Not logged inIdentification of de novo variants in KCTD10 as a proposed cause for multiple congenital anomalies
Morrow, Michelle M.; Torti, Erin; McGivern, Bobbi; Gates, Ryan; Bekheirnia, Mir Reza; Bekheirnia, Nasim; Folk, Leandra; Holtrop, Shannon; Palculict, Timothy Blake; Redlich, Olivia L.; Reich, Adi; Sacoto, Maria J. Guillen; Shi, Lisong; Wentzensen, Ingrid M.; Mcwalter, Kirsty .png)
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SaveDe 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 featuresMullegama, 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 Recommendations for risk allele evidence curation, classification, and reporting from the ClinGen Low Penetrance/Risk Allele Working GroupSchmidt, Ryan J.; Steeves, Marcie; Bayrak-Toydemir, Pinar; Benson, Katherine A.; Coe, Bradley P.; Conlin, Laura K.; Ganapathi, Mythily; Garcia, John; Gollob, Michael H.; Jobanputra, Vaidehi; Luo, Minjie; Ma, Deqiong; Maston, Glenn; Mcgoldrick, Kelly; Palculict, T. Blake; Pesaran, Tina; Pollin, Toni I.; Qian, Emily; Rehm, Heidi L.; Riggs, Erin R.; Schilit, Samantha L. P.; Sergouniotis, Panagiotis I.; Tvrdik, Tatiana; Watkins, Nicholas; Zec, Lauren; Zhang, Wenying; Lebo, Matthew S. Share Save De Novo Variants in RAB11B Cause Various Degrees of Global Developmental Delay and Intellectual Disability in ChildrenAhmad, Natalie; Fazeli, Walid; Schliesske, Sophia; Lesca, Gaetan; Gokce-Samar, Zeynep; Mekbib, Kedous Y.; Jin, Sheng Chih; Burton, Jennifer; Hoganson, George; Petersen, Andrea; Gracie, Sara; Granger, Leslie; Bartels, Enrika; Oppermann, Henry; Kundishora, Adam; Till, Marianne; Milleret-Pignot, Clara; Danger, Shane; Viskochil, David; Anderson, Katherine J.; Palculict, Timothy Blake; Schnur, Rhonda E.; Wentzensen, Ingrid M.; Tiller, George E.; Kahle, Kristopher T.; Kunz, Wolfram S.; Burkart, Sebastian; Simons, Matias; Sticht, Heinrich; Abou Jamra, Rami; Neuser, Sonja Share Save Biallelic MED27 variants lead to variable ponto-cerebello-lental degeneration with movement disordersMaroofian, Reza; Kaiyrzhanov, Rauan; Cali, Elisa; Zamani, Mina; Zaki, Maha S.; Ferla, Matteo; Tortora, Domenico; Sadeghian, Saeid; Saadi, Saadia Maryam; Abdullah, Uzma; Karimiani, Ehsan Ghayoor; Efthymiou, Stephanie; Yesil, Goezde; Alavi, Shahryar; Al Shamsi, Aisha M.; Tajsharghi, Homa; Abdel-Hamid, Mohamed S.; Saadi, Nebal Waill; Al Mutairi, Fuad; Alabdi, Lama; Beetz, Christian; Ali, Zafar; Toosi, Mehran Beiraghi; Rudnik-Schoeneborn, Sabine; Babaei, Meisam; Isohanni, Pirjo; Muhammad, Jameel; Khan, Sheraz; Al Shalan, Maha; Hickey, Scott E.; Marom, Daphna; Elhanan, Emil; Kurian, Manju A.; Marafi, Dana; Saberi, Alihossein; Hamid, Mohammad; Spaull, Robert; Meng, Linyan; Lalani, Seema; Maqbool, Shazia; Rahman, Fatima; Seeger, Juergen; Palculict, Timothy