Works by William A. Gahl

Results: 196

Hereditary inclusion body myopathy: single patient response to GNE gene Lipoplex therapy.

Published in:

Journal of Gene Medicine, 2010, v. 12, n. 5, p. 403, doi. 10.1002/jgm.1450

By:

Nemunaitis, Gregory;
Maples, Phillip B.;
Jay, Chris;
Gahl, William A.;
Huizing, Marjan;
Poling, Justin;
Tong, Alex W.;
Phadke, Anagha P.;
Pappen, Beena O.;
Bedell, Cynthia;
Templeton, Nancy S.;
Kuhn, Joseph;
Senzer, Neil;
Nemunaitis, John

Publication type:

Article

Hermansky–Pudlak syndrome: Mutation update.

Published in:

Human Mutation, 2020, v. 41, n. 3, p. 543, doi. 10.1002/humu.23968

By:

Huizing, Marjan;
Malicdan, May C. 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.

Publication type:

Article

SLC35A2‐CDG: Functional characterization, expanded molecular, clinical, and biochemical phenotypes of 30 unreported Individuals.

Published in:

Human Mutation, 2019, v. 40, n. 7, p. 908, doi. 10.1002/humu.23731

By:

Ng, Bobby G.;
Sosicka, Paulina;
Agadi, Satish;
Almannai, Mohammed;
Bacino, Carlos A.;
Barone, Rita;
Botto, Lorenzo D.;
Burton, Jennifer E.;
Carlston, Colleen;
Chung, Brian Hon‐Yin;
Cohen, Julie S.;
Coman, David;
Dipple, Katrina M.;
Dorrani, Naghmeh;
Dobyns, William B.;
Elias, Abdallah F.;
Epstein, Leon;
Gahl, William A.;
Garozzo, Domenico;
Hammer, Trine Bjørg

Publication type:

Article

Early infantile‐onset epileptic encephalopathy 28 due to a homozygous microdeletion involving the WWOX gene in a region of uniparental disomy.

Published in:

Human Mutation, 2019, v. 40, n. 1, p. 42, doi. 10.1002/humu.23675

By:

Davids, Mariska;
Markello, Thomas;
Wolfe, Lynne A.;
Chepa‐Lotrea, Xenia;
Tifft, Cynthia J.;
Gahl, William A.;
Malicdan, May Christine V.

Publication type:

Article

A disease-associated mutation in the adhesion GPCR BAI2 ( ADGRB2) increases receptor signaling activity.

Published in:

Human Mutation, 2017, v. 38, n. 12, p. 1751, doi. 10.1002/humu.23336

By:

Purcell, Ryan H.;
Toro, Camilo;
Gahl, William A.;
Hall, Randy A.

Publication type:

Article

Compound heterozygosity for loss-of-function GARS variants results in a multisystem developmental syndrome that includes severe growth retardation.

Published in:

Human Mutation, 2017, v. 38, n. 10, p. 1412, doi. 10.1002/humu.23287

By:

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

Publication type:

Article

Cover Image, Volume 38, Issue 10.

Published in:

Human Mutation, 2017, v. 38, n. 10, p. i, doi. 10.1002/humu.23317

By:

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

Publication type:

Article

TMEM231 Gene Conversion Associated with Joubert and Meckel-Gruber Syndromes in the Same Family.

Published in:

Human Mutation, 2016, v. 37, n. 11, p. 1144, doi. 10.1002/humu.23054

By:

Maglic, Dino;
Stephen, Joshi;
Malicdan, May Christine V.;
Guo, Jennifer;
Fischer, Roxanne;
Konzman, Daniel;
Mullikin, James C.;
Gahl, William A.;
Vilboux, Thierry;
Gunay‐Aygun, Meral

Publication type:

Article

PhenomeCentral: A Portal for Phenotypic and Genotypic Matchmaking of Patients with Rare Genetic Diseases.

