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Expanded Newborn Screening Using Genome Sequencing for Early Actionable Conditions Ziegler, Alban; Koval-Burt, Carrie; Kay, Denise M.; Suchy, Sharon F.; Begtrup, Amber; Langley, Katherine G.; Hernan, Rebecca; Amendola, Laura M.; Boyd, Brenna M.; Bradley, Jennifer; Brandt, Tracy; Cohen, Lilian L.; Coffey, Alison J.; Devaney, Joseph M.; Dygulska, Beata; Friedman, Bethany; Fuleihan, Ramsay L.; Gyimah, Awura; Hahn, Sihoun; Hofherr, Sean; Hruska, Kathleen S.; Hu, Zhanzhi; Jeanne, Mederic; Jin, Guanjun; Johnson, D. Aaron; Kavus, Haluk; Leibel, Rudolph L.; Lobritto, Steven J.; McGee, Stephen; Milner, Joshua D.; McWalter, Kirsty; Monaghan, Kristin G.; Orange, Jordan S.; Pimentel Soler, Nicole; Quevedo, Yeyson; Ratner, Samantha; Retterer, Kyle; Shah, Ankur; Shapiro, Natasha; Sicko, Robert J.; Silver, Eric S.; Strom, Samuel; Torene, Rebecca I.; Williams, Olatundun; Ustach, Vincent D.; Wynn, Julia; Taft, Ryan J.; Kruszka, Paul; Caggana, Michele; Chung, Wendy K. Share Save
The impact of clinical genome sequencing in a global population with suspected rare genetic disease Thorpe, Erin; Williams, Taylor; Shaw, Chad; Chekalin, Evgenii; Ortega, Julia; Robinson, Keisha; Button, Jason; Jones, Marilyn C.; del Campo, Miguel; Basel, Donald; McCarrier, Julie; Keppen, Laura Davis; Royer, Erin; Foster-Bonds, Romina; Duenas-Roque, Milagros M.; Urraca, Nora; Bosfield, Kerri; Brown, Chester W.; Lydigsen, Holly; Mroczkowski, Henry J.; Ward, Jewell; Sirchia, Fabio; Giorgio, Elisa; Vaux, Keith; Salguero, Hildegard Pena; Lumaka, Aime; Mubungu, Gerrye; Makay, Prince; Ngole, Mamy; Lukusa, Prosper Tshilobo; Vanderver, Adeline; Muirhead, Kayla; Sherbini, Omar; Lah, Melissa D.; Anderson, Katelynn; Bazalar-Montoya, Jeny; Rodriguez, Richard S.; Cornejo-Olivas, Mario; Milla-Neyra, Karina; Shinawi, Marwan; Magoulas, Pilar; Henry, Duncan; Gibson, Kate; Wiafe, Samuel; Jayakar, Parul; Salyakina, Daria; Masser-Frye, Diane; Serize, Arturo; Perez, Jorge E.; Taylor, Alan; Shenbagam, Shruti; Abou Tayoun, Ahmad; Malhotra, Alka; Bennett, Maren; Rajan, Vani; Avecilla, James; Warren, Andrew; Arseneault, Max; Kalista, Tasha; Crawford, Ali; Ajay, Subramanian S.; Perry, Denise L.; Belmont, John; Taft, Ryan J. Share Save
A framework for the evaluation and reporting of incidental findings in clinical genomic testing Brown, Carolyn M.; Amendola, Laura M.; Chandrasekhar, Anjana; Hagelstrom, R. Tanner; Halter, Gillian; Kesari, Akanchha; Thorpe, Erin; Perry, Denise L.; Taft, Ryan J.; Coffey, Alison J. 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
