Skip to main page content
U.S. flag

An official website of the United States government

Dot gov

The .gov means it’s official.
Federal government websites often end in .gov or .mil. Before sharing sensitive information, make sure you’re on a federal government site.

Https

The site is secure.
The https:// ensures that you are connecting to the official website and that any information you provide is encrypted and transmitted securely.

Access keys NCBI Homepage MyNCBI Homepage Main Content Main Navigation

Search Page

Filters

My NCBI Filters

Text availability

Article attribute

Article type

Publication date

Search Results

141 results

Filters applied: . Clear all
Results are displayed in a computed author sort order. The Results By Year timeline is not available.
Page 1
Disruption of PHF21A causes syndromic intellectual disability with craniofacial anomalies, epilepsy, hypotonia, and neurobehavioral problems including autism.
Kim HG, Rosenfeld JA, Scott DA, Bénédicte G, Labonne JD, Brown J, McGuire M, Mahida S, Naidu S, Gutierrez J, Lesca G, des Portes V, Bruel AL, Sorlin A, Xia F, Capri Y, Muller E, McKnight D, Torti E, Rüschendorf F, Hummel O, Islam Z, Kolatkar PR, Layman LC, Ryu D, Kong IK, Madan-Khetarpal S, Kim CH. Kim HG, et al. Among authors: kong ik. Mol Autism. 2019 Oct 22;10:35. doi: 10.1186/s13229-019-0286-0. eCollection 2019. Mol Autism. 2019. PMID: 31649809 Free PMC article.
Novel Loss-of-Function Variants in CDC14A are Associated with Recessive Sensorineural Hearing Loss in Iranian and Pakistani Patients.
Doll J, Kolb S, Schnapp L, Rad A, Rüschendorf F, Khan I, Adli A, Hasanzadeh A, Liedtke D, Knaup S, Hofrichter MA, Müller T, Dittrich M, Kong IK, Kim HG, Haaf T, Vona B. Doll J, et al. Among authors: kong ik. Int J Mol Sci. 2020 Jan 2;21(1):311. doi: 10.3390/ijms21010311. Int J Mol Sci. 2020. PMID: 31906439 Free PMC article.
Genetic Spectrum of Syndromic and Non-Syndromic Hearing Loss in Pakistani Families.
Doll J, Vona B, Schnapp L, Rüschendorf F, Khan I, Khan S, Muhammad N, Alam Khan S, Nawaz H, Khan A, Ahmad N, Kolb SM, Kühlewein L, Labonne JDJ, Layman LC, Hofrichter MAH, Röder T, Dittrich M, Müller T, Graves TD, Kong IK, Nanda I, Kim HG, Haaf T. Doll J, et al. Among authors: kong ik. Genes (Basel). 2020 Nov 11;11(11):1329. doi: 10.3390/genes11111329. Genes (Basel). 2020. PMID: 33187236 Free PMC article.
Biallelic variants in WARS1 cause a highly variable neurodevelopmental syndrome and implicate a critical exon for normal auditory function.
Lin SJ, Vona B, Porter HM, Izadi M, Huang K, Lacassie Y, Rosenfeld JA, Khan S, Petree C, Ali TA, Muhammad N, Khan SA, Muhammad N, Liu P, Haymon ML, Rüschendorf F, Kong IK, Schnapp L, Shur N, Chorich L, Layman L, Haaf T, Pourkarimi E, Kim HG, Varshney GK. Lin SJ, et al. Among authors: kong ik. Hum Mutat. 2022 Oct;43(10):1472-1489. doi: 10.1002/humu.24435. Epub 2022 Jul 21. Hum Mutat. 2022. PMID: 35815345
A rigorous in silico genomic interrogation at 1p13.3 reveals 16 autosomal dominant candidate genes in syndromic neurodevelopmental disorders.
Ben-Mahmoud A, Jun KR, Gupta V, Shastri P, de la Fuente A, Park Y, Shin KC, Kim CA, da Cruz AD, Pinto IP, Minasi LB, Silva da Cruz A, Faivre L, Callier P, Racine C, Layman LC, Kong IK, Kim CH, Kim WY, Kim HG. Ben-Mahmoud A, et al. Among authors: kong ik. Front Mol Neurosci. 2022 Oct 6;15:979061. doi: 10.3389/fnmol.2022.979061. eCollection 2022. Front Mol Neurosci. 2022. PMID: 36277487 Free PMC article.
141 results