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ArticlesPeer ReviewedFull Text
Recent advances in epilepsy genomics and genetic testing [version 1; peer review: 2 approved]
Author / Creator:Hebbar, Malavika ; Mefford, Heather C
Publisher:England: Faculty of 1000 Ltd
Journal title:F1000 research, 2020, Vol.9, p.185
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ArticlesPeer ReviewedFull Text
Homozygous p.(Glu87Lys) variant in ISCA1 is associated with a multiple mitochondrial dysfunctions syndrome
Author / Creator:Shukla, Anju ; Hebbar, Malavika ; Srivastava, Anshika ; Kadavigere, Rajagopal ; Upadhyai, Priyanka ; Kanthi, Anil ; Brandau, Oliver ; Bielas, Stephanie ; Girisha, Katta M
Publisher:England: Nature Publishing Group
Journal title:Journal of human genetics, 2017-07, Vol.62 (7), p.723-727
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ArticlesPeer ReviewedFull Text
Identification of a novel LRRK1 mutation in a family with osteosclerotic metaphyseal dysplasia
Author / Creator:Guo, Long ; Girisha, Katta M ; Iida, Aritoshi ; Hebbar, Malavika ; Shukla, Anju ; Shah, Hitesh ; Nishimura, Gen ; Matsumoto, Naomichi ; Nismath, Shifa ; Miyake, Noriko ; Ikegawa, Shiro
Publisher:England: Nature Publishing Group
Journal title:Journal of human genetics, 2017-03, Vol.62 (3), p.437-441
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ArticlesPeer ReviewedFull Text
TREX tetramer disruption alters RNA processing necessary for corticogenesis in THOC6 Intellectual Disability Syndrome
Author / Creator:Werren, Elizabeth A. ; LaForce, Geneva R. ; Srivastava, Anshika ; Perillo, Delia R. ; Li, Shaokun ; Johnson, Katherine ; Baris, Safa ; Berger, Brandon ; Regan, Samantha L. ; Pfennig, Christian D. ; de Munnik, Sonja ; Pfundt, Rolph ; Hebbar, Malavika ; Jimenez-Heredia, Raúl ; Karakoc-Aydiner, Elif ; Ozen, Ahmet ; Dmytrus, Jasmin ; Krolo, Ana ; Corning, Ken ; Prijoles, E. J. ; Louie, Raymond J. ; Lebel, Robert Roger ; Le, Thuy-Linh ; Amiel, Jeanne ; Gordon, Christopher T. ; Boztug, Kaan ; Girisha, Katta M. ; Shukla, Anju ; Bielas, Stephanie L. ; Schaffer, Ashleigh E.
Publisher:London: Nature Publishing Group UK
Journal title:Nature communications, 2024-02, Vol.15 (1), p.1640-21, Article 1640
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ArticlesPeer ReviewedFull Text
A biallelic 36-bp insertion in PIBF1 is associated with Joubert syndrome
Author / Creator:Hebbar, Malavika ; Kanthi, Anil ; Shukla, Anju ; Bielas, Stephanie ; Girisha, Katta M
Publisher:London: Nature Publishing Group
Journal title:Journal of human genetics, 2018-07, Vol.63 (8), p.935-939
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ArticlesPeer ReviewedFull Text
Locus and allelic heterogeneity in five families with hereditary spastic paraplegia
Author / Creator:Hebbar, Malavika ; Shukla, Anju ; Nampoothiri, Sheela ; Bielas, Stephanie ; Girisha, Katta M
Publisher:England: Nature Publishing Group
Journal title:Journal of human genetics, 2019-01, Vol.64 (1), p.17-21
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ArticlesPeer ReviewedFull Text
Expanding the genotype-phenotype spectrum in SCN8A-related disorders
Author / Creator:Hebbar, Malavika ; Al-Taweel, Nawaf ; Gill, Inderpal ; Boelman, Cyrus ; Dean, Richard A. ; Goodchild, Samuel J. ; Mezeyova, Janette ; Shuart, Noah Gregory ; Johnson, J. P. ; Lee, James ; Michoulas, Aspasia ; Huh, Linda L. ; Armstrong, Linlea ; Connolly, Mary B. ; Demos, Michelle K.
Publisher:England: BioMed Central Ltd
Journal title:BMC neurology, 2024-01, Vol.24 (1), p.31-7, Article 31
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ArticlesPeer ReviewedFull Text
Homozygosity for a nonsense variant in AIMP2 is associated with a progressive neurodevelopmental disorder with microcephaly, seizures, and spastic quadriparesis
Author / Creator:Shukla, Anju ; Aneek Das Bhowmik ; Hebbar, Malavika ; Rajagopal, Kadavigere V ; Girisha, Katta M ; Gupta, Neerja ; Dalal, Ashwin
Publisher:London: Nature Publishing Group
Journal title:Journal of human genetics, 2018-01, Vol.63 (1), p.19
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ArticlesPeer ReviewedFull Text
Clinical and genetic spectrum of AMPD2-related pontocerebellar hypoplasia type 9
Author / Creator:Kortüm, Fanny ; Rami Abou Jamra ; Malik Alawi ; Berry, Susan A ; Borck, Guntram ; Helbig, Katherine L ; Tang, Sha ; Huhle, Dagmar ; Korenke, Georg Christoph ; Hebbar, Malavika ; Shukla, Anju ; Girisha, Katta M ; Steinlin, Maja ; Waldmeier-Wilhelm, Sandra ; Montomoli, Martino ; Guerrini, Renzo ; Lemke, Johannes R ; Kutsche, Kerstin
