Maximilian Muenke
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Philosophy Biology
Maximilian Muenke's Degrees
- Doctorate Medicine Stanford University
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(Suggest an Edit or Addition)Maximilian Muenke's Published Works
Number of citations in a given year to any of this author's works
Total number of citations to an author for the works they published in a given year. This highlights publication of the most important work(s) by the author
Published Works
- Mutations in the human Sonic Hedgehog gene cause holoprosencephaly (1996) (1136)
- Identification of Sonic hedgehog as a candidate gene responsible for holoprosencephaly (1996) (656)
- A common mutation in the fibroblast growth factor receptor 1 gene in Pfeiffer syndrome (1994) (591)
- Holoprosencephaly due to mutations in ZIC2, a homologue of Drosophila odd-paired (1998) (447)
- Mutations in the homeodomain of the human SIX3 gene cause holoprosencephaly (1999) (423)
- Mutations in TGIF cause holoprosencephaly and link NODAL signalling to human neural axis determination (2000) (379)
- A unique point mutation in the fibroblast growth factor receptor 3 gene (FGFR3) defines a new craniosynostosis syndrome. (1997) (362)
- Overexpression of an osteogenic morphogen in fibrodysplasia ossificans progressiva. (1996) (356)
- Opitz G/BBB syndrome, a defect of midline development, is due to mutations in a new RING finger gene on Xp22 (1997) (353)
- The mutational spectrum of the sonic hedgehog gene in holoprosencephaly: SHH mutations cause a significant proportion of autosomal dominant holoprosencephaly. (1999) (346)
- Loss-of-function mutations in the EGF-CFC gene CFC1 are associated with human left-right laterality defects (2000) (344)
- Loss-of-function mutations in the human GLI2 gene are associated with pituitary anomalies and holoprosencephaly-like features (2003) (342)
- Familial dementia caused by polymerization of mutant neuroserpin (1999) (323)
- Identical mutations in three different fibroblast growth factor receptor genes in autosomal dominant craniosynostosis syndromes (1996) (318)
- Multiple hits during early embryonic development: digenic diseases and holoprosencephaly. (2002) (301)
- Fibroblast-growth-factor receptor mutations in human skeletal disorders. (1995) (294)
- A common variant of the latrophilin 3 gene, LPHN3, confers susceptibility to ADHD and predicts effectiveness of stimulant medication. (2010) (254)
- Genetics of population isolates (2002) (254)
- Genetics of ventral forebrain development and holoprosencephaly. (2000) (254)
- Genomic screening of fibroblast growth-factor receptor 2 reveals a wide spectrum of mutations in patients with syndromic craniosynostosis. (2002) (244)
- A functional screen for sonic hedgehog regulatory elements across a 1 Mb interval identifies long-range ventral forebrain enhancers (2006) (234)
- Cbfβ interacts with Runx2 and has a critical role in bone development (2002) (221)
- Holoprosencephaly in RSH/Smith-Lemli-Opitz syndrome: does abnormal cholesterol metabolism affect the function of Sonic Hedgehog? (1996) (219)
- Central nervous system and limb anomalies in case reports of first-trimester statin exposure. (2004) (213)
- Attention-deficit/hyperactivity disorder in a population isolate: linkage to loci at 4q13.2, 5q33.3, 11q22, and 17p11. (2004) (207)
- Mutations in holoprosencephaly (2000) (202)
- Revisiting the craniosynostosis-radial ray hypoplasia association: Baller-Gerold syndrome caused by mutations in the RECQL4 gene (2005) (200)
- Mechanistic and epidemiologic considerations in the evaluation of adverse birth outcomes following gestational exposure to statins (2004) (194)
- Young adult outcomes in the follow‐up of the multimodal treatment study of attention‐deficit/hyperactivity disorder: symptom persistence, source discrepancy, and height suppression (2017) (191)
- Regulation of a remote Shh forebrain enhancer by the Six3 homeoprotein (2008) (190)
- CFC1 mutations in patients with transposition of the great arteries and double-outlet right ventricle. (2002) (188)
- Holoprosencephaly due to mutations in ZIC2: alanine tract expansion mutations may be caused by parental somatic recombination. (2001) (179)