Published in:

Human Mutation, 2015, v. 36, n. 10, p. 931, doi. 10.1002/humu.22851

By:

Buske, Orion J.;
Girdea, Marta;
Dumitriu, Sergiu;
Gallinger, Bailey;
Hartley, Taila;
Trang, Heather;
Misyura, Andriy;
Friedman, Tal;
Beaulieu, Chandree;
Bone, William P.;
Links, Amanda E.;
Washington, Nicole L.;
Haendel, Melissa A.;
Robinson, Peter N.;
Boerkoel, Cornelius F.;
Adams, David;
Gahl, William A.;
Boycott, Kym M.;
Brudno, Michael

Publication type:

Article

Mutation Update for GNE Gene Variants Associated with GNE Myopathy.

Published in:

Human Mutation, 2014, v. 35, n. 8, p. 915, doi. 10.1002/humu.22583

By:

Celeste, Frank V.;
Vilboux, Thierry;
Ciccone, Carla;
Dios, John Karl;
Malicdan, May Christine V.;
Leoyklang, Petcharat;
McKew, John C.;
Gahl, William A.;
Carrillo‐Carrasco, Nuria;
Huizing, Marjan

Publication type:

Article

Analysis of LMNB1 Duplications in Autosomal Dominant Leukodystrophy Provides Insights into Duplication Mechanisms and Allele-Specific Expression.

Published in:

Human Mutation, 2014, v. 35, n. 1, p. 149, doi. 10.1002/humu.22466

By:

Giorgio, Elisa;
Rolyan, Harshvardhan;
Kropp, Laura;
Chakka, Anish Baswanth;
Yatsenko, Svetlana;
Gregorio, Eleonora Di;
Lacerenza, Daniela;
Vaula, Giovanna;
Talarico, Flavia;
Mandich, Paola;
Toro, Camilo;
Pierre, Eleonore Eymard;
Labauge, Pierre;
Capellari, Sabina;
Cortelli, Pietro;
Vairo, Filippo Pinto;
Miguel, Diego;
Stubbolo, Danielle;
Marques, Lourenco Charles;
Gahl, William

Publication type:

Article

Analysis of LMNB1 Duplications in Autosomal Dominant Leukodystrophy Provides Insights into Duplication Mechanisms and Allele-Specific Expression.

Published in:

Human Mutation, 2013, v. 34, n. 8, p. 1160, doi. 10.1002/humu.22348

By:

Giorgio, Elisa;
Rolyan, Harshvardhan;
Kropp, Laura;
Chakka, Anish Baswanth;
Yatsenko, Svetlana;
Gregorio, Eleonora Di;
Lacerenza, Daniela;
Vaula, Giovanna;
Talarico, Flavia;
Mandich, Paola;
Toro, Camilo;
Pierre, Eleonore Eymard;
Labauge, Pierre;
Capellari, Sabina;
Cortelli, Pietro;
Vairo, Filippo Pinto;
Miguel, Diego;
Stubbolo, Danielle;
Marques, Lourenco Charles;
Gahl, William

Publication type:

Article

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

Published in:

Human Mutation, 2013, v. 34, n. 6, p. 827, doi. 10.1002/humu.22315

By:

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.

Publication type:

Article

Detecting false-positive signals in exome sequencing.

Published in:

Human Mutation, 2012, v. 33, n. 4, p. 609, doi. 10.1002/humu.22033

By:

Fuentes Fajardo, Karin V.;
Adams, David;
Mason, Christopher E.;
Sincan, Murat;
Tifft, Cynthia;
Toro, Camilo;
Boerkoel, Cornelius F;
Gahl, William;
Markello, Thomas

Publication type:

Article

Analysis of DNA sequence variants detected by high-throughput sequencing.

Published in:

Human Mutation, 2012, v. 33, n. 4, p. 599, doi. 10.1002/humu.22035

By:

Adams, David R.;
Sincan, Murat;
Fuentes Fajardo, Karin;
Mullikin, James C.;
Pierson, Tyler M.;
Toro, Camilo;
Boerkoel, Cornelius F.;
Tifft, Cynthia J.;
Gahl, William A.;
Markello, Tom C.

Publication type:

Article

An analysis of exome sequencing for diagnostic testing of the genes associated with muscle disease and spastic paraplegia.

