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Bi-allelic JAM2 Variants Lead to Early-Onset Recessive Primary Familial Brain Calcification
by
Schottlaender, Lucia V.
,
Abeti, Rosella
,
Jaunmuktane, Zane
,
Macmillan, Carol
,
Chelban, Viorica
,
O’Callaghan, Benjamin
,
McKinley, John
,
Maroofian, Reza
,
Efthymiou, Stephanie
,
Athanasiou-Fragkouli, Alkyoni
,
Forbes, Raeburn
,
Soutar, Marc P.M.
,
Livingston, John H.
,
Kalmar, Bernardett
,
Swayne, Orlando
,
Hotton, Gary
,
Groppa, Stanislav
,
Karashova, Blagovesta Marinova
,
Nachbauer, Wolfgang
,
Boesch, Sylvia
,
Arning, Larissa
,
Timmann, Dagmar
,
Cormand, Bru
,
Pérez-Dueñas, Belen
,
Di Rosa, Gabriella
,
Goraya, Jatinder S.
,
Sultan, Tipu
,
Mine, Jun
,
Avdjieva, Daniela
,
Kathom, Hadil
,
Tincheva, Radka
,
Banu, Selina
,
Pineda-Marfa, Mercedes
,
Veggiotti, Pierangelo
,
Ferrari, Michel D.
,
Verrotti, Alberto
,
Marseglia, Giangluigi
,
Savasta, Salvatore
,
García-Silva, Mayte
,
Ruiz, Alfons Macaya
,
Garavaglia, Barbara
,
Borgione, Eugenia
,
Portaro, Simona
,
Sanchez, Benigno Monteagudo
,
Boles, Richard
,
Papacostas, Savvas
,
Vikelis, Michail
,
Papanicolaou, Eleni Zamba
,
Dardiotis, Efthymios
,
Maqbool, Shazia
,
Ibrahim, Shahnaz
,
Kirmani, Salman
,
Rana, Nuzhat Noureen
,
Atawneh, Osama
,
Koutsis, George
,
Breza, Marianthi
,
Mangano, Salvatore
,
Scuderi, Carmela
,
Morello, Giovanna
,
Stojkovic, Tanya
,
Zollo, Massimi
,
Heimer, Gali
,
Dauvilliers, Yves A.
,
Striano, Pasquale
,
Al-Khawaja, Issam
,
Al-Mutairi, Fuad
,
Sherifa, Hamed
,
Pittman, Alan
,
Mendes de Oliveira, João Ricardo
,
de Grandis, Maria
,
Richard-Loendt, Angela
,
Launchbury, Francesca
,
Althonayan, Juri
,
McDonnell, Gavin
,
Carr, Aisling
,
Khan, Suliman
,
Beetz, Christian
,
Bisgin, Atil
,
Tug Bozdogan, Sevcan
,
Begtrup, Amber
,
Torti, Erin
,
Greensmith, Linda
,
Giunti, Paola
,
Morrison, Patrick J.
,
Brandner, Sebastian
,
Aurrand-Lions, Michel
,
Houlden, Henry
Published in
American journal of human genetics
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PDXK mutations cause polyneuropathy responsive to pyridoxal 5′‐phosphate supplementation
by
Chelban, Viorica
,
Wilson, Matthew P.
,
Warman Chardon, Jodi
,
Vandrovcova, Jana
,
Zamba‐Papanicolaou, Eleni
,
Pope, Simon
,
Conte, Maria R.
,
Abis, Giancarlo
,
Liu, Yo‐Tsen
,
Tribollet, Eloise
,
Haridy, Nourelhoda A.
,
Botía, Juan A.
,
Ryten, Mina
,
Nicolaou, Paschalis
,
Minaidou, Anna
,
Kernohan, Kristin D.
,
Eaton, Alison
,
Bello, Oscar
,
Bremner, Fion
,
Cordivari, Carla
,
Reilly, Mary M.
,
Foiani, Martha
,
Zetterberg, Henrik
,
Heales, Simon J. R.
,
Rothman, James E.
,
Clayton, Peter T.
,
Houlden, Henry
,
Kriouile, Yamna
,
Aguennouz, Mhammed
,
Groppa, Stanislav
,
Marinova Karashova, Blagovesta
,
Van Maldergem, Lionel
,
Nachbauer, Wolfgang
,
Boesch, Sylvia
,
Arning, Larissa
,
Timmann, Dagmar
,
Cormand, Bru
,
Pérez‐Dueñas, Belen
,
Di Rosa, Gabriella
,
Goraya, Jatinder S.