- A previously unidentified amino-terminal domain regulates transcriptional activity of wild-type and disease-associated human GLI2. (2005) (171)
- Adverse Birth Outcome Among Mothers With Low Serum Cholesterol (2007) (171)
- Mutations in the C-terminal domain of Sonic Hedgehog cause holoprosencephaly. (1997) (166)
- Elements of morphology: Standard terminology for the head and face (2009) (163)
- Human developmental disorders and the Sonic hedgehog pathway. (1998) (162)
- CNTNAP2 gene dosage variation is associated with schizophrenia and epilepsy (2010) (159)
- Agenesis and dysgenesis of the corpus callosum: Clinical, genetic and neuroimaging findings in a series of 41 patients (2008) (159)
- Localization of DNA sequences required for human centromere function through an analysis of rearranged Y chromosomes (1993) (156)
- Novel mutation in sonic hedgehog in non‐syndromic colobomatous microphthalmia (2003) (155)
- Reduced NODAL signaling strength via mutation of several pathway members including FOXH1 is linked to human heart defects and holoprosencephaly. (2008) (152)
- SHH mutation is associated with solitary median maxillary central incisor: a study of 13 patients and review of the literature. (2001) (148)
- Association between conformational mutations in neuroserpin and onset and severity of dementia (2002) (144)
- Analysis of genotype–phenotype correlations in human holoprosencephaly (2010) (144)
- Prevalence of Pro250Arg mutation of fibroblast growth factor receptor 3 in coronal craniosynostosis (1997) (144)
- Molecular mechanisms of holoprosencephaly. (1999) (144)
- The molecular genetics of holoprosencephaly (2010) (139)
- Holoprosencephaly: from Homer to Hedgehog (1998) (137)
- The human osmoregulatory Na+/myo-inositol cotransporter gene (SLC5A3): molecular cloning and localization to chromosome 21. (1995) (135)
- Molecular genetics of holoprosencephaly. (2000) (131)
- Mutations in PATCHED-1, the receptor for SONIC HEDGEHOG, are associated with holoprosencephaly (2002) (131)
- Loss-of-function mutations in growth differentiation factor-1 (GDF1) are associated with congenital heart defects in humans. (2007) (127)
- The use of racial, ethnic, and ancestral categories in human genetics research. (2005) (123)
- Holoprosencephaly: A paradigm for the complex genetics of brain development (1998) (123)
- Symptomatology of autism spectrum disorder in a population with neurofibromatosis type 1 (2013) (120)
- Mutations in PATCHED-1, the receptor for SONIC HEDGEHOG, are associated with holoprosencephaly (2002) (120)
- Mutations in CDON, encoding a hedgehog receptor, result in holoprosencephaly and defective interactions with other hedgehog receptors. (2011) (118)
- Genotype-phenotype correlation for nucleotide substitutions in the IgII-IgIII linker of FGFR2. (1997) (117)
- Opitz syndrome is genetically heterogeneous, with one locus on Xp22, and a second locus on 22q11.2 (1995) (117)
- Linkage of a human brain malformation, familial holoprosencephaly, to chromosome 7 and evidence for genetic heterogeneity. (1994) (116)
- Increased prevalence of ADHD in Turner syndrome with no evidence of imprinting effects. (2006) (114)
- Genetic transmission of fibrodysplasia ossificans progressiva. Report of a family. (1993) (113)
- Cytogenetic rearrangements involving the loss of the Sonic Hedgehog gene at 7q36 cause holoprosencephaly (1997) (110)
- Contribution of LPHN3 to the genetic susceptibility to ADHD in adulthood: a replication study (2011) (109)
- Molecular analysis of the 18q- syndrome--and correlation with phenotype. (1993) (106)
- Physical mapping of the holoprosencephaly critical region in 18p11.3. (1995) (105)
- Physical mapping of the holoprosencephaly critical region in 21q22.3, exclusion of SIM2 as a candidate gene for holoprosencephaly, and mapping of SIM2 to a region of chromosome 21 important for Down syndrome. (1995) (104)
- Muenke syndrome (FGFR3‐related craniosynostosis): Expansion of the phenotype and review of the literature (2007) (102)
- A loss-of-function mutation in the CFC domain of TDGF1 is associated with human forebrain defects (2002) (98)
- Craniosynostosis syndromes: from genes to premature fusion of skull bones. (1999) (96)
