Hyung-Goo Kim

发表

Characterization of apparently balanced chromosomal rearrangements from the developmental genome anatomy project.

J. Shendure, M. MacDonald, S. Kulkarni, 2008, American journal of human genetics.

Sequencing Chromosomal Abnormalities Reveals Neurodevelopmental Loci that Confer Risk across Diagnostic Boundaries

Toshiro K. Ohsumi, M. Daly, J. Rosenfeld, 2012, Cell.

Inhibition of Upf2-Dependent Nonsense-Mediated Decay Leads to Behavioral and Neurophysiological Abnormalities by Activating the Immune Response

Melanie Bahlo, Bo T. Porse, Ola Larsson, 2019, Neuron.

Genetic Spectrum of Syndromic and Non-Syndromic Hearing Loss in Pakistani Families

Hyung-Goo Kim, T. Haaf, J. D. Labonne, 2020, Genes.

Epigenetic remodelling and dysregulation of DLGAP4 is linked with early-onset cerebellar ataxia

N. Papadopoulos, A. Silahtaroglu, Z. Tümer, 2014, Human molecular genetics.

Familial 46,XY sex reversal without campomelic dysplasia caused by a deletion upstream of the SOX9 gene

Yiping Shen, Hyung-Goo Kim, P. McDonough, 2014, Molecular and Cellular Endocrinology.

A microdeletion encompassing PHF21A in an individual with global developmental delay and craniofacial anomalies

Hyung-Goo Kim, J. D. Labonne, I. Kong, 2015, American journal of medical genetics. Part A.

WDR5-HOTTIP Histone Modifying Complex Regulates Neural Migration and Dendrite Polarity of Pyramidal Neurons via Reelin Signaling

Hyung-Goo Kim, Woo-Yang Kim, Minhan Ka, 2022, Molecular Neurobiology.

Analysis of Cytogenetic Abnormalities in Iranian Patients with Syndromic Autism Spectrum Disorder: A Case Series

Hyung-Goo Kim, M. Miryounesi, Farzad Hashemi-Gorji, 2022, Iranian journal of child neurology.

A Pilot Study on Autism Spectrum Disorders in Mali: Parental Concerns About Child Developmental Milestones and Late Diagnostic Age

Hyung-Goo Kim, M. Diakité, G. Awandare, 2020 .

Disruption of ROBO2 is associated with urinary tract anomalies and confers risk of vesicoureteral reflux.

J. Lupski, C. Wijmenga, S. Kulkarni, 2007, American journal of human genetics.

Comparative Genomic Mapping Implicates LRRK2 for Intellectual Disability and Autism at 12q12, and HDHD1, as Well as PNPLA4, for X-Linked Intellectual Disability at Xp22.31

Cheol‐Hee Kim, Janghoo Lim, Hyung-Goo Kim, 2020, Journal of clinical medicine.

Rarer syndromes characterized by hypogonadotropic hypogonadism.

Hyung-Goo Kim, L. Layman, T. Cheetham, 2010, Frontiers of hormone research.

Autism and Intellectual Disability-Associated KIRREL3 Interacts with Neuronal Proteins MAP1B and MYO16 with Potential Roles in Neurodevelopment

Hyung-Goo Kim, A. Srivastava, S. Sowell, 2015, PloS one.

Biallelic variants in WARS1 cause a highly variable neurodevelopmental syndrome and implicate a critical exon for normal auditory function

J. Rosenfeld, Hyung-Goo Kim, T. Haaf, 2022, Human mutation.

Unique phenotype in a patient with CHARGE syndrome

Hyung-Goo Kim, W. Wenzel, I. Meliciani, 2011, International journal of pediatric endocrinology.

A balanced chromosomal translocation involving chromosomes 3 and 16 in a patient with Mayer-Rokitansky-Kuster-Hauser syndrome reveals new candidate genes at 3p22.3 and 16p13.3

Hyung-Goo Kim, V. Kalscheuer, L. Layman, 2016, Molecular Cytogenetics.

