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1.

De novo variants in FRYL are associated with developmental delay, intellectual disability, and dysmorphic features.

Pan, Xueyang; Tao, Alice M; Lu, Shenzhao; Ma, Mengqi; Hannan, Shabab B; Slaugh, Rachel; Drewes Williams, Sarah; O'Grady, Lauren; Kanca, Oguz; Person, Richard; Carter, Melissa T; Platzer, Konrad; Schnabel, Franziska; Abou Jamra, Rami; Roberts, Amy E; Newburger, Jane W; Revah-Politi, Anya; Granadillo, Jorge L; Stegmann, Alexander P A; Sinnema, Margje; Accogli, Andrea; Salpietro, Vincenzo; Capra, Valeria; Ghaloul-Gonzalez, Lina; Brueckner, Martina; Simon, Marleen E H; Sweetser, David A; Glinton, Kevin E; Kirk, Susan E; Wangler, Michael F; Yamamoto, Shinya; Chung, Wendy K; Bellen, Hugo J.

Am J Hum Genet ; 111(4): 742-760, 2024 Apr 04.

Artículo en Inglés | MEDLINE | ID: mdl-38479391

2.

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, 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; Yang, Jun; Juusola, Jane.

Am J Hum Genet ; 111(4): 778-790, 2024 Apr 04.

Artículo en Inglés | MEDLINE | ID: mdl-38531365

3.

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, 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.

Am J Hum Genet ; 2024 May 14.

Artículo en Inglés | MEDLINE | ID: mdl-38749428

4.

Phenotypic expansion of CACNA1C-associated disorders to include isolated neurological manifestations.

Rodan, Lance H; Spillmann, Rebecca C; Kurata, Harley T; Lamothe, Shawn M; Maghera, Jasmine; Jamra, Rami Abou; Alkelai, Anna; Antonarakis, Stylianos E; Atallah, Isis; Bar-Yosef, Omer; Bilan, Frédéric; Bjorgo, Kathrine; Blanc, Xavier; Van Bogaert, Patrick; Bolkier, Yoav; Burrage, Lindsay C; Christ, Björn U; Granadillo, Jorge L; Dickson, Patricia; Donald, Kirsten A; Dubourg, Christèle; Eliyahu, Aviva; Emrick, Lisa; Engleman, Kendra; Gonfiantini, Michaela Veronika; Good, Jean-Marc; Kalser, Judith; Kloeckner, Chiara; Lachmeijer, Guus; Macchiaiolo, Marina; Nicita, Francesco; Odent, Sylvie; O'Heir, Emily; Ortiz-Gonzalez, Xilma; Pacio-Miguez, Marta; Palomares-Bralo, María; Pena, Loren; Platzer, Konrad; Quinodoz, Mathieu; Ranza, Emmanuelle; Rosenfeld, Jill A; Roulet-Perez, Eliane; Santani, Avni; Santos-Simarro, Fernando; Pode-Shakked, Ben; Skraban, Cara; Slaugh, Rachel; Superti-Furga, Andrea; Thiffault, Isabelle; van Jaabrsveld, Richard H.

Genet Med ; 23(10): 1922-1932, 2021 10.

Artículo en Inglés | MEDLINE | ID: mdl-34163037

5.

De novo variants of NR4A2 are associated with neurodevelopmental disorder and epilepsy.

Singh, Sakshi; Gupta, Aditi; Zech, Michael; Sigafoos, Ashley N; Clark, Karl J; Dincer, Yasemin; Wagner, Matias; Humberson, Jennifer B; Green, Sarah; van Gassen, Koen; Brandt, Tracy; Schnur, Rhonda E; Millan, Francisca; Si, Yue; Mall, Volker; Winkelmann, Juliane; Gavrilova, Ralitza H; Klee, Eric W; Engleman, Kendra; Safina, Nicole P; Slaugh, Rachel; Bryant, Emily M; Tan, Wen-Hann; Granadillo, Jorge; Misra, Sunita N; Schaefer, G Bradley; Towner, Shelley; Brilstra, Eva H; Koeleman, Bobby P C.

Genet Med ; 22(8): 1413-1417, 2020 08.

Artículo en Inglés | MEDLINE | ID: mdl-32366965

6.

Correction: Phenotypic expansion of CACNA1C-associated disorders to include isolated neurological manifestations.

