未登录 CERT1 mutations perturb human development by disrupting sphingolipid homeostasis (Vol 135, e200195, 2025) Gehin, Charlotte; Lone, Museer A.; Lee, Winston; Capolupo, Laura; Ho, Sylvia; Adeyemi, Adekemi M.; Gerkes, Erica H.; Stegmann, Alexander P. A.; Lopez-Martin, Estrella; Bermejo-Sanchez, Eva; Martinez-Delgado, Beatriz; Zweier, Christiane; Kraus, Cornelia; Popp, Bernt; Strehlow, Vincent; Grafe, Daniel; Knerr, Ina; Jones, Eppie R.; Zamuner, Stefano; Abriata, Luciano A.; Kunnathully, Vidya; Moeller, Brandon E.; Vocat, Anthony; Rommelaere, Samuel; Bocquete, Jean-Philippe; Ruchti, Evelyne; Limoni, Greta; Van Campenhoudt, Marine; Bourgeat, Samuel; Henklein, Petra; Gilissen, Christian; Van Bon, Bregje W.; Pfundt, Rolph; Willemsen, Marjolein H.; Schieving, Jolanda H.; Leonardi, Emanuela; Soli, Fiorenza; Murgia, Alessandra; Guo, Hui; Zhang, Qiumeng; Xia, Kun; Fagerberg, Christina R.; Beier, Christoph P.; Larsen, Martin J.; Valenzuela, Irene; Fernandez-Alvarez, Paula; Xiong, Shiyi; Smigiel, Robert; Lopez-Gonzalez, Vanesa; Armengol, Lluis; Morleo, Manuela; Selicorni, Angelo; Torella, Annalaura; Blyth, Moira; Cooper, Nicola S.; Wilson, Valerie; Oegema, Renske; Herenger, Yvan; Garde, Aurore; Bruel, Ange-Line; Mau-Them, Frederic Tran; Maddocks, Alexis B. R.; Bain, Jennifer M.; Bhat, Musadiq A.; Costain, Gregory; Kannu, Peter; Marwaha, Ashish; Champaigne, Neena L.; Friez, Michael J.; Richardson, Ellen B.; Gowda, Vykuntaraju K.; Srinivasan, Varunvenkat M.; Gupta, Yask; Lim, Tze Y.; Sanna-Cherchi, Simone; Lemaitre, Bruno; Yamaji, Toshiyuki; Hanada, Kentaro; Burke, John E.; Jaksic, Ana Marija; Mccabe, Brian D.; De Los Rios, Paolo; Hornemann, Thorsten; D'angelo, Giovanni; Gennarino, Vincenzo A. 分享 收藏
A novel approach to metabolic profiling in case models of MECP2-related disorders Coleman, Jessica A. Cooley; Moffitt, Bridgette A.; Bridges, William C.; Jones, Kelly; May, Melanie; Skinner, Cindy; Friez, Michael J.; Skinner, Steven A.; Schwartz, Charles E.; Boccuto, Luigi 分享 收藏
Heterozygous ZNHIT3 variants within the 17q12 recurrent deletion region are associated with Mayer-Rokitansky-Kuster Hauser (MRKH) syndrome Brakta, Soumia; Du, Quansheng; Chorich, Lynn P.; Hawkins, Zoe A.; Sullivan, Megan E.; Ko, Eun Kyung; Kim, Hyung-Goo; Knight, James; Taylor, Hugh S.; Friez, Michael; Phillips, John A.; Layman, Lawrence C. 分享 收藏
Diagnostic utility and reporting recommendations for clinical DNA methylation episignature testing in rare diseases Kerkhof, Jennifer; Rastin, Cassandra; Levy, Michael A.; Relator, Raissa; McConkey, Haley; Demain, Leigh; Dominguez-Garrido, Elena; Kaat, Laura Donker; Houge, Sofia Douzgo; DuPont, Barbara R.; Fee, Timothy; Fletcher, Robin S.; Gokhale, David; Haukanes, Bjorn Ivar; Henneman, Peter; Hilton, Sarah; Hilton, Benjamin A.; Jenkinson, Sarah; Lee, Jennifer A.; Louie, Raymond J.; Motazacker, M. Mahdi; Rzasa, Jessica; Stevenson, Roger E.; Plomp, Astrid; van der Laan, Liselot; van der Smagt, Jasper; Walden, Kellie K.; Banka, Siddharth; Mannens, Marcel; Skinner, Steven A.; Friez, Michael J.; Campbell, Christopher; Tedder, Matthew L.; Alders, Marielle; Sadikovic, Bekim 分享 收藏