A rigorous in silico genomic interrogation at 1p13.3 reveals 16 autosomal dominant candidate genes in syndromic neurodevelopmental disorders

K. R. Jun, Cheol‐Hee Kim, A. G. de la Fuente, 2022, Frontiers in Molecular Neuroscience.

Eif2b3 mutants recapitulate phenotypes of Vanishing White Matter Disease and validate novel disease alleles in zebrafish.

Cheol‐Hee Kim, Hyung-Goo Kim, Hoon-Chul Kang, 2021, Human molecular genetics.

The Body Size of Stimulus Conspecifics Affects Social Preference in a Binary Choice Task in Wild-Type, But Not in dyrk1aa Mutant, Zebrafish.

Cheol‐Hee Kim, Hyung-Goo Kim, R. Gerlai, 2019, Zebrafish.

Differential expression of nasal embryonic LHRH factor (NELF) variants in immortalized GnRH neuronal cell lines

Hyung-Goo Kim, L. Layman, Samuel D. Quaynor, 2014, Molecular and Cellular Endocrinology.

Delineation of a KDM2B-related neurodevelopmental disorder and its associated DNA methylation signature

Saskia M. J. Hopman, R. Pfundt, E. van Binsbergen, 2022, Genetics in medicine : official journal of the American College of Medical Genetics.

Deletion of TRPC6, an autism risk gene, induces hyperexcitability in cortical neurons derived from human pluripotent stem cells

A. G. de la Fuente, Hyung-Goo Kim, L. Stanton, 2022, bioRxiv.

Mind Bomb-Binding Partner RanBP9 Plays a Contributory Role in Retinal Development

Cheol‐Hee Kim, Hyung-Goo Kim, Y. Bae, 2017, Molecules and cells.

X-linked protocadherin 19 mutations cause female-limited epilepsy and cognitive impairment

Andrew Menzies, Sarah Edkins, Sara Widaa, 2008, Nature Genetics.

Balanced chromosomal rearrangements offer insights into coding and noncoding genomic features associated with developmental disorders

Erez Lieberman Aiden, Ryan L. Collins, S. G. Temel, 2022, medRxiv.

The Use of Whole Exome Sequencing in a Cohort of Transgender Individuals to Identify Rare Genetic Variants

Hyung-Goo Kim, J. Knight, L. Layman, 2019, Scientific Reports.

An atypical 12q24.31 microdeletion implicates six genes including a histone demethylase KDM2B and a histone methyltransferase SETD1B in syndromic intellectual disability

Cheol‐Hee Kim, Hyung-Goo Kim, J. D. Labonne, 2016, Human Genetics.

NELF is a nuclear protein involved in hypothalamic GnRH neuronal migration

Hyung-Goo Kim, W. Xiong, L. Layman, 2010, Molecular and Cellular Endocrinology.

The Molecular Basis of Impaired Follicle-Stimulating Hormone Action

Hyung-Goo Kim, L. Layman, H. K. Nishimoto, 2013, Reproductive Sciences.

Loss of Kallmann syndrome-associated gene WDR11 disrupts primordial germ cell development by affecting canonical and non-canonical Hedgehog signalling

Hyung-Goo Kim, D. Bennett, L. Layman, 2020, bioRxiv.

Steric Clash in the SET Domain of Histone Methyltransferase NSD1 as a Cause of Sotos Syndrome and Its Genetic Heterogeneity in a Brazilian Cohort

Hyung-Goo Kim, W. Wenzel, C. Kim, 2016, Genes.

Disruption of neurexin 1 associated with autism spectrum disorder.

Yiping Shen, Ilse Noens, Mark J Daly, 2008, American journal of human genetics.

Genotype and phenotype of patients with gonadotropin-releasing hormone receptor mutations.

Hyung-Goo Kim, L. Layman, J. Pedersen-White, 2010, Frontiers of hormone research.

Genetics of hypogonadotropic Hypogonadism—Human and mouse genes, inheritance, oligogenicity, and genetic counseling

Hyung-Goo Kim, L. Layman, Soo-Hyun Kim, 2021, Molecular and Cellular Endocrinology.