Published in:

Human Mutation, 2012, v. 33, n. 4, p. 614, doi. 10.1002/humu.22032

By:

Dias, Cristina;
Sincan, Murat;
Cherukuri, Praveen F.;
Rupps, Rosemarie;
Huang, Yan;
Briemberg, Hannah;
Selby, Kathryn;
Mullikin, James C.;
Markello, Thomas C.;
Adams, David R.;
Gahl, William A.;
Boerkoel, Cornelius F.

Publication type:

Article

VAR-MD: A tool to analyze whole exome-genome variants in small human pedigrees with mendelian inheritance.

Published in:

Human Mutation, 2012, v. 33, n. 4, p. 593, doi. 10.1002/humu.22034

By:

Sincan, Murat;
Simeonov, Dimitre R;
Adams, David;
Markello, Thomas C.;
Pierson, Tyler M.;
Toro, Camilo;
Gahl, William A.;
Boerkoel, Cornelius F.

Publication type:

Article

Mutation spectrum of homogentisic acid oxidase ( HGD) in alkaptonuria.

Published in:

2009

By:

Vilboux, Thierry;
Kayser, Michael;
Introne, Wendy;
Suwannarat, Pim;
Bernardini, Isa;
Fischer, Roxanne;
O'Brien, Kevin;
Kleta, Robert;
Huizing, Marjan;
Gahl, William A.

Publication type:

Other

Heterozygous nonsense mutation SATB2 associated with cleft palate, osteoporosis, and cognitive defects.

Published in:

Human Mutation, 2007, v. 28, n. 7, p. 732, doi. 10.1002/humu.20515

By:

Leoyklang, Petcharat;
Suphapeetiporn, Kanya;
Siriwan, Pichit;
Desudchit, Tayard;
Chaowanapanja, Pattraporn;
Gahl, William A;
Shotelersuk, Vorasuk

Publication type:

Article

Hermansky-Pudlak syndrome type 1: gene organization, novel mutations, and clinical-molecular review of non-Puerto Rican cases.

Published in:

Human Mutation, 2002, v. 20, n. 6, p. 482, doi. 10.1002/humu.9097

By:

Hermos, Christina R.;
Huizing, Marjan;
Kaiser-Kupfer, Muriel I.;
Gahl, William A.

Publication type:

Article

NPC1 Deficiency in Mice is Associated with Fetal Growth Restriction, Neonatal Lethality and Abnormal Lung Pathology.

Published in:

Journal of Clinical Medicine, 2020, v. 9, n. 1, p. 12, doi. 10.3390/jcm9010012

By:

Rodriguez-Gil, Jorge L.;
Watkins-Chow, Dawn E.;
Baxter, Laura L.;
Yokoyama, Tadafumi;
Zerfas, Patricia M.;
Starost, Matthew F.;
Gahl, William A.;
Malicdan, May Christine V.;
Porter, Forbes D.;
Platt, Frances M.;
Pavan, William J.

Publication type:

Article

Clinical and Histopathologic Features of Interstitial Lung Disease in Erdheim–Chester Disease.

Published in:

Journal of Clinical Medicine, 2018, v. 7, n. 9, p. 243, doi. 10.3390/jcm7090243

By:

Haroutunian, Sara G.;
O’Brien, Kevin J.;
Estrada-Veras, Juvianee I.;
Yao, Jianhua;
Boyd, Louisa C.;
Mathur, Kavya;
Gahl, William A.;
Mirmomen, S. Mojdeh;
Malayeri, Ashkan A.;
Kleiner, David E.;
Jaffe, Elaine S.;
Gochuico, Bernadette R.

Publication type:

Article

Neurological manifestations of Erdheim–Chester Disease.

Published in:

Annals of Clinical & Translational Neurology, 2020, v. 7, n. 4, p. 497, doi. 10.1002/acn3.51014

By:

Boyd, Louisa C.;
O'Brien, Kevin J.;
Ozkaya, Neval;
Lehky, Tanya;
Meoded, Avner;
Gochuico, Bernadette R.;
Hannah‐Shmouni, Fady;
Nath, Avindra;
Toro, Camilo;
Gahl, William A.;
Estrada‐Veras, Juvianee I.;
Dave, Rahul H.

Publication type:

Article

Novel pathogenic COX20 variants causing dysarthria, ataxia, and sensory neuropathy.

