Dr. Hyung-Goo Kim | Hamad Bin Khalifa University
Hamad Bin Khalifa University


Dr. Hyung-Goo Kim

Dr. Hyung-Goo Kim

Senior Scientist
Neurological Disorders Research Center
Qatar Biomedical Research Institute


Dr. Hyung-Goo Kim studied Chemistry and Biochemistry at the University of Göttingen in Germany and graduated with a BSc and MSc degree. He then received his PhD at the Free University of Berlin in conjunction with Max-Planck-Institute for Molecular Genetics under Dr. Hans-Hilger Ropers, an eminent human geneticist.

In the past, Dr. Kim and his group successfully employed positional cloning strategy and candidate gene approach to identify disease-genes. This resulted in the identification of 4 novel disease-genes -NRXN1 for autism, and PHF21A for intellectual disability combined with craniofacial anomalies. He also identified the two novel disease-genes: WDR11 and CHD7, in Kallmann syndrome, characterized by anosmia and delayed puberty. Each of these were major contributions to their respective areas of human molecular genetics.

After working on the Developmental Genome Anatomy Project (DGAP) under Dr. James Gusella at Harvard Medical School for five years, Dr. Kim worked as an Associate Professor at the Medical College of Georgia at the Augusta University from 2013 to 2018.

He has extensively traveled to Tunisia, Morocco, Mali, Burkina Faso, Benin, Niger, Nigeria, Turkey, Pakistan, Afghanistan, Oman, and other countries within the Middle-East to establish collaboration in autosomal recessive disease gene discovery from consanguineous families with human developmental disorders.

He moved to Doha, Qatar in August 2018 and is now working on identifying disease genes and their underlying molecular mechanism in children and consanguineous families with neurodevelopmental disorders including autism and intellectual disability. He is a Senior Scientist at Qatar Biomedical Research Institute (QBRI) and Adjunct Associate Professor at Augusta University, the only state medical and dental college in Georgia in the US.

Research Interests

Dr. Kim has been working on positional cloning to identify disease genes involved in human developmental disorders for the last 20 years.

As a gene hunter, he takes advantage of naturally occurring chromosomal rearrangements such as balanced translocations and balanced inversions as well as submicroscopic small genomic deletions and duplications to map the autosomal dominant or X-linked recessive disease genes including autism, intellectual disability, Tourette syndrome, dyslexia, language/speech delay, epilepsy, craniofacial anomalies, and body integrity identity disorder (BIID).

In a large family with multiple affected members, he uses haplotype analysis, whereas whole exome/genome sequencing will be applied to sporadic cases with de novo mutations.

He also has been working on the disease gene discovery of autosomal recessive genetic disorders of developmental importance by their homozygous mutations in subjects with consanguineous marriages from Qatar, Mali, Pakistan, Iran, Turkey, Nigeria, Niger, and Tunisia. Enrolled subjects are based upon the presence of consanguineous marriages in conjunction with abnormal phenotypes. Currently his focus is to identify new disease genes involved in autism, intellectual disability, hearing loss/deafness, craniofacial anomalies, microcephaly, polydactyly, blindness, skeletal dysplasia, and dwarfism by using homozygosity mapping combined with whole exome/genome sequencing.

His goal is to understand the genetic underpinnings and molecular pathways involved by identifying novel genes in human developmental disorders. This will not only enable accurate molecular diagnosis and a better prognosis in the patients, but also eventual development of medical and therapeutic interventions in the genetic disorders.

  • Disease gene discovery in autosomal dominant syndromic and non-syndromic autism and intellectual disability.
  • Disease gene discovery in autosomal recessive syndromic and non-syndromic autism, intellectual disability, hearing loss, polydactyly, skeletal anomalies, blindness, and dwarfism.
  • Identification of disease genes involved in body integrity identity disorder (BIID).
  • Development of high-sensitivity DNA genosensor detecting low-dose radiation.