Clinical Manifestations of Impaired GnRH Neuron Development and Function

Hyung-Goo Kim, L. Layman, B. Bhagavath, 2008, Neurosignals.

NELF knockout is associated with impaired pubertal development and subfertility

Hyung-Goo Kim, L. Layman, J. Waller, 2015, Molecular and Cellular Endocrinology.

Positional Cloning of New Disease Genes for Kallmann Syndrome and Potocki-Shaffer Syndrome

Hyung-Goo Kim, 2012 .

WDR11, a WD protein that interacts with transcription factor EMX1, is mutated in idiopathic hypogonadotropic hypogonadism and Kallmann syndrome.

Cheol‐Hee Kim, M. Tekin, T. Nagase, 2010, American journal of human genetics.

Translocations disrupting PHF21A in the Potocki-Shaffer-syndrome region are associated with intellectual disability and craniofacial anomalies.

L. Shaffer, Cheol‐Hee Kim, M. MacDonald, 2012, American journal of human genetics.

Zebrafish knockout of Down syndrome gene, DYRK1A, shows social impairments relevant to autism

Cheol‐Hee Kim, C. Schwartz, Hyung-Goo Kim, 2017, Molecular Autism.

Mutations in CHD7, encoding a chromatin-remodeling protein, cause idiopathic hypogonadotropic hypogonadism and Kallmann syndrome.

M. Tekin, J. Gusella, S. Eom, 2008, American journal of human genetics.

The role of CHD7 and the newly identified WDR11 gene in patients with idiopathic hypogonadotropic hypogonadism and Kallmann syndrome

Hyung-Goo Kim, L. Layman, 2011, Molecular and Cellular Endocrinology.

Genetics of agenesis/hypoplasia of the uterus and vagina: narrowing down the number of candidate genes for Mayer–Rokitansky–Küster–Hauser Syndrome

H. Taylor, Hyung-Goo Kim, J. Capra, 2021, Human Genetics.

Targeted next generation sequencing approach identifies eighteen new candidate genes in normosmic hypogonadotropic hypogonadism and Kallmann syndrome

Jeong-Hyeon Choi, Hyung-Goo Kim, L. Layman, 2016, Molecular and Cellular Endocrinology.

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

Yiping Shen, Hyung-Goo Kim, J. D. Labonne, 2016, BMC Neurology.

Candidate loci for Zimmermann–Laband syndrome at 3p14.3

M. MacDonald, J. Gusella, C. Morton, 2007, American journal of medical genetics. Part A.

An atypical 12q24.31 microdeletion implicates six genes including a histone demethylase KDM2B and a histone methyltransferase SETD1B in syndromic intellectual disability

Cheol‐Hee Kim, Hyung-Goo Kim, J. D. Labonne, 2016, Human Genetics.

Comparative deletion mapping at 1p31.3-p32.2 implies NFIA responsible for intellectual disability coupled with macrocephaly and the presence of several other genes for syndromic intellectual disability

Yiping Shen, Hyung-Goo Kim, J. D. Labonne, 2016, Molecular Cytogenetics.

Expanding the Spectrum of Founder Mutations Causing Isolated Gonadotropin-Releasing Hormone Deficiency.

J. Gusella, R. Quinton, Hyung-Goo Kim, 2015, The Journal of clinical endocrinology and metabolism.

Gene expression profiling of the pre-implantation mouse embryo by microarray analysis: comparison of the two-cell stage and two-cell block.

Hyung-Goo Kim, K. Cha, K. Kwack, 2006, Theriogenology.

Spectrum of genes involved in a unique case of Potocki Schaffer syndrome with a large chromosome 11 deletion

Yiping Shen, C. Morton, Hyung-Goo Kim, 2014, Clinical neuropathology.

Transcriptome Analysis Revealed Impaired cAMP Responsiveness in PHF21A-Deficient Human Cells

Hyung-Goo Kim, H. Nagasu, R. S. Porter, 2017, Neuroscience.