PTCHD1 gene mutation/deletion: the cognitive-behavioral phenotyping of four case reports (vol 14, 1327802, 2024) Montanaro, Federica Alice Maria; Mandarino, Alessandra; Alesi, Viola; Schwartz, Charles; Sepulveda, Daniela Judith Claps; Skinner, Cindy; Friez, Michael; Piccolo, Gabriele; Novelli, Antonio; Zanni, Ginevra; Dentici, Maria Lisa; Vicari, Stefano; Alfieri, Paolo 分享 收藏
PTCHD1 gene mutation/deletion: the cognitive-behavioral phenotyping of four case reports Montanaro, Federica Alice Maria; Mandarino, Alessandra; Alesi, Viola; Schwartz, Charles; Sepulveda, Daniela Judith Claps; Skinner, Cindy; Friez, Michael; Piccolo, Gabriele; Novelli, Antonio; Zanni, Ginevra; Dentici, Maria Lisa; Vicari, Stefano; Alfieri, Paolo 分享 收藏
Clinical findings and a DNA methylation signature in kindreds with alterations in ZNF711 Wang, Jiyong; Foroutan, Aidin; Richardson, Ellen; Skinner, Steven A.; Reilly, Jack; Kerkhof, Jennifer; Curry, Cynthia J.; Tarpey, Patrick S.; Robertson, Stephen P.; Maystadt, Isabelle; Keren, Boris; Dixon, Joanne W.; Skinner, Cindy; Stapleton, Rachel; Ruaud, Lyse; Gumus, Evren; Lakeman, Phillis; Alders, Marielle; Tedder, Matthew L.; Schwartz, Charles E.; Friez, Michael J.; Sadikovic, Bekim; Stevenson, Roger E. 分享 收藏
CERT1 mutations perturb human development by disrupting sphingolipid homeostasis Gehin, Charlotte; Lone, Museer A.; Lee, Winston; Capolupo, Laura; Ho, Sylvia; Adeyemi, Adekemi M.; Gerkes, Erica H.; Stegmann, Alexander P. A.; Lopez-Martin, Estrella; Bermejo-Sanchez, Eva; Martinez-Delgado, Beatriz; Zweier, Christiane; Kraus, Cornelia; Popp, Bernt; Strehlow, Vincent; Graefe, Daniel; Knerr, Ina; Jones, Eppie R.; Zamuner, Stefano; Abriata, Luciano A.; Kunnathully, Vidya; Moeller, Brandon E.; Vocat, Anthony; Rommelaere, Samuel; Bocquete, Jean-Philippe; Ruchti, Evelyne; Limoni, Greta; Van Campenhoudt, Marine; Bourgeat, Samuel; Henklein, Petra; Gilissen, Christian; Bon, Bregje W. van; Pfundt, Rolph; Willemsen, Marjolein H.; Schieving, Jolanda H.; Leonardi, Emanuela; Soli, Fiorenza; Murgia, Alessandra; Guo, Hui; Zhang, Qiumeng; Xia, Kun; Fagerberg, Christina R.; Beier, Christoph P.; Larsen, Martin J.; Valenzuela, Irene; Fernandez-alvarez, Paula; Xiong, Shiyi; Smigiel, Robert; Lopez-Gonzalez, Vanesa; Armengol, Lluis; Morleo, Manuela; Selicorni, Angelo; Torella, Annalaura; Blyth, Moira; Cooper, Nicola S.; Wilson, Valerie; Oegema, Renske; Herenger, Yvan; Garde, Aurore; Bruel, Ange-Line; Mau-Them, Frederic Tran; Maddocks, Alexis B. R.; Bain, Jennifer M.; Bhat, Musadiq A.; Costain, Gregory; Kannu, Peter; Marwaha, Ashish; Champaigne, Neena L.; Friez, Michael J.; Richardson, Ellen B.; Gowda, Vykuntaraju K.; Srinivasan, Varunvenkat M.; Gupta, Yask; Lim, Tze Y.; Sanna-Cherchi, Simone; Lemaitre, Bruno; Yamaji, Toshiyuki; Hanada, Kentaro; Burke, John E.; Jaksic, Ana Marjia; McCabe, Brian D.; Rios, Paolo De Los; Hornemann, Thorsten; D'Angelo, Giovanni; Gennarino, Vincenzo A. 分享 收藏
