Search | VHL CLAP/WR-PAHO/WHO

1.

MSL2 variants lead to a neurodevelopmental syndrome with lack of coordination, epilepsy, specific dysmorphisms, and a distinct episignature.

Karayol, Remzi; Borroto, Maria Carla; Haghshenas, Sadegheh; Namasivayam, Anoja; Reilly, Jack; Levy, Michael A; Relator, Raissa; Kerkhof, Jennifer; McConkey, Haley; Shvedunova, Maria; Petersen, Andrea K; Magnussen, Kari; Zweier, Christiane; Vasileiou, Georgia; Reis, André; Savatt, Juliann M; Mulligan, Meghan R; Bicknell, Louise S; Poke, Gemma; Abu-El-Haija, Aya; Duis, Jessica; Hannig, Vickie; Srivastava, Siddharth; Barkoudah, Elizabeth; Hauser, Natalie S; van den Born, Myrthe; Hamiel, Uri; Henig, Noa; Baris Feldman, Hagit; McKee, Shane; Krapels, Ingrid P C; Lei, Yunping; Todorova, Albena; Yordanova, Ralitsa; Atemin, Slavena; Rogac, Mihael; McConnell, Vivienne; Chassevent, Anna; Barañano, Kristin W; Shashi, Vandana; Sullivan, Jennifer A; Peron, Angela; Iascone, Maria; Canevini, Maria P; Friedman, Jennifer; Reyes, Iris A; Kierstein, Janell; Shen, Joseph J; Ahmed, Faria N; Mao, Xiao.

Am J Hum Genet ; 2024 May 28.

Article in English | MEDLINE | ID: mdl-38815585

2.

Variants in CLDN5 cause a syndrome characterized by seizures, microcephaly and brain calcifications.

Deshwar, Ashish R; Cytrynbaum, Cheryl; Murthy, Harsha; Zon, Jessica; Chitayat, David; Volpatti, Jonathan; Newbury-Ecob, Ruth; Ellard, Sian; Allen, Hana Lango; Yu, Emily P; Noche, Ramil; Walker, Suzi; Scherer, Stephen W; Mahida, Sonal; Elitt, Christopher M; Nicolas, Gaël; Goldenberg, Alice; Saugier-Veber, Pascale; Lecoquierre, Francois; Dabaj, Ivana; Meddaugh, Hannah; Marble, Michael; Keppler-Noreuil, Kim M; Drayson, Lucy; Barañano, Kristin W; Chassevent, Anna; Agre, Katie; Létard, Pascaline; Bilan, Frederic; Le Guyader, Gwenaël; Laquerrière, Annie; Ramsey, Keri; Henderson, Lindsay; Brady, Lauren; Tarnopolsky, Mark; Bainbridge, Matthew; Friedman, Jennifer; Capri, Yline; Athayde, Larissa; Kok, Fernando; Gurgel-Giannetti, Juliana; Ramos, Luiza L P; Blaser, Susan; Dowling, James J; Weksberg, Rosanna.

Brain ; 146(6): 2285-2297, 2023 06 01.

Article in English | MEDLINE | ID: mdl-36477332

3.

Bi-allelic Variants in the GPI Transamidase Subunit PIGK Cause a Neurodevelopmental Syndrome with Hypotonia, Cerebellar Atrophy, and Epilepsy.

Nguyen, Thi Tuyet Mai; Murakami, Yoshiko; Mobilio, Sabrina; Niceta, Marcello; Zampino, Giuseppe; Philippe, Christophe; Moutton, Sébastien; Zaki, Maha S; James, Kiely N; Musaev, Damir; Mu, Weiyi; Baranano, Kristin; Nance, Jessica R; Rosenfeld, Jill A; Braverman, Nancy; Ciolfi, Andrea; Millan, Francisca; Person, Richard E; Bruel, Ange-Line; Thauvin-Robinet, Christel; Ververi, Athina; DeVile, Catherine; Male, Alison; Efthymiou, Stephanie; Maroofian, Reza; Houlden, Henry; Maqbool, Shazia; Rahman, Fatima; Baratang, Nissan V; Rousseau, Justine; St-Denis, Anik; Elrick, Matthew J; Anselm, Irina; Rodan, Lance H; Tartaglia, Marco; Gleeson, Joseph; Kinoshita, Taroh; Campeau, Philippe M.

