Diagnostic DHPLC Quality Assurance (DDQA): A collaborative approach to the generation of validated and standardized methods for DHPLC‐based mutation screening in clinical genetics laboratories

by Schollen, Els, Dequeker, Elisabeth, McQuaid, Shirley, Vankeirsbilck, Bruno, Michils, Geneviève, Harvey, John, van den Akker, Eric, van Schooten, Ron, Clark, Zandra, Schrooten, Stephan, Matthijs, Gert
Published in Human mutation

Online Mendelian Inheritance In Man (OMIM)

by Hamosh, Ada, Scott, Alan F., Amberger, Joanna, Valle, David, McKusick, Victor A.
Published in Human mutation

GeneTests-GeneClinics: Genetic testing information for a growing audience

by Pagon, Roberta A., Tarczy-Hornoch, Peter, Baskin, Patricia K., Edwards, Joseph E., Covington, Maxine L., Espeseth, Miriam, Beahler, Christine, Bird, Thomas D., Popovich, Bradley, Nesbitt, Charli, Dolan, Cynthia, Marymee, Kathi, Hanson, Nancy B., Neufeld-Kaiser, Whitney, Grohs, Gina McCullough, Kicklighter, Tracy, Abair, Cynthia, Malmin, Audin, Barclay, Matthew, Palepu, Rajasri Dharani
Published in Human mutation

Commercial molecular diagnostics in the U.S.: The Human Genome Project to the clinical laboratory

by Amos, Jean, Patnaik, Meeta
Published in Human mutation

Novel mutations in ENG and ACVRL1 identified in a series of 200 individuals undergoing clinical genetic testing for hereditary hemorrhagic telangiectasia (HHT): correlation of genotype with phenotype

by Bossler, Aaron D., Richards, Jennifer, George, Cicily, Godmilow, Lynn, Ganguly, Arupa
Published in Human mutation

Identification of specific BRCA1 and BRCA2 variants by DHPLC

by Gross, Eva, Arnold, Norbert, Pfeifer, Katharina, Bandick, Katrin, Kiechle, Marion
Published in Human mutation

Detection of the ΔF508 (F508del) mutation of the cystic fibrosis gene by surface plasmon resonance and biosensor technology

by Feriotto, Giordana, Lucci, Marco, Bianchi, Nicoletta, Mischiati, Carlo, Gambari, Roberto
Published in Human mutation

Consortium for osteogenesis imperfecta mutations in the helical domain of type I collagen: regions rich in lethal mutations align with collagen binding sites for integrins and prot...

by Marini, Joan C., Forlino, Antonella, Cabral, Wayne A., Barnes, Aileen M., San Antonio, James D., Milgrom, Sarah, Hyland, James C., Körkkö, Jarmo, Prockop, Darwin J., De Paepe, Anne, Coucke, Paul, Symoens, Sofie, Glorieux, Francis H., Roughley, Peter J., Lund, Alan M., Kuurila-Svahn, Kaija, Hartikka, Heini, Cohn, Daniel H., Krakow, Deborah, Mottes, Monica, Schwarze, Ulrike, Chen, Diana, Yang, Kathleen, Kuslich, Christine, Troendle, James, Dalgleish, Raymond, Byers, Peter H.
Published in Human mutation

Specifications of the ACMG/AMP Variant Classification Guidelines for Germline DICER1 Variant Curation

by Hatton, Jessica N., Frone, Megan N., Cox, Hannah C., Crowley, Stephanie B., Hiraki, Susan, Yokoyama, Noriko N., Abul-Husn, Noura S., Amatruda, James F., Anderson, Michael J., Bofill-De Ros, Xavier, Carr, Ann G., Chao, Elizabeth C., Chen, Kenneth S., Gu, Shuo, Higgs, Cecilia, Machado, Jerry, Ritter, Deborah, Schultz, Kris Ann P., Soper, Emily R., Wu, Mona K., Mester, Jessica L., Kim, Jung, Foulkes, William D., Witkowski, Leora, Stewart, Douglas R.
Published in Human mutation

Reduced secretion of fibulin 5 in age-related macular degeneration and cutis laxa

by Lotery, Andrew J., Baas, Dominique, Ridley, Caroline, Jones, Richard P.O., Klaver, Caroline C.W., Stone, Edwin, Nakamura, Tomoyuki, Luff, Andrew, Griffiths, Helen, Wang, Tao, Bergen, Arthur A.B., Trump, Dorothy
Published in Human mutation

Detection of the ?F508 (F508del) mutation of the cystic fibrosis gene by surface plasmon resonance and biosensor technology

by Feriotto, Giordana, Lucci, Marco, Bianchi, Nicoletta, Mischiati, Carlo, Gambari, Roberto
Published in Human mutation

Detection of the deltaF508 (F508del) mutation of the cystic fibrosis gene by surface plasmon resonance and biosensor technology

by Feriotto, G, Lucci, M, Bianchi, N, Mischiati, C, Gambari, R
Published in Human mutation

