Infantile-onset Spinal Muscular Atrophy with Respiratory Distress-1 diagnosed in twenty-year old man

Por Pierson, Tyler Mark, Tart, Gary, Adams, David, Toro, Camilo, Golas, Gretchen, Tifft, Cynthia, Gahl, William
Publicado em 2011

Interstitial Lung Disease and Pulmonary Fibrosis in Hermansky-Pudlak Syndrome Type 2, an Adaptor Protein-3 Complex Disease

Por Gochuico, Bernadette R, Huizing, Marjan, Golas, Gretchen A, Scher, Charles D, Tsokos, Maria, Denver, Stacey D, Frei-Jones, Melissa J, Gahl, William A
Publicado em 2011

A BLOC-1 Mutation Screen Reveals a Novel BLOC1S3 Mutation in Hermansky-Pudlak Syndrome Type 8 (HPS-8)

Por Cullinane, Andrew R, Curry, James A, Golas, Gretchen, Pan, James, Carmona-Rivera, Carmelo, Hess, Richard A, White, James G, Huizing, Marjan, Gahl, William A
Publicado em 2012

Hermansky-Pudlak Syndrome Type 1 in Patients of Indian Descent

Por Vincent, Lisa M., Adams, David, Hess, Richard A., Ziegler, Shira G., Tsilou, Ekaterini, Golas, Gretchen, O'Brien, Kevin J., White, James G., Huizing, Marjan, Gahl, William A.
Publicado em 2009

Clinical, molecular and cellular features of non-Puerto Rican Hermansky-Pudlak syndrome patients of Hispanic descent

Por Carmona-Rivera, Carmelo, Golas, Gretchen, Hess, Richard, Cardillo, Nicholas D., Martin, Elijah H., O’Brien, Kevin, Tsilou, Ekaterini, Gochuico, Bernadette R, White, James G., Huizing, Marjan, Gahl, William A.
Publicado em 2011

Clinical and cellular characterization of Hermansky-Pudlak syndrome type-6

Por Huizing, Marjan, Pederson, Ben, Hess, Richard A, Griffin, Ashley, Helip-Wooley, Amanda, Westbroek, Wendy, Dorward, Heidi, O’Brien, Kevin J, Golas, Gretchen, Tsilou, Ekaterini, White, James G, Gahl, William A
Publicado em 2009

Chediak-Higashi Syndrome with early Developmental Delay resulting from Paternal Heterodisomy of Chromosome 1

Por Manoli, Irini, Golas, Gretchen, Westbroek, Wendy, Vilboux, Thierry, Markello, Thomas C., Introne, Wendy, Maynard, Dawn, Pederson, Ben, Tsilou, Ekaterini, Jordan, Michael B., Hart, P. Suzanne, White, James G., Gahl, William A., Huizing, Marjan
Publicado em 2010

1,25-(OH)(2)D-24 Hydroxylase (CYP24A1) Deficiency as a Cause of Nephrolithiasis

Por Nesterova, Galina, Malicdan, May Christine, Yasuda, Kaori, Sakaki, Toshiyuki, Vilboux, Thierry, Ciccone, Carla, Horst, Ronald, Huang, Yan, Golas, Gretchen, Introne, Wendy, Huizing, Marjan, Adams, David, Boerkoel, Cornelius F., Collins, Michael T., Gahl, William A.
Publicado em 2013

Functional Analysis of a De Novo GRIN2A Missense Mutation Associated with Early-onset Epileptic Encephalopathy

Por Yuan, Hongjie, Hansen, Kasper B., Zhang, Jing, Pierson, Tyler Mark, Markello, Thomas C., Fuentes Fajardo, Karin V., Holloman, Conisha M., Golas, Gretchen, Adams, David R., Boerkoel, Cornelius F., Gahl, William A., Traynelis, Stephen F.
Publicado em 2014

Exome sequencing and SNP analysis detect novel compound heterozygosity in fatty acid hydroxylase-associated neurodegeneration

Por Pierson, Tyler Mark, Simeonov, Dimitre R, Sincan, Murat, Adams, David A, Markello, Thomas, Golas, Gretchen, Fuentes-Fajardo, Karin, Hansen, Nancy F, Cherukuri, Praveen F, Cruz, Pedro, Blackstone, Craig, Tifft, Cynthia, Boerkoel, Cornelius F, Gahl, William A
Publicado em 2012

Compound Heterozygosity for Loss-of-Function GARS Variants Results in a Multi-System Developmental Syndrome that Includes Severe Growth Retardation

Por Oprescu, Stephanie N., Chepa-Lotrea, Xenia, Takase, Ryuichi, Golas, Gretchen, Markello, Thomas C., Adams, David R., Toro, Camilo, Gropman, Andrea L., Hou, Ya-Ming, Malicdan, May Christine V., Gahl, William A., Tifft, Cynthia J., Antonellis, Anthony
Publicado no Hum Mutat (2017)

The Phenotype of the Musculocontractural Type of Ehlers-Danlos Syndrome due to CHST14 Mutations