Am J Hum Genet ; 106(4): 484-495, 2020 04 02.

Article in English | MEDLINE | ID: mdl-32220290

4.

De Novo and Bi-allelic Pathogenic Variants in NARS1 Cause Neurodevelopmental Delay Due to Toxic Gain-of-Function and Partial Loss-of-Function Effects.

Manole, Andreea; Efthymiou, Stephanie; O'Connor, Emer; Mendes, Marisa I; Jennings, Matthew; Maroofian, Reza; Davagnanam, Indran; Mankad, Kshitij; Lopez, Maria Rodriguez; Salpietro, Vincenzo; Harripaul, Ricardo; Badalato, Lauren; Walia, Jagdeep; Francklyn, Christopher S; Athanasiou-Fragkouli, Alkyoni; Sullivan, Roisin; Desai, Sonal; Baranano, Kristin; Zafar, Faisal; Rana, Nuzhat; Ilyas, Muhammed; Horga, Alejandro; Kara, Majdi; Mattioli, Francesca; Goldenberg, Alice; Griffin, Helen; Piton, Amelie; Henderson, Lindsay B; Kara, Benyekhlef; Aslanger, Ayca Dilruba; Raaphorst, Joost; Pfundt, Rolph; Portier, Ruben; Shinawi, Marwan; Kirby, Amelia; Christensen, Katherine M; Wang, Lu; Rosti, Rasim O; Paracha, Sohail A; Sarwar, Muhammad T; Jenkins, Dagan; Ahmed, Jawad; Santoni, Federico A; Ranza, Emmanuelle; Iwaszkiewicz, Justyna; Cytrynbaum, Cheryl; Weksberg, Rosanna; Wentzensen, Ingrid M; Guillen Sacoto, Maria J; Si, Yue.

Am J Hum Genet ; 107(2): 311-324, 2020 08 06.

Article in English | MEDLINE | ID: mdl-32738225

5.

De Novo Variants in the ATPase Module of MORC2 Cause a Neurodevelopmental Disorder with Growth Retardation and Variable Craniofacial Dysmorphism.

Guillen Sacoto, Maria J; Tchasovnikarova, Iva A; Torti, Erin; Forster, Cara; Andrew, E Hallie; Anselm, Irina; Baranano, Kristin W; Briere, Lauren C; Cohen, Julie S; Craigen, William J; Cytrynbaum, Cheryl; Ekhilevitch, Nina; Elrick, Matthew J; Fatemi, Ali; Fraser, Jamie L; Gallagher, Renata C; Guerin, Andrea; Haynes, Devon; High, Frances A; Inglese, Cara N; Kiss, Courtney; Koenig, Mary Kay; Krier, Joel; Lindstrom, Kristin; Marble, Michael; Meddaugh, Hannah; Moran, Ellen S; Morel, Chantal F; Mu, Weiyi; Muller, Eric A; Nance, Jessica; Natowicz, Marvin R; Numis, Adam L; Ostrem, Bridget; Pappas, John; Stafstrom, Carl E; Streff, Haley; Sweetser, David A; Szybowska, Marta; Walker, Melissa A; Wang, Wei; Weiss, Karin; Weksberg, Rosanna; Wheeler, Patricia G; Yoon, Grace; Kingston, Robert E; Juusola, Jane.

Am J Hum Genet ; 107(2): 352-363, 2020 08 06.

Article in English | MEDLINE | ID: mdl-32693025

6.

De novo DHDDS variants cause a neurodevelopmental and neurodegenerative disorder with myoclonus.

