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Author Details

Maximilian Muenke
National Human Genome Research Institute, The National Institutes of Health
1990
312
70
PMIDPaper TitleJournal TitlePublished Year
36301051Hajdu-Cheney syndrome with atypical cardiovascular abnormalities.Am J Med Genet A2023
37313780Ambiguous genitalia, giant congenital melanocytic nevus and subpulmonic outlet ventricular septal defect in an African child with Neurofibromatosis 1.Am J Med Genet A2023
37333288The human Y and inactive X chromosomes similarly modulate autosomal gene expression.bioRxiv2023
36999554The 2019 medical genetics workforce: A focus on laboratory geneticists.Genet Med2023
36819663The human inactive X chromosome modulates expression of the active X chromosome.Cell Genom2023
33448881Exome Sequencing and Congenital Heart Disease in Sub-Saharan Africa.Circ Genom Precis Med2021
33522008Prenatal diagnosis of diencephalic-mesencephalic junction dysplasia: Fetal magnetic resonance imaging phenotypes, genetic diagnoses, and outcomes.Prenat Diagn2021
34698187Quantitative Craniofacial Analysis and Generation of Human Induced Pluripotent Stem Cells for Muenke Syndrome: A Case Report.J Dev Biol2021
33941882The 2019 US medical genetics workforce: a focus on clinical genetics.Genet Med2021
33111505Identifying environmental risk factors and gene-environment interactions in holoprosencephaly.Birth Defects Res2021
30922925Identification of a novel PCNT founder pathogenic variant in the Israeli Druze population.Eur J Med Genet2020
31873296A call for global action for rare diseases in Africa.Nat Genet2020
31844176Correction: The CHD4-related syndrome: a comprehensive investigation of the clinical spectrum, genotype-phenotype correlations, and molecular basis.Genet Med2020
32052942Congenital heart disease in school children in Lagos, Nigeria: Prevalence and the diagnostic gap.Am J Med Genet C Semin Med Genet2020
32022405Comorbidity of congenital heart defects and holoprosencephaly is likely genetically driven and gene-specific.Am J Med Genet C Semin Med Genet2020
31923704Biallelic variants in KYNU cause a multisystemic syndrome with hand hyperphalangism.Bone2020
31950080PRDM15 loss of function links NOTCH and WNT/PCP signaling to patterning defects in holoprosencephaly.Sci Adv2020
31854143Turner syndrome in diverse populations.Am J Med Genet A2020
31883643Loss-of-Function Variants in PPP1R12A: From Isolated Sex Reversal to Holoprosencephaly Spectrum and Urogenital Malformations.Am J Hum Genet2020
32939873Functional analysis of Sonic Hedgehog variants associated with holoprosencephaly in humans using a CRISPR/Cas9 zebrafish model.Hum Mutat2020
32601182Sex differences in neutrophil biology modulate response to type I interferons and immunometabolism.Proc Natl Acad Sci U S A2020
32906187Rare hypomorphic human variation in the heptahelical domain of SMO contributes to holoprosencephaly phenotypes.Hum Mutat2020
32985117Rubinstein-Taybi syndrome in diverse populations.Am J Med Genet A2020
32553196De Novo Variants in CNOT1, a Central Component of the CCR4-NOT Complex Involved in Gene Expression and RNA and Protein Stability, Cause Neurodevelopmental Delay.Am J Hum Genet2020
32513280Prenatal exposure to pesticides and risk for holoprosencephaly: a case-control study.Environ Health2020
32426931Love in the time of COVID-19.Am J Med Genet A2020
31388190The CHD4-related syndrome: a comprehensive investigation of the clinical spectrum, genotype-phenotype correlations, and molecular basis.Genet Med2020
30696812ADGRL3 (LPHN3) variants predict substance use disorder.Transl Psychiatry2019
31693576Diversity and dysmorphology.Curr Opin Pediatr2019
30197418Low-level parental mosaicism affects the recurrence risk of holoprosencephaly.Genet Med2019
31626395Circle of Willis anomalies in Turner syndrome: Absent A1 segment of the anterior cerebral artery.Birth Defects Res2019
31282990Novel heterozygous variants in KMT2D associated with holoprosencephaly.Clin Genet2019
31334757Cohesin complex-associated holoprosencephaly.Brain2019
31361404Phenotype delineation of ZNF462 related syndrome.Am J Med Genet A2019
31006510A CCR4-NOT Transcription Complex, Subunit 1, CNOT1, Variant Associated with Holoprosencephaly.Am J Hum Genet2019
30912611Introducing in AJMG Part A: Genetic Syndromes in Adults.Am J Med Genet A2019
30938017Echocardiographic screening of 4107 Nigerian school children for rheumatic heart disease.Trop Med Int Health2019
31140686Tuberous sclerosis in a patient from Nigeria.Am J Med Genet A2019
31140673Onward and upward.Am J Med Genet A2019
30786327An International Summit in Human Genetics and Genomics: Empowering clinical practice and research in developing countries.Mol Genet Genomic Med2019
30614194Cornelia de Lange syndrome in diverse populations.Am J Med Genet A2019
28640243In-depth investigations of adolescents and adults with holoprosencephaly identify unique characteristics.Genet Med2018
30160834Introducing in AJMG Part A: Case reports in diverse populations.Am J Med Genet A2018
29992659Common genetic causes of holoprosencephaly are limited to a small set of evolutionarily conserved driver genes of midline development coordinated by TGF-β, hedgehog, and FGF signaling.Hum Mutat2018
30182446Holoprosencephaly from conception to adulthood.Am J Med Genet C Semin Med Genet2018
30182444Holoprosencephaly flashcards: An updated summary for the clinician.Am J Med Genet C Semin Med Genet2018
30182442Cytogenetics and holoprosencephaly: A chromosomal microarray study of 222 individuals with holoprosencephaly.Am J Med Genet C Semin Med Genet2018
30182443Introduction.Am J Med Genet C Semin Med Genet2018
30182441Challenging issues arising in counseling families experiencing holoprosencephaly.Am J Med Genet C Semin Med Genet2018
30230273Clinical epidemiology of congenital heart disease in Nigerian children, 2012-2017.Birth Defects Res2018
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University of Tennessee Health Science Center
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