Selected Publications

  • Lee YR, Kim SH, Ben-Mahmoud A, Kim OH, Choi TI, Lee KH, Ku B, Eum J, Kee Y, Lee S, Cha J, Won D, Lee ST, Choi JR, Lee JS, Kim HD, Kim HG* (co-corresponding author), Bonkowsky JL*, Kang HC*, Kim CH*.

    Eif2b3 mutants recapitulate phenotypes of vanishing white matter disease and validate novel disease alleles in zebrafish. Hum Mol Genet. 2021;30(5):331-342.

  • 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* (co-corresponding author) and Haaf T. Genetic spectrum of syndromic and non-syndromic hearing loss in Pakistani families. GENES (Basel) 2020 Nov 11;11(11).

  • Labonne JDJ, Driessen TM, Harris ME, Kong IK, Brakta S, Theisen JG, Sangare M, Layman LC, Kim CH, Lim J, Kim HG* (corresponding author).

    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. J Clin Med. 2020 Jan 19;9(1):274.

  • Kim HG* (corresponding author), 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

    Disruption of PHF21A causes syndromic intellectual disability with craniofacial anomalies, epilepsy, hypotonia, and neurobehavioral problems including autism. Molecular Autism. 2019 Oct 22;10:35.

  • Kim HG*, Kishikawa S, Higgins A, Seong IS, Donovan D, Shen Y, Lally E, Weiss L, Najm J, Kutsche K, Descartes M, Holt L, Braddock S, Troxell R, Kaplan L, Volkmar F, Klin A, Tsatsanis K, Noens I, Pauls D, Daly MJ, MacDonald ME, Morton CC, Quad BJ, Gusella J

    Disruption of neurexin 1 associated with autism specrum disorder. Am J Hum Genet 2008; 82(1):199-207.


  • Kim HG, Kurth I, Lan F, Meliciani I, Wenzel W, Eom SH, Kang GB, Rosenberger G, Tekin M, Ozata M, Bick DP, Sherins RJ, Walker SL, Shi Y, Gusella JF, Layman LC.

    Mutations in CHD7, Encoding a Chromatin-Remodeling Protein Cause Idiopathic Hypogonadotropic Hypogonadism and Kallmann Syndrome. Am J Hum Genet 2008; 83(4):511-519.


  • Kim HG, Ahn JW, Kurth I, Ullmann R, Kim HT, Kulharya A, Ha KS, Itokawa Y, Meliciani I, Wenzel W, Lee D, Rosenberger G, Ozata M, Bick DP, Sherins RJ, Nagase T, Tekin M, Kim SH, Kim CH, Ropers HH, Gusella JF, Kalscheuer V, Choi CY and Layman LC*.

    WDR11, a WD Protein that Interacts with Transcription Factor EMX1, Is Mutated in Idiopathic Hypogonadotropic Hypogonadism and Kallmann Syndrome. Am J Hum Genet 2010; 87(4):465-479


  • Kim HG, Kim HT, Leach NT, Lan F, Ullmann R, Silahtaroglu A, Kurth I, Nowka A, Seong IS, Shen Y, Talkowski ME, Ruderfer D, Lee JH, Glotzbach C, Ha K, Kjaergaard S, Levin AV, Romeike BF, Kleefstra T, Bartsch O, Elsea SH, Jabs EW,MacDonald ME, Harris DJ, Qua

    Translocations disrupting PHF21A in the Potocki-Shaffer syndrome region are associated with intellectual disability and craniofacial anomalies. Am J Hum Genet 2012; 91(1): 56-72.


  • Talkowski ME, Rosenfeld JA, Chiang C, Blumenthal I, Pillalamarri V, Heilbut A, Ernst C, Hanscom C, Rossin E, Lindgren A, Pereira S, Ruderfer D, Kirby A, Zhang Y, Ripke S, Harris D, Lee JH, Ha K, Kim HG, Solomon BD, Gropman AL, Lucente D, Sims K, Ohsumi TK

    Sequencing chromosomal abnormalities reveals neurodevelopmental loci that confer risk across diagnostic boundaries. Cell 2012;149(3):525-537.