Galosi, Serena; Edani, Ban H; Martinelli, Simone; Hansikova, Hana; Eklund, Erik A; Caputi, Caterina; Masuelli, Laura; Corsten-Janssen, Nicole; Srour, Myriam; Oegema, Renske; Bosch, Daniëlle G M; Ellis, Colin A; Amlie-Wolf, Louise; Accogli, Andrea; Atallah, Isis; Averdunk, Luisa; Barañano, Kristin W; Bei, Roberto; Bagnasco, Irene; Brusco, Alfredo; Demarest, Scott; Alaix, Anne-Sophie; Di Bonaventura, Carlo; Distelmaier, Felix; Elmslie, Frances; Gan-Or, Ziv; Good, Jean-Marc; Gripp, Karen; Kamsteeg, Erik-Jan; Macnamara, Ellen; Marcelis, Carlo; Mercier, Noëlle; Peeden, Joseph; Pizzi, Simone; Pannone, Luca; Shinawi, Marwan; Toro, Camilo; Verbeek, Nienke E; Venkateswaran, Sunita; Wheeler, Patricia G; Zdrazilova, Lucie; Zhang, Rong; Zorzi, Giovanna; Guerrini, Renzo; Sessa, William C; Lefeber, Dirk J; Tartaglia, Marco; Hamdan, Fadi F; Grabinska, Kariona A; Leuzzi, Vincenzo.

Brain ; 145(1): 208-223, 2022 03 29.

Article in English | MEDLINE | ID: mdl-34382076

7.

Prenatal phenotyping of fetal tubulinopathies: A multicenter retrospective case series.

Brar, Bobby K; Thompson, Marisa Gilstrop; Vora, Neeta L; Gilmore, Kelly; Blakemore, Karin; Miller, Kristen A; Giordano, Jessica; Dufke, Andreas; Wong, Beatrix; Stover, Samantha; Lianoglou, Billie; Van den Veyver, Ignatia; Dempsey, Esther; Rosner, Mara; Chong, Karen; Chitayat, David; Sparks, Teresa N; Norton, Mary E; Wapner, Ronald; Baranano, Kristin; Jelin, Angie C.

Prenat Diagn ; 42(13): 1686-1693, 2022 12.

Article in English | MEDLINE | ID: mdl-36403095

8.

TAOK1 is associated with neurodevelopmental disorder and essential for neuronal maturation and cortical development.

van Woerden, Geeske M; Bos, Melanie; de Konink, Charlotte; Distel, Ben; Avagliano Trezza, Rossella; Shur, Natasha E; Barañano, Kristin; Mahida, Sonal; Chassevent, Anna; Schreiber, Allison; Erwin, Angelika L; Gripp, Karen W; Rehman, Fatima; Brulleman, Saskia; McCormack, Róisín; de Geus, Gwynna; Kalsner, Louisa; Sorlin, Arthur; Bruel, Ange-Line; Koolen, David A; Gabriel, Melissa K; Rossi, Mari; Fitzpatrick, David R; Wilkie, Andrew O M; Calpena, Eduardo; Johnson, David; Brooks, Alice; van Slegtenhorst, Marjon; Fleischer, Julie; Groepper, Daniel; Lindstrom, Kristin; Innes, A Micheil; Goodwin, Allison; Humberson, Jennifer; Noyes, Amanda; Langley, Katherine G; Telegrafi, Aida; Blevins, Amy; Hoffman, Jessica; Guillen Sacoto, Maria J; Juusola, Jane; Monaghan, Kristin G; Punj, Sumit; Simon, Marleen; Pfundt, Rolph; Elgersma, Ype; Kleefstra, Tjitske.

Hum Mutat ; 42(4): 445-459, 2021 04.

Article in English | MEDLINE | ID: mdl-33565190

9.

PIGG variant pathogenicity assessment reveals characteristic features within 19 families.

