The prevalence of intragenic deletions in patients with idiopathic hypogonadotropic hypogonadism and Kallmann syndrome

Por Pedersen-White, Jennifer R., Chorich, Lynn P., Bick, David P., Sherins, Richard J., Layman, Lawrence C.
Publicado em 2008

Preimplantation HLA haplotyping using tri-, tetra-, and pentanucleotide short tandem repeats for HLA matching

Por Bick, Sarah L., Bick, David P., Wells, Brent E., Roesler, Mark R., Strawn, Estil Y., Lau, Eduardo C.
Publicado em 2008

Birth of a healthy infant following preimplantation PKHD1 haplotyping for autosomal recessive polycystic kidney disease using multiple displacement amplification

Por Lau, Eduardo C., Janson, Marleen M., Roesler, Mark R., Avner, Ellis D., Strawn, Estil Y., Bick, David P.
Publicado em 2010

The prevalence of digenic mutations in patients with normosmic hypogonadotropic hypogonadism and Kallmann syndrome

Por Quaynor, Samuel D., Kim, Hyung-Goo, Cappello, Elizabeth M., Williams, Tiera, Chorich, Lynn P., Bick, David P., Sherins, Richard J., Layman, Lawrence C.
Publicado em 2011

Zoom‐in comparative genomic hybridisation arrays for the characterisation of variable breakpoint contiguous gene syndromes

Por Johnston, Jennifer J, Walker, Robert L, Davis, Sean, Facio, Flavia, Turner, Joyce T, Bick, David P, Daentl, Donna L, Ellison, Jay W, Meltzer, Paul S, Biesecker, Leslie G
Publicado em 2007

AKT1 gene mutation levels are correlated with the type of dermatologic lesions in patients with Proteus syndrome

Por Lindhurst, Marjorie J., Wang, Ji-an, Bloomhardt, Hadley M., Witkowski, Alison M., Singh, Larry N., Bick, David P., Gambello, Michael J., Powell, Cynthia M., Lee, Chyi-Chia Richard, Darling, Thomas N., Biesecker, Leslie G.
Publicado em 2013

Human gene copy number spectra analysis in congenital heart malformations

Por Tomita-Mitchell, Aoy, Mahnke, Donna K., Struble, Craig A., Tuffnell, Maureen E., Stamm, Karl D., Hidestrand, Mats, Harris, Susan E., Goetsch, Mary A., Simpson, Pippa M., Bick, David P., Broeckel, Ulrich, Pelech, Andrew N., Tweddell, James S., Mitchell, Michael E.
Publicado em 2012

Recurrent ACADVL molecular findings in individuals with a positive newborn screen for very long chain acyl-coA dehydrogenase (VLCAD) deficiency in the United States

Por Miller, Marcus J., Burrage, Lindsay C., Gibson, James B., Strenk, Meghan E., Lose, Edward J., Bick, David P., Elsea, Sarah H., Sutton, V. Reid, Sun, Qin, Graham, Brett H., Craigen, William J., Zhang, Victor Wei, Wong, Lee-Jun C.
Publicado no Mol Genet Metab (2015)

Mutations in CHD7, Encoding a Chromatin-Remodeling Protein, Cause Idiopathic Hypogonadotropic Hypogonadism and Kallmann Syndrome

Por Kim, Hyung-Goo, Kurth, Ingo, Lan, Fei, Meliciani, Irene, Wenzel, Wolfgang, Eom, Soo Hyun, Kang, Gil Bu, Rosenberger, Georg, Tekin, Mustafa, Ozata, Metin, Bick, David P., Sherins, Richard J., Walker, Steven L., Shi, Yang, Gusella, James F., Layman, Lawrence C.
Publicado em 2008

Nasal Embryonic LHRH Factor (NELF) Mutations in Patients with Normosmic Hypogonadotropic Hypogonadism and Kallmann Syndrome

Por Xu, Ning, Kim, Hyung-Goo, Bhagavath, Balasubramanian, Cho, Sung-Gyu, Lee, Jae Ho, Ha, Kyungsoo, Meliciani, Irene, Wenzel, Wolfgang, Podolsky, Robert H., Chorich, Lynn P., Stackhouse, Kathryn A., Grove, Anna M.H., Odom, Lawrence N., Ozata, Metin, Bick, David P., Sherins, Richard J., Kim, Soo-Hyun, Cameron, Richard S., Layman, Lawrence C.
Publicado em 2011

WDR11, a WD Protein that Interacts with Transcription Factor EMX1, Is Mutated in Idiopathic Hypogonadotropic Hypogonadism and Kallmann Syndrome

