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Reporting ABCD1 variants as actionable secondary findings on exome and genome sequencing Gonzalez, Carlos A. Dominguez; Spinner, Nancy B.; Ahrens-Nicklas, Rebecca C.; Young, Lisa R.; Voss, Laura A.; Reichert, Sara L.; Gallo, Daniel J.; Cohen, Julie S.; Bonkowsky, Joshua L.; Keller, Stephanie R.; Bennett, Mariko L.; Pizzino, Amy M.; Swantkowski, Meghan; Arnold, Kaley; Fraser, Jamie L.; Emerson, Felicity J.; Miettunen, Kelly; Fatemi, Ali; Haren, Keith P. Van; Adang, Laura; Waldman, Amy; Emrick, Lisa; Eichler, Florian; Vanderver, Adeline Share Save
The natural history of variable subtypes in pediatric-onset TUBB4A-related leukodystrophy Gavazzi, Francesco; Charsar, Brittany; Hamilton, Eline; Erler, Jacqueline A.; Patel, Virali; Woidill, Sarah; Sevagamoorthy, Anjana; Helman, Guy; Schmidt, Johanna; Pizzino, Amy; Muirhead, Kayla; Takanohashi, Asako; Bonkowsky, Joshua L.; Meyerhoffer, Kelsee; Simons, Cas; Doi, Hiroshi; Satoko, Miyatake; Matsumoto, Naomichi; Delgado, Mauricio R.; Sanchez-Castillo, Meredith; Wang, Jingming; de Carvalho, Daniel Rocha; Tournev, Ivailo; Chamova, Teodora; Jordanova, Albena; Clegg, Nancy J.; Nicita, Francesco; Bertini, Enrico; Teng, Michelle; Williams, Dan; Tonduti, Davide; Houlden, Henry; Stellingwerff, Menno; Wassmer, Evangeline; Garcia-Cazorla, Angeles; Bernard, Genevieve; Mirchi, Amytice; Toutounchi, Helia; Wolf, Nicole I.; van der Knaap, Marjo S.; Shults, Justine; Adang, Laura A.; Vanderver, Adeline L. Share Save
Systemic complications of Aicardi Goutieres syndrome using real-world data de Barcelos, Isabella Peixoto; Jan, Amanda K.; Modesti, Nicholson; Woidill, Sarah; Gavazzi, Francesco; Isaacs, David; D'Aiello, Russell; Sevagamoorthy, Anjana; Charlton, Lauren; Pizzino, Amy; Schmidt, Johanna; van Haren, Keith; Keller, Stephanie; Eichler, Florian; Emrick, Lisa T.; Fraser, Jamie L.; Shults, Justine; Vanderver, Adeline; Adang, Laura A. Share Save
Developmental delay can precede neurologic regression in early onset metachromatic leukodystrophy Adang, Laura Ann; Groeschel, Samuel; Grzyb, Chloe; D'Aiello, Russell; Gavazzi, Francesco; Sherbini, Omar; Bronner, Nowa; Patel, Akshilkumar; Vincent, Ariel; Sevagamoorthy, Anjana; Mutua, Sylvia; Muirhead, Kayla; Schmidt, Johanna; Pizzino, Amy; Yu, Emily; Jin, Danielle; Eichler, Florian; Fraser, Jamie L.; Emrick, Lisa; Van Haren, Keith; Boulanger, Jean-Martin; Ruzhnikov, Maura; Sylvain, Michel; Nguyen, Cam-Tu Emilie; Potic, Ana; Keller, Stephanie; Fatemi, Ali; Uebergang, Eloise; Poe, Michele; Yazdani, Pouneh Amir; Bernat, John; Lindstrom, Kristen; Bonkowsky, Joshua L.; Bernard, Genevieve; Stutterd, Chloe A.; Orchard, Paul; Gupta, Ashish O.; Ljungberg, Merete; Groenborg, Sabine; Zambon, Alberto; Locatelli, Sara; Fumagalli, Francesca; Elguen, Saskia; Kehrer, Christiane; Krageloh-Mann, Ingeborg; Shults, Justine; Vanderver, Adeline; Escolar, Maria L. Share Save
