Chief, Medical Genetics Branch, Division of Intramural Research, National Human Genome Research Institute, NIH
Medical Genetics
Dr. Maximilian Muenke, MD
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Maximilian Muenke works in the field of Medical Genetics. Maximilian Muenke is also a published doctor. He has 97 publication published. The most recent publication is: Craniosynostosis and Noonan syndrome with KRAS mutations: Expanding the phenotype with a case report and review of the literature.
Publications
- Craniosynostosis and Noonan syndrome with KRAS mutations: Expanding the phenotype with a case report and review of the literature.
- Expanding the phenotypic expression of Sonic Hedgehog mutations beyond holoprosencephaly.
- Mutations in SPECC1L, encoding sperm antigen with calponin homology and coiled-coil domains 1-like, are found in some cases of autosomal dominant Opitz G/BBB syndrome.
- Hearing loss in syndromic craniosynostoses: Otologic manifestations and clinical findings.
- Pathogenic mutations in GLI2 cause a specific phenotype that is distinct from holoprosencephaly.
- Noonan syndrome.
- Symptomatology of autism spectrum disorder in a population with neurofibromatosis type 1.
- When to suspect a genetic syndrome.
- Missense substitutions in the GAS1 protein present in holoprosencephaly patients reduce the affinity for its ligand, SHH.
- New Syndrome of Congenital Circumferential Skin Folds Associated with Multiple Congenital Anomalies.
- Genetic-environmental interaction in a unique case of Muenke syndrome with intracranial hypertension.
- A broad range of ophthalmologic anomalies is part of the holoprosencephaly spectrum.
- Potential cognitive endophenotypes in multigenerational families: segregating ADHD from a genetic isolate.
- Mutations in CDON, encoding a hedgehog receptor, result in holoprosencephaly and defective interactions with other hedgehog receptors.
- Holoprosencephaly: a guide to diagnosis and clinical management.
- Holoprosencephaly in a family segregating novel variants in ZIC2 and GLI2.
- Minimal evidence for a direct involvement of twisted gastrulation homolog 1 (TWSG1) gene in human holoprosencephaly.
- Copy-number variations involving the IHH locus are associated with syndactyly and craniosynostosis.
- Screening of human LPHN3 for variants with a potential impact on ADHD susceptibility.
- From the black widow spider to human behavior: Latrophilins, a relatively unknown class of G protein-coupled receptors, are implicated in psychiatric disorders.
- Clinical utility gene card for: Holoprosencephaly.
- Holoprosencephaly: recommendations for diagnosis and management.
- Toward a better understanding of ADHD: LPHN3 gene variants and the susceptibility to develop ADHD.
- Mutations in ZIC2 in human holoprosencephaly: description of a novel ZIC2 specific phenotype and comprehensive analysis of 157 individuals.
- Deletion of 8q24 in an adult with mild dysmorphic features, developmental delay, and ketotic hypoglycemia.
- Heterozygous mutations in SIX3 and SHH are associated with schizencephaly and further expand the clinical spectrum of holoprosencephaly.
- Holoprosencephaly and craniosynostosis: A report of two siblings and review of the literature.
- Holoprosencephaly and agnathia spectrum: Presentation of two new patients and review of the literature.
- Cyclopia (synophthalmia) in Smith-Lemli-Opitz syndrome: First reported case and consideration of mechanism.
- Holoprosencephaly due to numeric chromosome abnormalities.
- Holoprosencephaly and ectrodactyly: Report of three new patients and review of the literature.
- Analysis of genotype-phenotype correlations in human holoprosencephaly.
- Abnormal sterol metabolism in holoprosencephaly.
- Current recommendations for the molecular evaluation of newly diagnosed holoprosencephaly patients.
- The molecular genetics of holoprosencephaly.
- Holoprosencephaly flashcards: A summary for the clinician.
- Introduction to the American Journal of Medical Genetics Part C on holoprosencephaly.
- ADHD latent class clusters: DSM-IV subtypes and comorbidity.
- Compound heterozygosity for mutations in PAX6 in a patient with complex brain anomaly, neonatal diabetes mellitus, and microophthalmia.
- The mutational spectrum of holoprosencephaly-associated changes within the SHH gene in humans predicts loss-of-function through either key structural alterations of th...
- Cumulative ligand activity of NODAL mutations and modifiers are linked to human heart defects and holoprosencephaly.
- Maternally inherited heterozygous sequence change in the sonic hedgehog gene in a male patient with bilateral closed-lip schizencephaly and partial absence of the corp...
- Holoprosencephaly in an 8.5-week triploidy gestation.
- Polymorphisms in the neural nicotinic acetylcholine receptor α4 subunit (CHRNA4) are associated with ADHD in a genetic isolate.
