, Senzolo, Marco, additional, Triantos, Christos, additional, Samonakis, Dimitrios, additional, Cholongitas, Evangelos, additional, Burroughs, Andrew K., additional, Mura, Marco, additional, Braun-Falco, Markus, additional, Hofmann, Silke, additional, and Bruckner-Tuderman, Leena, additional

Published
2009
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45. Bloch-Sulzberger Syndrome

Author

Leung, Alexander K. C., primary, Schmitt, Marcus, additional, Thomas, Christie P., additional, Sunderkötter, Cord, additional, Schiller, Meinhard, additional, Schwarz, Thomas, additional, Berneburg, Mark, additional, Kohlschütter, Alfried, additional, Cerroni, Lorenzo, additional, Direskeneli, Haner, additional, Calamia, Kenneth, additional, David, Gloria L., additional, Zeldin, Darryl C., additional, Schütte, Bärbel, additional, Denson, Lee A., additional, Erhardt, Andreas, additional, Kubitz, Ralf, additional, Häussinger, Dieter, additional, Sealey, Wendy M., additional, Mock, Donald M., additional, Wolf, Barry, additional, Schumacher, Johannes, additional, Propping, Peter, additional, Metze, Dieter, additional, Leung, Alexander K. C., additional, Wong, Andrew L., additional, Hengstschläger, Markus, additional, High, Whitney A., additional, Shroyer, Kenneth R., additional, McCready, M. Elizabeth, additional, Bulman, Dennis E., additional, Afzal, Ali R., additional, Everman, David B., additional, Stoll, Claude, additional, Darcan, Sukran, additional, Kou, Yu Ru, additional, Lin, You Shuei, additional, Suzuki, Yoichi, additional, Tada, Keiya, additional, Kupka, Susan, additional, Dietmaier, Wolfgang, additional, Hartmann, Arndt, additional, Hennekam, Raoul C. M., additional, Belperio, John A., additional, Keane, Michael P., additional, Smith, M. Iain, additional, Strieter, Robert M., additional, Molfino, Nestor A., additional, Sciandra, Francesca, additional, Rossenbacker, Tom, additional, Priori, Silvia G., additional, Senzolo, Marco, additional, Triantos, Christos, additional, Samonakis, Dimitrios, additional, Cholongitas, Evangelos, additional, Burroughs, Andrew K., additional, Mura, Marco, additional, Braun-Falco, Markus, additional, Hofmann, Silke, additional, and Bruckner-Tuderman, Leena, additional

Published
2009
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46. Bone Marrow Infiltration

Author

Leung, Alexander K. C., primary, Schmitt, Marcus, additional, Thomas, Christie P., additional, Sunderkötter, Cord, additional, Schiller, Meinhard, additional, Schwarz, Thomas, additional, Berneburg, Mark, additional, Kohlschütter, Alfried, additional, Cerroni, Lorenzo, additional, Direskeneli, Haner, additional, Calamia, Kenneth, additional, David, Gloria L., additional, Zeldin, Darryl C., additional, Schütte, Bärbel, additional, Denson, Lee A., additional, Erhardt, Andreas, additional, Kubitz, Ralf, additional, Häussinger, Dieter, additional, Sealey, Wendy M., additional, Mock, Donald M., additional, Wolf, Barry, additional, Schumacher, Johannes, additional, Propping, Peter, additional, Metze, Dieter, additional, Leung, Alexander K. C., additional, Wong, Andrew L., additional, Hengstschläger, Markus, additional, High, Whitney A., additional, Shroyer, Kenneth R., additional, McCready, M. Elizabeth, additional, Bulman, Dennis E., additional, Afzal, Ali R., additional, Everman, David B., additional, Stoll, Claude, additional, Darcan, Sukran, additional, Kou, Yu Ru, additional, Lin, You Shuei, additional, Suzuki, Yoichi, additional, Tada, Keiya, additional, Kupka, Susan, additional, Dietmaier, Wolfgang, additional, Hartmann, Arndt, additional, Hennekam, Raoul C. M., additional, Belperio, John A., additional, Keane, Michael P., additional, Smith, M. Iain, additional, Strieter, Robert M., additional, Molfino, Nestor A., additional, Sciandra, Francesca, additional, Rossenbacker, Tom, additional, Priori, Silvia G., additional, Senzolo, Marco, additional, Triantos, Christos, additional, Samonakis, Dimitrios, additional, Cholongitas, Evangelos, additional, Burroughs, Andrew K., additional, Mura, Marco, additional, Braun-Falco, Markus, additional, Hofmann, Silke, additional, and Bruckner-Tuderman, Leena, additional