The landscape of reported VUS in multi-gene panel and genomic testing: Time for a change Rehm, Heidi L.; Alaimo, Joseph T.; Aradhya, Swaroop; Bayrak-Toydemir, Pinar; Best, Hunter; Brandon, Rhonda; Buchan, Jillian G.; Chao, Elizabeth C.; Chen, Elaine; Clifford, Jacob; Cohen, Ana S. A.; Conlin, Laura K.; Das, Soma; Davis, Kyle W.; del Gaudio, Daniela; Del Viso, Florencia; Divincenzo, Christina; Eisenberg, Marcia; Guidugli, Lucia; Hammer, Monia B.; Harrison, Steven M.; Hatchell, Kathryn E.; Dyer, Lindsay Havens; Hoang, Lily U.; Holt, James M.; Jobanputra, Vaidehi; Karbassi, Izabela D.; Kearney, Hutton M.; Kelly, Melissa A.; Kelly, Jacob M.; Kluge, Michelle L.; Komala, Timothy; Kruszka, Paul; Lau, Lynette; Lebo, Matthew S.; Marshall, Christian R.; Mcknight, Dianalee; Mcwalter, Kirsty; Meng, Yan; Nagan, Narasimhan; Neckelmann, Christian S.; Neerman, Nir; Niu, Zhiyv; Paolillo, Vitoria K.; Paolucci, Sarah A.; Perry, Denise; Pesaran, Tina; Radtke, Kelly; Rasmussen, Kristen J.; Retterer, Kyle; Saunders, Carol J.; Spiteri, Elizabeth; Stanley, Christine; Szuto, Anna; Taft, Ryan J.; Thiffault, Isabelle; Thomas, Brittany C.; Thomas-Wilson, Amanda; Thorpe, Erin; Tidwell, Timothy J.; Towne, Meghan C.; Zouk, Hana Share Save
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Reactive gene curation to support interpretation and reporting of a clinical genome test for rare disease: Experience from over 1,000 cases Clause, Amanda R.; Taylor, Julie P.; Rajkumar, Revathi; Bluske, Krista; Bennett, Maren; Amendola, Laura M.; Bentley, David R.; Taft, Ryan J.; Perry, Denise L.; Coffey, Alison J. Share Save
Heterozygous NOTCH1 Variants Cause CNS Immune Activation and Microangiopathy Helman, Guy; Zarekiani, Parand; Tromp, Samantha A. M.; Andrews, Ashley; Botto, Lorenzo D.; Bonkowsky, Joshua L.; Chassevent, Anna; Giorgio, Elisa; Pippucci, Tommaso; Wei, Shen; Smith-Hicks, Constance; Vaula, Giovanna; Willemsen, Michel A. A. P.; Schimmel, Mareike; Vollert, Kurt; Shimizu, Fumitaka; Kanda, Takashi; Lynch, Matthew; Roscioli, Tony; Taft, Ryan J.; Simons, Cas; Bugiani, Marianna; Kuijpers, Taco W.; van der Knaap, Marjo S. Share Save
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De Novo ATP1A1 Variants in an Early-Onset Complex Neurodevelopmental Syndrome Dohrn, Maike F.; Rebelo, Adriana P.; Srivastava, Siddharth; Cappuccio, Gerarda; Smigiel, Robert; Malhotra, Alka; Basel, Donald; van de Laar, Ingrid; Neuteboom, Rinze Frederik; Aarts-Tesselaar, Coranne; Mahida, Sonal; Brunetti-Pierri, Nicola; Taft, Ryan J.; Zuchner, Stephan Share Save
A clinical laboratory's experience using GeneMatcher-Building stronger gene-disease relationships Taylor, Julie P.; Malhotra, Alka; Burns, Nicole J.; Clause, Amanda R.; Brown, Carolyn M.; Burns, Brendan T.; Chandrasekhar, Anjana; Schlachetzki, Zinayida; Bennett, Maren; Thorpe, Erin; Taft, Ryan J.; Perry, Denise L.; Coffey, Alison J. Share Save
Best practices for the interpretation and reporting of clinical genome sequencing Austin-Tse, Chrissy; Jobanputra, Vaidehi; Perry, Denise; Bick, David; Taft, Ryan; Venner, Eric; Gibbs, Richard; Young, Ted; Barnett, Sarah; Belmont, John; Boczek, Nicole; Chowdhury, Shimul; Ellsworth, Katarzyna (Kasia); Guha, Saurav; Kulkarni, Shashikant; Marcou, Cherisse; Meng, Linyan; Murdock, David; Rehman, Atteeq; Spiteri, Elizabeth; Thomas-Wilson, Amanda; Kearney, Hutton; Rehm, Heidi Share Save
