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A microdeletion at Xq22.2 implicates a glycine receptor GLRA4 involved in intellectual disability, behavioral problems and craniofacial anomaliesopen access

Labonne, Jonathan D. J.; Graves, Tyler D.; Shen, Yiping; Jones, Julie R.; Kong, Il-Keun; Layman, Lawrence C.; Kim, Hyung-Goo

ArticleIssue Date2016CitationBMC NEUROLOGY, v.16PublisherBMC
SCISCIESCOPUS
A Microdeletion Encompassing PHF21A in an Individual with Global Developmental Delay and Craniofacial Anomalies

Labonne, Jonathan D. J.; Vogt, Julie; Reali, Lisa; Kong, Il-Keun; Layman, Lawrence C.; Kim, Hyung-Goo

ArticleIssue Date2015CitationAMERICAN JOURNAL OF MEDICAL GENETICS PART A, v.167, no.12, pp 3011 - 3018PublisherWILEY-BLACKWELL
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A rigorous in silico genomic interrogation at 1p13.3 reveals 16 autosomal dominant candidate genes in syndromic neurodevelopmental disordersopen access

Ben-Mahmoud, Afif; Jun, Kyung Ran; Gupta, Vijay; Shastri, Pinang; de la Fuente, Alberto; Park, Yongsoo; Shin, Kyung Chul; Kim, Chong Ae; da Cruz, Aparecido Divino; Pinto, Irene Plaza, et al.

ArticleIssue Date2022CitationFrontiers in Molecular Neuroscience, v.15PublisherFrontiers Media S.A.
SCISCIESCOPUS
An atypical 12q24.31 microdeletion implicates six genes including a histone demethylase KDM2B and a histone methyltransferase SETD1B in syndromic intellectual disability

Labonne, Jonathan D. J.; Lee, Kang-Han; Iwase, Shigeki; Kong, Il-Keun; Diamond, Michael P.; Layman, Lawrence C.; Kim, Cheol-Hee; Kim, Hyung-Goo

ArticleIssue Date2016CitationHUMAN GENETICS, v.135, no.7, pp 757 - 771PublisherSPRINGER
SCIESCOPUS
Biallelic variants in WARS1 cause a highly variable neurodevelopmental syndrome and implicate a critical exon for normal auditory functionopen access

Lin, Sheng-Jia; Vona, Barbara; Porter, Hillary M.; Izadi, Mahmoud; Huang, Kevin; Lacassie, Yves; Rosenfeld, Jill A.; Khan, Saadullah; Petree, Cassidy; Ali, Tayyiba A., et al.

ArticleIssue Date2022CitationHuman Mutation, v.43, no.10, pp 1472 - 1489PublisherJohn Wiley & Sons Inc.
SCIESCOPUS
Comparative deletion mapping at 1p31.3p32.2 implies NFIA responsible for intellectual disability coupled with macrocephaly and the presence of several other genes for syndromic intellectual disabilityopen access

Labonne, Jonathan D. J.; Shen, Yiping; Kong, Il-Keun; Diamond, Michael P.; Layman, Lawrence C.; Kim, Hyung-Goo

ArticleIssue Date2016CitationMOLECULAR CYTOGENETICS, v.9PublisherBMC
SCIESCOPUS
Comparative Genomic Mapping Implicates LRRK2 for Intellectual Disability and Autism at 12q12, and HDHD1, as Well as PNPLA4, for X-Linked Intellectual Disability at Xp22.31open access

Labonne, Jonathan D. J.; Driessen, Terri M.; Harris, Marvin E.; Kong, Il-Keun; Brakta, Soumia; Theisen, John; Sangare, Modibo; Layman, Lawrence C.; Kim, Cheol-Hee; Lim, Janghoo, et al.

ArticleIssue Date2020CitationJOURNAL OF CLINICAL MEDICINE, v.9, no.1PublisherMDPI
SCIESCOPUS
Disruption of PHF21A causes syndromic intellectual disability with craniofacial anomalies, epilepsy, hypotonia, and neurobehavioral problems including autismopen access

Kim, Hyung-Goo; Rosenfeld, Jill A.; Scott, Daryl A.; Benedicte, Gerard; Labonne, Jonathan D.; Brown, Jason; McGuire, Marianne; Mahida, Sonal; Naidu, Sakkubai; Gutierrez, Jacqueline, et al.

ArticleIssue Date2019CitationMOLECULAR AUTISM, v.10, no.1PublisherBMC
SCIESCOPUS
Genetic Spectrum of Syndromic and Non-Syndromic Hearing Loss in Pakistani Familiesopen access

Doll, Julia; Vona, Barbara; Schnapp, Linda; Rueschendorf, Franz; Khan, Imran; Khan, Saadullah; Muhammad, Noor; Alam Khan, Sher; Nawaz, Hamed; Khan, Ajmal, et al.

ArticleIssue Date2020CitationGENES, v.11, no.11, pp 1 - 16PublisherMDPI
SCIESCOPUS
Novel Loss-of-Function Variants in CDC14A are Associated with Recessive Sensorineural Hearing Loss in Iranian and Pakistani Patientsopen access

Doll, Julia; Kolb, Susanne; Schnapp, Linda; Rad, Aboulfazl; Ruschendorf, Franz; Khan, Imran; Adli, Abolfazl; Hasanzadeh, Atefeh; Liedtke, Daniel; Knaup, Sabine, et al.

ArticleIssue Date2020CitationINTERNATIONAL JOURNAL OF MOLECULAR SCIENCES, v.21, no.1PublisherMDPI
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