Published
2009
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47. Best's Vitelliform Macular Dystrophy

Author

Leung, Alexander K. C., primary, Schmitt, Marcus, additional, Thomas, Christie P., additional, Sunderkötter, Cord, additional, Schiller, Meinhard, additional, Schwarz, Thomas, additional, Berneburg, Mark, additional, Kohlschütter, Alfried, additional, Cerroni, Lorenzo, additional, Direskeneli, Haner, additional, Calamia, Kenneth, additional, David, Gloria L., additional, Zeldin, Darryl C., additional, Schütte, Bärbel, additional, Denson, Lee A., additional, Erhardt, Andreas, additional, Kubitz, Ralf, additional, Häussinger, Dieter, additional, Sealey, Wendy M., additional, Mock, Donald M., additional, Wolf, Barry, additional, Schumacher, Johannes, additional, Propping, Peter, additional, Metze, Dieter, additional, Leung, Alexander K. C., additional, Wong, Andrew L., additional, Hengstschläger, Markus, additional, High, Whitney A., additional, Shroyer, Kenneth R., additional, McCready, M. Elizabeth, additional, Bulman, Dennis E., additional, Afzal, Ali R., additional, Everman, David B., additional, Stoll, Claude, additional, Darcan, Sukran, additional, Kou, Yu Ru, additional, Lin, You Shuei, additional, Suzuki, Yoichi, additional, Tada, Keiya, additional, Kupka, Susan, additional, Dietmaier, Wolfgang, additional, Hartmann, Arndt, additional, Hennekam, Raoul C. M., additional, Belperio, John A., additional, Keane, Michael P., additional, Smith, M. Iain, additional, Strieter, Robert M., additional, Molfino, Nestor A., additional, Sciandra, Francesca, additional, Rossenbacker, Tom, additional, Priori, Silvia G., additional, Senzolo, Marco, additional, Triantos, Christos, additional, Samonakis, Dimitrios, additional, Cholongitas, Evangelos, additional, Burroughs, Andrew K., additional, Mura, Marco, additional, Braun-Falco, Markus, additional, Hofmann, Silke, additional, and Bruckner-Tuderman, Leena, additional

Published
2009
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48. Blackfan-Diamond Syndrome

Author

Leung, Alexander K. C., primary, Schmitt, Marcus, additional, Thomas, Christie P., additional, Sunderkötter, Cord, additional, Schiller, Meinhard, additional, Schwarz, Thomas, additional, Berneburg, Mark, additional, Kohlschütter, Alfried, additional, Cerroni, Lorenzo, additional, Direskeneli, Haner, additional, Calamia, Kenneth, additional, David, Gloria L., additional, Zeldin, Darryl C., additional, Schütte, Bärbel, additional, Denson, Lee A., additional, Erhardt, Andreas, additional, Kubitz, Ralf, additional, Häussinger, Dieter, additional, Sealey, Wendy M., additional, Mock, Donald M., additional, Wolf, Barry, additional, Schumacher, Johannes, additional, Propping, Peter, additional, Metze, Dieter, additional, Leung, Alexander K. C., additional, Wong, Andrew L., additional, Hengstschläger, Markus, additional, High, Whitney A., additional, Shroyer, Kenneth R., additional, McCready, M. Elizabeth, additional, Bulman, Dennis E., additional, Afzal, Ali R., additional, Everman, David B., additional, Stoll, Claude, additional, Darcan, Sukran, additional, Kou, Yu Ru, additional, Lin, You Shuei, additional, Suzuki, Yoichi, additional, Tada, Keiya, additional, Kupka, Susan, additional, Dietmaier, Wolfgang, additional, Hartmann, Arndt, additional, Hennekam, Raoul C. M., additional, Belperio, John A., additional, Keane, Michael P., additional, Smith, M. Iain, additional, Strieter, Robert M., additional, Molfino, Nestor A., additional, Sciandra, Francesca, additional, Rossenbacker, Tom, additional, Priori, Silvia G., additional, Senzolo, Marco, additional, Triantos, Christos, additional, Samonakis, Dimitrios, additional, Cholongitas, Evangelos, additional, Burroughs, Andrew K., additional, Mura, Marco, additional, Braun-Falco, Markus, additional, Hofmann, Silke, additional, and Bruckner-Tuderman, Leena, additional

