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Heterozygous variants in MYH10 associated with neurodevelopmental disorders and congenital anomalies with evidence for primary cilia-dependent defects in Hedgehog signaling

von Holtz, Alexander M ; VanCoillie, Rachel ; Vansickle, Elizabeth A ; et al.

Genetics in Medicine, vol 24, iss 10

Schlagworte: 31 Biological Sciences (for-2020); 3105 Genetics (for-2020); Genetics (rcdc); Congenital Structural Anomalies (rcdc); Pediatric (rcdc); Neurosciences (rcdc); Clinical Research (rcdc); 2.1 Biological and endogenous factors (hrcs-rac); Actins (mesh); Cilia (mesh); Hedgehog Proteins (mesh); Humans (mesh); Myosin Heavy Chains (mesh); Neurodevelopmental Disorders (mesh); Nonmuscle Myosin Type IIB (mesh); Hedgehog signaling; MYH10; Neurodevelopmental disorder; Nonmuscle myosin; Primary cilia; 0604 Genetics (for); 1103 Clinical Sciences (for); Genetics & Heredity (science-metrix)
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8
A Recurrent De Novo Heterozygous COG4 Substitution Leads to Saul-Wilson Syndrome, Disrupted Vesicular Trafficking, and Altered Proteoglycan Glycosylation

von Ferreira, Carlos R. ; Xia, Zhi-Jie ; Clément, Aurélie ; et al.

In The American Journal of Human Genetics 4 October 2018 103(4):553-567
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Loss of UGP2 in brain leads to a severe epileptic encephalopathy, emphasizing that bi-allelic isoform-specific start-loss mutations of essential genes can cause genetic diseases

von Perenthaler, Elena ; Nikoncuk, Anita ; Yousefi, Soheil ; et al.

Acta Neuropathologica: Pathology and Mechanisms of Neurological Disease. 139(3):415-442
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Evaluation of DNA Methylation Episignatures for Diagnosis and Phenotype Correlations in 42 Mendelian Neurodevelopmental Disorders

von Aref-Eshghi, Erfan ; Kerkhof, Jennifer ; Pedro, Victor P. ; et al.

The American Journal of Human Genetics ; volume 108, issue 6, page 1161-1163 ; ISSN 0002-9297
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11
Evaluation of the quality of clinical data collection for a pan-Canadian cohort of children affected by inherited metabolic diseases: lessons learned from the Canadian Inherited Metabolic Diseases Research Network

von Tingley, Kylie ; Lamoureux, Monica ; Pugliese, Michael ; et al.
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A recurrent de novo HSPD1 variant is associated with hypomyelinating leukodystrophy

von Cömert, Cagla ; Brick, Lauren ; Ang, Debbie ; et al.

Cömert, C, Brick, L, Ang, D, Palmfeldt, J, Meaney, B F, Kozenko, M, Georgopoulos, C, Fernandez-Guerra, P & Bross, P 2020, 'A recurrent de novo HSPD1 variant is associated with hypomyelinating leukodystrophy', Cold Spring Harbor molecular case studies, vol. 6, no. 3, a004879. https://doi.org/10.1101/mcs.a004879
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Bi-allelic Loss of Human APC2, Encoding Adenomatous Polyposis Coli Protein 2, Leads to Lissencephaly, Subcortical Heterotopia, and Global Developmental Delay

von Lee, Sangmoon ; Chen, Dillon Y ; Zaki, Maha S ; et al.

American Journal of Human Genetics, vol 105, iss 4

Schlagworte: 31 Biological Sciences (for-2020); Cancer (rcdc); Digestive Diseases (rcdc); Brain Disorders (rcdc); Rare Diseases (rcdc); Congenital Structural Anomalies (rcdc); Clinical Research (rcdc); Neurosciences (rcdc); Intellectual and Developmental Disabilities (IDD) (rcdc); Pediatric (rcdc); Neurological (hrcs-hc); Alleles (mesh); Classical Lissencephalies and Subcortical Band Heterotopias (mesh); Cytoskeletal Proteins (mesh); Developmental Disabilities (mesh); Female (mesh); Humans (mesh); Lissencephaly (mesh); Male (mesh); Pedigree (mesh); APC2; agyria; band heterotopia; epilepsy; intellectual disability; lissencephaly; neuronal migration; pachygyria; 06 Biological Sciences (for); 11 Medical and Health Sciences (for)
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De novo mutations in the GTP/GDP-binding region of RALA, a RAS-like small GTPase, cause intellectual disability and developmental delay

von Hiatt, Susan, M ; Neu, Matthew, B ; Ramaker, Ryne, C ; et al.

ISSN: 1553-7390.

Schlagworte: MESH: Developmental Disabilities; MESH: Facies; MESH: Mutation; Missense; MESH: Phenotype; MESH: Protein Conformation; MESH: Protein Interaction Domains and Motifs; MESH: ral GTP-Binding Proteins; MESH: ras Proteins; MESH: Genotype; MESH: Guanosine Diphosphate; MESH: Guanosine Triphosphate; MESH: Humans; MESH: Intellectual Disability; MESH: Mitochondrial Proteins; MESH: Models; Molecular; [SDV]Life Sciences [q-bio]
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15
De Novo and Inherited Loss-of-Function Variants in TLK2:Clinical and Genotype-Phenotype Evaluation of a Distinct Neurodevelopmental Disorder

von Reijnders,Margot R.F. ; Miller,Kerry A. ; Alvi,Mohsan ; et al.