Blake; Lau, Tracy; Murphy, David; Mencacci, Niccolo Emanuele; Steindl, Katharina; Begemann, Anais; Rauch, Anita; Akbas, Sinan; Aslanger, Ayca Dilruba; Salpietro, Vincenzo; Yousaf, Hammad; Ben-Shachar, Shay; Ejeskaer, Katarina; Al Aqeel, Aida, I; High, Frances A.; Armstrong-Javors, Amy E.; Zahraei, Seyed Mohammadsaleh; Seifi, Tahereh; Zeighami, Jawaher; Shariati, Gholamreza; Sedaghat, Alireza; Asl, Samaneh Noroozi; Shahrooei, Mohmmad; Zifarelli, Giovanni; Burglen, Lydie; Ravelli, Claudia; Zschocke, Johannes; Schatz, Ulrich A.; Ghavideldarestani, Maryam; Kamel, Walaa A.; Van Esch, Hilde; Hackenberg, Annette; Taylor, Jenny C.; Al-Gazali, Lihadh; Bauer, Peter; Gleeson, Joseph J.; Alkuraya, Fowzan Sami; Lupski, James R.; Galehdari, Hamid; Azizimalamiri, Reza; Chung, Wendy K.; Baig, Shahid Mahmood; Houlden, Henry; Severino, Mariasavina Share Save LHX2 haploinsufficiency causes a variable neurodevelopmental disorderSchmid, Cosima M.; Gregor, Anne; Costain, Gregory; Morel, Chantal F.; Massingham, Lauren; Schwab, Jennifer; Quelin, Chloe; Faoucher, Marie; Kaplan, Julie; Procopio, Rebecca; Saunders, Carol J.; Cohen, Ana S. A.; Lemire, Gabrielle; Sacharow, Stephanie; O'Donnell-Luria, Anne; Segal, Ranit Jaron; Shamshoni, Jessica Kianmahd; Schweitzer, Daniela; Ebrahimi-Fakhari, Darius; Monaghan, Kristin; Palculict, Timothy Blake; Napier, Melanie P.; Tao, Alice; Isidor, Bertrand; Moradkhani, Kamran; Reis, Andre; Sticht, Heinrich; Chung, Wendy K.; Zweier, Christiane Share Save AMFR dysfunction causes autosomal recessive spastic paraplegia in human that is amenable to statin treatment in a preclinical modelDeng, Ruizhi; Medico-Salsench, Eva; Nikoncuk, Anita; Ramakrishnan, Reshmi; Lanko, Kristina; Kuhn, Nikolas A.; van der Linde, Herma C.; Lor-Zade, Sarah; Albuainain, Fatimah; Shi, Yuwei; Yousefi, Soheil; Capo, Ivan; van den Herik, Evita Medici; van Slegtenhorst, Marjon; van Minkelen, Rick; Geeven, Geert; Mulder, Monique T.; Ruijter, George J. G.; Luetjohann, Dieter; Jacobs, Edwin H.; Houlden, Henry; Pagnamenta, Alistair T.; Metcalfe, Kay; Jackson, Adam; Banka, Siddharth; De Simone, Lenika; Schwaede, Abigail; Kuntz, Nancy; Palculict, Timothy Blake; Abbas, Safdar; Umair, Muhammad; AlMuhaizea, Mohammed; Colak, Dilek; AlQudairy, Hanan; Alsagob, Maysoon; Pereira, Catarina; Trunzo, Roberta; Karageorgou, Vasiliki; Bertoli-Avella, Aida M.; Bauer, Peter; Bouman, Arjan; Hoefsloot, Lies H.; van Ham, Tjakko J.; Issa, Mahmoud; Zaki, Maha S.; Gleeson, Joseph G.; Willemsen, Rob; Kaya, Namik; Arold, Stefan T.; Maroofian, Reza; Sanderson, Leslie E.; Barakat, Tahsin Stefan Share Save Rare EIF4A2 variants are associated with a neurodevelopmental disorder characterized by intellectual