Pregnancy in Autosomal Recessive Polycystic Kidney Disease

door Banks, Nicole, Bryant, Joy, Fischer, Roxanne, Huizing, Marjan, Gahl, William A., Gunay-Aygun, Meral
Gepubliceerd in Arch Gynecol Obstet (2014)

Fibrocystic Disease of Liver and Pancreas; Under-recognized features of the X-linked Ciliopathy Oral-Facial-Digital Syndrome Type 1 (OFD1)

door Chetty-John, Shilpa, Piwnica-Worms, Katie, Bryant, Joy, Bernardini, Isa, Fischer, Roxanne E, Heller, Theo, Gahl, William A, Gunay-Aygun, Meral
Gepubliceerd in 2010

Mutation spectrum of homogentisic acid oxidase (HGD) in alkaptonuria

door Vilboux, Thierry, Kayser, Michael, Introne, Wendy, Suwannarat, Pim, Bernardini, Isa, Fischer, Roxanne, O’Brien, Kevin, Kleta, Robert, Huizing, Marjan, Gahl, William A.
Gepubliceerd in 2009

Circulating Fibrocytes as Biomarker of Prognosis in Hermansky-Pudlak Syndrome

door Trimble, Aaron, Gochuico, Bernadette R., Markello, Thomas C., Fischer, Roxanne, Gahl, William A., Lee, Jae K., Kim, Youngchul, Burdick, Marie D., Strieter, Robert M., Mehrad, Borna
Gepubliceerd in Am J Respir Crit Care Med (2014)

Hermansky-Pudlak Syndrome: Mutation Update

door Huizing, Marjan, Malicdan, May Christine V., Wang, Jennifer A., Pri-Chen, Hadass, Hess, Richard A., Fischer, Roxanne, O’Brien, Kevin J., Merideth, Melissa A., Gahl, William A., Gochuico, Bernadette R.
Gepubliceerd in Hum Mutat (2020)

CELSR2, Encoding a Planar Cell Polarity Protein, Is a Putative Gene in Joubert Syndrome with Cortical Heterotopia, Microophthalmia, and Growth Hormone Deficiency

door Vilboux, Thierry, Malicdan, May Christine V., Roney, Joseph C., Cullinane, Andrew R., Stephen, Joshi, Yildirimli, Deniz, Bryant, Joy, Fischer, Roxanne, Vemulapalli, Meghana, Mullikin, James C., Steinbach, Peter J., Gahl, William A., Gunay-Aygun, Meral
Gepubliceerd in Am J Med Genet A (2017)

PKHD1 Sequence Variations in 78 Children and Adults with Autosomal Recessive Polycystic Kidney Disease and Congenital Hepatic Fibrosis

door Gunay-Aygun, Meral, Tuchman, Maya, Font-Montgomery, Esperanza, Lukose, Linda, Edwards, Hailey, Garcia, Angelica, Ausavarat, Surasawadee, Ziegler, Shira G., Piwnica-Worms, Katie, Bryant, Joy, Bernardini, Isa, Fischer, Roxanne, Huizing, Marjan, Guay-Woodford, Lisa, Gahl, William A.
Gepubliceerd in 2009

Mutations in KIAA0753 cause Joubert syndrome associated with growth hormone deficiency

door Stephen, Joshi, Vilboux, Thierry, Mian, Luhe, Kuptanon, Chulaluck, Sinclair, Courtney M., Yildirimli, Deniz, Maynard, Dawn M., Bryant, Joy, Fischer, Roxanne, Vemulapalli, Meghana, Mullikin, James C., Huizing, Marjan, Gahl, William A., Malicdan, May Christine V., Gunay-Aygun, Meral
Gepubliceerd in Hum Genet (2017)

Exome analysis of Smith–Magenis-like syndrome cohort identifies de novo likely pathogenic variants

door Berger, Seth I., Ciccone, Carla, Simon, Karen L., Malicdan, May Christine, Vilboux, Thierry, Billington, Charles, Fischer, Roxanne, Introne, Wendy J., Gropman, Andrea, Blancato, Jan K., Mullikin, James C., Gahl, William A., Huizing, Marjan, Smith, Ann C. M.
Gepubliceerd in Hum Genet (2017)

DNA Variations in Oculocutaneous Albinism: An Updated Mutation List and Current Outstanding Issues in Molecular Diagnostics

door Simeonov, Dimitre R., Wang, Xinjing, Wang, Chen, Sergeev, Yuri, Dolinska, Monika, Bower, Matthew, Fischer, Roxanne, Winer, David, Dubrovsky, Genia, Balog, Joan Z., Huizing, Marjan, Hart, Rachel, Zein, Wadih M., Gahl, William A., Brooks, Brian P., Adams, David R.
Gepubliceerd in 2013

