Not logged in De novo missense variants in exon 9 of SEPHS1 cause a neurodevelopmental condition with developmental delay, poor growth, hypotonia, and dysmorphic features (vol 111, pg 778, 2024) Mullegama, Sureni V.; Kiernan, Kaitlyn A.; Torti, Erin; Pavlovsky, Ethan; Tilton, Nicholas; Sekula, Austin; Gao, Hua; Alaimo, Joseph T.; Engleman, Kendra; Rush, Eric T.; Blocker, Karli; Dipple, Katrina M.; Fettig, Veronica M.; Hare, Heather; Glass, Ian; Grange, Dorothy K.; Griffin, Michael; Phornphutkul, Chanika; Massingham, Lauren; Mehta, Lakshmi; Miller, Danny E.; Thies, Jenny; Merritt, J. Lawrence; Muller, Eric; Osmond, Matthew; Sawyer, Sarah L.; Slaugh, Rachel; Hickey, Rachel E.; Wolf, Barry; Choudhary, Sanjeev; Simonovic, Miljan; Zhang, Yueqing; Palculict, Timothy Blake; Telegrafi, Aida; Carere, Deanna Alexis; Wentzensen, Ingrid M.; Morrow, Michelle M.; Monaghan, Kristin G.; Juusola, Jane; Yang, Jun Share Save
De novo missense variants in exon 9 of SEPHS1 cause a neurodevelopmental condition with developmental delay, poor growth, hypotonia, and dysmorphic features Mullegama, Sureni V.; Kiernan, Kaitlyn A.; Torti, Erin; Pavlovsky, Ethan; Tilton, Nicholas; Sekula, Austin; Gao, Hua; Alaimo, Joseph T.; Engleman, Kendra; Rush, Eric T.; Blocker, Karli; Dipple, Katrina M.; Fettig, Veronica M.; Hare, Heather; Glass, Ian; Grange, Dorothy K.; Griffin, Michael; Phornphutkul, Chanika; Massingham, Lauren; Mehta, Lakshmi; Miller, Danny E.; Thies, Jenny; Merritt II, J. Lawrence; Muller II, Eric; Osmond, Matthew; Sawyer, Sarah L.; Slaugh, Rachel; Hickey, Rachel E.; Wolf, Barry; Choudhary, Sanjeev; Simonovic, Miljan; Zhang, Yueqing; Palculict, Timothy Blake; Telegrafi, Aida; Carere, Deanna Alexis; Wentzensen, Ingrid M.; Morrow, Michelle M.; Monaghan, Kristin G.; Yang, Jun; Juusola, Jane 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
Macrocephaly and developmental delay caused by missense variants in RAB5C Koop, Klaas; Yuan, Weimin; Tessadori, Federico; Rodriguez-Polanco, Wilmer R.; Grubbs, Jeremy; Zhang, Bo; Osmond, Matt; Graham, Gail; Sawyer, Sarah; Conboy, Erin; Vetrini, Francesco; Treat, Kayla; Ploski, Rafal; Pienkowski, Victor Murcia; Klosowska, Anna; Fieg, Elizabeth; Krier, Joel; Mallebranche, Coralie; Alban, Ziegler; Aldinger, Kimberly A.; Ritter, Deborah; Macnamara, Ellen; Sullivan, Bonnie; Herriges, John; Alaimo, Joseph T.; Helbig, Catherine; Ellis, Colin A.; van Eyk, Clare; Gecz, Jozef; Farrugia, Daniel; Osei-Owusu, Ikeoluwa; Ades, Lesley; van den Boogaard, Marie-Jose; Fuchs, Sabine; Bakker, Jeroen; Duran, Karen; Dawson, Zachary D.; Lindsey, Anika; Huang, Huiyan; Baldridge, Dustin; Silverman, Gary A.; Grant, Barth D.; Raizen, David; van Haaften, Gijs; Pak, Stephen C.; Rehmann, Holger; Schedl, Tim; van Hasselt, Peter Share Save
Clinical Validation of Genome Reference Consortium Human Build 38 in a Laboratory Utilizing Next-Generation Sequencing Technologies Lansdon, Lisa A.; Cadieux-Dion, Maxime; Herriges, John C.; Johnston, Jeffrey; Yoo, Byunggil; Alaimo, Joseph T.; Thiffault, Isabelle; Miller, Neil; Cohen, Ana S. A.; Repnikova, Elena A.; Zhang, Lei; Farooqi, Midhat S.; Farrow, Emily G.; Saunders, Carol J. Share Save