Longitudinal natural history studies based on real-world data in rare diseases: Opportunity and a novel approach Adang, Laura Ann; Sevagamoorthy, Anjana; Sherbini, Omar; Fraser, Jamie L.; Bonkowsky, Joshua L.; Gavazzi, Francesco; D'Aiello, Russel; Modesti, Nicholson B.; Yu, Emily; Mutua, Sylvia; Kotes, Emma; Shults, Justine; Vincent, Ariel; Emrick, Lisa T.; Keller, Stephanie; Haren, Keith P. Van; Woidill, Sarah; Barcelos, Isabella; Pizzino, Amy; Schmidt, Johanna L.; Eichler, Florian; Fatemi, Ali; Vanderver, Adeline Share Save
The natural history of variable subtypes in pediatric-onset TUBB4A-related disorders Vanderver, Adeline; Gavazzi, Francesco; Charsar, Brittany; Erler, Jacqueline; Patel, Virali; Helman, Guy; Schmidt, Johanna; Pizzino, Amy; Muirhead, Kayla; Takanohashi, Asako; Wassmer, Evangeline; Tonduti, Davide; Houlden, Henry; Bernard, Genevieve; Wolf, Nicole; van der Knaap, Marjo; Shults, Justine; Adang, Laura Share Save
Autosomal recessive BLOC1S1 variants cause a hypomyelinating leukodystrophy with epileptic encephalopathy Gonzalez, Carlos Dominguez; Sanderson, Leslie E.; Depace, Raffaella; Helman, Guy; Wu, Kaiyuan; Disanza, Brianna; Pizzino, Amy; Schmidt, Johanna; Muirhead, Kayla; Bonkowsky, Joshua; Taft, Ryan; Sannaa, Nouriya; Dias, Patricia; Mutlu, Mehmet Burak; Bertoli-Avella, Aida M.; Maroofian, Reza; Barakat, Tahsin Stefan; Bhoj, Elizabeth; Ahrens-Nicklas, Rebecca; Simons, Cas; Wolvetang, Ernst; Sack, Michael N.; van Ham, Tjakko; Hsiao-Sanchez, Nicole; Bonifacino, Juan S.; Vanderver, Adeline Share Save
Development of a rigorous approach for retrospective natural history studies in leukodystrophies Sevagamoorthy, Anjana; Gavazzi, Francesco; Sherbini, Omar; Vincent, Ariel; D'Aiello, Russel; Modesti, Nicholson; Mutua, Sylvia; Yu, Emily; Woidill, Sarah; Schmidt, Johanna L.; Pizzino, Amy; Shults, Justine; Vanderver, Adeline; Adang, Laura A. Share Save
Expanded phenotype of AARS1-related white matter disease Heiman, Guy; Mendes, Marisa, I; Nicita, Francesco; Darbelli, Lama; Sherbini, Omar; Moore, Travis; Derksen, Alexa; Pizzino, Amy; Carrozzo, Rosalba; Torraco, Alessandra; Catteruccia, Michela; Aiello, Chiara; Goffrini, Paola; Figuccia, Sonia; Smith, Desiree E. C.; Hadzsiev, Kinga; Hahn, Andreas; Biskup, Saskia; Broesse, Ines; Kotzaeridou, Urania; Gauck, Darja; Grebe, Theresa A.; Elmslie, Frances; Stals, Karen; Gupta, Rajat; Bertini, Enrico; Thiffault, Isabelle; Taft, Ryan J.; Schiffmann, Raphael; Brandl, Ulrich; Haack, Tobias B.; Salomons, Gajja S.; Simons, Cas; Bernard, Genevieve; van der Knaap, Marjo S.; Vanderver, Adeline; Husain, Ralf A. Share Save
Further Delineation of the Clinical and Pathologic Features of HIKESHI- Related Hypomyelinating Leukodystrophy Helman, Guy; Zerem, Ayelet; Almad, Akshata; Hacker, Julia L.; Woidill, Sarah; Sase, Sunetra; LeFevre, Alexandra N.; Ekstein, Josef; Johansson, Martin M.; Stutterd, Chloe A.; Taft, Ryan J.; Simons, Cas; Grinspan, Judith B.; Pizzino, Amy; Schmidt, Johanna L.; Harding, Brian; Hirsch, Yoel; Viaene, Angela N.; Fattal-Valevski, Aviva; Vanderver, Adeline Share Save