Long-term follow-up of females with unbalanced X;Y translocations—reproductive and nonreproductive consequences

Hyung-Goo Kim, P. McDonough, L. Layman, 2015, Molecular Cytogenetics.

Human Chromosome 7: DNA Sequence and Biology

Junjun Zhang, Nazneen Rahman, Alexander K. Hudek, 2003, Science.

Extensive molecular genetic analysis of the 3p14.3 region in patients with Zimmermann–Laband syndrome

S. Mundlos, Yiping Shen, J. Gusella, 2007, American journal of medical genetics. Part A.

Delayed puberty and estrogen resistance in a woman with estrogen receptor α variant.

Yiping Shen, Hyung-Goo Kim, L. Layman, 2013, The New England journal of medicine.

Genetic analysis of Mayer-Rokitansky-Kuster-Hauser syndrome in a large cohort of families.

Yiping Shen, Hyung-Goo Kim, J. Phillips, 2017, Fertility and sterility.

Copy number variation and regions of homozygosity analysis in patients with MÜLLERIAN aplasia

Yiping Shen, Hyung-Goo Kim, G. Luleci, 2018, Molecular Cytogenetics.

A balanced chromosomal translocation involving chromosomes 3 and 16 in a patient with Mayer-Rokitansky-Kuster-Hauser syndrome reveals new candidate genes at 3p22.3 and 16p13.3

Hyung-Goo Kim, V. Kalscheuer, L. Layman, 2016, Molecular Cytogenetics.

Interstitial microduplication at 2p11.2 in a patient with syndromic intellectual disability: 30-year follow-up

K. R. Jun, Hyung-Goo Kim, R. Ullmann, 2014, Molecular Cytogenetics.

Interstitial microduplication at 2p11.2 in a patient with syndromic intellectual disability: 30-year follow-up

K. R. Jun, Hyung-Goo Kim, R. Ullmann, 2014, Molecular Cytogenetics.

Deficiency in the endocytic adaptor proteins PHETA1/2 impairs renal and craniofacial development

Graydon B. Gonsalvez, Hyung-Goo Kim, D. Adams, 2020, Disease Models & Mechanisms.

Deficiency in the endocytic adaptor protein PHETA1/2 impairs renal and craniofacial development

Graydon B. Gonsalvez, Hyung-Goo Kim, D. Adams, 2019, bioRxiv.

Contribution of copy number variants involving nonsense-mediated mRNA decay pathway genes to neuro-developmental disorders.

J. Rosenfeld, J. Gécz, L. Shaffer, 2013, Human molecular genetics.

Disruption of PHF21A causes syndromic intellectual disability with craniofacial anomalies, epilepsy, hypotonia, and neurobehavioral problems including autism

J. Rosenfeld, Cheol‐Hee Kim, O. Hummel, 2019, Molecular Autism.

Nasal embryonic LHRH factor (NELF) mutations in patients with normosmic hypogonadotropic hypogonadism and Kallmann syndrome.

N. Xu, Hyung-Goo Kim, W. Wenzel, 2011, Fertility and sterility.

Novel Loss-of-Function Variants in CDC14A are Associated with Recessive Sensorineural Hearing Loss in Iranian and Pakistani Patients

Hyung-Goo Kim, T. Haaf, F. Rüschendorf, 2020, International journal of molecular sciences.

Concomitant partial exon skipping by a unique missense mutation of RPS6KA3 causes Coffin-Lowry syndrome.

Hyung-Goo Kim, W. Wenzel, J. D. Labonne, 2016, Gene.

WDR11‐mediated Hedgehog signalling defects underlie a new ciliopathy related to Kallmann syndrome

Cheol‐Hee Kim, Hyung-Goo Kim, T. Raivio, 2017, EMBO reports.

WDR11‐mediated Hedgehog signalling defects underlie a new ciliopathy related to Kallmann syndrome

Cheol‐Hee Kim, Hyung-Goo Kim, T. Raivio, 2017, bioRxiv.