Tremblay-Laganière, Camille; Maroofian, Reza; Nguyen, Thi Tuyet Mai; Karimiani, Ehsan Ghayoor; Kirmani, Salman; Akbar, Fizza; Ibrahim, Shahnaz; Afroze, Bushra; Doosti, Mohammad; Ashrafzadeh, Farah; Babaei, Meisam; Efthymiou, Stephanie; Christoforou, Marilena; Sultan, Tipu; Ladda, Roger L; McLaughlin, Heather M; Truty, Rebecca; Mahida, Sonal; Cohen, Julie S; Baranano, Kristin; Ismail, Fatima Y; Patel, Millan S; Lehman, Anna; Edmondson, Andrew C; Nagy, Amanda; Walker, Melissa A; Mercimek-Andrews, Saadet; Maki, Yuta; Sachdev, Rani; Macintosh, Rebecca; Palmer, Elizabeth E; Mancini, Grazia M S; Barakat, Tahsin Stefan; Steinfeld, Robert; Rüsch, Christina T; Stettner, Georg M; Wagner, Matias; Wortmann, Saskia B; Kini, Usha; Brady, Angela F; Stals, Karen L; Ismayilova, Naila; Ellard, Sian; Bernardo, Danilo; Nugent, Kimberly; McLean, Scott D; Antonarakis, Stylianos E; Houlden, Henry; Kinoshita, Taroh; Campeau, Philippe M.

Genet Med ; 23(10): 1873-1881, 2021 10.

Article in English | MEDLINE | ID: mdl-34113002

10.

Leukoencephalopathy with calcifications and cysts: Genetic and phenotypic spectrum.

Crow, Yanick J; Marshall, Heather; Rice, Gillian I; Seabra, Luis; Jenkinson, Emma M; Baranano, Kristin; Battini, Roberta; Berger, Andrea; Blair, Edward; Blauwblomme, Thomas; Bolduc, Francois; Boddaert, Natalie; Buckard, Johannes; Burnett, Heather; Calvert, Sophie; Caumes, Roseline; Ng, Andy Cheuk-Him; Chiang, Diana; Clifford, David B; Cordelli, Duccio M; de Burca, Anna; Demic, Natasha; Desguerre, Isabelle; De Waele, Liesbeth; Di Fonzo, Alessio; Dunham, S Richard; Dyack, Sarah; Elmslie, Frances; Ferrand, Mickaël; Fisher, Gemma; Karimiani, Ehsan Ghayoor; Ghoumid, Jamal; Gibbon, Frances; Goel, Himanshu; Hilmarsen, Hilde T; Hughes, Imelda; Jacob, Anu; Jones, Elizabeth A; Kumar, Ram; Leventer, Richard J; MacDonald, Shelley; Maroofian, Reza; Mehta, Sarju G; Metz, Imke; Monfrini, Edoardo; Neumann, Daniela; Noetzel, Michael; O'Driscoll, Mary; Õunap, Katrin; Panzer, Axel.

Am J Med Genet A ; 185(1): 15-25, 2021 01.

Article in English | MEDLINE | ID: mdl-33029936

11.

De Novo Mutations of RERE Cause a Genetic Syndrome with Features that Overlap Those Associated with Proximal 1p36 Deletions.

Fregeau, Brieana; Kim, Bum Jun; Hernández-García, Andrés; Jordan, Valerie K; Cho, Megan T; Schnur, Rhonda E; Monaghan, Kristin G; Juusola, Jane; Rosenfeld, Jill A; Bhoj, Elizabeth; Zackai, Elaine H; Sacharow, Stephanie; Barañano, Kristin; Bosch, Daniëlle G M; de Vries, Bert B A; Lindstrom, Kristin; Schroeder, Audrey; James, Philip; Kulch, Peggy; Lalani, Seema R; van Haelst, Mieke M; van Gassen, Koen L I; van Binsbergen, Ellen; Barkovich, A James; Scott, Daryl A; Sherr, Elliott H.

Am J Hum Genet ; 98(5): 963-970, 2016 May 05.

Article in English | MEDLINE | ID: mdl-27087320

12.

Cornelia de Lange syndrome, related disorders, and the Cohesin complex: Abstracts from the 8th biennial scientific and educational symposium 2018.