Por Kim, Hyung-Goo, Ahn, Jang-Won, Kurth, Ingo, Ullmann, Reinhard, Kim, Hyun-Taek, Kulharya, Anita, Ha, Kyung-Soo, Itokawa, Yasuhide, Meliciani, Irene, Wenzel, Wolfgang, Lee, Deresa, Rosenberger, Georg, Ozata, Metin, Bick, David P., Sherins, Richard J., Nagase, Takahiro, Tekin, Mustafa, Kim, Soo-Hyun, Kim, Cheol-Hee, Ropers, Hans-Hilger, Gusella, James F., Kalscheuer, Vera, Choi, Cheol Yong, Layman, Lawrence C.
Publicado em 2010

Assuring the quality of next-generation sequencing in clinical laboratory practice

Por Gargis, Amy S, Kalman, Lisa, Berry, Meredith W, Bick, David P, Dimmock, David P, Hambuch, Tina, Lu, Fei, Lyon, Elaine, Voelkerding, Karl V, Zehnbauer, Barbara A, Agarwala, Richa, Bennett, Sarah F, Chen, Bin, Chin, Ephrem L H, Compton, John G, Das, Soma, Farkas, Daniel H, Ferber, Matthew J, Funke, Birgit H, Furtado, Manohar R, Ganova-Raeva, Lilia M, Geigenmüller, Ute, Gunselman, Sandra J, Hegde, Madhuri R, Johnson, Philip L F, Kasarskis, Andrew, Kulkarni, Shashikant, Lenk, Thomas, Liu, C S Jonathan, Manion, Megan, Manolio, Teri A, Mardis, Elaine R, Merker, Jason D, Rajeevan, Mangalathu S, Reese, Martin G, Rehm, Heidi L, Simen, Birgitte B, Yeakley, Joanne M, Zook, Justin M, Lubin, Ira M
Publicado em 2012

Leiomodin-3 dysfunction results in thin filament disorganization and nemaline myopathy

Por Yuen, Michaela, Sandaradura, Sarah A., Dowling, James J., Kostyukova, Alla S., Moroz, Natalia, Quinlan, Kate G., Lehtokari, Vilma-Lotta, Ravenscroft, Gianina, Todd, Emily J., Ceyhan-Birsoy, Ozge, Gokhin, David S., Maluenda, Jérome, Lek, Monkol, Nolent, Flora, Pappas, Christopher T., Novak, Stefanie M., D’Amico, Adele, Malfatti, Edoardo, Thomas, Brett P., Gabriel, Stacey B., Gupta, Namrata, Daly, Mark J., Ilkovski, Biljana, Houweling, Peter J., Davidson, Ann E., Swanson, Lindsay C., Brownstein, Catherine A., Gupta, Vandana A., Medne, Livija, Shannon, Patrick, Martin, Nicole, Bick, David P., Flisberg, Anders, Holmberg, Eva, Van den Bergh, Peter, Lapunzina, Pablo, Waddell, Leigh B., Sloboda, Darcée D., Bertini, Enrico, Chitayat, David, Telfer, William R., Laquerrière, Annie, Gregorio, Carol C., Ottenheijm, Coen A.C., Bönnemann, Carsten G., Pelin, Katarina, Beggs, Alan H., Hayashi, Yukiko K., Romero, Norma B., Laing, Nigel G., Nishino, Ichizo, Wallgren-Pettersson, Carina, Melki, Judith, Fowler, Velia M., MacArthur, Daniel G., North, Kathryn N., Clarke, Nigel F.
Publicado no J Clin Invest (2014)

Leiomodin-3 dysfunction results in thin filament disorganization and nemaline myopathy

Por Yuen, Michaela, Sandaradura, Sarah A., Dowling, James J., Kostyukova, Alla S., Moroz, Natalia, Quinlan, Kate G., Lehtokari, Vilma-Lotta, Ravenscroft, Gianina, Todd, Emily J., Ceyhan-Birsoy, Ozge, Gokhin, David S., Maluenda, Jérome, Lek, Monkol, Nolent, Flora, Pappas, Christopher T., Novak, Stefanie M., D’Amico, Adele, Malfatti, Edoardo, Thomas, Brett P., Gabriel, Stacey B., Gupta, Namrata, Daly, Mark J., Ilkovski, Biljana, Houweling, Peter J., Davidson, Ann E., Swanson, Lindsay C., Brownstein, Catherine A., Gupta, Vandana A., Medne, Livija, Shannon, Patrick, Martin, Nicole, Bick, David P., Flisberg, Anders, Holmberg, Eva, Van den Bergh, Peter, Lapunzina, Pablo, Waddell, Leigh B., Sloboda, Darcée D., Bertini, Enrico, Chitayat, David, Telfer, William R., Laquerrière, Annie, Gregorio, Carol C., Ottenheijm, Coen A.C., Bönnemann, Carsten G., Pelin, Katarina, Beggs, Alan H., Hayashi, Yukiko K., Romero, Norma B., Laing, Nigel G., Nishino, Ichizo, Wallgren-Pettersson, Carina, Melki, Judith, Fowler, Velia M., MacArthur, Daniel G., North, Kathryn N., Clarke, Nigel F.
Publicado no J Clin Invest (2015)