The presence of two rare genomic syndromes, 1q21 deletion and Xq28 duplication, segregating independently in a family with intellectual disability

Cheol‐Hee Kim, Yiping Shen, Hyung-Goo Kim, 2016, Molecular Cytogenetics.

The Use of Whole Exome Sequencing in a Cohort of Transgender Individuals to Identify Rare Genetic Variants

Hyung-Goo Kim, J. Knight, L. Layman, 2019, Scientific Reports.

Targeted knockout of a chemokine-like gene increases anxiety and fear responses

J. Rosenfeld, J. Gécz, M. Carl, 2018, Proceedings of the National Academy of Sciences.

Epilepsy Research in Mali: A Pilot Pharmacokinetics Study on First-Line Antiepileptic Drug Treatment

Hyung-Goo Kim, M. Diakité, K. Traore, 2020, Journal of epilepsy research.

A microdeletion del(12)(p11.21p11.23) with a cryptic unbalanced translocation t(7;12)(q21.13;q23.1) implicates new candidate loci for intellectual disability and Kallmann syndrome

Yiping Shen, C. Morton, Hyung-Goo Kim, 2023, Research square.

Genetic Analysis of Mayer-Rokitansky-Kuster-Hauser Syndrome (MRKH) Through Ascertainment of a Large Cohort of Families

Yiping Shen, Hyung-Goo Kim, L. Layman, 2018 .

The historical Coffin–Lowry syndrome family revisited: Identification of two novel mutations of RPS6KA3 in three male patients

Hyung-Goo Kim, L. Layman, Kyungsoo Ha, 2014, American journal of medical genetics. Part A.

Chd7 Is Critical for Early T-Cell Development and Thymus Organogenesis in Zebrafish.

Cheol‐Hee Kim, Hyung-Goo Kim, Zi-long Wang, 2018, The American journal of pathology.

Long-Term Follow Up and Treatment of a Female with Complete Estrogen Insensitivity.

J. Katzenellenbogen, K. Korach, Hyung-Goo Kim, 2020, The Journal of clinical endocrinology and metabolism.

Identification of HESX1 mutations in Kallmann syndrome.

Hyung-Goo Kim, L. Layman, L. Halvorson, 2013, Fertility and sterility.

The prevalence of digenic mutations in patients with normosmic hypogonadotropic hypogonadism and Kallmann syndrome.

Hyung-Goo Kim, D. Bick, L. Layman, 2011, Fertility and sterility.

Rare structural variants, aneuploidies, and mosaicism in individuals with Mullerian aplasia detected by optical genome mapping

Hyung-Goo Kim, R. Kolhe, L. Layman, 2023, Human Genetics.

The presence of two rare genomic syndromes, 1q21 deletion and Xq28 duplication, segregating independently in a family with intellectual disability

Cheol‐Hee Kim, Yiping Shen, Hyung-Goo Kim, 2016, Molecular Cytogenetics.

Digenic or oligogenic mutations in presumed monogenic disorders: A review

Hyung-Goo Kim, L. Layman, A. Ben-Mahmoud, 2023, Journal of Genetic Medicine.

A cryptic microdeletion del(12)(p11.21p11.23) within an unbalanced translocation t(7;12)(q21.13;q23.1) implicates new candidate loci for intellectual disability and Kallmann syndrome

Yiping Shen, C. Morton, Hyung-Goo Kim, 2023, Scientific reports.

Twenty‐year follow‐up of the facial phenotype of Brazilian patients with Sotos syndrome

Hyung-Goo Kim, C. Kim, L. Layman, 2021, American journal of medical genetics. Part A.

A genome-wide DNA methylation signature for SETD1B-related syndrome

Hyung-Goo Kim, N. Matsumoto, A. Essen, 2019, Clinical Epigenetics.

Coordination of canonical and noncanonical Hedgehog signalling pathways mediated by WDR11 during primordial germ cell development

Hyung-Goo Kim, D. Bennett, L. Layman, 2023, Scientific reports.