Search | Virtual Health Library

1.

Unique variants in CLCN3, encoding an endosomal anion/proton exchanger, underlie a spectrum of neurodevelopmental disorders.

Duncan, Anna R; Polovitskaya, Maya M; Gaitán-Peñas, Héctor; Bertelli, Sara; VanNoy, Grace E; Grant, Patricia E; O'Donnell-Luria, Anne; Valivullah, Zaheer; Lovgren, Alysia Kern; England, Elaina M; Agolini, Emanuele; Madden, Jill A; Schmitz-Abe, Klaus; Kritzer, Amy; Hawley, Pamela; Novelli, Antonio; Alfieri, Paolo; Colafati, Giovanna Stefania; Wieczorek, Dagmar; Platzer, Konrad; Luppe, Johannes; Koch-Hogrebe, Margarete; Abou Jamra, Rami; Neira-Fresneda, Juanita; Lehman, Anna; Boerkoel, Cornelius F; Seath, Kimberly; Clarke, Lorne; van Ierland, Yvette; Argilli, Emanuela; Sherr, Elliott H; Maiorana, Andrea; Diel, Thilo; Hempel, Maja; Bierhals, Tatjana; Estévez, Raúl; Jentsch, Thomas J; Pusch, Michael; Agrawal, Pankaj B.

Am J Hum Genet ; 108(8): 1450-1465, 2021 08 05.

Article in English | MEDLINE | ID: mdl-34186028

2.

Natural history of cardiac findings in mucopolysaccharidosis type I: report from an international registry.

Braunlin, Elizabeth; Bay, Luisa; Guffon, Nathalie; Yang, Meng; Pangaud, Nicolas; Clarke, Lorne A.

Cardiol Young ; 34(2): 401-411, 2024 Feb.

Article in English | MEDLINE | ID: mdl-37850463

3.

Variant Classification for Pompe disease; ACMG/AMP specifications from the ClinGen Lysosomal Diseases Variant Curation Expert Panel.

Goldstein, Jennifer L; McGlaughon, Jennifer; Kanavy, Dona; Goomber, Shelly; Pan, Yinghong; Deml, Brett; Donti, Taraka; Kearns, Liz; Seifert, Bryce A; Schachter, Miriam; Son, Rachel G; Thaxton, Courtney; Udani, Rupa; Bali, Deeksha; Baudet, Heather; Caggana, Michele; Hung, Christina; Kyriakopoulou, Lianna; Rosenblum, Lynne; Steiner, Robert; Pinto E Vairo, Filippo; Wang, Yang; Watson, Michael; Fernandez, Raquel; Weaver, Meredith; Clarke, Lorne; Rehder, Catherine.

Mol Genet Metab ; 140(1-2): 107715, 2023.

Article in English | MEDLINE | ID: mdl-37907381

4.

The Clinical Variant Analysis Tool: Analyzing the evidence supporting reported genomic variation in clinical practice.

Chin, Hui-Lin; Gazzaz, Nour; Huynh, Stephanie; Handra, Iulia; Warnock, Lynn; Moller-Hansen, Ashley; Boerkoel, Pierre; Jacobsen, Julius O B; du Souich, Christèle; Zhang, Nan; Shefchek, Kent; Prentice, Leah M; Washington, Nicole; Haendel, Melissa; Armstrong, Linlea; Clarke, Lorne; Li, Wenhui Laura; Smedley, Damian; Robinson, Peter N; Boerkoel, Cornelius F.

Genet Med ; 24(7): 1512-1522, 2022 07.

Article in English | MEDLINE | ID: mdl-35442193

5.

Growth in individuals with attenuated mucopolysaccharidosis type I during untreated and treated periods: Data from the MPS I registry.

Polgreen, Lynda E; Bay, Luisa; Clarke, Lorne A; Guffon, Nathalie; Jones, Simon A; Muenzer, Joseph; Flores, Ana Lorena; Wilson, Kathryn; Viskochil, David.

Am J Med Genet A ; 188(10): 2941-2951, 2022 10.

Article in English | MEDLINE | ID: mdl-35869927

6.

Pharmacological Chaperones for GCase that Switch Conformation with pH Enhance Enzyme Levels in Gaucher Animal Models.

Santana, Andrés G; Robinson, Kyle; Vickers, Chelsea; Deen, Matthew C; Chen, Hong-Ming; Zhou, Stephen; Dai, Ben; Fuller, Maria; Boraston, Alisdair B; Vocadlo, David J; Clarke, Lorne A; Withers, Stephen G.

Angew Chem Int Ed Engl ; 61(38): e202207974, 2022 09 19.

Article in English | MEDLINE | ID: mdl-35864061

7.

Mobile element insertion detection in 89,874 clinical exomes.