Genomic answers for children: Dynamic analyses of >1000 pediatric rare disease genomes Cohen, Ana S. A.; Farrow, Emily G.; Abdelmoity, Ahmed T.; Alaimo, Joseph T.; Amudhavalli, Shivarajan M.; Anderson, John T.; Bansal, Lalit; Bartik, Lauren; Baybayan, Primo; Belden, Bradley; Berrios, Courtney D.; Biswell, Rebecca L.; Buczkowicz, Pawel; Buske, Orion; Chakraborty, Shreyasee; Cheung, Warren A.; Coffman, Keith A.; Cooper, Ashley M.; Cross, Laura A.; Curran, Tom; Dang, Thuy Tien T.; Elfrink, Mary M.; Engleman, Kendra L.; Fecske, Erin D.; Fieser, Cynthia; Fitzgerald, Keely; Fleming, Emily A.; Gadea, Randi N.; Gannon, Jennifer L.; Gelineau-Morel, Rose N.; Gibson, Margaret; Goldstein, Jeffrey; Grundberg, Elin; Halpin, Kelsee; Harvey, Brian S.; Heese, Bryce A.; Hein, Wendy; Herd, Suzanne M.; Hughes, Susan S.; Ilyas, Mohammed; Jacobson, Jill; Jenkins, Janda L.; Jiang, Shao; Johnston, Jeffrey J.; Keeler, Kathryn; Korlach, Jonas; Kussmann, Jennifer; Lambert, Christine; Lawson, Caitlin; Le Pichon, Jean-Baptiste; Leeder, James Steven; Little, Vicki C.; Louiselle, Daniel A.; Lypka, Michael; McDonald, Brittany D.; Miller, Neil; Modrcin, Ann; Nair, Annapoorna; Neal, Shelby H.; Oermann, Christopher M.; Pacicca, Donna M.; Pawar, Kailash; Posey, Nyshele L.; Price, Nigel; Puckett, Laura M. B.; Quezada, Julio F.; Raje, Nikita; Rowell, William J.; Rush, Eric; Sampath, Venkatesh; Saunders, Carol J.; Schwager, Caitlin; Schwend, Richard M.; Shaffer, Elizabeth; Smail, Craig; Soden, Sarah; Strenk, Meghan E.; Sullivan, Bonnie R.; Sweeney, Brooke R.; Tam-Williams, Jade B.; Walter, Adam M.; Welsh, Holly; Wenger, Aaron M.; Willig, Laurel K.; Yan, Yun; Younger, Scott T.; Zhou, Dihong; Zion, Tricia N.; Thiffault, Isabelle; Pastinen, Tomi Share Save
Factors Affecting Migration to GRCh38 in Laboratories Performing Clinical Next-Generation Sequencing Lansdon, Lisa A.; Cadieux-Dion, Maxime; Yoo, Byunggil; Miller, Neil; Cohen, Ana S. A.; Zellmer, Lee; Zhang, Lei; Farrow, Emily G.; Thiffault, Isabelle; Repnikova, Elena A.; Cooley, Linda D.; Alaimo, Joseph T.; Porath, Binu; Herriges, John C.; Saunders, Carol J.; Farooqi, Midhat S. Share Save
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A second cohort of CHD3 patients expands the molecular mechanisms known to cause Snijders Blok-Campeau syndrome Drivas, Theodore G.; Li, Dong; Nair, Divya; Alaimo, Joseph T.; Alders, Marielle; Altmueller, Janine; Barakat, Tahsin Stefan; Bebin, E. Martina; Bertsch, Nicole L.; Blackburn, Patrick R.; Blesson, Alyssa; Bouman, Arjan M.; Brockmann, Knut; Brunelle, Perrine; Burmeister, Margit; Cooper, Gregory M.; Denecke, Jonas; Dieux-Coeslier, Anne; Dubbs, Holly; Ferrer, Alejandro; Gal, Danna; Bartik, Lauren E.; Gunderson, Lauren B.; Hasadsri, Linda; Jain, Mahim; Karimov, Catherine; Keena, Beth; Klee, Eric W.; Kloth, Katja; Lace, Baiba; Macchiaiolo, Marina; Marcadier, Julien L.; Milunsky, Jeff M.; Napier, Melanie P.; Ortiz-Gonzalez, Xilma R.; Pichurin, Pavel N.; Pinner, Jason; Powis, Zoe; Prasad, Chitra; Radio, Francesca Clementina; Rasmussen, Kristen J.; Renaud, Deborah L.; Rush, Eric T.; Saunders, Carol; Selcen, Duygu; Seman, Ann R.; Shinde, Deepali N.; Smith, Erica D.; Smol, Thomas; Blok, Lot Snijders; Stoler, Joan M.; Tang, Sha; Tartaglia, Marco; Thompson, Michelle L.; van de Kamp, Jiddeke M.; Wang, Jingmin; Weise, Dagmar; Weiss, Karin; Woitschach, Rixa; Wollnik, Bernd; Yan, Huifang; Zackai, Elaine H.; Zampino, Giuseppe; Campeau, Philippe; Bhoj, Elizabeth Share Save