Schlagworte: facial averaging; haploinsufficiency; intellectual disability; kinase; Tousled-like; Genetics; Genetics(clinical)
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De Novo and inherited loss-of-function variants in TLK2: Clinical and genotype-phenotype evaluation of a distinct neurodevelopmental disorder

von Reijnders, Margot R.F. ; Miller, Kerry A. ; Alvi, Mohsan ; et al.
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17
De Novo and Inherited Loss-of-Function Variants in TLK2 :Clinical and Genotype-Phenotype Evaluation of a Distinct Neurodevelopmental Disorder

von Reijnders, Margot R. F. ; Miller, Kerry A. ; Alvi, Mohsan ; et al.

Reijnders, M R F, Miller, K A, Alvi, M, Goos, J A C, Lees, M M, de Burca, A, Henderson, A, Kraus, A, Mikat, B, de Vries, B B A, Isidor, B, Kerr, B, Marcelis, C, Schluth-Bolard, C, Deshpande, C, Ruivenkamp, C A L, Wieczorek, D, Baralle, D, Blair, E M, Engels, H, Ludecke, H-J, Eason, J, Santen, G W E, Clayton-Smith, J, Chandler, K, Tatton-Brown, K, Payne, K, Helbig, K, Radtke, K, Nugent, K M, Cremer, K, Strom, T M, Bird, L M, Sinnema, M, Bitner-Glindzicz, M, van Dooren, M F, Alders, M, Koopmans, M, Brick, L, Kozenko, ....

Schlagworte: TOUSLED-LIKE KINASES; GENES; MUTATIONS; Cell Line; Translocation; Genetic; Genetic Association Studies; Humans; Protein Kinases/genetics; Child; Preschool; Infant; Male; Loss of Function Mutation/genetics; RNA; Messenger/genetics; Young Adult; Inheritance Patterns/genetics; Base Sequence; Adolescent; Facies; Adult; Female; Neurodevelopmental Disorders/genetics
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18
De novo mutations in the GTP/GDP-binding region of RALA, a RAS-like small GTPase, cause intellectual disability and developmental delay

von Hiatt, Susan M. ; Neu, Matthew B. ; Ramaker, Ryne C. ; et al.

Schlagworte: Genetics; Developmental disabilities--Genetic aspects; Guanosine triphosphatase; Recombinant proteins
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19
Phenotype Presentation for a Novel Mutation Affecting a Conserved Cysteine Residue in Exon 63 of Fibrillin-1 (Cys2633Arg)

von Stevic, Ivan ; Kozenko, Mariya ; LoStracco, Robert ; et al.

Biochemical Genetics. June 2014 52(5-6):225-232
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20
Mosaicism of the UDP-Galactose Transporter SLC35A2 Causes a Congenital Disorder of Glycosylation

von Ng, Bobby G. ; Buckingham, Kati J. ; Raymond, Kimiyo ; et al.

The American Journal of Human Genetics ; volume 92, issue 4, page 632-636 ; ISSN 0002-9297
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21
Expanding the Phenotype: Neurodevelopmental Disorder, Mitochondrial, With Abnormal Movements and Lactic Acidosis, With or Without Seizures (NEMMLAS) due to WARS2 Biallelic Variants, Encoding Mitochondrial Tryptophanyl-tRNA Synthase

von Virdee, Manveen ; Swarnalingam, Eroshini ; Kozenko, Mariya ; et al.

Journal of Child Neurology ; volume 34, issue 12, page 778-781 ; ISSN 0883-0738 1708-8283
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22
De Novo and Inherited Loss-of-Function Variants in TLK2: Clinical and Genotype-Phenotype Evaluation of a Distinct Neurodevelopmental Disorder

von Genetica ; Genetica Klinische Genetica ; Child Health ; et al.
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23
De Novo and Inherited Loss-of-Function Variants in TLK2: Clinical and Genotype-Phenotype Evaluation of a Distinct Neurodevelopmental Disorder.

von Reijnders, Margot RF ; Miller, Kerry A ; Alvi, Mohsan ; et al.

American journal of human genetics; vol 102, iss 6, 1195-1203; 0002-9297

Schlagworte: Deciphering Developmental Disorders Study; Cell Line; Humans; Translocation; Genetic; Facies; Protein Kinases; RNA; Messenger; Base Sequence; Inheritance Patterns; Adolescent; Adult; Child; Preschool; Infant; Female; Male; Young Adult; Genetic Association Studies; Neurodevelopmental Disorders; Loss of Function Mutation; Tousled-like; facial averaging; haploinsufficiency; intellectual disability; kinase; Biotechnology; Clinical Research; Brain Disorders; Neurosciences; Human Genome; Genetics; Aetiology; 2.1 Biological and endogenous factors; Biological Sciences; Medical and Health Sciences; Genetics & Heredity; article
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24
Lethal Neonatal Rigidity and Multifocal Seizure Syndrome—A Misnamed Disorder?

von Hanes, Ilana ; Kozenko, Mariya ; Callen, David J.A.

Pediatric Neurology ; volume 53, issue 6, page 535-540 ; ISSN 0887-8994
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25
Potential teratogenic effects of allopurinol: A case report

von Kozenko, Mariya ; Grynspan, David ; Oluyomi‐Obi, Titi ; et al.

American Journal of Medical Genetics Part A ; volume 155, issue 9, page 2247-2252 ; ISSN 1552-4825 1552-4833
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