Torene, Rebecca I; Galens, Kevin; Liu, Shuxi; Arvai, Kevin; Borroto, Carlos; Scuffins, Julie; Zhang, Zhancheng; Friedman, Bethany; Sroka, Hana; Heeley, Jennifer; Beaver, Erin; Clarke, Lorne; Neil, Sarah; Walia, Jagdeep; Hull, Danna; Juusola, Jane; Retterer, Kyle.

Genet Med ; 22(5): 974-978, 2020 05.

Article in English | MEDLINE | ID: mdl-31965078

8.

Phenotypic spectrum and transcriptomic profile associated with germline variants in TRAF7.

Castilla-Vallmanya, Laura; Selmer, Kaja K; Dimartino, Clémantine; Rabionet, Raquel; Blanco-Sánchez, Bernardo; Yang, Sandra; Reijnders, Margot R F; van Essen, Antonie J; Oufadem, Myriam; Vigeland, Magnus D; Stadheim, Barbro; Houge, Gunnar; Cox, Helen; Kingston, Helen; Clayton-Smith, Jill; Innis, Jeffrey W; Iascone, Maria; Cereda, Anna; Gabbiadini, Sara; Chung, Wendy K; Sanders, Victoria; Charrow, Joel; Bryant, Emily; Millichap, John; Vitobello, Antonio; Thauvin, Christel; Mau-Them, Frederic Tran; Faivre, Laurence; Lesca, Gaetan; Labalme, Audrey; Rougeot, Christelle; Chatron, Nicolas; Sanlaville, Damien; Christensen, Katherine M; Kirby, Amelia; Lewandowski, Raymond; Gannaway, Rachel; Aly, Maha; Lehman, Anna; Clarke, Lorne; Graul-Neumann, Luitgard; Zweier, Christiane; Lessel, Davor; Lozic, Bernarda; Aukrust, Ingvild; Peretz, Ryan; Stratton, Robert; Smol, Thomas; Dieux-Coëslier, Anne; Meira, Joanna.

Genet Med ; 22(7): 1215-1226, 2020 07.

Article in English | MEDLINE | ID: mdl-32376980

9.

Therapy development for the mucopolysaccharidoses: Updated consensus recommendations for neuropsychological endpoints.

van der Lee, Johanna H; Morton, Jonathan; Adams, Heather R; Clarke, Lorne; Eisengart, Julie B; Escolar, Maria L; Giugliani, Roberto; Harmatz, Paul; Hogan, Melissa; Kearney, Shauna; Muenzer, Joseph; Muschol, Nicole; Rust, Stewart; Saville, Benjamin R; Semrud-Clikeman, Margaret; Wang, Raymond; Shapiro, Elsa.

Mol Genet Metab ; 131(1-2): 181-196, 2020.

Article in English | MEDLINE | ID: mdl-32917509

10.

Low-dose agalsidase beta treatment in male pediatric patients with Fabry disease: A 5-year randomized controlled trial.

Ramaswami, Uma; Bichet, Daniel G; Clarke, Lorne A; Dostalova, Gabriela; Fainboim, Alejandro; Fellgiebel, Andreas; Forcelini, Cassiano M; An Haack, Kristina; Hopkin, Robert J; Mauer, Michael; Najafian, Behzad; Scott, C Ronald; Shankar, Suma P; Thurberg, Beth L; Tøndel, Camilla; Tylki-Szymanska, Anna; Bénichou, Bernard; Wijburg, Frits A.

Mol Genet Metab ; 127(1): 86-94, 2019 05.

Article in English | MEDLINE | ID: mdl-30987917

11.

Genetic abnormalities in a large cohort of Coffin-Siris syndrome patients.

Sekiguchi, Futoshi; Tsurusaki, Yoshinori; Okamoto, Nobuhiko; Teik, Keng Wee; Mizuno, Seiji; Suzumura, Hiroshi; Isidor, Bertrand; Ong, Winnie Peitee; Haniffa, Muzhirah; White, Susan M; Matsuo, Mari; Saito, Kayoko; Phadke, Shubha; Kosho, Tomoki; Yap, Patrick; Goyal, Manisha; Clarke, Lorne A; Sachdev, Rani; McGillivray, George; Leventer, Richard J; Patel, Chirag; Yamagata, Takanori; Osaka, Hitoshi; Hisaeda, Yoshiya; Ohashi, Hirofumi; Shimizu, Kenji; Nagasaki, Keisuke; Hamada, Junpei; Dateki, Sumito; Sato, Takashi; Chinen, Yasutsugu; Awaya, Tomonari; Kato, Takeo; Iwanaga, Kougoro; Kawai, Masahiko; Matsuoka, Takashi; Shimoji, Yoshikazu; Tan, Tiong Yang; Kapoor, Seema; Gregersen, Nerine; Rossi, Massimiliano; Marie-Laure, Mathieu; McGregor, Lesley; Oishi, Kimihiko; Mehta, Lakshmi; Gillies, Greta; Lockhart, Paul J; Pope, Kate; Shukla, Anju; Girisha, Katta Mohan.