- A novel SIX3 mutation segregates with holoprosencephaly in a large family.
- Truncating loss-of-function mutations of DISP1 contribute to holoprosencephaly-like microform features in humans.
- The full spectrum of holoprosencephaly-associated mutations within the ZIC2 gene in humans predicts loss-of-function as the predominant disease mechanism.
- Mutations in the human SIX3 gene in holoprosencephaly are loss of function.
- Meta-analysis of genome-wide linkage scans of attention deficit hyperactivity disorder.
- Regulation of a remote Shh forebrain enhancer by the Six3 homeoprotein.
- Review: Genetics of attention deficit/hyperactivity disorder.
- Agenesis and dysgenesis of the corpus callosum: clinical, genetic and neuroimaging findings in a series of 41 patients.
- Locus homogeneity between syndactyly type 1A and craniosynostosis Philadelphia type?
- Additional EFNB1 mutations in craniofrontonasal syndrome.
- Reduced NODAL signaling strength via mutation of several pathway members including FOXH1 is linked to human heart defects and holoprosencephaly.
- Latent class subtyping of attention-deficit/hyperactivity disorder and comorbid conditions.
- Holoprosencephaly-Polydactyly syndrome: in search of an etiology.
- Muenke syndrome (FGFR3-related craniosynostosis): expansion of the phenotype and review of the literature.
- Adverse birth outcome among mothers with low serum cholesterol.
- Attention-deficit/hyperactivity disorder and comorbid disruptive behavior disorders: evidence of pleiotropy and new susceptibility loci.
- Functional analysis of mutations in TGIF associated with holoprosencephaly.
- SIX3 mutations with holoprosencephaly.
- Increased prevalence of ADHD in Turner syndrome with no evidence of imprinting effects.
- A functional screen for sonic hedgehog regulatory elements across a 1 Mb interval identifies long-range ventral forebrain enhancers.
- Klinefelter syndrome.
- Prader-Willi syndrome.
- A previously unidentified amino-terminal domain regulates transcriptional activity of wild-type and disease-associated human GLI2.
- Fetal alcohol spectrum disorders.
- Diagnosis and management of fragile X syndrome.
- Gestational exposure to lovastatin followed by cardiac malformation misclassified as holoprosencephaly.
- Mechanistic and epidemiologic considerations in the evaluation of adverse birth outcomes following gestational exposure to statins.
- Attention-deficit/hyperactivity disorder and comorbidities in 18 Paisa Colombian multigenerational families.
- Attention-deficit/hyperactivity disorder in a population isolate: linkage to loci at 4q13.2, 5q33.3, 11q22, and 17p11.
- FISH diagnosis of the common 57-kb deletion in CTNS causing cystinosis.
- Anomalies of the forebrain with radial limb defects: Garcia-Lurie-Steinfeld syndrome?
- Central nervous system and limb anomalies in case reports of first-trimester statin exposure.
- Attention deficit/hyperactivity disorder (ADHD): complex phenotype, simple genotype?
- Loss-of-function mutations in the human GLI2 gene are associated with pituitary anomalies and holoprosencephaly-like features.
- Non-syndromic hemihyperplasia in a male and his mother.
- SONIC HEDGEHOG mutations causing human holoprosencephaly impair neural patterning activity.
- Rearrangement in the PITX2 and MIPOL1 genes in a patient with a t(4;14) chromosome.
- How a Hedgehog might see holoprosencephaly.
- The interplay of genetic and environmental factors in craniofacial morphogenesis: holoprosencephaly and the role of cholesterol.
- Novel mutation in sonic hedgehog in non-syndromic colobomatous microphthalmia.
- Cbfbeta interacts with Runx2 and has a critical role in bone development.
- Multiple hits during early embryonic development: digenic diseases and holoprosencephaly.
- The decision to continue: the experiences and needs of parents who receive a prenatal diagnosis of holoprosencephaly.
- The pit, the cleft and the web.
- Central nervous system embryogenesis and its failures.
- Association between conformational mutations in neuroserpin and onset and severity of dementia.
- A loss-of-function mutation in the CFC domain of TDGF1 is associated with human forebrain defects.
- Mutations in PATCHED-1, the receptor for SONIC HEDGEHOG, are associated with holoprosencephaly.
- CFC1 mutations in patients with transposition of the great arteries and double-outlet right ventricle.
- Mutational analysis of the Sonic Hedgehog gene in 220 newborns with oral clefts in a South American (ECLAMC) population.
- Genomic screening of fibroblast growth-factor receptor 2 reveals a wide spectrum of mutations in patients with syndromic craniosynostosis.
- Molecular genetics of holoprosencephaly.
Doctors Specialties
- Clinical Cytogenetics
- Clinical Genetics
- Clinical Molecular Genetics
- Medical Genetics
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