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List of works by Maximilian Muenke

2011 William Allan Award Introduction: John M. Opitz 1 ⬇️

scientific article published on March 9, 2012

22q11.2 deletion syndrome in diverse populations

scientific article published in April 2017

A broad range of ophthalmologic anomalies is part of the holoprosencephaly spectrum ⬇️

scientific article published on October 4, 2011

A common variant of the latrophilin 3 gene, LPHN3, confers susceptibility to ADHD and predicts effectiveness of stimulant medication

scientific article

A cooperative interaction between LPHN3 and 11q doubles the risk for ADHD.

scientific article

A novel SIX3 mutation segregates with holoprosencephaly in a large family.

scientific article

ADGRL3 (LPHN3) variants are associated with a refined phenotype of ADHD in the MTA study

scientific article published on 18 July 2016

ADHD latent class clusters: DSM-IV subtypes and comorbidity

scientific article

Abnormal sterol metabolism in holoprosencephaly

scientific article

Additional EFNB1 mutations in craniofrontonasal syndrome.

scientific article

Adverse birth outcome among mothers with low serum cholesterol

scientific article published on October 2007

An Ultraconserved Brain-Specific Enhancer Within ADGRL3 (LPHN3) Underpins Attention-Deficit/Hyperactivity Disorder Susceptibility

scientific article published on 14 July 2016

An electronic atlas of human malformation syndromes in diverse populations

scientific article published on 3 March 2016

Analysis of brain metabolism by proton magnetic resonance spectroscopy (1H-MRS) in attention-deficit/hyperactivity disorder suggests a generalized differential ontogenic pattern from controls

scientific article

Anomalies of the forebrain with radial limb defects: Garcia-Lurie-Steinfeld syndrome?

scientific article published in August 2004

Association between conformational mutations in neuroserpin and onset and severity of dementia

scientific article (publication date: 29 June 2002)

Attention-Deficit/Hyperactivity Disorder

Attention-Deficit/Hyperactivity Disorder and Comorbid Disruptive Behavior Disorders: Evidence of Pleiotropy and New Susceptibility Loci

article

Attention-deficit/hyperactivity disorder and comorbidities in 18 Paisa Colombian multigenerational families

scientific article published in December 2004

Attention-deficit/hyperactivity disorder in a population isolate: linkage to loci at 4q13.2, 5q33.3, 11q22, and 17p11.

scientific article

BOC is a modifier gene in holoprosencephaly

scientific article

Cbfbeta interacts with Runx2 and has a critical role in bone development

scientific journal article

Central nervous system embryogenesis and its failures

scientific article

Clinical Characteristics of Patients with Unicoronal Synostosis and Mutations of Fibroblast Growth Factor Receptor 3: A Preliminary Report ⬇️

scientific article published on December 1, 2001

Clinical and molecular analysis in Joubert syndrome ⬇️

scientific article published on October 3, 1997

Clinical spectrum of SIX3-associated mutations in holoprosencephaly: correlation between genotype, phenotype and function

scientific article

Contribution of LPHN3 to the genetic susceptibility to ADHD in adulthood: a replication study

scientific article published on 4 November 2010

Copy-number variations involving the IHH locus are associated with syndactyly and craniosynostosis

scientific article

Craniosynostosis and Noonan syndrome with KRAS mutations: Expanding the phenotype with a case report and review of the literature

scientific article published on 6 August 2015

Cumulative ligand activity of NODAL mutations and modifiers are linked to human heart defects and holoprosencephaly

scientific article

Current recommendations for the molecular evaluation of newly diagnosed holoprosencephaly patients

scientific article

Cyclopia (synophthalmia) in Smith-Lemli-Opitz syndrome: First reported case and consideration of mechanism

scientific article

De Novo Mutations in CHD4, an ATP-Dependent Chromatin Remodeler Gene, Cause an Intellectual Disability Syndrome with Distinctive Dysmorphisms

scientific journal article

Diagnosis and management of fragile X syndrome

scientific article

Dominant-negative kinase domain mutations in FGFR1 can explain the clinical severity of Hartsfield syndrome

scientific article published on 29 February 2016

Down syndrome in diverse populations

scientific article published in January 2017

Epilepsy in Muenke syndrome: FGFR3-related craniosynostosis

scientific article

Evidence for SHH as a candidate gene for encephalocele ⬇️

scientific article published on July 1, 2012

Executive Function and Adaptive Behavior in Muenke Syndrome

scientific article published on 28 May 2015

Fetal alcohol spectrum disorders.

scientific article

Fibrodysplasia ossificans progressiva, a heritable disorder of severe heterotopic ossification, maps to human chromosome 4q27-31.