Published in:

Annals of Clinical & Translational Neurology, 2019, v. 6, n. 1, p. 154, doi. 10.1002/acn3.661

By:

Otero, Maria G.;
Tiongson, Emmanuelle;
Diaz, Frank;
Haude, Katrina;
Panzer, Karin;
Collier, Ashley;
Kim, Jaemin;
Adams, David;
Tifft, Cynthia J.;
Cui, Hong;
Millian Zamora, Francisca;
Au, Margaret G.;
Graham, John M.;
Buckley, David J.;
Lewis, Richard;
Toro, Camilo;
Bai, Renkui;
Turner, Lesley;
Mathews, Katherine D.;
Gahl, William

Publication type:

Article

Biallelic SCN10A mutations in neuromuscular disease and epileptic encephalopathy.

Published in:

Annals of Clinical & Translational Neurology, 2017, v. 4, n. 1, p. 26, doi. 10.1002/acn3.372

By:

Kambouris, Marios;
Thevenon, Julien;
Soldatos, Ariane;
Cox, Allison;
Stephen, Joshi;
Ben‐Omran, Tawfeg;
Al‐Sarraj, Yasser;
Boulos, Hala;
Bone, William;
Mullikin, James C.;
Masurel‐Paulet, Alice;
St‐Onge, Judith;
Dufford, Yannis;
Chantegret, Corrine;
Thauvin‐Robinet, Christel;
Al‐Alami, Jamil;
Faivre, Laurence;
Riviere, Jean Baptiste;
Gahl, William A.;
Bassuk, Alexander G.

Publication type:

Article

Lysosomal abnormalities in hereditary spastic paraplegia types SPG15 and SPG11.

Published in:

Annals of Clinical & Translational Neurology, 2014, v. 1, n. 6, p. 379, doi. 10.1002/acn3.64

By:

Renvoisé, Benoît;
Chang, Jaerak;
Singh, Rajat;
Yonekawa, Sayuri;
FitzGibbon, Edmond J.;
Mankodi, Ami;
Vanderver, Adeline;
Schindler, Alice B.;
Toro, Camilo;
Gahl, William A.;
Mahuran, Don J.;
Blackstone, Craig;
Pierson, Tyler Mark

Publication type:

Article

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

Published in:

2016

By:

Schernthaner-Reiter, Marie;
Adams, David;
Trivellin, Giampaolo;
Ramnitz, Mary;
Raygada, Margarita;
Golas, Gretchen;
Faucz, Fabio;
Nilsson, Ola;
Nella, Aikaterini;
Dileepan, Kavitha;
Lodish, Maya;
Lee, Paul;
Tifft, Cynthia;
Markello, Thomas;
Gahl, William;
Stratakis, Constantine;
Schernthaner-Reiter, Marie Helene;
Ramnitz, Mary Scott;
Faucz, Fabio R;
Nella, Aikaterini A

Publication type:

journal article

Pilot study to evaluate the safety and effectiveness of etidronate treatment for arterial calcification due to deficiency of CD73 (ACDC).

Published in:

Vascular Medicine, 2024, v. 29, n. 3, p. 245, doi. 10.1177/1358863X241235669

By:

Ferrante, Elisa A;
Cudrici, Cornelia D;
Rashidi, Mahmood;
Fu, Yi-Ping;
Huffstutler, Rebecca;
Carney, Katherine;
Chen, Marcus Y;
St Hilaire, Cynthia;
Smith, Kevin;
Bagheri, Hadi;
Katz, James D;
Ferreira, Carlos R;
Gahl, William A;
Boehm, Manfred;
Brofferio, Alessandra

Publication type:

Article

Clinical management and outcomes of patients with Hermansky-Pudlak syndrome pulmonary fibrosis evaluated for lung transplantation.

Published in:

PLoS ONE, 2018, v. 13, n. 3, p. 1, doi. 10.1371/journal.pone.0194193

By:

El-Chemaly, Souheil;
O’Brien, Kevin J.;
Nathan, Steven D.;
Weinhouse, Gerald L.;
Goldberg, Hilary J.;
Connors, Jean M.;
Cui, Ye;
Astor, Todd L.;
Jr.Camp, Philip C.;
Rosas, Ivan O.;
Lemma, Merte;
Speransky, Vladislav;
Merideth, Melissa A.;
Gahl, William A.;
Gochuico, Bernadette R.