,
Sultan, Tipu
,
Mine, Jun
,
Avdjieva, Daniela
,
Kathom, Hadil
,
Tincheva, Radka
,
Pineda‐Marfa, Mercedes
,
Ferrari, Michel D.
,
van den Maagdenberg, Arn M J M
,
Verrotti, Alberto
,
Marseglia, Giangluigi
,
García‐Silva, Mayte
,
Ruiz, Alfons Macaya
,
Garavaglia, Barbara
,
Borgione, Eugenia
,
Portaro, Simona
,
Boles, Richard
,
Giunti, Paola
,
Chelban, Viorica
,
Salpietro, Vincenzo
,
Efthymiou, Stephanie
,
Kullmann, Dimitri
,
Kaiyrzhanov, Rauan
,
Sullivan, Roisin
,
Khan, Alaa Matooq
,
Yau, Wai Yan
,
Papanicolaou, Eleni Zamba
,
Maqbool, Shazia
,
Rana, Nuzhat Noureen
,
Atawneh, Osama
,
Shaikh, Farooq
,
Koutsis, George
,
Breza, Marianthi
,
Mangano, Salvatore
,
Scuderi, Carmela
,
Borgione, Eugenia
,
Stojkovic, Tanya
,
Torti, Erin
,
Zollo, Massimi
,
Dauvilliers, Yves A.
,
Rizig, Mie
,
Okubadejo, Njideka U.
,
Ojo, Oluwadamilola O.
,
Wahab, Kolawole
,
Bello, Abiodun H.
,
Obiabo, Yahaya
,
Nwazor, Ernest
,
Iyagba, Alagoma
,
Taiwo, Lolade
,
Komolafe, Morenikeji
,
Oguntunde, Olapeju
,
Senkevich, Konstantin
,
Haridy, Nourelhoda
,
Shashkin, Chingiz
,
Zharkynbekova, Nazira
,
Koneyev, Kairgali
,
Isrofilov, Maksud
,
Khachatryan, Samson
,
Silvestri, Gabriella
,
Bourinaris, Thomas
,
Fidani, Liana
Published in
Annals of neurology
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Early-infantile onset epilepsy and developmental delay caused by bi-allelic GAD1 variants
by
Neuray, Caroline
,
Maroofian, Reza
,
Scala, Marcello
,
Sultan, Tipu
,
Pai, Gurpur S
,
Mojarrad, Majid
,
Khashab, Heba El
,
deHoll, Leigh
,
Yue, Wyatt
,
Alsaif, Hessa S
,
Zanetti, Maria N
,
Bello, Oscar
,
Person, Richard
,
Eslahi, Atieh
,
Khazaei, Zaynab
,
Feizabadi, Masoumeh H
,
Efthymiou, Stephanie
,
El-Bassyouni, Hala T
,
Soliman, Doaa R
,
Tekes, Selahattin
,
Ozer, Leyla
,
Baltaci, Volkan
,
Khan, Suliman
,
Beetz, Christian
,
Amr, Khalda S
,
Salpietro, Vincenzo
,
Jamshidi, Yalda
,
Alkuraya, Fowzan S
,
Houlden, Henry
Published in
Brain (London, England : 1878)
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Intertumoral Heterogeneity within Medulloblastoma Subgroups
by
Cavalli, Florence M.G.
,
Remke, Marc
,
Rampasek, Ladislav
,
Peacock, John
,
Shih, David J.H.
,
Luu, Betty
,
Garzia, Livia
,
Torchia, Jonathon
,
Nor, Carolina
,
Morrissy, A. Sorana
,
Agnihotri, Sameer
,
Thompson, Yuan Yao
,
Kuzan-Fischer, Claudia M.
,
Farooq, Hamza
,
Isaev, Keren
,
Daniels, Craig
,
Cho, Byung-Kyu
,
Kim, Seung-Ki
,
Wang, Kyu-Chang
,
Lee, Ji Yeoun
,
Grajkowska, Wieslawa A.
,
Perek-Polnik, Marta
,
Vasiljevic, Alexandre
,
Faure-Conter, Cecile
,
Jouvet, Anne
,
Giannini, Caterina
,
Nageswara Rao, Amulya A.