disability, hypotonia, and epilepsy (vol 110, pg 120, 2023)Paul, Maimuna S.; Duncan, Anna R.; Genetti, Casie A.; Pan, Hongling; Jackson, Adam; Grant, Patricia E.; Shi, Jiahai; Pinelli, Michele; Brunetti-Pierri, Nicola; Garza-Flores, Alexandra; Shahani, Dave; Saneto, Russell P.; Zampino, Giuseppe; Leoni, Chiara; Agolini, Emanuele; Novelli, Antonio; Haack, B. Ulrike Blumlein Tobias B.; Heinritz, Wolfram; Matzker, Eva; Alhaddad, Bader; Abou Jamra, Rami; Bartolomaeus, Tobias; AlHamdan, Saber; Carapito, Raphael; Isidor, Bertrand; Bahram, Seiamak; Ritter, Alyssa; Izumi, Kosuke; Shakked, Ben Pode; Barel, Ortal; Ben Zeev, Bruria; Begtrup, Amber; Carere, Deanna Alexis; Mullegama, Sureni V.; Palculict, Timothy Blake; Calame, Daniel G.; Schwan, Katharina; Aycinena, Alicia R. P.; Traberg, Rasa; Douzgou, Sofia; Pirt, Harrison; Ismayilova, Naila; Banka, Siddharth; Chao, Hsiao-Tuan; Agrawal, Pankaj B. Share Save Rare EIF4A2 variants are associated with a neurodevelopmental disorder characterized by intellectual disability, hypotonia, and epilepsyPaul, Maimuna S.; Duncan, Anna R.; Genetti, Casie A.; Pan, Hongling; Jackson, Adam; Grant, Patricia E.; Shi, Jiahai; Pinelli, Michele; Brunetti-Pierri, Nicola; Garza-Flores, Alexandra; Shahani, Dave; Saneto, Russell P.; Zampino, Giuseppe; Leoni, Chiara; Agolini, Emanuele; Novelli, Antonio; Bluemlein, Ulrike; Haack, Tobias B.; Heinritz, Wolfram; Matzker, Eva; Alhaddad, Bader; Abou Jamra, Rami; Bartolomaeus, Tobias; AlHamdan, Saber; Carapito, Raphael; Isidor, Bertrand; Bahram, Seiamak; Ritter, Alyssa; Izumi, Kosuke; Shakked, Ben Pode; Barel, Ortal; Ben Zeev, Bruria; Begtrup, Amber; Carere, Deanna Alexis; Mullegama, Sureni, V; Palculict, Timothy Blake; Calame, Daniel G.; Schwan, Katharina; Aycinena, Alicia R. P.; Traberg, Rasa; Douzgou, Sofia; Pirt, Harrison; Ismayilova, Naila; Banka, Siddharth; Chao, Hsiao-Tuan; Agrawal, Pankaj B. Share Save De Novo ZMYND8 variants result in an autosomal dominant neurodevelopmental disorder with cardiac malformationsDias, Kerith-Rae; Carlston, Colleen M.; Blok, Laura E. R.; De Hayr, Lachlan; Nawaz, Urwah; Evans, Carey-Anne; Bayrak-Toydemir, Pinar; Htun, Stephanie; Zhu, Ying; Ma, Alan; Lynch, Sally Ann; Moorwood, Catherine; Stals, Karen; Ellard, Sian; Bainbridge, Matthew N.; Friedman, Jennifer; Pappas, John G.; Rabin, Rachel; Nowak, Catherine B.; Douglas, Jessica; Wilson, Theodore E.; Sacoto, Maria J. Guillen; Mullegama, Sureni, V; Palculict, Timothy Blake; Kirk, Edwin P.; Pinner, Jason R.; Edwards, Matthew; Montanari, Francesca; Graziano, Claudio; Pippucci, Tommaso; Dingmann, Bri; Glass, Ian; Mefford, Heather C.; Shimoji, Takeyoshi; Suzuki, Toshimitsu; Yamakawa, Kazuhiro; Streff, Haley; Schaaf, Christian P.; Slavotinek, Anne