Patients with rare diseases: from therapeutic orphans to pioneers of personalized treatments by Christoph Klein, William A Gahl

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The NIH Undiagnosed Diseases Program: bonding scientists and clinicians by William A. Gahl, Cornelius F. Boerkoel, Manfred Boehm

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First report of inherited thyroxine-binding globulin deficiency in Iran caused by a known de novo mutation in SERPINA7 by Fahimeh Soheilipour, Hassan Fazilaty, Fatemeh Jesmi, William A. Gahl, Babak Behnam

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The Immunome in Two Inherited Forms of Pulmonary Fibrosis by Souheil El-Chemaly, Foo Cheung, Yuri Kotliarov, Kevin J. O’Brien, William A. Gahl, William A. Gahl, Jinguo Chen, Shira Y. Perl, Angélique Biancotto, Bernadette R. Gochuico

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Essential list of medicinal products for rare diseases: recommendations from the IRDiRC Rare Disease Treatment Access Working Group by William A. Gahl, Durhane Wong-Rieger, Virginie Hivert, Rachel Yang, Galliano Zanello, Stephen Groft

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Cysteamine suppresses invasion, metastasis and prolongs survival by inhibiting matrix metalloproteinases in a mouse model of human pancreatic cancer. by Toshio Fujisawa, Benjamin Rubin, Akiko Suzuki, Prabhudas S Patel, William A Gahl, Bharat H Joshi, Raj K Puri

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CTNS molecular genetics profile in a Persian nephropathic cystinosis population by Farideh Ghazi, Rozita Hosseini, Mansoureh Akouchekian, Shahram Teimourian, Zohreh Ataei Kachoei, Hassan Otukesh, William A. Gahl, Babak Behnam

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Cortical atrophy and hypofibrinogenemia due to FGG and TBCD mutations in a single family: a case report by Joshi Stephen, Sheela Nampoothiri, K. P. Vinayan, Dhanya Yesodharan, Preetha Remesh, William A. Gahl, May Christine V. Malicdan

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CTNS molecular genetics profile in a Persian nephropathic cystinosis population by Farideh Ghazi, Rozita Hosseini, Mansoureh Akouchekian, Shahram Teimourian, Zohreh Ataei Kachoei, Hassan Otukesh, William A. Gahl, Babak Behnam

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Two novel compound heterozygous mutations in OPA3 in two siblings with OPA3-related 3-methylglutaconic aciduria by Christina Lam, Linda K. Gallo, Richard Dineen, Carla Ciccone, Heidi Dorward, George E. Hoganson, Lynne Wolfe, William A. Gahl, Marjan Huizing

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cDNA sequencing increases the molecular diagnostic yield in Chediak-Higashi syndrome by Chulaluk Kuptanon, Marie Morimoto, Elena-Raluca Nicoli, Joshi Stephen, David S. Yarnell, Heidi Dorward, William Owen, Suhag Parikh, Namik Yasar Ozbek, Baris Malbora, Carla Ciccone, Meral Gunay-Aygun, William A. Gahl, William A. Gahl, Wendy J. Introne, Wendy J. Introne, May Christine V. Malicdan, May Christine V. Malicdan

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Molecular analysis of the Retinoic Acid Induced 1 gene (RAI1) in patients with suspected Smith-Magenis syndrome without the 17p11.2 deletion. by Thierry Vilboux, Carla Ciccone, Jan K Blancato, Gerald F Cox, Charu Deshpande, Wendy J Introne, William A Gahl, Ann C M Smith, Marjan Huizing

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Clinical, genetic, and structural characterization of a novel TUBB4B tubulinopathy by Jason R. McFadden, Christina Deanne P. Tolete, Yan Huang, Ellen Macnamara, David Sept, Galina Nesterova, William A. Gahl, Dan L. Sackett, May Christine V. Malicdan

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Rationale and Design for a Phase 1 Study of N-Acetylmannosamine for Primary Glomerular Diseases by Marjan Huizing, Tal Yardeni, Federico Fuentes, May C.V. Malicdan, Petcharat Leoyklang, Alexander Volkov, Benjamin Dekel, Emily Brede, Jodi Blake, Alva Powell, Harish Chatrathi, Yair Anikster, Nuria Carrillo, William A. Gahl, Jeffrey B. Kopp

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Pituitary Imaging Abnormalities and Related Endocrine Disorders in Erdheim–Chester Disease by Skand Shekhar, Jorge A. Irizarry-Caro, Ninet Sinaii, William A. Gahl, Juvianee I. Estrada-Veras, Rahul H. Dave, Bernadette R. Gochuico, Georgios Z. Papadakis, Nicholas Patronas, Constantine A. Stratakis, Kevin O’Brien, Fady Hannah-Shmouni

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Biallelic HEPHL1 variants impair ferroxidase activity and cause an abnormal hair phenotype. by Prashant Sharma, Marie Reichert, Yan Lu, Thomas C Markello, David R Adams, Peter J Steinbach, Brie K Fuqua, Xenia Parisi, Stephen G Kaler, Christopher D Vulpe, Gregory J Anderson, William A Gahl, May Christine V Malicdan

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FOXR1 regulates stress response pathways and is necessary for proper brain development. by Andressa Mota, Hannah K Waxman, Rui Hong, Gavin D Lagani, Sheng-Yong Niu, Féodora L Bertherat, Lynne Wolfe, Christine May Malicdan, Thomas C Markello, David R Adams, William A Gahl, Christine S Cheng, Uwe Beffert, Angela Ho

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FOXR1 regulates stress response pathways and is necessary for proper brain development by Andressa Mota, Hannah K. Waxman, Rui Hong, Gavin D. Lagani, Sheng-Yong Niu, Féodora L. Bertherat, Lynne Wolfe, Christine May Malicdan, Thomas C. Markello, David R. Adams, William A. Gahl, Christine S. Cheng, Uwe Beffert, Angela Ho

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Cellular and molecular defects in a patient with Hermansky-Pudlak syndrome type 5. by Joshi Stephen, Tadafumi Yokoyama, Nathanial J Tolman, Kevin J O'Brien, Elena-Raluca Nicoli, Brian P Brooks, Laryssa Huryn, Steven A Titus, David R Adams, Dong Chen, William A Gahl, Bernadette R Gochuico, May Christine V Malicdan

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ATP6V1H Deficiency Impairs Bone Development through Activation of MMP9 and MMP13. by Yihan Zhang, Haigen Huang, Gexin Zhao, Tadafumi Yokoyama, Hugo Vega, Yan Huang, Raman Sood, Kevin Bishop, Valerie Maduro, John Accardi, Camilo Toro, Cornelius F Boerkoel, Karen Lyons, William A Gahl, Xiaohong Duan, May Christine V Malicdan, Shuo Lin

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