- Clinical spectrum of SIX3-associated mutations in holoprosencephaly: correlation between genotype, phenotype and function (2009) (96)
- De Novo Mutations in CHD4, an ATP-Dependent Chromatin Remodeler Gene, Cause an Intellectual Disability Syndrome with Distinctive Dysmorphisms. (2016) (95)
- 22q11.2 deletion syndrome in diverse populations (2017) (91)
- Copy-number variations involving the IHH locus are associated with syndactyly and craniosynostosis. (2011) (90)
- Compound heterozygosity for mutations in PAX6 in a patient with complex brain anomaly, neonatal diabetes mellitus, and microophthalmia (2009) (89)
- 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 (2009) (88)
- Fibrodysplasia ossificans progressiva, a heritable disorder of severe heterotopic ossification, maps to human chromosome 4q27-31. (2000) (88)
- Review: Genetics of attention deficit/hyperactivity disorder. (2008) (87)
- Opitz G/BBB syndrome: clinical comparisons of families linked to Xp22 and 22q, and a review of the literature. (1996) (86)
- Physical mapping of the holoprosencephaly critical region on chromosome 7q36 (1993) (83)
- Human enteric defensin genes: chromosomal map position and a model for possible evolutionary relationships. (1996) (82)
- Mutations in ZIC2 in human holoprosencephaly: description of a Novel ZIC2 specific phenotype and comprehensive analysis of 157 individuals (2009) (81)
- Identification of a genetic cause for isolated unilateral coronal synostosis: a unique mutation in the fibroblast growth factor receptor 3. (1998) (80)
- The decision to continue: the experiences and needs of parents who receive a prenatal diagnosis of holoprosencephaly. (2002) (80)
- Latent class subtyping of attention-deficit/hyperactivity disorder and comorbid conditions. (2008) (77)
- Phenotype of the fibroblast growth factor receptor 2 Ser351Cys mutation: Pfeiffer syndrome type III. (1998) (75)
- Attention deficit/hyperactivity disorder (ADHD): Complex phenotype, simple genotype? (2004) (75)
- Attention-Deficit/Hyperactivity Disorder and Comorbid Disruptive Behavior Disorders: Evidence of Pleiotropy and New Susceptibility Loci (2007) (75)
- Impact of genetics on the diagnosis and clinical management of syndromic craniosynostoses (2012) (72)
- Genetic approaches to understanding brain development: holoprosencephaly as a model. (2000) (72)
- Extreme variability of expression of a Sonic Hedgehog mutation: attention difficulties and holoprosencephaly (2002) (71)
- Down syndrome in diverse populations (2017) (71)
- Phenotypic and genotypic characterisation of Noonan-like/multiple giant cell lesion syndrome (2005) (70)
- Cumulative ligand activity of NODAL mutations and modifiers are linked to human heart defects and holoprosencephaly. (2009) (69)
- The interplay of genetic and environmental factors in craniofacial morphogenesis: holoprosencephaly and the role of cholesterol (2003) (69)
- Holoprosencephaly as a genetic model for normal craniofacial development (1994) (69)
- Opitz G/BBB syndrome in Xp22: mutations in the MID1 gene cluster in the carboxy-terminal domain. (1998) (69)
- Midline and laterality defects: Left and right meet in the middle † (2001) (68)
- Pedigree disequilibrium test (PDT) replicates association and linkage between DRD4 and ADHD in multigenerational and extended pedigrees from a genetic isolate (2004) (66)
- Genotypic and phenotypic analysis of 396 individuals with mutations in Sonic Hedgehog (2012) (66)
- Truncating loss-of-function mutations of DISP1 contribute to holoprosencephaly-like microform features in humans (2009) (65)
- Analysis of the mutational spectrum of the FGFR2 gene in Pfeiffer syndrome (1999) (65)
- Clinical and molecular analysis in Joubert syndrome. (1997) (64)
- Functional analysis of mutations in TGIF associated with holoprosencephaly. (2007) (64)
- Sex differences in neutrophil biology modulate response to type I interferons and immunometabolism (2020) (62)
- How a Hedgehog might see holoprosencephaly. (2003) (62)
- Noonan syndrome in diverse populations (2017) (61)
- The full spectrum of holoprosencephaly‐associated mutations within the ZIC2 gene in humans predicts loss‐of‐function as the predominant disease mechanism (2009) (60)