M.; Voineagu, Irina; Carey, John C.; Buckley, Michael F.; Schenck, Annette; Harvey, Robert J.; Roscioli, Tony Share Save Biallelic variants in KARS1 are associated with neurodevelopmental disorders and hearing loss recapitulated by the knockout zebrafishLin, Sheng-Jia; Vona, Barbara; Barbalho, Patricia G.; Kaiyrzhanov, Rauan; Maroofian, Reza; Petree, Cassidy; Severino, Mariasavina; Stanley, Valentina; Varshney, Pratishtha; Bahena, Paulina; Alzahrani, Fatema; Alhashem, Amal; Pagnamenta, Alistair T.; Aubertin, Gudrun; Estrada-Veras, Juvianee I.; Hernandez, Hector Adrian Diaz; Mazaheri, Neda; Oza, Andrea; Thies, Jenny; Renaud, Deborah L.; Dugad, Sanmati; McEvoy, Jennifer; Sultan, Tipu; Pais, Lynn S.; Tabarki, Brahim; Villalobos-Ramirez, Daniel; Rad, Aboulfazl; Galehdari, Hamid; Ashrafzadeh, Farah; Sahebzamani, Afsaneh; Saeidi, Kolsoum; Torti, Erin; Elloumi, Houda Z.; Mora, Sara; Palculict, Timothy B.; Yang, Hui; Wren, Jonathan D.; Fowler, Ben; Joshi, Manali; Behra, Martine; Burgess, Shawn M.; Nath, Swapan K.; Hanna, Michael G.; Kenna, Margaret; Merritt, J. Lawrence, II; Houlden, Henry; Karimiani, Ehsan Ghayoor; Zaki, Maha S.; Haaf, Thomas; Alkuraya, Fowzan S.; Gleeson, Joseph G.; Varshney, Gaurav K. Share Save EIF3F-related neurodevelopmental disorder: refining the phenotypic and expanding the molecular spectrumHueffmeier, Ulrike; Kraus, Cornelia; Reuter, Miriam S.; Uebe, Steffen; Abbott, Mary-Alice; Ahmed, Syed A.; Rawson, Kristyn L.; Barr, Eileen; Li, Hong; Bruel, Ange-Line; Faivre, Laurence; Mau-Them, Frederic Tran; Botti, Christina; Brooks, Susan; Burns, Kaitlyn; Ward, D. Isum; Dutra-Clarke, Marina; Martinez-Agosto, Julian A.; Lee, Hane; Nelson, Stanley F.; Zacher, Pia; Abou Jamra, Rami; Kloeckner, Chiara; McGaughran, Julie; Kohlhase, Juergen; Schuhmann, Sarah; Moran, Ellen; Pappas, John; Raas-Rothschild, Annick; Sacoto, Maria J. Guillen; Henderson, Lindsay B.; Palculict, Timothy Blake; Mullegama, Sureni, V; Elloumi, Houda Zghal; Reich, Adi; Vergano, Samantha A. Schrier; Wahl, Erica; Reis, Andre; Zweier, Christiane Share Save Mutation-specific pathophysiological mechanisms define different neurodevelopmental disorders associated with SATB1 dysfunctionden Hoed, Joery; de Boer, Elke; Voisin, Norine; Dingemans, Alexander J. M.; Guex, Nicolas; Wiel, Laurens; Nellaker, Christoffer; Amudhavalli, Shivarajan M.; Banka, Siddharth; Bena, Frederique S.; Ben-Zeev, Bruria; Bonagura, Vincent R.; Bruel, Ange-Line; Brunet, Theresa; Brunner, Han G.; Chew, Hui B.; Chrast, Jacqueline; Cimbalistiene, Loreta; Coon, Hilary; Delot, Emmanuelle C.; Demurger, Florence; Denomme-Pichon, Anne-Sophie; Depienne, Christel; Donnai, Dian; Dyment, David A.; Elpeleg, Orly; Faivre, Laurence; Gilissen, Christian; Granger, Leslie; Haber, Benjamin; Hachiya, Yasuo; Abedi, Yasmin