Publication type:

Article

Explorations to improve the completeness of exome sequencing.

Published in:

BMC Medical Genomics, 2016, v. 9, p. 1, doi. 10.1186/s12920-016-0216-3

By:

Chen Du;
Pusey, Barbara N.;
Adams, Christopher J.;
Lau, C. Christopher;
Bone, William P.;
Gahl, William A.;
Markello, Thomas C.;
Adams, David R.

Publication type:

Article

CTNS molecular genetics profile in a Persian nephropathic cystinosis population.

Published in:

Nefrologia, 2017, v. 37, n. 3, p. 301, doi. 10.1016/j.nefro.2016.11.024

By:

Ghazi, Farideh;
Hosseini, Rozita;
Akouchekian, Mansoureh;
Teimourian, Shahram;
Ataei Kachoei, Zohreh;
Otukesh, Hassan;
Gahl, William A.;
Behnam, Babak

Publication type:

Article

Important Role of Translational Science in Rare Disease Innovation, Discovery, and Drug Development.

Published in:

JGIM: Journal of General Internal Medicine, 2014, v. 29, p. 804, doi. 10.1007/s11606-014-2881-2

By:

Pariser, Anne;
Gahl, William

Publication type:

Article

Hermansky-Pudlak syndrome and oculocutaneous albinism in Chinese children with pigmentation defects and easy bruising.

Published in:

2019

By:

Power, Bradley;
Ferreira, Carlos R.;
Chen, Dong;
Zein, Wadih M.;
O'Brien, Kevin J.;
Introne, Wendy J.;
Stephen, Joshi;
Gahl, William A.;
Huizing, Marjan;
Malicdan, May Christine V.;
Adams, David R.;
Gochuico, Bernadette R.

Publication type:

journal article

Mutation of a new gene causes a unique form of Hermansky?Pudlak syndrome in a genetic isolate of central Puerto Rico.

Published in:

Nature Genetics, 2001, v. 28, n. 4, p. 376, doi. 10.1038/ng576

By:

Anikster, Yair;
Huizing, Marjan;
White, James;
Shevchenko, Yuriy O.;
Fitzpatrick, Diana L.;
Touchman, Jeffrey W.;
Compton, John G.;
Bale, Sherri J.;
Swank, Richard T.;
Gahl, William A.;
Toro, Jorge R.

Publication type:

Article

Bleomycin Induces Drug Efflux in Lungs: A Pitfall for Pharmacological Studies of Pulmonary Fibrosis.

Published in:

American Journal of Respiratory Cell & Molecular Biology, 2020, v. 62, n. 2, p. 178, doi. 10.1165/rcmb.2018-0147OC

By:

Park, Joshua K.;
Coffey, Nathan J.;
Bodine, Steven P.;
Zawatsky, Charles N.;
Jay, Lindsey;
Gahl, William A.;
Kunos, George;
Gochuico, Bernadette R.;
Malicdan, May Christine V.;
Cinar, Resat

Publication type:

Article

Dysregulation of Galectin-3.

Published in:

American Journal of Respiratory Cell & Molecular Biology, 2014, v. 50, n. 3, p. 605, doi. 10.1165/rcmb.2013-0025OC

By:

Cullinane, Andrew R.;
Yeager, Caroline;
Dorward, Heidi;
Carmona-Rivera, Carmelo;
Hai Ping Wu;
Moss, Joel;
O'Brien, Kevin J.;
Nathan, Steven D.;
Meyer, Keith C.;
Rosas, Ivan O.;
Helip-Wooley, Amanda;
Marjan Huizing;
Gahl, William A.;
Gochuico, Bernadette R.

Publication type:

Article

Prevalence of Hypothyroidism in Patients With Erdheim-Chester Disease.

