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Case Report: Whole Exome Sequencing Unveils an Inherited Truncating Variant in CNTN6 (p.Ser189Ter) in a Mexican Child with Autism Spectrum Disorder.

• Authors : García-Ortiz, José E.¹; Zarazúa-Niño, Ana I.²; Hernández-Orozco, Angélica A.¹

• Source: Journal of Autism & Developmental Disorders; Jun2020, Vol. 50 Issue 6, p2247-2251, 5p, 1 Chart, 1 Graph

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Two novel pathogenic variants in MED13L: one familial and one isolated case.

• Authors : Carvalho, L. M. L.¹, ; da Costa, S. S.¹, ; Campagnari, F.²

• Source: Journal of Intellectual Disability Research; Dec2021, Vol. 65 Issue 12, p1049-1057, 9p, 1 Color Photograph, 1 Diagram

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Diagnostic exome sequencing in persons with severe intellectual disability.

• Authors : Reading, Richard

Subjects: INTELLECTUAL disabilities; GENES; GENETIC mutation

• Source: Child: Care, Health & Development. Mar2013, Vol. 39 Issue 2, p301-301. 1p.

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Parents' views of benefits and limitations of receiving genetic diagnoses for their offspring.

• Authors : Klitzman, Robert (AUTHOR); Bezborodko, Ekaterina (AUTHOR); Chung, Wendy K. (AUTHOR)

Subjects: PARENT attitudes; GENETICS; GENETIC testing

• Source: Child: Care, Health & Development. Jan2024, Vol. 50 Issue 1, p1-11. 11p.

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Identification of a Novel Pathogenic Variant in the NAGLU Gene in a Child with Neurodevelopmental Delay.

• Authors : Bruno, Lucia Pia^1,2; Fava, Francesca^1,2,3; Baldassarri, Margherita^1,2

• Source: Journal of Autism & Developmental Disorders; Oct2022, Vol. 52 Issue 10, p4605-4607, 3p, 1 Color Photograph, 1 Graph

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Big Data, Big Challenges.

• Authors : Hesman Saey, Tina

Subjects: REPLICATION (Experimental design); MICROBIOLOGY; GENETIC research

• Source: Science News. 2/7/2015, Vol. 187 Issue 3, p22-27. 6p. 2 Color Photographs, 6 Graphs.

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DNA diversity data offer disease clues.

• Authors : SAEY, TINA HESMAN

Subjects: EXOMES; HUMAN genetic variation; DNA

• Source: Science News. 9/17/2016, Vol. 190 Issue 6, p8-8. 1p. 1 Graph.

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