Publisher:Leiden: Nature Publishing Group
Journal title:European journal of human genetics : EJHG, 2018-05, Vol.26 (5), p.695-708
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ArticlesPeer ReviewedFull Text
A reply to a commentary on homozygous p.(Glu87Lys) variant in ISCA1 is associated with a multiple mitochondrial dysfunctions syndrome
Author / Creator:Shukla, Anju ; Hebbar, Malavika ; Girisha, Katta M
Publisher:England: Nature Publishing Group
Journal title:Journal of human genetics, 2017-09, Vol.62 (9), p.867-867
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ArticlesPeer ReviewedFull Text
Diagnostic utility of DNA methylation analysis in genetically unsolved pediatric epilepsies and CHD2 episignature refinement
Author / Creator:LaFlamme, Christy W. ; Rastin, Cassandra ; Sengupta, Soham ; Pennington, Helen E. ; Russ-Hall, Sophie J. ; Schneider, Amy L. ; Bonkowski, Emily S. ; Almanza Fuerte, Edith P. ; Allan, Talia J. ; Zalusky, Miranda Perez-Galey ; Goffena, Joy ; Gibson, Sophia B. ; Nyaga, Denis M. ; Lieffering, Nico ; Hebbar, Malavika ; Walker, Emily V. ; Darnell, Daniel ; Olsen, Scott R. ; Kolekar, Pandurang ; Djekidel, Mohamed Nadhir ; Rosikiewicz, Wojciech ; McConkey, Haley ; Kerkhof, Jennifer ; Levy, Michael A. ; Relator, Raissa ; Lev, Dorit ; Lerman-Sagie, Tally ; Park, Kristen L. ; Alders, Marielle ; Cappuccio, Gerarda ; Chatron, Nicolas ; Demain, Leigh ; Genevieve, David ; Lesca, Gaetan ; Roscioli, Tony ; Sanlaville, Damien ; Tedder, Matthew L. ; Gupta, Sachin ; Jones, Elizabeth A. ; Weisz-Hubshman, Monika ; Ketkar, Shamika ; Dai, Hongzheng ; Worley, Kim C. ; Rosenfeld, Jill A. ; Chao, Hsiao-Tuan ; Neale, Geoffrey ; Carvill, Gemma L. ; Wang, Zhaoming ; Berkovic, Samuel F. ; Sadleir, Lynette G. ; Miller, Danny E. ; Scheffer, Ingrid E. ; Sadikovic, Bekim ; Mefford, Heather C.
Publisher:London: Nature Publishing Group UK
Journal title:Nature communications, 2024-08, Vol.15 (1), p.6524-21, Article 6524
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ArticlesPeer ReviewedFull Text
Genetic diversity of NDUFV1-dependent mitochondrial complex I deficiency
Author / Creator:Srivastava, Anshika ; Srivastava, Kinshuk Raj ; Hebbar, Malavika ; Galada, Chelna ; Rajagopal Kadavigrere ; Su, Fengyun ; Cao, Xuhong ; Chinnaiyan, Arul M ; Girisha, Katta M ; Shukla, Anju ; Bielas, Stephanie L
Publisher:Leiden: Nature Publishing Group
Journal title:European journal of human genetics : EJHG, 2018-11, Vol.26 (11), p.1582-1587
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ArticlesPeer ReviewedFull Text
Classical cleidocranial dysplasia in an adult, due to a novel frameshift pathogenic variant in RUNX2
Author / Creator:Hebbar, Malavika ; Girisha, Katta M ; Shukla, Anju
Publisher:England: BMJ Publishing Group LTD
Journal title:BMJ case reports, 2016-05, Vol.2016, p.bcr2016215162
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ArticlesFull Text
Mechanisms of mRNA processing defects in inherited THOC6 intellectual disability syndrome
Author / Creator:Werren, Elizabeth A ; Laforce, Geneva R ; Srivastava, Anshika ; Perillo, Delia R ; Johnson, Katherine ; Berger, Brandon ; Safa Baris ; Regan, Samantha L ; Pfennig, Christian D ; De Munnik, Sonja ; Rolph Pfundt ; Hebbar, Malavika ; Jimenez-Heredia, Raul ; Karakoc-Aydiner, Elif ; Ozen, Ahmet ; Dmytrus, Jasmin ; Krolo, Ana ; Corning, Ken ; Prijoles, Ej ; Louie, Raymond ; Lebel, Robert ; Le, Thuy-Linh ; Gordon, Chris ; Girish, Katta M ; Boztug, Kaan ; Shukla, Anju ; Bielas, Stephanie L ; Schaffer, Ashleigh E
Publisher:Cold Spring Harbor: Cold Spring Harbor Laboratory Press
Journal title:bioRxiv, 2022-09
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ArticlesFull Text
Homozygous c.259G>A variant in ISCA1 is associated with a new multiple mitochondrial dysfunctions syndrome
Author / Creator:Shukla, Anju ; Hebbar, Malavika ; Srivastava, Anshika ; Rajagopal Kadavigere ; Upadhyai, Priyanka ; Kanthi, Anil ; Brandau, Oliver ; Bielas, Stephanie ; Katta Girisha
Publisher:Cold Spring Harbor: Cold Spring Harbor Laboratory Press
Journal title:bioRxiv, 2016-11
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Recent advances in epilepsy genomics and genetic testing [version 1; peer review: 2 approved]