Published in:

JAMA Network Open, 2020, v. 3, n. 10, p. e2019169, doi. 10.1001/jamanetworkopen.2020.19169

By:

Shekhar, Skand;
Sinaii, Ninet;
Irizarry-Caro, Jorge A.;
Gahl, William A;
Estrada-Veras, Juvianee I.;
Dave, Rahul;
Papadakis, Georgios Z.;
Tirosh, Amit;
Abel, Brent S.;
Klubo-Gwiezdzinska, Joanna;
Skarulis, Monica C.;
Gochuico, Bernadette R.;
O'Brien, Kevin;
Hannah-Shmouni, Fady

Publication type:

Article

Increased activity of TNAP compensates for reduced adenosine production and promotes ectopic calcification in the genetic disease ACDC.

Published in:

Science Signaling, 2016, v. 9, n. 458, p. 1, doi. 10.1126/scisignal.aaf9109

By:

Hui Jin;
Hilaire, Cynthia St.;
Yuting Huang;
Dan Yang;
Dmitrieva, Natalia I.;
Negro, Alejandra;
Schwartzbeck, Robin;
Yangtengyu Liu;
Zhen Yu;
Walts, Avram;
Davaine, Jean-Michel;
Lee, Duck-Yeon;
Donahue, Danielle;
Hsu, Kevin S.;
Chen, Jessica;
Tao Cheng;
Gahl, William;
Guibin Chen;
Boehm, Manfred

Publication type:

Article

Cysteamine Suppresses Invasion, Metastasis and Prolongs Survival by Inhibiting Matrix Metalloproteinases in a Mouse Model of Human Pancreatic Cancer.

Published in:

PLoS ONE, 2012, v. 7, n. 4, p. 1, doi. 10.1371/journal.pone.0034437

By:

Fujisawa, Toshio;
Rubin, Benjamin;
Suzuki, Akiko;
Patel, Prabhudas S.;
Gahl, William A.;
Joshi, Bharat H.;
Puri, Raj K.

Publication type:

Article

Molecular Analysis of the Retinoic Acid Induced 1 Gene (RAI1) in Patients with Suspected Smith-Magenis Syndrome without the 17p11.2 Deletion.

Published in:

PLoS ONE, 2011, v. 6, n. 8, p. 1, doi. 10.1371/journal.pone.0022861

By:

Vilboux, Thierry;
Ciccone, Carla;
Blancato, Jan K.;
Cox, Gerald F.;
Deshpande, Charu;
Introne, Wendy J.;
Gahl, William A.;
Smith, Ann C. M.;
Huizing, Marjan

Publication type:

Article

Late diagnosis and atypical brain imaging of Aicardi-Goutières syndrome: are we failing to diagnose Aicardi-Goutières syndrome-2?

Published in:

Developmental Medicine & Child Neurology, 2017, v. 59, n. 12, p. 1307, doi. 10.1111/dmcn.13509

By:

Svingen, Leah;
Goheen, Mitchell;
Godfrey, Rena;
Wahl, Colleen;
Baker, Eva H;
Gahl, William A;
Malicdan, May Christine V;
Toro, Camilo

Publication type:

Article

Late diagnosis and atypical brain imaging of Aicardi-Goutières syndrome: are we failing to diagnose Aicardi-Goutières syndrome-2?

Published in:

2017

By:

Svingen, Leah;
Goheen, Mitchell;
Godfrey, Rena;
Wahl, Colleen;
Baker, Eva H;
Gahl, William A;
Malicdan, May Christine V;
Toro, Camilo

Publication type:

Case Study

Allele-specific silencing of the dominant disease allele in sialuria by RNA interference.

Published in:

FASEB Journal, 2008, v. 22, n. 11, p. 3846, doi. 10.1096/fj.08-110890

By:

Klootwijk, Riko D.;
Savelkoul, Paul J. M.;
Ciccone, Carla;
Manoli, Irini;
Caplen, Natasha J.;
Krasnewich, Donna M.;
Gahl, William A.;
Huizing, Marjan

Publication type:

Article

Correction: yippee like 3 (ypel3) is a novel gene required for myelinating and perineurial glia development.

Published in:

2020

By:

Blanco-Sánchez, Bernardo;
Clément, Aurélie;
Stednitz, Sarah J.;
Kyle, Jennifer;
Peirce, Judy L.;
McFadden, Marcie;
Wegner, Jeremy;
Phillips, Jennifer B.;
Macnamara, Ellen;
Huang, Yan;
Adams, David R.;
Toro, Camilo;
Gahl, William A.;
Malicdan, May Christine V.;
Tifft, Cynthia J.;
Zink, Erika M.;
Bloodsworth, Kent J.;
Stratton, Kelly G.;
Koeller, David M.;
Metz, Thomas O.