Histone H3.3 beyond cancer: Germline mutations in Histone 3 Family 3A and 3B cause a previously unidentified neurodegenerative disorder in 46 patients Bryant, Laura; Li, Dong; Cox, Samuel G.; Marchione, Dylan; Joiner, Evan F.; Wilson, Khadija; Janssen, Kevin; Lee, Pearl; March, Michael E.; Nair, Divya; Sherr, Elliott; Fregeau, Brieana; Wierenga, Klaas J.; Wadley, Alexandrea; Mancini, Grazia M. S.; Powell-Hamilton, Nina; van de Kamp, Jiddeke; Grebe, Theresa; Dean, John; Ross, Alison; Crawford, Heather P.; Powis, Zoe; Cho, Megan T.; Willing, Marcia C.; Manwaring, Linda; Schot, Rachel; Nava, Caroline; Afenjar, Alexandra; Lessel, Davor; Wagner, Matias; Klopstock, Thomas; Winkelmann, Juliane; Catarino, Claudia B.; Retterer, Kyle; Schuette, Jane L.; Innis, Jeffrey W.; Pizzino, Amy; Luttgen, Sabine; Denecke, Jonas; Strom, Tim M.; Monaghan, Kristin G.; Yuan, Zuo-Fei; Dubbs, Holly; Bend, Renee; Lee, Jennifer A.; Lyons, Michael J.; Hoefele, Julia; Gunthner, Roman; Reutter, Heiko; Keren, Boris; Radtke, Kelly; Sherbini, Omar; Mrokse, Cameron; Helbig, Katherine L.; Odent, Sylvie; Cogne, Benjamin; Mercier, Sandra; Bezieau, Stephane; Besnard, Thomas; Kury, Sebastien; Redon, Richard; Reinson, Karit; Wojcik, Monica H.; Ounap, Katrin; Ilves, Pilvi; Innes, A. Micheil; Kernohan, Kristin D.; Costain, Gregory; Meyn, M. Stephen; Chitayat, David; Zackai, Elaine; Lehman, Anna; Kitson, Hilary; Martin, Martin G.; Martinez-Agosto, Julian A.; Nelson, Stan F.; Palmer, Christina G. S.; Papp, Jeanette C.; Parker, Neil H.; Sinsheimer, Janet S.; Vilain, Eric; Wan, Jijun; Yoon, Amanda J.; Zheng, Allison; Brimble, Elise; Ferrero, Giovanni Battista; Radio, Francesca Clementina; Carli, Diana; Barresi, Sabina; Brusco, Alfredo; Tartaglia, Marco; Thomas, Jennifer Muncy; Umana, Luis; Weiss, Marjan M.; Gotway, Garrett; Stuurman, K. E.; Thompson, Michelle L.; McWalter, Kirsty; Stumpel, Constance T. R. M.; Stevens, Servi J. C.; Stegmann, Alexander P. A.; Tveten, Kristian; Vollo, Arve; Prescott, Trine; Fagerberg, Christina; Laulund, Lone Walentin; Larsen, Martin J.; Byler, Melissa; Lebel, Robert Roger; Hurst, Anna C.; Dean, Joy; Vergano, Samantha A. Schrier; Norman, Jennifer; Mercimek-Andrews, Saadet; Neira, Juanita; Van Allen, Margot, I; Longo, Nicola; Sellars, Elizabeth; Louie, Raymond J.; Cathey, Sara S.; Brokamp, Elly; Heron, Delphine; Snyder, Molly; Vanderver, Adeline; Simon, Celeste; de la Cruz, Xavier; Padilla, Natalia; Crump, J. Gage; Chung, Wendy; Garcia, Benjamin; Hakonarson, Hakon H.; Bhoj, Elizabeth J. Share Save