Published
2009
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49. Brugada Syndrome

Author

Leung, Alexander K. C., primary, Schmitt, Marcus, additional, Thomas, Christie P., additional, Sunderkötter, Cord, additional, Schiller, Meinhard, additional, Schwarz, Thomas, additional, Berneburg, Mark, additional, Kohlschütter, Alfried, additional, Cerroni, Lorenzo, additional, Direskeneli, Haner, additional, Calamia, Kenneth, additional, David, Gloria L., additional, Zeldin, Darryl C., additional, Schütte, Bärbel, additional, Denson, Lee A., additional, Erhardt, Andreas, additional, Kubitz, Ralf, additional, Häussinger, Dieter, additional, Sealey, Wendy M., additional, Mock, Donald M., additional, Wolf, Barry, additional, Schumacher, Johannes, additional, Propping, Peter, additional, Metze, Dieter, additional, Leung, Alexander K. C., additional, Wong, Andrew L., additional, Hengstschläger, Markus, additional, High, Whitney A., additional, Shroyer, Kenneth R., additional, McCready, M. Elizabeth, additional, Bulman, Dennis E., additional, Afzal, Ali R., additional, Everman, David B., additional, Stoll, Claude, additional, Darcan, Sukran, additional, Kou, Yu Ru, additional, Lin, You Shuei, additional, Suzuki, Yoichi, additional, Tada, Keiya, additional, Kupka, Susan, additional, Dietmaier, Wolfgang, additional, Hartmann, Arndt, additional, Hennekam, Raoul C. M., additional, Belperio, John A., additional, Keane, Michael P., additional, Smith, M. Iain, additional, Strieter, Robert M., additional, Molfino, Nestor A., additional, Sciandra, Francesca, additional, Rossenbacker, Tom, additional, Priori, Silvia G., additional, Senzolo, Marco, additional, Triantos, Christos, additional, Samonakis, Dimitrios, additional, Cholongitas, Evangelos, additional, Burroughs, Andrew K., additional, Mura, Marco, additional, Braun-Falco, Markus, additional, Hofmann, Silke, additional, and Bruckner-Tuderman, Leena, additional

Published
2009
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50. Benign Familial Neonatal, Neonatal-infantile or Infantile Convulsions

Author

Leung, Alexander K. C., primary, Schmitt, Marcus, additional, Thomas, Christie P., additional, Sunderkötter, Cord, additional, Schiller, Meinhard, additional, Schwarz, Thomas, additional, Berneburg, Mark, additional, Kohlschütter, Alfried, additional, Cerroni, Lorenzo, additional, Direskeneli, Haner, additional, Calamia, Kenneth, additional, David, Gloria L., additional, Zeldin, Darryl C., additional, Schütte, Bärbel, additional, Denson, Lee A., additional, Erhardt, Andreas, additional, Kubitz, Ralf, additional, Häussinger, Dieter, additional, Sealey, Wendy M., additional, Mock, Donald M., additional, Wolf, Barry, additional, Schumacher, Johannes, additional, Propping, Peter, additional, Metze, Dieter, additional, Leung, Alexander K. C., additional, Wong, Andrew L., additional, Hengstschläger, Markus, additional, High, Whitney A., additional, Shroyer, Kenneth R., additional, McCready, M. Elizabeth, additional, Bulman, Dennis E., additional, Afzal, Ali R., additional, Everman, David B., additional, Stoll, Claude, additional, Darcan, Sukran, additional, Kou, Yu Ru, additional, Lin, You Shuei, additional, Suzuki, Yoichi, additional, Tada, Keiya, additional, Kupka, Susan, additional, Dietmaier, Wolfgang, additional, Hartmann, Arndt, additional, Hennekam, Raoul C. M., additional, Belperio, John A., additional, Keane, Michael P., additional, Smith, M. Iain, additional, Strieter, Robert M., additional, Molfino, Nestor A., additional, Sciandra, Francesca, additional, Rossenbacker, Tom, additional, Priori, Silvia G., additional, Senzolo, Marco, additional, Triantos, Christos, additional, Samonakis, Dimitrios, additional, Cholongitas, Evangelos, additional, Burroughs, Andrew K., additional, Mura, Marco, additional, Braun-Falco, Markus, additional, Hofmann, Silke, additional, and Bruckner-Tuderman, Leena, additional

Published
2009
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