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Homozygous p.(Glu87Lys) variant in ISCA1 is associated with a multiple mitochondrial dysfunctions syndrome

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Identification of a novel LRRK1 mutation in a family with osteosclerotic metaphyseal dysplasia

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TREX tetramer disruption alters RNA processing necessary for corticogenesis in THOC6 Intellectual Disability Syndrome

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A biallelic 36-bp insertion in PIBF1 is associated with Joubert syndrome

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Locus and allelic heterogeneity in five families with hereditary spastic paraplegia

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Expanding the genotype-phenotype spectrum in SCN8A-related disorders

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Homozygosity for a nonsense variant in AIMP2 is associated with a progressive neurodevelopmental disorder with microcephaly, seizures, and spastic quadriparesis

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Clinical and genetic spectrum of AMPD2-related pontocerebellar hypoplasia type 9

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A reply to a commentary on homozygous p.(Glu87Lys) variant in ISCA1 is associated with a multiple mitochondrial dysfunctions syndrome

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Diagnostic utility of DNA methylation analysis in genetically unsolved pediatric epilepsies and CHD2 episignature refinement

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Genetic diversity of NDUFV1-dependent mitochondrial complex I deficiency

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Classical cleidocranial dysplasia in an adult, due to a novel frameshift pathogenic variant in RUNX2

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Mechanisms of mRNA processing defects in inherited THOC6 intellectual disability syndrome

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Homozygous c.259G>A variant in ISCA1 is associated with a new multiple mitochondrial dysfunctions syndrome

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