Kline, Antonie D; Krantz, Ian D; Bando, Masashige; Shirahige, Katsuhiko; Chea, Stephenson; Sakata, Toyonori; Rao, Suhas; Dorsett, Dale; Singh, Vijay Pratap; Gerton, Jennifer L; Horsfield, Julia A; Calof, Anne L; Katz, Olivia; Grados, Marco; Raible, Sarah; Barañano, Kristin; Lyon, Gholson; Musio, Antonio; Carrico, Cheri S; Clemens, Douglas K; Caudill, Patti; Massa, Valentina; McGill, Bryan E; Dommestrup, Aila; O'Connor, Julia; Haaland, Richard E.

Am J Med Genet A ; 179(6): 1080-1090, 2019 06.

Article in English | MEDLINE | ID: mdl-30874362

13.

Monogenic disorders that mimic the phenotype of Rett syndrome.

Srivastava, Siddharth; Desai, Sonal; Cohen, Julie; Smith-Hicks, Constance; Barañano, Kristin; Fatemi, Ali; Naidu, SakkuBai.

Neurogenetics ; 19(1): 41-47, 2018 01.

Article in English | MEDLINE | ID: mdl-29322350

14.

Identification of a syndrome comprising microcephaly and intellectual disability but not white matter disease associated with a homozygous c.676C>T p.R226W DEAF1 mutation.

Gund, Christian; Powis, Zöe; Alcaraz, Wendy; Desai, Sonal; Baranano, Kristin.

Am J Med Genet A ; 170A(5): 1330-2, 2016 May.

Article in English | MEDLINE | ID: mdl-26834045

15.

Genotype-phenotype correlation of congenital anomalies in multiple congenital anomalies hypotonia seizures syndrome (MCAHS1)/PIGN-related epilepsy.

Fleming, Leah; Lemmon, Monica; Beck, Natalie; Johnson, Maria; Mu, Weiyi; Murdock, David; Bodurtha, Joann; Hoover-Fong, Julie; Cohn, Ronald; Bosemani, Thangamadhan; Barañano, Kristin; Hamosh, Ada.

Am J Med Genet A ; 170A(1): 77-86, 2016 Jan.

Article in English | MEDLINE | ID: mdl-26394714

16.

Leukodystrophies.

Barañano, Kristin W.

Semin Neurol ; 36(4): 362-6, 2016 Aug.

Article in English | MEDLINE | ID: mdl-27643905

17.

Clinical whole exome sequencing in child neurology practice.

Srivastava, Siddharth; Cohen, Julie S; Vernon, Hilary; Barañano, Kristin; McClellan, Rebecca; Jamal, Leila; Naidu, SakkuBai; Fatemi, Ali.

Ann Neurol ; 76(4): 473-83, 2014 Oct.

Article in English | MEDLINE | ID: mdl-25131622

18.

Novel KIF7 missense substitutions in two patients presenting with multiple malformations and features of acrocallosal syndrome.

Tunovic, Sanjin; Barañano, Kristin W; Barkovich, James A; Strober, Jonathan B; Jamal, Leila; Slavotinek, Anne M.

Am J Med Genet A ; 167A(11): 2767-76, 2015 Nov.

Article in English | MEDLINE | ID: mdl-26174511

19.

A neurodevelopmental disorder caused by a dysfunctional CACNA1A allele.

Kramer, Audra A; Bennett, Daniel F; Barañano, Kristin W; Bannister, Roger A.

eNeurologicalSci ; 31: 100456, 2023 Jun.

Article in English | MEDLINE | ID: mdl-36938367

20.

Novel loss of function mutation in TUBA1A gene compromises tubulin stability and proteostasis causing spastic paraplegia and ataxia.

Zocchi, Riccardo; Bellacchio, Emanuele; Piccione, Michela; Scardigli, Raffaella; D'Oria, Valentina; Petrini, Stefania; Baranano, Kristin; Bertini, Enrico; Sferra, Antonella.

Front Cell Neurosci ; 17: 1162363, 2023.

Article in English | MEDLINE | ID: mdl-37435044

VHL CLAP/WR-PAHO/WHO

Latin-American Center for Perinatology, Woman and Reproductive Health

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