A 3-year randomized therapeutic trial of nitisinone in alkaptonuria
Introne, Wendy J., Perry, Monique B., Troendle, James, Tsilou, Ekaterini, Kayser, Michael A., Suwannarat, Pim, O'Brien, Kevin E., Bryant, Joy, Sachdev, Vandana, Reynolds, James C., Moylan, Elizabeth, Bernardini, Isa, Gahl, William A.
Published in Molecular genetics and metabolism (01.08.2011)
Published in Molecular genetics and metabolism (01.08.2011)
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Journal Article
Genetic variants associated with Hermansky-Pudlak syndrome
Merideth, Melissa A., Introne, Wendy J., Wang, Jennifer A., O'Brien, Kevin J., Huizing, Marjan, Gochuico, Bernadette R.
Published in Platelets (Edinburgh) (18.05.2020)
Published in Platelets (Edinburgh) (18.05.2020)
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Journal Article
Chediak-Higashi syndrome: Lysosomal trafficking regulator domains regulate exocytosis of lytic granules but not cytokine secretion by natural killer cells
Gil-Krzewska, Aleksandra, PhD, Wood, Stephanie M., PhD, Murakami, Yousuke, PhD, Nguyen, Victoria, BSc, Cher Chiang, Samuel Cern, MSc, Cullinane, Andrew R., PhD, Peruzzi, Giovanna, PhD, Gahl, William A., MD, PhD, Coligan, John E., PhD, Introne, Wendy J., MD, Bryceson, Yenan T., PhD, Krzewski, Konrad, PhD
Published in Journal of allergy and clinical immunology (01.04.2016)
Published in Journal of allergy and clinical immunology (01.04.2016)
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Journal Article
Exome analysis of Smith–Magenis-like syndrome cohort identifies de novo likely pathogenic variants
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.
Published in Human genetics (01.04.2017)
Published in Human genetics (01.04.2017)
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Journal Article
cDNA sequencing increases the molecular diagnostic yield in Chediak-Higashi syndrome
Kuptanon, Chulaluk, Morimoto, Marie, Nicoli, Elena-Raluca, Stephen, Joshi, Yarnell, David S, Dorward, Heidi, Owen, William, Parikh, Suhag, Ozbek, Namik Yasar, Malbora, Baris, Ciccone, Carla, Gunay-Aygun, Meral, Gahl, William A, Introne, Wendy J, Malicdan, May Christine V
Published in Frontiers in genetics (08.03.2023)
Published in Frontiers in genetics (08.03.2023)
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Journal Article
The neuropsychological phenotype of Chediak-Higashi disease
Shirazi, Talia N, Snow, Joseph, Ham, Lillian, Raglan, Greta B, Wiggs, Edythe A, Summers, Angela C, Toro, Camilo, Introne, Wendy J
Published in Orphanet journal of rare diseases (06.05.2019)
Published in Orphanet journal of rare diseases (06.05.2019)
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Journal Article
Hermansky-Pudlak syndrome and oculocutaneous albinism in Chinese children with pigmentation defects and easy bruising
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
Published in Orphanet journal of rare diseases (21.02.2019)
Published in Orphanet journal of rare diseases (21.02.2019)
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Journal Article
Molecular analysis of the Retinoic Acid Induced 1 gene (RAI1) in patients with suspected Smith-Magenis syndrome without the 17p11.2 deletion
Vilboux, Thierry, Ciccone, Carla, Blancato, Jan K, Cox, Gerald F, Deshpande, Charu, Introne, Wendy J, Gahl, William A, Smith, Ann C M, Huizing, Marjan
Published in PloS one (08.08.2011)
Published in PloS one (08.08.2011)
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Journal Article
Investigating Determinants and Evaluating Deep Learning Training Approaches for Visual Acuity in Foveal Hypoplasia
Malechka, Volha V., Duong, Dat, Bordonada, Keyla D., Turriff, Amy, Blain, Delphine, Murphy, Elizabeth, Introne, Wendy J., Gochuico, Bernadette R., Adams, David R., Zein, Wadih M., Brooks, Brian P., Huryn, Laryssa A., Solomon, Benjamin D., Hufnagel, Robert B.