Rare pathogenic variants in WNK3 cause X-linked intellectual disability WNK3中罕见的致病变异导致X连锁智力障碍 Kury, Sebastien; Zhang, Jinwei; Besnard, Thomas; Caro-Llopis, Alfonso; Zeng, Xue; Robert, Stephanie M.; Josiah, Sunday S.; Kiziltug, Emre; Denomme-Pichon, Anne-Sophie; Cogne, Benjamin; Kundishora, Adam J.; Hao, Le T.; Li, Hong; Stevenson, Roger E.; Louie, Raymond J.; Deb, Wallid; Torti, Erin; Vignard, Virginie; McWalter, Kirsty; Raymond, F. Lucy; Rajabi, Farrah; Ranza, Emmanuelle; Grozeva, Detelina; Coury, Stephanie A.; Blanc, Xavier; Brischoux-Boucher, Elise; Keren, Boris; Ounap, Katrin; Reinson, Karit; Ilves, Pilvi; Wentzensen, Ingrid M.; Barr, Eileen E.; Guihard, Solveig Heide; Charles, Perrine; Seaby, Eleanor G.; Monaghan, Kristin G.; Rio, Marlene; van Bever, Yolande; van Slegtenhorst, Marjon; Chung, Wendy K.; Wilson, Ashley; Quinquis, Delphine; Breheret, Flora; Retterer, Kyle; Lindenbaum, Pierre; Scalais, Emmanuel; Rhodes, Lindsay; Stouffs, Katrien; Pereira, Elaine M.; Berger, Sara M.; Milla, Sarah S.; Jaykumar, Ankita B.; Cobb, Melanie H.; Panchagnula, Shreyas; Duy, Phan Q.; Vincent, Marie; Mercier, Sandra; Gilbert-Dussardier, Brigitte; Le Guillou, Xavier; Audebert-Bellanger, Severine; Odent, Sylvie; Schmitt, Sebastien; Boisseau, Pierre; Bonneau, Dominique; Toutain, Annick; Colin, Estelle; Pasquier, Laurent; Redon, Richard; Bouman, Arjan; Rosenfeld, Jill A.; Friez, Michael J.; Perez-Pena, Helena; Rizvi, Syed Raza Akhtar; Haider, Shozeb; Antonarakis, Stylianos E.; Schwartz, Charles E.; Martinez, Francisco; Bezieau, Stephane; Kahle, Kristopher T.; Isidor, Bertrand 分享 收藏
Functional correlation of genome-wide DNA methylation profiles in genetic neurodevelopmental disorders 遗传性神经发育障碍全基因组DNA甲基化谱的功能相关性 Levy, Michael A.; Relator, Raissa; McConkey, Haley; Pranckeviciene, Erinija; Kerkhof, Jennifer; Barat-Houari, Mouna; Bargiacchi, Sara; Biamino, Elisa; Bralo, Maria Palomares; Cappuccio, Gerarda; Ciolfi, Andrea; Clarke, Angus; DuPont, Barbara R.; Elting, Mariet W.; Faivre, Laurence; Fee, Timothy; Ferilli, Marco; Fletcher, Robin S.; Cherick, Florian; Foroutan, Aidin; Friez, Michael J.; Gervasini, Cristina; Haghshenas, Sadegheh; Hilton, Benjamin A.; Jenkins, Zandra; Kaur, Simranpreet; Lewis, Suzanne; Louie, Raymond J.; Maitz, Silvia; Milani, Donatella; Morgan, Angela T.; Oegema, Renske; Ostergaard, Elsebet; Pallares, Nathalie R.; Piccione, Maria; Plomp, Astrid S.; Poulton, Cathryn; Reilly, Jack; Rius, Rocio; Robertson, Stephen; Rooney, Kathleen; Rousseau, Justine; Santen, Gijs W. E.; Santos-Simarro, Fernando; Schijns, Josephine; Squeo, Gabriella M.; St John, Miya; Thauvin-Robinet, Christel; Traficante, Giovanna; van der Sluijs, Pleuntje J.; Vergano, Samantha A.; Vos, Niels; Walden, Kellie K.; Azmanov, Dimitar; Balci, Tugce B.; Banka, Siddharth; Gecz, Jozef; Henneman, Peter; Lee, Jennifer A.; Mannens, Marcel M. A. M.; Roscioli, Tony; Siu, Victoria; Amor, David J.; Baynam, Gareth; Bend, Eric G.; Boycott, Kym; Brunetti-Pierri, Nicola; Campeau, Philippe M.; Campion, Dominique; Christodoulou, John; Dyment, David; Esber, Natacha; Fahrner, Jill A.; Fleming, Mark D.; Genevieve, David; Heron, Delphine; Husson, Thomas; Kernohan, Kristin D.; McNeill, Alisdair; Menke, Leonie A.; Merla, Giuseppe; Prontera, Paolo; Rockman-Greenberg, Cheryl; Schwartz, Charles; Skinner, Steven A.; Stevenson, Roger E.; Vincent, Marie; Vitobello, Antonio; Tartaglia, Marco; Alders, Marielle; Tedder, Matthew L.; Sadikovic, Bekim 分享 收藏