Genome sequencing uncovers molecular cause in a case with epileptic encephalopathy Chandrasekhar, Anjana; Schlachetzki, Zinayida; Coffey, Alison; Fenstermaker, Ali; Wang, Richard; Bluske, Krista; Naymik, Marcus; Rangasamy, Sampath; Bonfitto, Anna; Jepsen, Wayne; Huentelman, Matt; Narayanan, Vinodh; Ramsey, Keri; Kesari, Akanchha; Perry, Denise; Taft, Ryan Share Save
Effect of Whole-Genome Sequencing on the Clinical Management of Acutely Ill Infants With Suspected Genetic Disease A Randomized Clinical Trial Krantz, Ian D.; Medne, Livija; Weatherly, Jamila M.; Wild, Taylor; Biswas, Sawona; Devkota, Batsal; Hartman, Tiffiney; Brunelli, Luca; Fishler, Kristen P.; Abdul-Rahman, Omar; Euteneuer, Joshua C.; Hoover, Denise; Dimmock, David; Cleary, John; Farnaes, Lauge; Knight, Jason; Schwarz, Adamj.; Vargas-Shiraishi, Ofelia M.; Wigby, Kristin; Zadeh, Neda; Shinawi, Marwan; Wambach, Jennifer A.; Baldridge, Dustin; Cole, F. Sessions; Wegner, Daniel J.; Urraca, Nora; Holtrop, Shannon; Mostafavi, Roya; Mroczkowski, Henry J.; Pivnick, Eniko K.; Ward, Jewell C.; Talati, Ajay; Brown, Chester W.; Belmont, Johnw.; Ortega, Julia L.; Robinson, Keisha D.; Brocklehurst, W. Tyler; Perry, Denise L.; Ajay, Subramanian S.; Hagelstrom, R. Tanner; Bennett, Maren; Rajan, Vani; Taft, Ryan J. 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
Fatal Perinatal Mitochondrial Cardiac Failure Caused by Recurrent De Novo Duplications in the ATAD3 Locus Frazier, Ann E.; Compton, Alison G.; Kishita, Yoshihito; Hock, Daniella H.; Welch, AnneMarie E.; Amarasekera, Sumudu S. C.; Rius, Rocio; Formosa, Luke E.; Imai-Okazaki, Atsuko; Francis, David; Wang, Min; Lake, Nicole J.; Tregoning, Simone; Jabbari, Jafar S.; Lucattini, Alexis; Nitta, Kazuhiro R.; Ohtake, Akira; Murayama, Kei; Amor, David J.; McGillivray, George; Wong, Flora Y.; van der Knaap, Marjo S.; Vermeulen, R. Jeroen; Wiltshire, Esko J.; Fletcher, Janice M.; Lewis, Barry; Baynam, Gareth; Ellaway, Carolyn; Balasubramaniam, Shanti; Bhattacharya, Kaustuv; Freckmann, Mary-Louise; Arbuckle, Susan; Rodriguez, Michael; Taft, Ryan J.; Sadedin, Simon; Cowley, Mark J.; Minoche, Andre E.; Calvo, Sarah E.; Mootha, Vamsi K.; Ryan, Michael T.; Okazaki, Yasushi; Stroud, David A.; Simons, Cas; Christodoulou, John; Thorburn, David R. Share Save
De novo missense variants in LMBRD2 are associated with developmental and motor delays, brain structure abnormalities and dysmorphic features Malhotra, Alka; Ziegler, Alban; Shu, Li; Perrier, Renee; Amlie-Wolf, Louise; Wohler, Elizabeth; Sobreira, Nara Lygia de Macena; Colin, Estelle; Vanderver, Adeline; Sherbini, Omar; Stouffs, Katrien; Scalais, Emmanuel; Serretti, Alessandro; Barth, Magalie; Navet, Benjamin; Rollier, Paul; Xi, Hui; Wang, Hua; Zhang, Hainan; Perry, Denise L.; Ferrarini, Alessandra; Colombo, Roberto; Pepler, Alexander; Schneider, Adele; Tomiwa, Kiyotaka; Okamoto, Nobuhiko; Matsumoto, Naomichi; Miyake, Noriko; Taft, Ryan; Mao, Xiao; Bonneau, Dominique Share Save
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