Pathogenic Bi-allelic Mutations in NDUFAF8 Cause Leigh Syndrome with an Isolated Complex I Deficiency Alston, Charlotte L.; Veling, Mike T.; Heidler, Juliana; Taylor, Lucie S.; Alaimo, Joseph T.; Sung, Andrew Y.; He, Langping; Hopton, Sila; Broomfield, Alexander; Pavaine, Julija; Diaz, Jullianne; Leon, Eyby; Wolf, Philipp; McFarland, Robert; Prokisch, Holger; Wortmann, Saskia B.; Bonnen, Penelope E.; Wittig, Ilka; Pagliarini, David J.; Taylor, Robert W. Share Save
Loss-of-function mutations in ISCA2 disrupt 4Fe-4S cluster machinery and cause a fatal leukodystrophy with hyperglycinemia and mtDNA depletion Alaimo, Joseph T.; Besse, Arnaud; Alston, Charlotte L.; Pang, Ki; Appadurai, Vivek; Samanta, Monisha; Smpokou, Patroula; McFarland, Robert; Taylor, Robert W.; Bonnen, Penelope E. Share Save
Functional analysis of novel DEAF1 variants identified through clinical exome sequencing expands DEAF1-associated neurodevelopmental disorder (DAND) phenotype Chen, Li; Jensik, Philip J.; Alaimo, Joseph T.; Walkiewicz, Magdalena; Berger, Seth; Roeder, Elizabeth; Faqeih, Eissa A.; Bernstein, Jonathan A.; Smith, Ann C. M.; Mullegama, Sureni V.; Saffen, David W.; Elsea, Sarah H. Share Save
Smith-Magenis Syndrome Patients Often Display Antibody Deficiency but Not Other Immune Pathologies Perkins, Tiffany; Rosenberg, Jacob M.; Le Coz, Carole; Alaimo, Joseph T.; Trofa, Melissa; Mullegama, Sureni V.; Antaya, Richard J.; Jyonouchi, Soma; Elsea, Sarah H.; Utz, Paul J.; Meffre, Eric; Romberg, Neil Share Save
Genomewide Association Study of Alcohol Dependence Identifies Risk Loci Altering Ethanol-Response Behaviors in Model Organisms Adkins, Amy E.; Hack, Laura M.; Bigdeli, Tim B.; Williamson, Vernell S.; McMichael, G. Omari; Mamdani, Mohammed; Edwards, Alexis C.; Aliev, Fazil; Chan, Robin F.; Bhandari, Poonam; Raabe, Richard C.; Alaimo, Joseph T.; Blackwell, GinaMari G.; Moscati, Arden; Poland, Ryan S.; Rood, Benjamin; Patterson, Diana G.; Walsh, Dermot; Whitfield, John B.; Zhu, Gu; Montgomery, Grant W.; Henders, Anjali K.; Martin, Nicholas G.; Heath, Andrew C.; Madden, Pamela A. F.; Frank, Josef; Ridinger, Monika; Wodarz, Norbert; Soyka, Michael; Zill, Peter; Ising, Marcus; Noethen, Markus M.; Kiefer, Falk; Rietschel, Marcella; Gelernter, Joel; Sherva, Richard; Koesterer, Ryan; Almasy, Laura; Zhao, Hongyu; Kranzler, Henry R.; Farrer, Lindsay A.; Maher, Brion S.; Prescott, Carol A.; Dick, Danielle M.; Bacanu, Silviu A.; Mathies, Laura D.; Davies, Andrew G.; Vladimirov, Vladimir I.; Grotewiel, Mike; Bowers, M. Scott; Bettinger, Jill C.; Webb, Bradley T.; Miles, Michael F.; Kendler, Kenneth S.; Riley, Brien P. Share Save
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