Rodan, Lance H; Spillmann, Rebecca C; Kurata, Harley T; Lamothe, Shawn M; Maghera, Jasmine; Jamra, Rami Abou; Alkelai, Anna; Antonarakis, Stylianos E; Atallah, Isis; Bar-Yosef, Omer; Bilan, Frédéric; Bjorgo, Kathrine; Blanc, Xavier; Van Bogaert, Patrick; Bolkier, Yoav; Burrage, Lindsay C; Christ, Björn U; Granadillo, Jorge L; Dickson, Patricia; Donald, Kirsten A; Dubourg, Christèle; Eliyahu, Aviva; Emrick, Lisa; Engleman, Kendra; Gonfiantini, Michaela Veronika; Good, Jean-Marc; Kalser, Judith; Kloeckner, Chiara; Lachmeijer, Guus; Macchiaiolo, Marina; Nicita, Francesco; Odent, Sylvie; O'Heir, Emily; Ortiz-Gonzalez, Xilma; Pacio-Miguez, Marta; Palomares-Bralo, María; Pena, Loren; Platzer, Konrad; Quinodoz, Mathieu; Ranza, Emmanuelle; Rosenfeld, Jill A; Roulet-Perez, Eliane; Santani, Avni; Santos-Simarro, Fernando; Pode-Shakked, Ben; Skraban, Cara; Slaugh, Rachel; Superti-Furga, Andrea; Thiffault, Isabelle; van Jaabrsveld, Richard H.

Genet Med ; 23(10): 2016, 2021 Oct.

Artículo en Inglés | MEDLINE | ID: mdl-34522029

7.

PTPN4 germline variants result in aberrant neurodevelopment and growth.

Chmielewska, Joanna J; Burkardt, Deepika; Granadillo, Jorge Luis; Slaugh, Rachel; Morgan, Shamile; Rotenberg, Joshua; Keren, Boris; Mignot, Cyril; Escobar, Luis; Turnpenny, Peter; Zuteck, Melissa; Seaver, Laurie H; Ploski, Rafal; Dziembowska, Magdalena; Wynshaw-Boris, Anthony; Adegbola, Abidemi.

HGG Adv ; 2(3)2021 Jul 08.

Artículo en Inglés | MEDLINE | ID: mdl-34527963

8.

Lysosomal storage diseases.

Manwaring, Linda P; Jamerson, Patricia A; Slaugh, Rachel.

RN ; 71(7): 33-7; quiz 38, 2008 Jul.

Artículo en Inglés | MEDLINE | ID: mdl-18720909

9.

Mutations in CUL4B, which encodes a ubiquitin E3 ligase subunit, cause an X-linked mental retardation syndrome associated with aggressive outbursts, seizures, relative macrocephaly, central obesity, hypogonadism, pes cavus, and tremor.

Tarpey, Patrick S; Raymond, F Lucy; O'Meara, Sarah; Edkins, Sarah; Teague, Jon; Butler, Adam; Dicks, Ed; Stevens, Claire; Tofts, Calli; Avis, Tim; Barthorpe, Syd; Buck, Gemma; Cole, Jennifer; Gray, Kristian; Halliday, Kelly; Harrison, Rachel; Hills, Katy; Jenkinson, Andrew; Jones, David; Menzies, Andrew; Mironenko, Tatiana; Perry, Janet; Raine, Keiran; Richardson, David; Shepherd, Rebecca; Small, Alexandra; Varian, Jennifer; West, Sofie; Widaa, Sara; Mallya, Uma; Moon, Jenny; Luo, Ying; Holder, Susan; Smithson, Sarah F; Hurst, Jane A; Clayton-Smith, Jill; Kerr, Bronwyn; Boyle, Jackie; Shaw, Marie; Vandeleur, Lucianne; Rodriguez, Jayson; Slaugh, Rachel; Easton, Douglas F; Wooster, Richard; Bobrow, Martin; Srivastava, Anand K; Stevenson, Roger E; Schwartz, Charles E; Turner, Gillian; Gecz, Jozef.

Am J Hum Genet ; 80(2): 345-52, 2007 Feb.

Artículo en Inglés | MEDLINE | ID: mdl-17236139

10.

Sialic acid storage disease of the Salla phenotype in American monozygous twin female sibs.

Martin, Rick A; Slaugh, Rachel; Natowicz, Marvin; Pearlman, Kayla; Orvisky, Eduard; Krasnewich, Donna; Kleta, Robert; Huizing, Marjan; Gahl, William A.

Am J Med Genet A ; 120A(1): 23-7, 2003 Jul 01.

Artículo en Inglés | MEDLINE | ID: mdl-12794687

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De novo variants in FRYL are associated with developmental delay, intellectual disability, and dysmorphic features.

De novo missense variants in exon 9 of SEPHS1 cause a neurodevelopmental condition with developmental delay, poor growth, hypotonia, and dysmorphic features.

De novo missense variants in exon 9 of SEPHS1 cause a neurodevelopmental condition with developmental delay, poor growth, hypotonia, and dysmorphic features.

Phenotypic expansion of CACNA1C-associated disorders to include isolated neurological manifestations.

De novo variants of NR4A2 are associated with neurodevelopmental disorder and epilepsy.

Correction: Phenotypic expansion of CACNA1C-associated disorders to include isolated neurological manifestations.

PTPN4 germline variants result in aberrant neurodevelopment and growth.

Lysosomal storage diseases.

Mutations in CUL4B, which encodes a ubiquitin E3 ligase subunit, cause an X-linked mental retardation syndrome associated with aggressive outbursts, seizures, relative macrocephaly, central obesity, hypogonadism, pes cavus, and tremor.

Sialic acid storage disease of the Salla phenotype in American monozygous twin female sibs.