Published in Ophthalmology science (Online) (01.03.2023)
Published in Ophthalmology science (Online) (01.03.2023)
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Journal Article
Aortic stenosis and vascular calcifications in alkaptonuria
Hannoush, Hwaida, Introne, Wendy J., Chen, Marcus Y., Lee, Sook-Jin, O'Brien, Kevin, Suwannarat, Pim, Kayser, Michael A., Gahl, William A., Sachdev, Vandana
Published in Molecular genetics and metabolism (01.02.2012)
Published in Molecular genetics and metabolism (01.02.2012)
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Journal Article
Chediak-Higashi syndrome presenting as young-onset levodopa-responsive parkinsonism
Bhambhani, Vikas, Introne, Wendy J., Lungu, Codrin, Cullinane, Andrew, Toro, Camilo
Published in Movement disorders (01.02.2013)
Published in Movement disorders (01.02.2013)
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Journal Article
Chediak-Higashi syndrome
Talbert, Mackenzie L, Malicdan, May Christine V, Introne, Wendy J
Published in Current opinion in hematology (01.07.2023)
Published in Current opinion in hematology (01.07.2023)
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Journal Article
LYST deficiency impairs autophagic lysosome reformation in neurons and alters lysosome number and size
Serra-Vinardell, Jenny, Sandler, Maxwell B., De Pace, Raffaella, Manzella-Lapeira, Javier, Cougnoux, Antony, Keyvanfar, Keyvan, Introne, Wendy J., Brzostowski, Joseph A., Ward, Michael E., Gahl, William A., Sharma, Prashant, Malicdan, May Christine V.
Published in Cellular and molecular life sciences : CMLS (01.02.2023)
Published in Cellular and molecular life sciences : CMLS (01.02.2023)
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Journal Article
An actin cytoskeletal barrier inhibits lytic granule release from natural killer cells in patients with Chediak-Higashi syndrome
Gil-Krzewska, Aleksandra, Saeed, Mezida B., Oszmiana, Anna, Fischer, Elizabeth R., Lagrue, Kathryn, Gahl, William A., Introne, Wendy J., Coligan, John E., Davis, Daniel M., Krzewski, Konrad
Published in Journal of allergy and clinical immunology (01.09.2018)
Published in Journal of allergy and clinical immunology (01.09.2018)
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Journal Article
Patient-reported outcomes and functional assessments of patients with Alkaptonuria in a 3-year Nitisinone treatment trial
Spears, Kathryn R., Rossignol, Francis, Perry, Monique B., Kayser, Michael A., Suwannarat, Pim, O'Brien, Kevin E., Bryant, Joy C., Greenwood, Wendy F., Fuller, Steve, Gahl, William A., Introne, Wendy J.
Published in Molecular genetics and metabolism (01.09.2024)
Published in Molecular genetics and metabolism (01.09.2024)
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Journal Article
Correction: LYST deficiency impairs autophagic lysosome reformation in neurons and alters lysosome number and size
Serra-Vinardell, Jenny, Sandler, Maxwell B., De Pace, Raffaella, Manzella-Lapeira, Javier, Cougnoux, Antony, Keyvanfar, Keyvan, Introne, Wendy J., Brzostowski, Joseph A., Ward, Michael E., Gahl, William A., Sharma, Prashant, Malicdan, May Christine V.
Published in Cellular and molecular life sciences : CMLS (04.03.2023)
Published in Cellular and molecular life sciences : CMLS (04.03.2023)
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Journal Article
Spectrum of LYST mutations in Chediak-Higashi syndrome: a report of novel variants and a comprehensive review of the literature
Morimoto, Marie, Nicoli, Elena-Raluca, Kuptanon, Chulaluck, Roney, Joseph C, Serra-Vinardell, Jenny, Sharma, Prashant, Adams, David R, Gallin, John I, Holland, Steven M, Rosenzweig, Sergio D, Barbot, Jose, Ciccone, Carla, Huizing, Marjan, Toro, Camilo, Gahl, William A, Introne, Wendy J, Malicdan, May Christine V
Published in Journal of medical genetics (01.03.2024)
Published in Journal of medical genetics (01.03.2024)
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Journal Article
Cysteinyl-tRNA Synthetase Mutations Cause a Multi-System, Recessive Disease That Includes Microcephaly, Developmental Delay, and Brittle Hair and Nails
Kuo, Molly E., Theil, Arjan F., Kievit, Anneke, Malicdan, May Christine, Introne, Wendy J., Christian, Thomas, Verheijen, Frans W., Smith, Desiree E.C., Mendes, Marisa I., Hussaarts-Odijk, Lidia, van der Meijden, Eric, van Slegtenhorst, Marjon, Wilke, Martina, Vermeulen, Wim, Raams, Anja, Groden, Catherine, Shimada, Shino, Meyer-Schuman, Rebecca, Hou, Ya Ming, Gahl, William A., Antonellis, Anthony, Salomons, Gajja S., Mancini, Grazia M.S.
Published in American journal of human genetics (07.03.2019)
Published in American journal of human genetics (07.03.2019)
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