Publication type:

Correction Notice

yippee like 3 (ypel3) is a novel gene required for myelinating and perineurial glia development.

Published in:

PLoS Genetics, 2020, v. 16, n. 6, p. 1, doi. 10.1371/journal.pgen.1008841

By:

Blanco-Sánchez, Bernardo;
Clément, Aurélie;
Stednitz, Sara J.;
Kyle, Jennifer;
Peirce, Judy L.;
McFadden, Marcie;
Wegner, Jeremy;
Phillips, Jennifer B.;
Macnamara, Ellen;
Huang, Yan;
Adams, David R.;
Toro, Camilo;
Gahl, William A.;
Malicdan, May Christine V.;
Tifft, Cynthia J.;
Zink, Erika M.;
Bloodsworth, Kent J.;
Stratton, Kelly G.;
Koeller, David M.;
Metz, Thomas O.

Publication type:

Article

Thoracic involvement in Erdheim-Chester disease: computed tomography imaging findings and their association with the BRAFV600E mutation.

Published in:

2018

By:

Mirmomen, S. Mojdeh;
Sirajuddin, Arlene;
Nikpanah, Moozhan;
Symons, Rolf;
Paschall, Anna K.;
Papageorgiou, Ioannis;
Gahl, William A.;
O'brien, Kevin;
Estrada-Veras, Juvianee I.;
Malayeri, Ashkan A.

Publication type:

journal article

Abdominal involvement in Erdheim-Chester disease (ECD): MRI and CT imaging findings and their association with BRAFV600E mutation.

Published in:

2018

By:

Nikpanah, Moozhan;
Kim, Lauren;
Mirmomen, S. Mojdeh;
Symons, Rolf;
Papageorgiou, Ioannis;
Gahl, William A.;
O’Brien, Kevin;
Estrada-Veras, Juvianee I.;
Malayeri, Ashkan A.;
O'Brien, Kevin

Publication type:

journal article

CB1R and iNOS are distinct players promoting pulmonary fibrosis in Hermansky–Pudlak syndrome.

Published in:

Clinical & Translational Medicine, 2021, v. 11, n. 7, p. 1, doi. 10.1002/ctm2.471

By:

Cinar, Resat;
Park, Joshua K.;
Zawatsky, Charles N.;
Coffey, Nathan J.;
Bodine, Steven P.;
Abdalla, Jasmina;
Yokoyama, Tadafumi;
Jourdan, Tony;
Jay, Lindsey;
Zuo, Mei Xing G.;
O'Brien, Kevin J.;
Huang, Junfeng;
Mackie, Ken;
Alimardanov, Asaf;
Iyer, Malliga R.;
Gahl, William A.;
Kunos, George;
Gochuico, Bernadette R.;
Malicdan, May Christine V.

Publication type:

Article

The Immunome in Two Inherited Forms of Pulmonary Fibrosis.

Published in:

Frontiers in Immunology, 2018, p. 1, doi. 10.3389/fimmu.2018.00076

By:

El-Chemaly, Souheil;
Cheung, Foo;
Kotliarov, Yuri;
O’Brien, Kevin J.;
Gahl, William A.;
Chen, Jinguo;
Perl, Shira Y.;
Biancotto, Angélique;
Gochuico, Bernadette R.

Publication type:

Article

A novel iris transillumination grading scale allowing flexible assessment with quantitative image analysis and visual matching.

Published in:

Ophthalmic Genetics, 2018, v. 39, n. 1, p. 41, doi. 10.1080/13816810.2017.1342134

By:

Wang, Chen;
Brancusi, Flavia;
Valivullah, Zaheer M.;
Anderson, Michael G.;
Cunningham, Denise;
Hedberg-Buenz, Adam;
Power, Bradley;
Simeonov, Dimitre;
Gahl, William A.;
Zein, Wadih M.;
Adams, David R.;
Brooks, Brian

Publication type:

Article