scientific article

Genetic-environmental interaction in a unique case of Muenke syndrome with intracranial hypertension

scientific article

Genetics and genomic medicine around the world

scientific article published on 10 January 2014

Genomic screening of fibroblast growth-factor receptor 2 reveals a wide spectrum of mutations in patients with syndromic craniosynostosis

scientific article

Genomic structure, sequence, and mapping of humanFGF8 with no evidence for its role in craniosynostosis/limb defect syndromes

scientific article (publication date: 31 October 1997)

Genomics and Epigenomics of Congenital Heart Defects: Expert Review and Lessons Learned in Africa

research work

Genotypic and phenotypic analysis of 396 individuals with mutations inSonic Hedgehog ⬇️

scientific article published on July 1, 2012

Gestational exposure to lovastatin followed by cardiac malformation misclassified as holoprosencephaly

scientific article published in June 2005

Haploinsufficiency of ZNF462 is associated with craniofacial anomalies, corpus callosum dysgenesis, ptosis, and developmental delay

scientific article

Hearing loss in syndromic craniosynostoses: introduction and consideration of mechanisms

scientific article

High Intellectual Function in Individuals with Mutation-Positive Microform Holoprosencephaly ⬇️

scientific article published on July 26, 2012

Holoprosencephaly and agnathia spectrum: Presentation of two new patients and review of the literature

scientific article

Holoprosencephaly and craniosynostosis: A report of two siblings and review of the literature

scientific article

Holoprosencephaly and ectrodactyly: Report of three new patients and review of the literature

scientific article

Holoprosencephaly due to mutations in ZIC2, a homologue of Drosophila odd-paired ⬇️

scientific article published on October 1, 1998

Holoprosencephaly due to numeric chromosome abnormalities

scientific article

Holoprosencephaly flashcards: A summary for the clinician

scientific article published on February 2010

Holoprosencephaly in an 8.5-week triploidy gestation

scientific article published on July 2009

Holoprosencephaly: A paradigm for the complex genetics of brain development ⬇️

scientific article published on August 1, 1998

Holoprosencephaly: recommendations for diagnosis and management ⬇️

scientific article published on December 1, 2010

Human developmental disorders and the Sonic hedgehog pathway ⬇️

scientific article published on August 1, 1998

Impact of genetics on the diagnosis and clinical management of syndromic craniosynostoses

scientific article

In-depth investigations of adolescents and adults with holoprosencephaly identify unique characteristics

scientific article published on 22 June 2017

Increased prevalence of ADHD in Turner syndrome with no evidence of imprinting effects

scientific article

Individualized genomics and the future of translational medicine

scientific article published on May 2013

Infantile Cirrhosis, Growth Impairment, and Neurodevelopmental Anomalies Associated with Deficiency of PPP1R15B.

scientific article published on 15 September 2016

Introducing in AJMG Part A: Genetic Syndromes in Adults

scientific article published on 26 March 2019

Latent class subtyping of attention-deficit/hyperactivity disorder and comorbid conditions

scientific article published on July 2008

Limb body wall complex, amniotic band sequence, or new syndrome caused by mutation in IQ Motif containing K (IQCK)?

scientific article

Locus homogeneity between syndactyly type 1A and craniosynostosis Philadelphia type?

Loss of function in ROBO1 is associated with tetralogy of Fallot and septal defects

scientific article published on 7 June 2017

Loss-of-function mutations in growth differentiation factor-1 (GDF1) are associated with congenital heart defects in humans

scientific article

Loss-of-function mutations in the human GLI2 gene are associated with pituitary anomalies and holoprosencephaly-like features ⬇️

scientific article published on October 27, 2003

Mentors without Borders

scientific article

Meta-analysis of genome-wide linkage scans of attention deficit hyperactivity disorder

scientific article

Minimal evidence for a direct involvement of twisted gastrulation homolog 1 (TWSG1) gene in human holoprosencephaly☆ ⬇️

scientific article published on December 21, 2010

Missense substitutions in the GAS1 protein present in holoprosencephaly patients reduce the affinity for its ligand, SHH ⬇️

scientific article published on August 13, 2011

Muenke syndrome: An international multicenter natural history study

scientific article published on 6 January 2016

Multiple hits during early embryonic development: digenic diseases and holoprosencephaly

scientific article

Mutations in PATCHED-1, the receptor for SONIC HEDGEHOG, are associated with holoprosencephaly

scientific article (publication date: April 2002)

Mutations in PATCHED-1, the receptor for SONIC HEDGEHOG, are associated with 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

scientific article

Mutations in ZIC2 in human holoprosencephaly: description of a novel ZIC2 specific phenotype and comprehensive analysis of 157 individuals

scientific article published on 2 December 2009

Mutations in sphingolipid metabolism genes are associated with ADHD

scientific article published on 13 July 2020

Mutations in the human Sonic Hedgehog gene cause holoprosencephaly

scientific journal article

Neural Plasticity in Obesity and Psychiatric Disorders

scientific article published on 7 April 2016

New syndrome of congenital circumferential skin folds associated with multiple congenital anomalies

scientific article

Noonan syndrome.