Por Janecke, Andreas R., Li, Ben, Boehm, Manfred, Krabichler, Birgit, Rohrbach, Marianne, Müller, Thomas, Fuchs, Irene, Golas, Gretchen, Katagiri, Yasuhiro, Ziegler, Shira G., Gahl, William A., Wilnai, Yael, Zoppi, Nicoletta, Geller, Herbert M., Giunta, Cecilia, Slavotinek, Anne, Steinmann, Beat
Publicado no Am J Med Genet A (2015)

The implications of familial incidental findings from exome sequencing: The NIH Undiagnosed Diseases Program experience

Por Lawrence, Lauren, Sincan, Murat, Markello, Thomas, Adams, David R, Gill, Fred, Godfrey, Rena, Golas, Gretchen, Groden, Catherine, Landis, Dennis, Nehrebecky, Michele, Park, Grace, Soldatos, Ariane, Tifft, Cynthia, Toro, Camilo, Wahl, Colleen, Wolfe, Lynne, Gahl, William A., Boerkoel, Cornelius F.
Publicado em 2014

A novel AVPR2 splice site mutation leads to partial X-linked nephrogenic diabetes insipidus in two brothers

Por Schernthaner-Reiter, Marie Helene, Adams, David, Trivellin, Giampaolo, Ramnitz, Mary Scott, Raygada, Margarita, Golas, Gretchen, Faucz, Fabio Rueda, Nilsson, Lars Ola, Nella, Aikaterini A., Dileepan, Kavitha, Lodish, Maya, Lee, Paul, Tifft, Cynthia, Markello, Thomas, Gahl, William, Stratakis, Constantine A.
Publicado no Eur J Pediatr (2016)

MED23-associated Intellectual Disability in a Non-consanguineous Family

Por Trehan, Aditi, Brady, Jacqueline M., Maduro, Valerie, Bone, William, Huang, Yan, Golas, Gretchen A., Kane, Megan, Lee, Paul R., Thurm, Audrey, Gropman, Andrea L., Paul, Scott M., Vezina, Gilbert, Markello, Thomas C., Gahl, William A., Boerkoel, Cornelius F., Tifft, Cynthia J.
Publicado no Am J Med Genet A (2015)

Exome sequencing as a diagnostic tool in a case of undiagnosed juvenile-onset GM(1)-gangliosidosis

Por Mark Pierson, Tyler, Adams, David A., Markello, Thomas, Golas, Gretchen, Yang, Sandra, Sincan, Murat, Simeonov, Dimitre R., Fuentes Fajardo, Karin, Hansen, Nancy F., Cherukuri, Praveen F., Cruz, Pedro, Teer, Jamie K., Mullikin, James C., Boerkoel, Cornelius F., Gahl, William A., Tifft, Cynthia J.
Publicado em 2012

Neurologic involvement in patients with atypical Chediak-Higashi disease

Por Introne, Wendy J., Westbroek, Wendy, Cullinane, Andrew R., Groden, Catherine A., Bhambhani, Vikas, Golas, Gretchen A., Baker, Eva H., Lehky, Tanya J., Snow, Joseph, Ziegler, Shira G., Adams, David R., Dorward, Heidi M., Hess, Richard A., Huizing, Marjan, Gahl, William A., Toro, Camilo
Publicado no Neurology (2016)

Neurologic involvement in patients with atypical Chediak-Higashi disease

Por Introne, Wendy J., Westbroek, Wendy, Groden, Catherine A., Bhambhani, Vikas, Golas, Gretchen A., Baker, Eva H., Lehky, Tanya J., Snow, Joseph, Ziegler, Shira G., Malicdan, May Christine V., Adams, David R., Dorward, Heidi M., Hess, Richard A., Huizing, Marjan, Gahl, William A., Toro, Camilo
Publicado no Neurology (2017)

GRIN2A mutation and early-onset epileptic encephalopathy: personalized therapy with memantine

Por Pierson, Tyler Mark, Yuan, Hongjie, Marsh, Eric D, Fuentes-Fajardo, Karin, Adams, David R, Markello, Thomas, Golas, Gretchen, Simeonov, Dimitre R, Holloman, Conisha, Tankovic, Anel, Karamchandani, Manish M, Schreiber, John M, Mullikin, James C, Tifft, Cynthia J, Toro, Camilo, Boerkoel, Cornelius F, Traynelis, Stephen F, Gahl, William A
Publicado em 2014

Abnormal glycosylation in Joubert syndrome type 10

Por Kane, Megan S., Davids, Mariska, Bond, Michelle R., Adams, Christopher J., Grout, Megan E., Phelps, Ian G., O’Day, Diana R., Dempsey, Jennifer C., Li, Xeuli, Golas, Gretchen, Vezina, Gilbert, Gunay-Aygun, Meral, Hanover, John A., Doherty, Dan, He, Miao, Malicdan, May Christine V., Gahl, William A., Boerkoel, Cornelius F.
Publicado no Cilia (2017)