- Attention-deficit/hyperactivity disorder and comorbidities in 18 Paisa Colombian multigenerational families. (2004) (59)
- Molecular characterization of breakpoints in patients with holoprosencephaly and definition of the HPE2 critical region 2p21. (1996) (59)
- Current recommendations for the molecular evaluation of newly diagnosed holoprosencephaly patients (2010) (58)
- Holoprosencephaly due to numeric chromosome abnormalities (2010) (57)
- Missense substitutions in the GAS1 protein present in holoprosencephaly patients reduce the affinity for its ligand, SHH (2012) (56)
- Screening of human LPHN3 for variants with a potential impact on ADHD susceptibility (2011) (56)
- Mutations in the human SIX3 gene in holoprosencephaly are loss of function. (2008) (55)
- A cooperative interaction between LPHN3 and 11q doubles the risk for ADHD (2011) (55)
- Fetal alcohol spectrum disorders. (2005) (53)
- Pathogenic mutations in GLI2 cause a specific phenotype that is distinct from holoprosencephaly (2014) (52)
- Heterozygous mutations in SIX3 and SHH are associated with schizencephaly and further expand the clinical spectrum of holoprosencephaly (2010) (52)
- The topographic organization of repetitive DNA in the human nucleolus. (1993) (52)
- Williams–Beuren syndrome in diverse populations (2018) (50)
- Holoprosencephaly: A guide to diagnosis and clinical management (2011) (50)
- A common genetic network underlies substance use disorders and disruptive or externalizing disorders (2012) (49)
- ADHD latent class clusters: DSM-IV subtypes and comorbidity (2009) (49)
- Utilizing prospective sequence analysis of SHH, ZIC2, SIX3 and TGIF in holoprosencephaly probands to describe the parameters limiting the observed frequency of mutant gene×gene interactions. (2012) (48)
- SONIC HEDGEHOG mutations causing human holoprosencephaly impair neural patterning activity (2003) (48)
- Identification of novel mutations in SHH and ZIC2 in a South American (ECLAMC) population with holoprosencephaly (2001) (47)
- Holoprosencephaly: recommendations for diagnosis and management (2010) (47)
- An Ultraconserved Brain-Specific Enhancer Within ADGRL3 (LPHN3) Underpins Attention-Deficit/Hyperactivity Disorder Susceptibility (2016) (45)
- A Hypomorphic Allele in the FGF8 Gene Contributes to Holoprosencephaly and Is Allelic to Gonadotropin-Releasing Hormone Deficiency in Humans (2010) (45)
- Multicolour FISH and quantitative PCR can detect submicroscopic deletions in holoprosencephaly patients with a normal karyotype (2005) (44)
- On lumping and splitting: a fetus with clinical findings of the oral-facial-digital syndrome type VI, the hydrolethalus syndrome, and the Pallister-Hall syndrome. (1991) (44)
- A gene for cleidocranial dysplasia maps to the short arm of chromosome 6. (1995) (44)
- Syndromes associated with holoprosencephaly (2018) (43)
- Cyclopia (synophthalmia) in Smith–Lemli–Opitz syndrome: First reported case and consideration of mechanism (2010) (42)
- The genetics of addiction (2012) (41)
- Dominant-negative kinase domain mutations in FGFR1 can explain the clinical severity of Hartsfield syndrome. (2016) (40)
- Holoprosencephaly: molecular study of a California population. (2000) (40)
- A novel SIX3 mutation segregates with holoprosencephaly in a large family (2009) (40)
- An electronic atlas of human malformation syndromes in diverse populations (2016) (39)
- Analysis of the human Sonic Hedgehog coding and promoter regions in sacral agenesis, triphalangeal thumb, and mirror polydactyly (1998) (39)
- 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 (2014) (39)
- A two-locus genetic interaction between LPHN3 and 11q predicts ADHD severity and long-term outcome (2011) (39)
- Abnormal sterol metabolism in holoprosencephaly (2010) (38)
- The CHD4-related syndrome: a comprehensive investigation of the clinical spectrum, genotype–phenotype correlations, and molecular basis (2019) (38)
- Holoprosencephaly in the genomics era (2018) (38)
- Muenke syndrome: An international multicenter natural history study (2016) (37)
- From the black widow spider to human behavior: Latrophilins, a relatively unknown class of G protein‐coupled receptors, are implicated in psychiatric disorders (2011) (37)