Endocrine and Growth Abnormalities in 4H Leukodystrophy Caused by Variants in POLR3A, POLR3B, and POLR1C Pelletier, Felixe; Perrier, Stefanie; Cayami, Ferdy K.; Mirchi, Amytice; Saikali, Stephan; Tran, Luan T.; Ulrick, Nicole; Guerrero, Kether; Rampakakis, Emmanouil; van Spaendonk, Rosalina M. L.; Naidu, Sakkubai; Pohl, Daniela; Gibson, William T.; Demos, Michelle; Goizet, Cyril; Tejera-Martin, Ingrid; Potic, Ana; Fogel, Brent L.; Brais, Bernard; Sylvain, Michel; Sebire, Guillaume; Lourenco, Charles Marques; Bonkowsky, Joshua L.; Catsman-Berrevoets, Coriene; Pinto, Pedro S.; Tirupathi, Sandya; Stromme, Petter; de Grauw, Ton; Gieruszczak-Bialek, Dorota; Kraegeloh-Mann, Ingeborg; Mierzewska, Hanna; Philippi, Heike; Rankin, Julia; Atik, Tahir; Banwell, Brenda; Benko, William S.; Blaschek, Astrid; Bley, Annette; Boltshauser, Eugen; Bratkovic, Drago; Brozova, Klara; Cimas, Iciar; Clough, Christopher; Corenblum, Bernard; Dinopoulos, Argirios; Dolan, Gail; Faletra, Flavio; Fernandez, Raymond; Fletcher, Janice; Garcia, Maria Eugenia Garcia; Gasparini, Paolo; Gburek-Augustat, Janina; Gonzalez Moron, Dolores; Hamati, Aline; Harting, Inga; Hertzberg, Christoph; Hill, Alan; Hobson, Grace M.; Innes, A. Micheil; Kauffman, Marcelo; Kirwin, Susan M.; Kluger, Gerhard; Kolditz, Petra; Kotzaeridou, Urania; La Piana, Roberta; Liston, Eriskay; McClintock, William; McEntagart, Meriel; McKenzie, Fiona; Melancon, Serge; Misbahuddin, Anjum; Suri, Mohnish; Monton, Fernando, I; Moutton, Sebastien; Murphy, Raymond P. J.; Nickel, Miriam; Onay, Huseyin; Orcesi, Simona; Ozkinay, Ferda; Patzer, Steffi; Pedro, Helio; Pekic, Sandra; Marfa, Mercedes Pineda; Pizzino, Amy; Plecko, Barbara; Poll-The, Bwee Tien; Popovic, Vera; Rating, Dietz; Rioux, Marie-France; Espinosa, Norberto Rodriguez; Ronan, Anne; Ostergaard, John R.; Rossignol, Elsa; Sanchez-Carpintero, Rocio; Schossig, Anna; Senbil, Nesrin; Roos, Laura K. Sonderberg; Stevens, Cathy A.; Synofzik, Matthis; Sztriha, Laszlo; Tibussek, Daniel; Timmann, Dagmar; Tonduti, Davide; van de Warrenburg, Bart P.; Vazquez-Lopez, Maria; Venkateswaran, Sunita; Wasling, Pontus; Wassmer, Evangeline; Webster, Richard, I; Wiegand, Gert; Yoon, Grace; Rotteveel, Joost; Schiffmann, Raphael; van der Knaap, Marjo S.; Vanderver, Adeline; Martos-Moreno, Gabriel A.; Polychronakos, Constantin; Wolf, Nicole, I; Bernard, Genevieve Share Save
Phenotypic and Imaging Spectrum Associated With WDR45 Adang, Laura A.; Pizzino, Amy; Malhotra, Alka; Dubbs, Holly; Williams, Catherine; Sherbini, Omar; Anttonen, Anna-Kaisa; Lesca, Gaetan; Linnankivi, Tarja; Laurencin, Chloe; Milh, Matthieu; Perrine, Charles; Schaaf, Christian P.; Poulat, Anne-Lise; Ville, Dorothee; Hagelstrom, Tanner; Perry, Denise L.; Taft, Ryan J.; Goldstein, Amy; Vossough, Arastoo; Helbig, Ingo; Vanderver, Adeline Share Save
Randomized Clinical Trial of First-Line Genome Sequencing in Pediatric White Matter Disorders Vanderver, Adeline; Bernard, Genevieve; Helman, Guy; Sherbini, Omar; Boeck, Ryan; Cohn, Jeffrey; Collins, Abigail; Demarest, Scott; Dobbins, Katherine; Emrick, Lisa; Fraser, Jamie; Masser-Frye, Diane; Hayward, Jean; Karmarkar, Swati; Keller, Stephanie; Mirrop, Samuel; Mitchell, Wendy; Pathak, Sheel; Sherr, Elliott; van Haren, Keith; Waters, Erica; Wilson, Jenny L.; Zhorne, Leah; Schiffmann, Raphael; van der Knaap, Marjo S.; Pizzino, Amy; Dubbs, Holly; Shults, Justine; Simons, Cas; Taft, Ryan J. Share Save