Prospective Evaluation of Kidney Disease in Joubert Syndrome

door Fleming, Leah R., Doherty, Daniel A., Parisi, Melissa A., Glass, Ian A., Bryant, Joy, Fischer, Roxanne, Turkbey, Baris, Choyke, Peter, Daryanani, Kailash, Vemulapalli, Meghana, Mullikin, James C., Malicdan, May Christine, Vilboux, Thierry, Sayer, John A., Gahl, William A., Gunay-Aygun, Meral
Gepubliceerd in Clin J Am Soc Nephrol (2017)

Mutations in human homologue of chicken talpid3 gene (KIAA0586) cause a hybrid ciliopathy with overlapping features of Jeune and Joubert syndromes

door Malicdan, May Christine V, Vilboux, Thierry, Stephen, Joshi, Maglic, Dino, Mian, Luhe, Konzman, Daniel, Guo, Jennifer, Yildirimli, Deniz, Bryant, Joy, Fischer, Roxanne, Zein, Wadih M, Snow, Joseph, Vemulapalli, Meghana, Mullikin, James C, Toro, Camilo, Solomon, Benjamin D, Niederhuber, John E, Gahl, William A, Gunay-Aygun, Meral
Gepubliceerd in J Med Genet (2015)

Characteristics of Congenital Hepatic Fibrosis in a Large Cohort of Patients With Autosomal Recessive Polycystic Kidney Disease

door Gunay–Aygun, Meral, Font–Montgomery, Esperanza, Lukose, Linda, Gerstein, Maya Tuchman, Piwnica–Worms, Katie, Choyke, Peter, Daryanani, Kailash T., Turkbey, Baris, Fischer, Roxanne, Bernardini, Isa, Sincan, Murat, Zhao, Xiongce, Sandler, Netanya G., Roque, Annelys, Douek, Daniel C., Graf, Jennifer, Huizing, Marjan, Bryant, Joy C., Mohan, Parvathi, Gahl, William A., Heller, Theo
Gepubliceerd in 2012

York platelet syndrome is a CRAC channelopathy due to gain-of-function mutations in STIM1

door Markello, Thomas, Chen, Dong, Kwan, Justin Y., Horkayne-Szakaly, Iren, Morrison, Alan, Simakova, Olga, Maric, Irina, Lozier, Jay, Cullinane, Andrew R., Kilo, Tatjana, Meister, Lynn, Pakzad, Kourosh, Bone, William, Chainani, Sanjay, Lee, Elizabeth, Links, Amanda, Boerkoel, Cornelius, Fischer, Roxanne, Toro, Camilo, White, James G., Gahl, William A, Gunay-Aygun, Meral
Gepubliceerd in Mol Genet Metab (2014)

Correlation of Kidney Function, Volume and Imaging Findings, and PKHD1 Mutations in 73 Patients with Autosomal Recessive Polycystic Kidney Disease

door Gunay-Aygun, Meral, Font-Montgomery, Esperanza, Lukose, Linda, Tuchman, Maya, Graf, Jennifer, Bryant, Joy C., Kleta, Robert, Garcia, Angelica, Edwards, Hailey, Piwnica-Worms, Katie, Adams, David, Bernardini, Isa, Fischer, Roxanne E., Krasnewich, Donna, Oden, Neal, Ling, Alex, Quezado, Zenaide, Zak, Colleen, Daryanani, Kailash T., Turkbey, Baris, Choyke, Peter, Guay-Woodford, Lisa M., Gahl, William A.
Gepubliceerd in 2010

Defining Disease, Diagnosis, and Translational Medicine within a Homeostatic Perturbation Paradigm: The National Institutes of Health Undiagnosed Diseases Program Experience

door Gall, Timothy, Valkanas, Elise, Bello, Christofer, Markello, Thomas, Adams, Christopher, Bone, William P., Brandt, Alexander J., Brazill, Jennifer M., Carmichael, Lynn, Davids, Mariska, Davis, Joie, Diaz-Perez, Zoraida, Draper, David, Elson, Jeremy, Flynn, Elise D., Godfrey, Rena, Groden, Catherine, Hsieh, Cheng-Kang, Fischer, Roxanne, Golas, Gretchen A., Guzman, Jessica, Huang, Yan, Kane, Megan S., Lee, Elizabeth, Li, Chong, Links, Amanda E., Maduro, Valerie, Malicdan, May Christine V., Malik, Fayeza S., Nehrebecky, Michele, Park, Joun, Pemberton, Paul, Schaffer, Katherine, Simeonov, Dimitre, Sincan, Murat, Smedley, Damian, Valivullah, Zaheer, Wahl, Colleen, Washington, Nicole, Wolfe, Lynne A., Xu, Karen, Zhu, Yi, Gahl, William A., Tifft, Cynthia J., Toro, Camillo, Adams, David R., He, Miao, Robinson, Peter N., Haendel, Melissa A., Zhai, R. Grace, Boerkoel, Cornelius F.
Gepubliceerd in Front Med (Lausanne) (2017)