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

le Pedersen-White, Jennifer R., Chorich, Lynn P., Bick, David P., Sherins, Richard J., Layman, Lawrence C.
Foilsithe 2008

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

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

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

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

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

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

A Rare Combination of Functional Disomy Xp, Deletion Xq13.2-q28 Spanning the XIST Gene, and Duplication 3q25.33-q29 in a Female with der(X)t(X;3)(q13.2;q25.33)

le Peterson, Jess F., Basel, Donald G., Bick, David P., Chirempes, Brett, Lorier, Rachel B., Zemlicka, Nykula, Grignon, John W., Weik, LuAnn, Kappes, Ulrike
Foilsithe in J Pediatr Genet (2018)

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

le 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
Foilsithe 2007

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

le 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.
Foilsithe 2013

Human gene copy number spectra analysis in congenital heart malformations

le 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.
Foilsithe 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

le 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.
Foilsithe in Mol Genet Metab (2015)

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

le 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.
Foilsithe 2008

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

le 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.
Foilsithe 2011

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

le 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.
Foilsithe 2010

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

le 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
Foilsithe 2012

Good laboratory practice for clinical next-generation sequencing informatics pipelines

le Gargis, Amy S, Kalman, Lisa, Bick, David P, da Silva, Cristina, Dimmock, David P, Funke, Birgit H, Gowrisankar, Sivakumar, Hegde, Madhuri R, Kulkarni, Shashikant, Mason, Christopher E, Nagarajan, Rakesh, Voelkerding, Karl V, Worthey, Elizabeth A, Aziz, Nazneen, Barnes, John, Bennett, Sarah F, Bisht, Himani, Church, Deanna M, Dimitrova, Zoya, Gargis, Shaw R, Hafez, Nabil, Hambuch, Tina, Hyland, Fiona C L, Ann Luna, Ruth, MacCannell, Duncan, Mann, Tobias, McCluskey, Megan R, McDaniel, Timothy K, Ganova-Raeva, Lilia M, Rehm, Heidi L, Reid, Jeffrey, Campo, David S, Resnick, Richard B, Ridge, Perry G, Salit, Marc L, Skums, Pavel, Wong, Lee-Jun C, Zehnbauer, Barbara A, Zook, Justin M, Lubin, Ira M
Foilsithe in Nat Biotechnol (2015)

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

le 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.
Foilsithe in J Clin Invest (2014)

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

le 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.
Foilsithe in J Clin Invest (2015)