Genome sequencing in persistently unsolved white matter disorders Helman, Guy; Lajoie, Bryan R.; Crawford, Joanna; Takanohashi, Asako; Walkiewicz, Marzena; Dolzhenko, Egor; Gross, Andrew M.; Gainullin, Vladimir G.; Bent, Stephen J.; Jenkinson, Emma M.; Ferdinandusse, Sacha; Waterham, Hans R.; Dorboz, Imen; Bertini, Enrico; Miyake, Noriko; Wolf, Nicole, I; Abbink, Truus E. M.; Kirwin, Susan M.; Tan, Christina M.; Hobson, Grace M.; Guo, Long; Ikegawa, Shiro; Pizzino, Amy; Schmidt, Johanna L.; Bernard, Genevieve; Schiffmann, Raphael; van der Knaap, Marjo S.; Simons, Cas; Taft, Ryan J.; Vanderver, Adeline Share Save
Bi-allelic CSF1R Mutations Cause Skeletal Dysplasia of Dysosteosclerosis-Pyle Disease Spectrum and Degenerative Encephalopathy with Brain Malformation Guo, Long; Bertola, Debora Romeo; Takanohashi, Asako; Saito, Asuka; Segawa, Yuko; Yokota, Takanori; Ishibashi, Satoru; Nishida, Yoichiro; Yamamoto, Guilherme Lopes; da Silva Franco, Jose Francisco; Honjo, Rachel Sayuri; Kim, Chong Ae; Musso, Camila Manso; Timmons, Margaret; Pizzino, Amy; Taft, Ryan J.; Lajoie, Bryan; Knight, Melanie A.; Fischbeck, Kenneth H.; Singleton, Andrew B.; Ferreira, Carlos R.; Wang, Zheng; Yan, Li; Garbern, James Y.; Simsek-Kiper, Pelin O.; Ohashi, Hirofumi; Robey, Pamela G.; Boyde, Alan; Matsumoto, Naomichi; Miyake, Noriko; Spranger, Juergen; Schiffmann, Raphael; Vanderver, Adeline; Nishimura, Gen; dos Santos Passos-Bueno, Maria Rita; Simons, Cas; Ishikawa, Kinya; Ikegawa, Shiro Share Save
Health-Related Quality of Life for Patients With Genetically Determined Leukoencephalopathy Mirchi, Amytice; Pelletier, Felixe; Tran, Luan T.; Keller, Stephanie; Braverman, Nancy; Tonduti, Davide; Vanderver, Adeline; Pizzino, Amy; Dilenge, Marie-Emmanuelle; Poulin, Chantal; Shevell, Michael; Majnemer, Annette; Sebire, Guillaume; Srour, Myriam; Osterman, Bradley; Boucher, Renee-Myriam; Vanasse, Michel; Rossignol, Elsa; Mitchell, John; Venkateswaran, Sunita; Pohl, Daniela; Kauffman, Marcelo; Schiffmann, Raphael; Goizet, Cyril; Moutton, Sebastien; Roncarolo, Federico; Bernard, Genevieve Share Save
Revised consensus statement on the preventive and symptomatic care of patients with leukodystrophies Adang, Laura A.; Sherbini, Omar; Ball, Laura; Bloom, Miriam; Darbari, Anil; Amartino, Hernan; DiVito, Donna; Eichler, Florian; Escolar, Maria; Evans, Sarah H.; Fatemi, Ali; Fraser, Jamie; Hollowell, Leslie; Jaffe, Nicole; Joseph, Christopher; Karpinski, Mary; Keller, Stephanie; Maddock, Ryan; Mancilla, Edna; McClary, Bruce; Mertz, Jana; Morgart, Kiley; Langan, Thomas; Leventer, Richard; Parikh, Sumit; Pizzino, Amy; Prange, Erin; Renaud, Deborah L.; Rizzo, William; Shapiro, Jay; Suhr, Dean; Suhr, Teryn; Tonduti, Davide; Waggoner, Jacque; Waldman, Amy; Wolf, Nicole I.; Zerem, Ayelet; Bonkowsky, Joshua L.; Bernard, Genevieve; van Haren, Keith; Vanderver, Adeline Share Save
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