- Reciprocal mouse and human limb phenotypes caused by gain- and loss-of-function mutations affecting Lmbr1. (2001) (37)
- A broad range of ophthalmologic anomalies is part of the holoprosencephaly spectrum (2011) (36)
- The 2019 US medical genetics workforce: a focus on clinical genetics (2021) (36)
- Cohesin complex-associated holoprosencephaly. (2019) (36)
- In situ hybridization to cytogenetic bands of yeast artificial chromosomes covering 50% of human Xq24-Xq28 DNA. (1991) (36)
- Toward a better understanding of ADHD: LPHN3 gene variants and the susceptibility to develop ADHD (2010) (34)
- Craniosynostosis and Noonan syndrome with KRAS mutations: Expanding the phenotype with a case report and review of the literature (2015) (34)
- Structure of the human gene encoding the associated microfibrillar protein (MFAP1) and localization to chromosome 15q15-q21. (1994) (34)
- A novel phenotypic pattern in X-linked inheritance: craniofrontonasal syndrome maps to Xp22. (1997) (34)
- Gestational exposure to lovastatin followed by cardiac malformation misclassified as holoprosencephaly. (2005) (33)
- Additional EFNB1 mutations in craniofrontonasal syndrome (2008) (33)
- Prader-Willi syndrome. (2005) (33)
- The genomic structure, chromosome location, and analysis of the human DKK1 head inducer gene as a candidate for holoprosencephaly (2000) (30)
- FISH diagnosis of the common 57-kb deletion in CTNS causing cystinosis (2004) (29)
- Attention‐deficit/hyperactivity disorder (ADHD): feasibility of linkage analysis in a genetic isolate using extended and multigenerational pedigrees (2002) (29)
- Cornelia de Lange syndrome in diverse populations (2019) (29)
- Palatal and Oral Manifestations of Muenke Syndrome (FGFR3-Related Craniosynostosis) (2012) (29)
- VACTERL association with high prenatal lead exposure: similarities to animal models of lead teratogenicity. (1991) (29)
- SIX3 mutations with holoprosencephaly (2006) (29)
- ADGRL3 (LPHN3) variants are associated with a refined phenotype of ADHD in the MTA study (2016) (29)
- Abnormal sterol metabolism in holoprosencephaly: studies in cultured lymphoblasts (2007) (28)
- ARP3beta, the gene encoding a new human actin-related protein, is alternatively spliced and predominantly expressed in brain neuronal cells. (2000) (28)
- Mutational analysis of the Sonic Hedgehog gene in 220 newborns with oral clefts in a South American (ECLAMC) population. (2002) (28)
- Holoprosencephaly and agnathia spectrum: Presentation of two new patients and review of the literature (2010) (28)
- Clinical Characteristics of Patients with Unicoronal Synostosis and Mutations of Fibroblast Growth Factor Receptor 3: A Preliminary Report (2001) (28)
- Haploinsufficiency of ZNF462 is associated with craniofacial anomalies, corpus callosum dysgenesis, ptosis, and developmental delay (2017) (28)
- A CCR4-NOT Transcription Complex, Subunit 1, CNOT1, Variant Associated with Holoprosencephaly. (2019) (27)
- The genomic structure, chromosomal localization, and analysis of SIL as a candidate gene for holoprosencephaly (2002) (27)
- Whole-Exome Sequencing for Diagnosis of Turner Syndrome: Toward Next-Generation Sequencing and Newborn Screening (2017) (27)
- Mild expression of fibrodysplasia ossificans progressiva: a report of 3 cases. (1995) (27)
- The pit, the cleft and the web (2002) (26)
- BOC is a modifier gene in holoprosencephaly (2017) (26)
- Fibrodysplasia ossificans progressiva in two half-sisters: evidence for maternal mosaicism. (1996) (25)
- Loss-of-Function Variants in PPP1R12A: From Isolated Sex Reversal to Holoprosencephaly Spectrum and Urogenital Malformations. (2019) (25)
- A call for global action for rare diseases in Africa (2019) (23)
- Molecular testing in holoprosencephaly (2018) (22)
- Towards a more representative morphology: clinical and ethical considerations for including diverse populations in diagnostic genetic atlases (2016) (22)
- ADGRL3 (LPHN3) variants predict substance use disorder (2019) (21)
- Phenotype profile of a genetic mouse model for Muenke syndrome (2012) (21)
- Epilepsy in Muenke syndrome: FGFR3-related craniosynostosis. (2012) (21)
- Central Nervous System Embryogenesis and Its Failures (2002) (21)