Hamzavi; Hanebeck, Jennifer; Hehir-Kwa, Jayne Y.; Horist, Brooke; Itai, Toshiyuki; Jackson, Adam; Jewell, Rosalyn; Jones, Kelly L.; Joss, Shelagh; Kashii, Hirofumi; Kato, Mitsuhiro; Kattentidt-Mouravieva, Anja A.; Kok, Fernando; Kotzaeridou, Urania; Krishnamurthy, Vidya; Kucinskas, Vaidutis; Kuechler, Alma; Lavillaureix, Alinoe; Liu, Pengfei; Manwaring, Linda; Matsumoto, Naomichi; Mazel, Benoit; McWalter, Kirsty; Meiner, Vardiella; Mikati, Mohamad A.; Miyatake, Satoko; Mizuguchi, Takeshi; Moey, Lip H.; Mohammed, Shehla; Mor-Shaked, Hagar; Mountford, Hayley; Newbury-Ecob, Ruth; Odent, Sylvie; Orec, Laura; Osmond, Matthew; Palculict, Timothy B.; Parker, Michael; Petersen, Andrea K.; Pfundt, Rolph; Preiksaitiene, Egle; Radtke, Kelly; Ranza, Emmanuelle; Rosenfeld, Jill A.; Santiago-Sim, Teresa; Schwager, Caitlin; Sinnema, Margje; Blok, Lot Snijders; Spillmann, Rebecca C.; Stegmann, Alexander P. A.; Thiffault, Isabelle; Linh Tran; Vaknin-Dembinsky, Adi; Vedovato-dos-Santos, Juliana H.; Vergano, Samantha A. Schrier; Vilain, Eric; Vitobello, Antonio; Wagner, Matias; Waheeb, Androu; Willing, Marcia; Zuccarelli, Britton; Kini, Usha; Newbury, Dianne F.; Kleefstra, Tjitske; Reymond, Alexandre; Fisher, Simon E.; Vissers, Lisenka E. L. M. Share Save De novo variants in SIAH1, encoding an E3 ubiquitin ligase, are associated with developmental delay, hypotonia and dysmorphic featuresBuratti, Julien; Ji, Lei; Keren, Boris; Lee, Youngha; Booke, Stephanie; Erdin, Serkan; Kim, Soo Yeon; Palculict, Timothy Blake; Meiner, Vardiella; Chae, Jong Hee; Woods, Christopher Geoffrey; Tam, Allison; Heron, Delphine; Cong, Feng; Harel, Tamar Share Save Share Save Hypoxia Triggers Hedgehog-Mediated Tumor-Stromal Interactions in Pancreatic CancerSpivak-Kroizman, Taly R.; Hostetter, Galen; Posner, Richard; Aziz, Meraj; Hu, Chengcheng; Demeure, Michael J.; Von Hoff, Daniel; Hingorani, Sunil R.; Palculict, Timothy B.; Izzo, Julie; Kiriakova, Galina M.; Abdelmelek, Mena; Bartholomeusz, Geoffrey; James, Brian P.; Powis, Garth Share Save Rare variant detection using family-based sequencing analysisPeng, Gang; Fan, Yu; Palculict, Timothy B.; Shen, Peidong; Ruteshouser, E. Cristy; Chi, Aung-Kyaw; Davis, Ronald W.; Huff, Vicki; Scharfe, Curt; Wang, Wenyi Share Save Stromel desmoplasia is induced by a hypoxia and HIF-1α mediated increase in sonic hedgehog formation in pancreatic cancerSpivak-Kroizman, Taly R.; Hostetter, Galen; Posner, Richard; Aziz, Meraj; Hu, Chengcheng; Demeure, Michael; Von Hoff, Daniel; Hingorani, Sunil; Palculict, Timothy B.; Abdelmelek, Mena; Bartholomeusz, Geoffrey; James, Brian P.; Powis, Garth Share Save 
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