J Hum Genet ; 64(12): 1173-1186, 2019 Dec.

Article in English | MEDLINE | ID: mdl-31530938

12.

Genotype-phenotype relationships in mucopolysaccharidosis type I (MPS I): Insights from the International MPS I Registry.

Clarke, Lorne A; Giugliani, Roberto; Guffon, Nathalie; Jones, Simon A; Keenan, Hillary A; Munoz-Rojas, Maria V; Okuyama, Torayuki; Viskochil, David; Whitley, Chester B; Wijburg, Frits A; Muenzer, Joseph.

Clin Genet ; 96(4): 281-289, 2019 10.

Article in English | MEDLINE | ID: mdl-31194252

13.

Growth patterns for untreated individuals with MPS I: Report from the international MPS I registry.

Viskochil, David; Clarke, Lorne A; Bay, Luisa; Keenan, Hillary; Muenzer, Joseph; Guffon, Nathalie.

Am J Med Genet A ; 179(12): 2425-2432, 2019 12.

Article in English | MEDLINE | ID: mdl-31639289

14.

RAPIDOMICS: rapid genome-wide sequencing in a neonatal intensive care unit-successes and challenges.

Elliott, Alison M; du Souich, Christèle; Lehman, Anna; Guella, Ilaria; Evans, Daniel M; Candido, Tara; Tooman, Leah; Armstrong, Linlea; Clarke, Lorne; Gibson, William; Gill, Harinder; Lavoie, Pascal M; Lewis, Suzanne; McKinnon, Margaret L; Nikkel, Sarah M; Patel, Millan; Solimano, Alfonso; Synnes, Anne; Ting, Joseph; van Allen, Margot; Christilaw, Jan; Farrer, Matthew J; Friedman, Jan M; Osiovich, Horacio.

Eur J Pediatr ; 178(8): 1207-1218, 2019 Aug.

Article in English | MEDLINE | ID: mdl-31172278

15.

Cognitive endpoints for therapy development for neuronopathic mucopolysaccharidoses: Results of a consensus procedure.

van der Lee, Johanna H; Morton, Jonathan; Adams, Heather R; Clarke, Lorne; Ebbink, Berendine Johanne; Escolar, Maria L; Giugliani, Roberto; Harmatz, Paul; Hogan, Melissa; Jones, Simon; Kearney, Shauna; Muenzer, Joseph; Rust, Stewart; Semrud-Clikeman, Margaret; Wijburg, Frits A; Yu, Zi-Fan; Janzen, Darren; Shapiro, Elsa.

Mol Genet Metab ; 121(2): 70-79, 2017 06.

Article in English | MEDLINE | ID: mdl-28501294

16.

Is it Fabry disease?

Schiffmann, Raphael; Fuller, Maria; Clarke, Lorne A; Aerts, Johannes M F G.

Genet Med ; 18(12): 1181-1185, 2016 12.

Article in English | MEDLINE | ID: mdl-27195818

17.

Implementing evidence-driven individualized treatment plans within Morquio A Syndrome.

Clarke, Lorne A; Harmatz, Paul; Fong, Edward W.

Mol Genet Metab ; 117(2): 217, 2016 Feb.

Article in English | MEDLINE | ID: mdl-26877092

18.

12 year follow up of enzyme-replacement therapy in two siblings with attenuated mucopolysaccharidosis I: the important role of early treatment.

Gabrielli, Orazio; Clarke, Lorne A; Ficcadenti, Anna; Santoro, Lucia; Zampini, Lucia; Volpi, Nicola; Coppa, Giovanni V.

BMC Med Genet ; 17: 19, 2016 Mar 10.

Article in English | MEDLINE | ID: mdl-26965916

19.

Extracellular matrix disruption is an early event in the pathogenesis of skeletal disease in mucopolysaccharidosis I.

Heppner, Jonathan M; Zaucke, Frank; Clarke, Lorne A.

Mol Genet Metab ; 114(2): 146-55, 2015 Feb.

Article in English | MEDLINE | ID: mdl-25410057

20.

Mucopolysaccharidosis IVA (Morquio A syndrome) and VI (Maroteaux-Lamy syndrome): under-recognized and challenging to diagnose.

Lachman, Ralph S; Burton, Barbara K; Clarke, Lorne A; Hoffinger, Scott; Ikegawa, Shiro; Jin, Dong-Kyu; Kano, Hiroki; Kim, Ok-Hwa; Lampe, Christina; Mendelsohn, Nancy J; Shediac, Renée; Tanpaiboon, Pranoot; White, Klane K.

Skeletal Radiol ; 43(3): 359-69, 2014 Mar.

Article in English | MEDLINE | ID: mdl-24389823

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