,
Li, Kay Ka Wai
,
Ng, Ho-Keung
,
Eberhart, Charles G.
,
Pollack, Ian F.
,
Hamilton, Ronald L.
,
Gillespie, G. Yancey
,
Olson, James M.
,
Leary, Sarah
,
Weiss, William A.
,
Lach, Boleslaw
,
Chambless, Lola B.
,
Thompson, Reid C.
,
Cooper, Michael K.
,
Vibhakar, Rajeev
,
Hauser, Peter
,
van Veelen, Marie-Lise C.
,
Kros, Johan M.
,
French, Pim J.
,
Ra, Young Shin
,
Kumabe, Toshihiro
,
López-Aguilar, Enrique
,
Zitterbart, Karel
,
Sterba, Jaroslav
,
Finocchiaro, Gaetano
,
Massimino, Maura
,
Van Meir, Erwin G.
,
Osuka, Satoru
,
Shofuda, Tomoko
,
Klekner, Almos
,
Zollo, Massimo
,
Leonard, Jeffrey R.
,
Rubin, Joshua B.
,
Jabado, Nada
,
Albrecht, Steffen
,
Mora, Jaume
,
Van Meter, Timothy E.
,
Jung, Shin
,
Moore, Andrew S.
,
Hallahan, Andrew R.
,
Chan, Jennifer A.
,
Tirapelli, Daniela P.C.
,
Carlotti, Carlos G.
,
Fouladi, Maryam
,
Pimentel, José
,
Faria, Claudia C.
,
Saad, Ali G.
,
Massimi, Luca
,
Liau, Linda M.
,
Wheeler, Helen
,
Nakamura, Hideo
,
Elbabaa, Samer K.
,
Perezpeña-Diazconti, Mario
,
Chico Ponce de León, Fernando
,
Robinson, Shenandoah
,
Zapotocky, Michal
,
Lassaletta, Alvaro
,
Huang, Annie
,
Hawkins, Cynthia E.
,
Tabori, Uri
,
Bouffet, Eric
,
Bartels, Ute
,
Dirks, Peter B.
,
Rutka, James T.
,
Bader, Gary D.
,
Reimand, Jüri
,
Goldenberg, Anna
,
Ramaswamy, Vijay
,
Taylor, Michael D.
Published in
Cancer cell
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Pattern of Relapse and Treatment Response in WNT-Activated Medulloblastoma
by
Nobre, Liana
,
Zapotocky, Michal
,
Khan, Sara
,
Fukuoka, Kohei
,
Fonseca, Adriana
,
McKeown, Tara
,
Sumerauer, David
,
Vicha, Ales
,
Grajkowska, Wieslawa A.
,
Trubicka, Joanna
,
Li, Kay Ka Wai
,
Ng, Ho-Keung
,
Massimi, Luca
,
Lee, Ji Yeoun
,
Kim, Seung-Ki
,
Zelcer, Shayna
,
Vasiljevic, Alexandre
,
Faure-Conter, Cécile
,
Hauser, Peter
,
Lach, Boleslaw
,
van Veelen-Vincent, Marie-Lise
,
French, Pim J.
,
Van Meir, Erwin G.
,
Weiss, William A.
,
Gupta, Nalin
,
Pollack, Ian F.
,
Hamilton, Ronald L.
,
Nageswara Rao, Amulya A.
,
Giannini, Caterina
,
Rubin, Joshua B.
,
Moore, Andrew S.
,
Chambless, Lola B.
,
Vibhakar, Rajeev
,
Ra, Young Shin
,
Massimino, Maura
,
McLendon, Roger E.
,
Wheeler, Helen
,
Zollo, Massimo
,
Ferruci, Veronica
,
Kumabe, Toshihiro
,
Faria, Claudia C.
,
Sterba, Jaroslav
,
Jung, Shin
,
López-Aguilar, Enrique
,
Mora, Jaume
,
Carlotti, Carlos G.
,
Olson, James M.
,
Leary, Sarah
,
Cain, Jason
,
Krskova, Lenka
,
Zamecnik, Josef
,
Hawkins, Cynthia E.
,
Tabori, Uri
,
Huang, Annie
,
Bartels, Ute
,
Northcott, Paul A.
,
Taylor, Michael D.
,
Yip, Stephen
,
Hansford, Jordan R.
,
Bouffet, Eric
,
Ramaswamy, Vijay
Published in
Cell reports. Medicine
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