Pontocerebellar hypoplasia associated with p.Arg183Trp homozygous variant in EXOSC1 gene: A case report von Damseh, Nadirah S., Obeidat, Ali N., Ahammed, Khondakar Sayef, Al‐Ashhab, Motee, Awad, Motee Abu, Hoof, Ambro

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A loss-of-function mutation in human Oxidation Resistance 1 disrupts the spatial–temporal regulation of histone arginine methylation in neurodevelopment von Lin, Xiaolin, Wang, Wei, Yang, Mingyi, Damseh, Nadirah, de Sousa, Mirta Mittelstedt Leal, Jacob, Fadi, Lång, Anna, Kristiansen, Elise, Pannone, Marco, Kissova, Miroslava, Almaas, Runar, Kuśnierczyk, Anna, Siller, Richard, Shahrour, Maher, Al-Ashhab, Motee, Abu-Libdeh, Bassam, Tang, Wannan, Slupphaug, Geir, Elpeleg, Orly, Bøe, Stig Ove, Eide, Lars, Sullivan, Gareth J., Rinholm, Johanne Egge, Song, Hongjun, Ming, Guo-li, van Loon, Barbara, Edvardson, Simon, Ye, Jing, Bjørås, Magnar

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Pontocerebellar hypoplasia associated with p. Arg183Trp homozygous variant in EXOSC1 gene: A case report von Damseh, Nadirah S., Obeidat, Ali N., Ahammed, Khondakar Sayef, Al‐Ashhab, Motee, Awad, Motee Abu, van Hoof, Ambro

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Mutations in SLC1A4, encoding the brain serine transporter, are associated with developmental delay, microcephaly and hypomyelination von Damseh, Nadirah, Simonin, Alexandre, Jalas, Chaim, Picoraro, Joseph A, Shaag, Avraham, Cho, Megan T, Yaacov, Barak, Neidich, Julie, Al-Ashhab, Motee, Juusola, Jane, Bale, Sherri, Telegrafi, Aida, Retterer, Kyle, Pappas, John G, Moran, Ellen, Cappell, Joshua, Anyane Yeboa, Kwame, Abu-Libdeh, Bassam, Hediger, Matthias A, Chung, Wendy K, Elpeleg, Orly, Edvardson, Simon

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Broadening the phenotypic and molecular spectrum of FINCA syndrome: Biallelic NHLRC2 variants in 15 novel individuals von Sczakiel, Henrike L, Zhao, Max, Wollert-Wulf, Brigitte, Danyel, Magdalena, Ehmke, Nadja, Stoltenburg, Corinna, Damseh, Nadirah, Al-Ashhab, Motee, Balci, Tugce B, Osmond, Matthew, Andrade, Andrea, Schallner, Jens, Porrmann, Joseph, McDonald, Kimberly, Liao, Mingjuan, Oppermann, Henry, Platzer, Konrad, Dierksen, Nadine, Mojarrad, Majid, Eslahi, Atieh, Bakaeean, Behnaz, Calame, Daniel G, Lupski, James R, Firoozfar, Zahra, Seyedhassani, Seyed Mohammad, Mohammadi, Seyed Ahmad, Anwaar, Najwa, Rahman, Fatima, Seelow, Dominik, Janz, Martin, Horn, Denise, Maroofian, Reza, Boschann, Felix

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A defect in the retromer accessory protein, SNX27, manifests by infantile myoclonic epilepsy and neurodegeneration von Damseh, Nadirah, Danson, Chris M., Al-Ashhab, Motee, Abu-Libdeh, Bassam, Gallon, Matthew, Sharma, Kanchan, Yaacov, Barak, Coulthard, Elizabeth, Caldwell, Maeve A., Edvardson, Simon, Cullen, Peter J., Elpeleg, Orly

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A loss-of-function mutation in human Oxidation Resistance 1 disrupts the spatial–temporal regulation of histone arginine methylation in neurodevelopment von Lin, Xiaolin, Wang, Wei, Yang, Mingyi, Damseh, Nadirah, Sousa, Mirta, Jacob, Fadi, lång, anna ulrika, Kristiansen, Elise, Pannone, Marco, Kissova, Miroslava, Almaas, Runar, Kusnierczyk, Anna, Siller, Richard, Shahrour, Maher, Al-Ashhab, Motee, Abu-Libdeh, Bassam, Tang, Wannan, Slupphaug, Geir, Elpeleg, Orly, Bøe, Stig Ove, Eide, Lars, Sullivan, Gareth John, Rinholm, Johanne Egge, Song, Hongjun, Ming, Guo-li, van Loon, Barbara, Edvardson, Simon, Ye, Jing, Bjørås, Magnar