scientific article

Novel heterozygous variants in KMT2D associated with holoprosencephaly

scientific article published on 15 July 2019

Opitz G/BBB syndrome in Xp22: mutations in the MID1 gene cluster in the carboxy-terminal domain

scientific article

Opitz G/BBB syndrome, a defect of midline development, is due to mutations in a new RING finger gene on Xp22

scientific article

PRDM15 loss of function links NOTCH and WNT/PCP signaling to patterning defects in holoprosencephaly

scientific article published on 10 January 2020

Palatal and Oral Manifestations of Muenke Syndrome (FGFR3-Related Craniosynostosis) ⬇️

scientific article published on May 1, 2012

Patients within the broad holoprosencephaly spectrum have distinct and subtle ophthalmologic anomalies: Response to Khan ⬇️

scientific article published on 07 February 2012

Phenotype delineation of ZNF462 related syndrome

scientific article published on 30 July 2019

Phenotype of the fibroblast growth factor receptor 2 Ser351Cys mutation: Pfeiffer syndrome type III ⬇️

scientific article published on July 24, 1998

Phenotype profile of a genetic mouse model for Muenke syndrome

scientific article

Phenotypic and genotypic characterisation of Noonan-like/multiple giant cell lesion syndrome

scientific article published on February 2005

Polymorphisms in the neural nicotinic acetylcholine receptor α4 subunit (CHRNA4) are associated with ADHD in a genetic isolate

scientific article published on 25 April 2009

Prevalence of Pro250Arg mutation of fibroblast growth factor receptor 3 in coronal craniosynostosis

scientific article

Rearrangement in the PITX2 and MIPOL1 genes in a patient with a t(4;14) chromosome ⬇️

scientific article published on 01 April 2003

Reduced NODAL signaling strength via mutation of several pathway members including FOXH1 is linked to human heart defects and holoprosencephaly

scientific article published on 5 June 2008

Retrospective assessment of childhood ADHD symptoms for diagnosis in adults: validity of a short 8-item version of the Wender-Utah Rating Scale

scientific article

Review: Genetics of attention deficit/hyperactivity disorder

scientific article

Revisiting the craniosynostosis-radial ray hypoplasia association: Baller-Gerold syndrome caused by mutations in the RECQL4 gene

scientific article published on 17 June 2005

SIX3 deletions and incomplete penetrance in families affected by holoprosencephaly.

scientific article published on 2 July 2017

Semilobar holoprosencephaly in a 46,XY female fetus ⬇️

scientific article published on 01 October 2001

Structure of the human Lanosterol synthase gene and its analysis as a candidate for holoprosencephaly (HPE1)

scientific article (publication date: November 1999)

Symptomatology of autism spectrum disorder in a population with neurofibromatosis type 1.

scientific article

Talocalcaneal coalition in Muenke syndrome: Report of a patient, review of the literature in FGFR‐related craniosynostoses, and consideration of mechanism ⬇️

scientific article published on February 1, 2013

The CHD4-related syndrome: a comprehensive investigation of the clinical spectrum, genotype-phenotype correlations, and molecular basis

scientific article published on 07 August 2019

The decision to continue: the experiences and needs of parents who receive a prenatal diagnosis of holoprosencephaly

scientific article published in November 2002

The full spectrum of holoprosencephaly-associated mutations within the ZIC2 gene in humans predicts loss-of-function as the predominant disease mechanism

scientific article published on April 2009

The genetics of addiction

scientific article

The interplay of genetic and environmental factors in craniofacial morphogenesis: holoprosencephaly and the role of cholesterol

scientific article

The molecular genetics of holoprosencephaly

scientific article

The mutational spectrum of holoprosencephaly-associated changes within the SHH gene in humans predicts loss-of-function through either key structural alterations of the ligand or its altered synthesis

scientific article published on October 2009

Towards a more representative morphology: clinical and ethical considerations for including diverse populations in diagnostic genetic atlases

scientific article

Truncating loss-of-function mutations of DISP1 contribute to holoprosencephaly-like microform features in humans

scientific article published on 31 January 2009

Whole-Exome Sequencing for Diagnosis of Turner Syndrome: Toward Next-Generation Sequencing and Newborn Screening

scientific article

Young adult outcomes in the follow-up of the multimodal treatment study of attention-deficit/hyperactivity disorder: symptom persistence, source discrepancy, and height suppression

scientific article

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