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Genome sequencing reveals BHLHA9 gene duplication as cause of multi-generational split-hand/foot malformation with long bone deficiency Caylor, Raymond; Fee, Timothy; Lay, Andrew; Skinner, Cindy; Everman, David; Blue, Elizabeth; Bamshad, Michael; Schwartz, Charles; Friez, Michael; Stevenson, Roger 分享 收藏
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Recommendations by the ClinGen Rett/Angelman-like expert panel for gene-specific variant interpretation methods ClinGen Rett/Angelman类专家小组对基因特异性变体解释方法的建议 McKnight, Dianalee; Bean, Lora; Karbassi, Izabela; Beattie, Katelynn; Bienvenu, Thierry; Bonin, Hope; Fang, Ping; Chrisodoulou, John; Friez, Michael; Helgeson, Maria; Krishnaraj, Rahul; Meng, Linyan; Mighion, Lindsey; Neul, Jeffrey; Percy, Alan; Ramsden, Simon; Zoghbi, Huda; Das, Soma 分享 收藏
Clinical epigenomics: genome-wide DNA methylation analysis for the diagnosis of Mendelian disorders (Feb, 10.1038/s41436-020-01096-4, 2021) Sadikovic, Bekim; Levy, Michael A.; Kerkhof, Jennifer; Aref-Eshghi, Erfan; Schenkel, Laila; Stuart, Alan; McConkey, Haley; Henneman, Peter; Venema, Andrea; Schwartz, Charles E.; Stevenson, Roger E.; Skinner, Steven A.; DuPont, Barbara R.; Fletcher, Robin S.; Balci, Tugce B.; Siu, Victoria Mok; Granadillo, Jorge L.; Masters, Jennefer; Kadour, Mike; Friez, Michael J.; van Haelst, Mieke M.; Mannens, Marcel M. A. M.; Louie, Raymond J.; Lee, Jennifer A.; Tedder, Matthew L.; Alders, Marielle 分享 收藏
Clinical epigenomics: genome-wide DNA methylation analysis for the diagnosis of Mendelian disorders Sadikovic, Bekim; Levi, Michael A.; Kerkhof, Jennifer; Aref-Eshghi, Erfan; Schenkel, Laila; Stuart, Alan; McConkey, Haley; Henneman, Peter; Venema, Andrea; Schwartz, Charles E.; Stevenson, Roger E.; Skinner, Steven A.; DuPont, Barbara R.; Fletcher, Robin S.; Balci, Tugce B.; Siu, Victoria Mok; Granadillo, Jorge L.; Masters, Jennefer; Kadour, Mike; Friez, Michael J.; van Haelst, Mieke M.; Mannens, Marcel M. A. M.; Louie, Raymond J.; Lee, Jennifer A.; Tedder, Matthew L.; Alders, Marielle 分享 收藏
Genetics of agenesis/hypoplasia of the uterus and vagina: narrowing down the number of candidate genes for Mayer-Rokitansky-Kuster-Hauser Syndrome Mikhael, Sasha; Dugar, Sonal; Morton, Madison; Chorich, Lynn P.; Tam, Kerlene Berwick; Lossie, Amy C.; Kim, Hyung-Goo; Knight, James; Taylor, Hugh S.; Mukherjee, Souhrid; Capra, John A.; Phillips, John A.; Friez, Michael; Layman, Lawrence C. 分享 收藏
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Expanding the clinical and metabolic phenotype of DPM2 deficient congenital disorders of glycosylation Radenkovic, Silvia; Fitzpatrick-Schmidt, Taylor; Byeon, Seul Kee; Madugundu, Anil K.; Saraswat, Mayank; Lichty, Angie; Wong, Sunnie Y. W.; McGee, Stephen; Kubiak, Katharine; Ligezka, Anna; Ranatunga, Wasantha; Zhang, Yuebo; Wood, Tim; Friez, Michael J.; Clarkson, Katie; Pandey, Akhilesh; Jones, Julie R.; Morava, Eva 分享 收藏
Autistic Disorder: A 20 Year Chronicle Skinner, Cindy; Pauly, Rini; Skinner, Steven A.; Schroer, Richard J.; Simensen, Richard J.; Taylor, Harold A.; Friez, Michael J.; DuPont, Barbara R.; Stevenson, Roger E. 分享 收藏
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