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A loss-of-function mutation in human Oxidation Resistance 1 disrupts the spatial–temporal regulation of histone arginine methylation in neurodevelopment von Lin, Xiaolin, Wang, Wei, Yang, Mingyi, Damseh, Nadirah, Sousa, Mirta, Jacob, Fadi, lång, anna ulrika, Kristiansen, Elise, Pannone, Marco, Kissova, Miroslava, Almaas, Runar, Kusnierczyk, Anna, Siller, Richard, Shahrour, Maher, Al-Ashhab, Motee, Abu-Libdeh, Bassam, Tang, Wannan, Slupphaug, Geir, Elpeleg, Orly, Bøe, Stig Ove, Eide, Lars, Sullivan, Gareth John, Rinholm, Johanne Egge, Song, Hongjun, Ming, Guo-li, van Loon, Barbara, Edvardson, Simon, Ye, Jing, Bjørås, Magnar

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Broadening the phenotypic and molecular spectrum of FINCA syndrome: Biallelic NHLRC2 variants in 15 novel individuals von Sczakiel, Henrike L, Zhao, Max, Wollert-Wulf, Brigitte, Danyel, Magdalena, Ehmke, Nadja, Stoltenburg, Corinna, Damseh, Nadirah, Al-Ashhab, Motee, Balci, Tugce B, Osmond, Matthew, Andrade, Andrea, Schallner, Jens, Porrmann, Joseph, McDonald, Kimberly, Liao, Mingjuan, Oppermann, Henry, Platzer, Konrad, Dierksen, Nadine, Mojarrad, Majid, Eslahi, Atieh, Bakaeean, Behnaz, Calame, Daniel G, Lupski, James R, Firoozfar, Zahra, Seyedhassani, Seyed Mohammad, Mohammadi, Seyed Ahmad, Anwaar, Najwa, Rahman, Fatima, Seelow, Dominik, Janz, Martin, Horn, Denise, Maroofian, Reza, Boschann, Felix

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A loss-of-function mutation in human Oxidation Resistance 1 disrupts the spatial–temporal regulation of histone arginine methylation in neurodevelopment von Lin, Xiaolin, Wang, Wei, Yang, Mingyi, Damseh, Nadirah, de Sousa, Mirta M. L, Jacob, Fadi, Lång, Anna, Kristiansen, Elise, Pannone, Marco, Kissova, Miroslava, Almaas, Runar, Kuśnierczyk, Anna, Siller, Richard, Shahrour, Maher, Al-Ashhab, Motee, Abu-Libdeh, Bassam, Tang, Wannan, Slupphaug, Geir, Elpeleg, Orly, Bøe, Stig O, Eide, Lars, Sullivan, Gareth J, Rinholm, Johanne E, Song, Hongjun, Ming, Guo-li, van Loon, Barbara, Edvardson, Simon, Ye, Jing, Bjørås, Magnar

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Additional file 4 of A loss-of-function mutation in human Oxidation Resistance 1 disrupts the spatial–temporal regulation of histone arginine methylation in neurodevelopment von Lin, Xiaolin, Wang, Wei, Yang, Mingyi, Damseh, Nadirah, de Sousa, Mirta Mittelstedt Leal, Jacob, Fadi, Lång, Anna, Kristiansen, Elise, Pannone, Marco, Kissova, Miroslava, Almaas, Runar, Kuśnierczyk, Anna, Siller, Richard, Shahrour, Maher, Al-Ashhab, Motee, Abu-Libdeh, Bassam, Tang, Wannan, Slupphaug, Geir, Elpeleg, Orly, Bøe, Stig Ove, Eide, Lars, Sullivan, Gareth J., Rinholm, Johanne Egge, Song, Hongjun, Ming, Guo-li, van Loon, Barbara, Edvardson, Simon, Ye, Jing, Bjørås, Magnar

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Additional file 2 of A loss-of-function mutation in human Oxidation Resistance 1 disrupts the spatial–temporal regulation of histone arginine methylation in neurodevelopment von Lin, Xiaolin, Wang, Wei, Yang, Mingyi, Damseh, Nadirah, de Sousa, Mirta Mittelstedt Leal, Jacob, Fadi, Lång, Anna, Kristiansen, Elise, Pannone, Marco, Kissova, Miroslava, Almaas, Runar, Kuśnierczyk, Anna, Siller, Richard, Shahrour, Maher, Al-Ashhab, Motee, Abu-Libdeh, Bassam, Tang, Wannan, Slupphaug, Geir, Elpeleg, Orly, Bøe, Stig Ove, Eide, Lars, Sullivan, Gareth J., Rinholm, Johanne Egge, Song, Hongjun, Ming, Guo-li, van Loon, Barbara, Edvardson, Simon, Ye, Jing, Bjørås, Magnar

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