A Likelihood Ratio Approach for Utilizing Case-Control Data in the Clinical Classification of Rare Sequence Variants: Application to BRCA1 and BRCA2

by Zanti, Maria, O'Mahony, Denise G., Parsons, Michael T., Dennis, Joe, Aittomäkkiki, Kristiina, Andrulis, Irene L., Augustinsson, Annelie, Becher, Heiko, Bojesen, Stig E., Bolla, Manjeet K., Brenner, Hermann, Buys, Saundra S., Canzian, Federico, Caputo, Sandrine M., Castelao, Jose E., Chang-Claude, Jenny, GC-HBOC study Collaborators, Czene, Kamila, Daly, Mary B., De Nicolo, Arcangela, Devilee, Peter, Dörk, Thilo, Dwek, Miriam, Engel, Christoph, Evans, D. Gareth, Fasching, Peter A., Gago-Dominguez, Manuela, García-Closas, Montserrat, García-Sáenz, José A., Gentry-Maharaj, Aleksandra, Geurts - Giele, Willemina R. R., Giles, Graham G., Glendon, Gord, Goldberg, Mark S., Güendert, Melanie, Hall, Per, Hogervorst, Frans B. L., Hollestelle, Antoinette, Hopper, John L., Houdayer, Claude, Houlston, Richard S., ABCTB Investigators, Jakimovska, Milena, Jakubowska, Anna, Jernström, Helena, John, Esther M., Kaaks, Rudolf, Kitahara, Cari M., Koutros, Stella, Kraft, Peter, Kristensen, Vessela N., Lacey, James V., Lambrechts, Diether, Léoné, Melanie, Lindblom, Annika, Lubiński, Jan, Mannermaa, Arto, Manoochehri, Mehdi, Manoukian, Siranoush, Martinez, Maria Elena, Milne, Roger L., Monteiro, Alvaro N., Murphy, Rachel A., Nevanlinna, Heli, Newman, William G., Park, Sue K., James, Paul, Peterlongo, Paolo, Peto, Julian, Plaseska-Karanfilska, Dijana, Punie, Kevin, Radice, Paolo, Rashid, Muhammad U., Rennert, Gad, Romero, Atocha, Rosenberg, Efraim H., Saloustros, Emmanouil, Schmutzler, Rita K., Shu, Xiao-Ou, Simard, Jacques, Southey, Melissa C., Stone, Jennifer, Stoppa-Lyonnet, Dominique, Tamimi, Rulla M., Tapper, William J., Taylor, Jack A., Teo, Soo Hwang, Teras, Lauren R., Terry, Mary Beth, Thomassen, Mads, Vachon, Celine M., Vega, Ana, Wang, Qin, Weinberg, Clarice R., Wolk, Alicja, Zheng, Wei, Feng, Bingjian, Couch, Fergus J., Spurdle, Amanda B., Easton, Douglas F.
Published in Human mutation

Role of β-galactosidase and elastin binding protein in lysosomal and nonlysosomal complexes of patients with GM1-gangliosidosis

by Caciotti, Anna, Donati, Maria Alice, Boneh, Avihu, d'Azzo, Alessandra, Federico, Antonio, Parini, Rossella, Antuzzi, Danielas, Bardelli, Tiziana, Nosi, Daniele, Kimonis, Virginia, Zammarchi, Enrico, Morrone, Amelia
Published in Human mutation

Role of ?-galactosidase and elastin binding protein in lysosomal and nonlysosomal complexes of patients with GM1-gangliosidosis

by Caciotti, Anna, Donati, Maria Alice, Boneh, Avihu, d'Azzo, Alessandra, Federico, Antonio, Parini, Rossella, Antuzzi, Danielas, Bardelli, Tiziana, Nosi, Daniele, Kimonis, Virginia, Zammarchi, Enrico, Morrone, Amelia
Published in Human mutation

Role of beta -galactosidase and elastin binding protein in lysosomal and nonlysosomal complexes of patients with G sub(M1)-gangliosidosis

by Caciotti, Anna, Donati, Maria Alice, Boneh, Avihu, D'Azzo, Alessandra, Federico, Antonio, Parini, Rossella, Antuzzi, Danielas, Bardelli, Tiziana, Nosi, Daniele, Kimonis, Virginia, Zammarchi, Enrico, Morrone, Amelia
Published in Human mutation

Functional Assays Combined with Pre-mRNA-Splicing Analysis Improve Variant Classification and Diagnostics for Individuals with Neurofibromatosis Type 1 and Legius Syndrome

by Douben, Hannie, Hoogeveen-Westerveld, Marianne, Nellist, Mark, Louwen, Jesse, Haan, Marian Kroos-de, Punt, Mattijs, van Ommeren, Babeth, van Unen, Leontine, Elfferich, Peter, Kasteleijn, Esmee, van Bever, Yolande, van Vliet, Margreethe, Oostenbrink, Rianne, Saris, Jasper J., Wagner, Anja, van Ierland, Yvette, van Ham, Tjakko, van Minkelen, Rick
Published in Human mutation

Evaluating the Utility of REVEL and CADD for Interpreting Variants in Amyotrophic Lateral Sclerosis Genes

by Fiorini, Michael R., Dilliott, Allison A., Farhan, Sali M. K.
Published in Human mutation

Mutations of the TGF-β type II receptor BMPR2 in pulmonary arterial hypertension

by Machado, Rajiv D., Aldred, Micheala A., James, Victoria, Harrison, Rachel E., Patel, Bhakti, Schwalbe, Edward C., Gruenig, Ekkehard, Janssen, Bart, Koehler, Rolf, Seeger, Werner, Eickelberg, Oliver, Olschewski, Horst, Gregory Elliott, C., Glissmeyer, Eric, Carlquist, John, Kim, Miryoung, Torbicki, Adam, Fijalkowska, Anna, Szewczyk, Grzegorz, Parma, Jasmine, Abramowicz, Marc J., Galie, Nazzareno, Morisaki, Hiroko, Kyotani, Shingo, Nakanishi, Norifumi, Morisaki, Takayuki, Humbert, Marc, Simonneau, Gerald, Sitbon, Olivier, Soubrier, Florent, Coulet, Florence, Morrell, Nicholas W., Trembath, Richard C.
Published in Human mutation

PTEN: One Gene, Many Syndromes

by Eng, Charis
Published in Human mutation