- Analysis of brain metabolism by proton magnetic resonance spectroscopy (1H-MRS) in attention-deficit/hyperactivity disorder suggests a generalized differential ontogenic pattern from controls (2012) (21)
- Genomic structure, sequence, and mapping of human FGF8 with no evidence for its role in craniosynostosis/limb defect syndromes. (1997) (21)
- Loss of function in ROBO1 is associated with tetralogy of Fallot and septal defects (2017) (20)
- Polymorphisms in the neural nicotinic acetylcholine receptor α4 subunit (CHRNA4) are associated with ADHD in a genetic isolate (2009) (20)
- Human germline hedgehog pathway mutations predispose to fatty liver. (2017) (20)
- TGIF Mutations in Human Holoprosencephaly: Correlation between Genotype and Phenotype (2011) (20)
- Common 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 (2018) (20)
- Bi‐allelic IARS mutations in a child with intra‐uterine growth retardation, neonatal cholestasis, and mild developmental delay (2017) (19)
- Holoprosencephaly flashcards: A summary for the clinician (2010) (19)
- Craniosynostosis, Philadelphia type: a new autosomal dominant syndrome with sagittal craniosynostosis and syndactyly of the fingers and toes. (1996) (19)
- De Novo Variants in CNOT1, a Central Component of the CCR4-NOT Complex Involved in Gene Expression and RNA and Protein Stability, Cause Neurodevelopmental Delay. (2020) (18)
- Limb body wall complex, amniotic band sequence, or new syndrome caused by mutation in IQ Motif containing K (IQCK)? (2015) (18)
- Hearing loss in syndromic craniosynostoses: otologic manifestations and clinical findings. (2014) (18)
- Prenatal exposure to pesticides and risk for holoprosencephaly: a case-control study (2020) (18)
- Phenotype delineation of ZNF462 related syndrome (2019) (18)
- High Intellectual Function in Individuals with Mutation-Positive Microform Holoprosencephaly (2012) (18)
- Linkage and association analysis of ADHD endophenotypes in extended and multigenerational pedigrees from a genetic isolate (2015) (17)
- Potential cognitive endophenotypes in multigenerational families: segregating ADHD from a genetic isolate (2011) (17)
- Genes and chromosomal breakpoints in the Langer-Giedion syndrome region on human chromosome 8 (1999) (17)
- Clinical utility gene card for: Holoprosencephaly (2011) (17)
- Craniosynostoses : molecular genetics, principles of diagnosis, and treatment (2011) (17)
- Diagnosis and management of fragile X syndrome. (2005) (16)
- Holoprosencephaly and craniosynostosis: A report of two siblings and review of the literature (2010) (16)
- Holoprosencephaly in a family segregating novel variants in ZIC2 and GLI2 (2011) (16)
- Genomics and Epigenomics of Congenital Heart Defects: Expert Review and Lessons Learned in Africa. (2018) (16)
- Muenke Syndrome ( FGFR 3-Related Craniosynostosis ) : Expansion of the Phenotype and Review of the Literature (2007) (15)
- Novel heterozygous variants in KMT2D associated with holoprosencephaly (2019) (15)
- In-depth investigations of adolescents and adults with holoprosencephaly identify unique characteristics (2017) (15)
- Loss of chromosome 8p sequences in human breast carcinoma cell lines. (1994) (15)
- Love in the time of COVID‐19 (2020) (14)
- Sub-band deletion of 7q36.3 in a patient with ring chromosome 7: association with holoprosencephaly. (1996) (14)
- Loss-of-function mutations in FGF8 can be independent risk factors for holoprosencephaly (2018) (14)
- Rearrangement in the PITX2 and MIPOL1 genes in a patient with a t(4;14) chromosome (2003) (14)
- Talocalcaneal coalition in Muenke syndrome: Report of a patient, review of the literature in FGFR‐related craniosynostoses, and consideration of mechanism (2013) (14)
- Novel SNP at the common primer site of exon IIIa of FGFR2 gene causes error in molecular diagnosis of craniosynostosis syndrome. (2001) (14)
- Analysis of patients with craniosynostosis syndromes for a pro246Arg mutation of FGFR4. (1998) (14)
- Clinical epidemiology of congenital heart disease in Nigerian children, 2012-2017. (2018) (13)
- Holoprosencephaly and ectrodactyly: Report of three new patients and review of the literature (2010) (13)
- Expanding the phenotypic expression of Sonic Hedgehog mutations beyond holoprosencephaly. (2015) (13)
