Joohyun Park

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Eruptive Calcified Nodules as a Potential Mechanism of Acute Coronary Thrombosis and Sudden Death.

R. Virmani, F. Otsuka, A. Finn, 2021, Journal of the American College of Cardiology.

Genetics of Unexplained Sudden Cardiac Death in Adult Caucasian and African American Individuals Living in the State of Maryland

R. Virmani, A. Finn, F. Kolodgie, 2019 .

A prospective study to assess the efficacy and safety of oral propranolol as first-line treatment for infantile superficial hemangioma

Meerim Park, Joohyun Park, Yeong Ju Yun, 2015, Korean journal of pediatrics.

Gain and loss of TASK3 channel function and its regulation by novel variation cause KCNK9 imprinting syndrome

Nikita R. Dsouza, Magalie S Leduc, J. Graham, 2022, Genome Medicine.

E. Ringelstein, T. Strom, H. Lerche, 2019, Annals of clinical and translational neurology.

Novel HIVEP2 Variants in Patients with Intellectual Disability

M. Sturm, A. Dufke, T. Haack, 2019, Molecular Syndromology.

Adult‐Onset Neurodegeneration in Nucleotide Excision Repair Disorders (NERDND): Time to Move Beyond the Skin

T. Klockgether, M. Sturm, M. Synofzik, 2022, Movement disorders : official journal of the Movement Disorder Society.

Association of longitudinal fractional exhaled nitric oxide measurements with asthma control in atopic children.

Joohyun Park, Sohyoung Yang, Youn Kyung Lee, 2015, Respiratory medicine.

De novo variants in SLC12A6 cause sporadic early-onset progressive sensorimotor neuropathy

M. Sturm, T. Haack, U. Grasshoff, 2019, Journal of Medical Genetics.

Coronary pathology of inherited generalized arterial calcification of infancy: a case report.

R. Virmani, F. Kolodgie, L. Lorini, 2018, Cardiovascular pathology : the official journal of the Society for Cardiovascular Pathology.

Long-term benefit of pallidal deep brain stimulation in a patient with VPS16-associated dystonia

V. Visser-Vandewalle, M. Barbe, T. Haack, 2022, Neurological Research and Practice.

1672 EFFICACY AND SAFETY OF ORAL MIRODENAFIL IN THE TREATMENT OF ERECTILE DYSFUNCTION IN DIABETIC MEN IN KOREA: A MULTI-CENTER, RANDOMIZED, DOUBLE-BLIND, PLACEBO-CONTROLLED CLINICAL TRIAL

H. Park, N. Park, J. Hyun, 2011 .

Bi‐Allelic COQ4 Variants Cause Adult‐Onset Ataxia‐Spasticity Spectrum Disease

D. Timmann, N. Brüggemann, M. Synofzik, 2022, Movement disorders : official journal of the Movement Disorder Society.

Stroke Volume Variation and Pulse Pressure Variation Are Not Useful for Predicting Fluid Responsiveness in Thoracic Surgery

H. Ahn, J. Kim, Mikyung Yang, 2017, Anesthesia and analgesia.

Synthesis of potent chemical inhibitors of dynamin GTPase.

Yong‐Chul Kim, Sunghoe Chang, K. Jung, 2010, Bioorganic & medicinal chemistry letters.

Mutations at a split codon in the GTPase-encoding domain of OPA1 cause dominant optic atrophy through different molecular mechanisms

V. Marino, D. Dell’Orco, T. Haack, 2021, Human molecular genetics.

Phenotypic characterization of seven individuals with Marbach–Schaaf neurodevelopmental syndrome

A. Afenjar, C. Schaaf, U. Grasshoff, 2022, American journal of medical genetics. Part A.

GATA1-positive Acute Megakaryoblastic Leukemia in a 6.9-year-old Patient with Down Syndrome: What is the Prognosis?

Hee-Jin Kim, H. Im, Meerim Park, 2013 .

C. Brittain, J. Ascher, K. Muir, 2010, Journal of clinical pharmacology.

Bupropion Has No Effect on Intraocular Pressure or Other Ophthalmologic Parameters After Single or Repeat Doses in Healthy Volunteers

N. Levy, K. Muir, L. Iavarone, 2009, Journal of clinical pharmacology.

Delineating MT-ATP6-associated disease

Marni J. Falk, R. Ganetzky, H. Prokisch, 2020, Neurology. Genetics.

Heterozygous UCHL1 loss-of-function variants cause a neurodegenerative disorder with spasticity, ataxia, neuropathy, and optic atrophy.

A. Need, D. Smedley, C. Tregidgo, 2022, Genetics in medicine : official journal of the American College of Medical Genetics.

Transcript-Specific Loss-of-Function Variants in VPS16 Are Enriched in Patients With Dystonia

M. Sturm, S. Paus, S. Ossowski, 2021, Neurology: Genetics.

From isolated neuropathy to early onset neurodegeneration

R. Ganetzky, H. Prokisch, L. Schöls, 2022 .

Vascular responses to coronary calcification following implantation of newer-generation drug-eluting stents in humans: impact on healing.

R. Virmani, A. Finn, F. Kolodgie, 2019, European heart journal.

Successful treatment with azacitidine in VEXAS syndrome with prominent myofasciitis.

K. Götze, B. Hemmer, T. Haack, 2021, Rheumatology.

Correspondence on “Clinical, neuropathological, and genetic characterization of STUB1 variants in cerebellar ataxias: a frequent cause of predominant cognitive impairment” by Roux et al.

L. Schöls, M. Sturm, O. Riess, 2021, Genetics in medicine : official journal of the American College of Medical Genetics.

Clinical and molecular delineation of PUS3‐associated neurodevelopmental disorders

Z. Tümer, A. Afenjar, R. Møller, 2021, Clinical genetics.

HNRNPC haploinsufficiency affects alternative splicing of intellectual disability-associated genes and causes a neurodevelopmental disorder.

William E. Byrd, Gabor T. Marth, Marni J. Falk, 2023, American journal of human genetics.

GFPT1-Associated Congenital Myasthenic Syndrome Mimicking a Glycogen Storage Disease - Diagnostic Pitfalls in Myopathology Solved by Next-Generation-Sequencing.

T. Haack, G. Stoltenburg‐Didinger, S. Zierz, 2022, Journal of neuromuscular diseases.