- Clinical and Demographic Evaluation of a Holoprosencephaly Cohort From the Kyoto Collection of Human Embryos (2018) (12)
- SIX3 deletions and incomplete penetrance in families affected by holoprosencephaly (2018) (12)
- Turner syndrome in diverse populations (2019) (12)
- The molecular genetics of holoprosencephaly: a model of brain development for the next century (1999) (12)
- Imaging studies in a unique familial dysmyelinating disorder. (1998) (12)
- Minimal evidence for a direct involvement of twisted gastrulation homolog 1 (TWSG1) gene in human holoprosencephaly. (2011) (12)
- Low-level parental mosaicism affects the recurrence risk of holoprosencephaly (2018) (11)
- Finding genes involved in human developmental disorders. (1995) (11)
- Lobar holoprosencephaly in an infant born to a mother with classic phenylketonuria. (2000) (11)
- Identifying environmental risk factors and gene–environment interactions in holoprosencephaly (2020) (11)
- PRDM15 loss of function links NOTCH and WNT/PCP signaling to patterning defects in holoprosencephaly (2020) (11)
- Executive Function and Adaptive Behavior in Muenke Syndrome. (2015) (11)
- Exome Sequencing and Congenital Heart Disease in Sub-Saharan Africa. (2021) (11)
- Rubinstein–Taybi syndrome in diverse populations (2020) (10)
- Holoprosencephaly from conception to adulthood (2018) (10)
- Holoprosencephaly-Polydactyly syndrome: in search of an etiology. (2008) (10)
- Maternally inherited heterozygous sequence change in the sonic hedgehog gene in a male patient with bilateral closed‐lip schizencephaly and partial absence of the corpus callosum (2009) (10)
- Holoprosencephaly–polydactyly/pseudotrisomy 13: a presentation of two new cases and a review of the literature (2012) (9)
- Structure of the human Lanosterol Synthase gene and its analysis as a candidate for holoprosencephaly (HPE1) (1999) (9)
- Biallelic variants in KYNU cause a multisystemic syndrome with hand hyperphalangism. (2020) (9)
- The structure and function of genes causing human holoprosencephaly (2000) (9)
- Medical genetics and genomic medicine in the United States. Part 2: Reproductive genetics, newborn screening, genetic counseling, training, and registries (2017) (9)
- Anomalies of the forebrain with radial limb defects: Garcia-Lurie-Steinfeld syndrome? (2004) (9)
- Hearing loss in syndromic craniosynostoses: introduction and consideration of mechanisms. (2014) (9)
- Regional assignment of the human homeobox-containing gene EN1 to chromosome 2q13-q21. (1993) (8)
- Fibroblast Growth Factor Receptor-Related Skeletal Disorders (1998) (8)
- Unique Alterations of an Ultraconserved Non-Coding Element in the 3′UTR of ZIC2 in Holoprosencephaly (2012) (8)
- Infantile Cirrhosis, Growth Impairment, and Neurodevelopmental Anomalies Associated with Deficiency of PPP1R15B. (2016) (8)
- Semilobar holoprosencephaly in a 46,XY female fetus (2001) (8)
- Mutations in sphingolipid metabolism genes are associated with ADHD (2020) (8)
- Comparison of mutation findings in ZIC2 between microform and classical holoprosencephaly in a Brazilian cohort. (2012) (7)
- Holoprosencephaly flashcards: An updated summary for the clinician (2018) (7)
- Identification of a novel PCNT founder pathogenic variant in the Israeli Druze population. (2020) (7)
- A region-specific microdissection library for human chromosome 2p23-->p21 and the analysis of an interstitial deletion of 2p21. (1995) (7)
- Individualized genomics and the future of translational medicine (2013) (7)
- Diversity and dysmorphology. (2019) (7)
- Klinefelter syndrome. (2005) (7)
- Evidence for SHH as a candidate gene for encephalocele. (2012) (7)
- Congenital Heart Disease: Molecular Genetics, Principles of Diagnosis and Treatment (2015) (6)
- Genetics and genomic medicine around the world (2014) (6)
- Medical genetics and genomic medicine in the United States of America. Part 1: history, demographics, legislation, and burden of disease (2017) (6)
- Deletion of 8q24 in an adult with mild dysmorphic features, developmental delay, and ketotic hypoglycemia (2010) (6)
- Partial deletions of a sequence family ("DXS278") and its physical linkage to steroid sulfatase as detected by pulsed-field gel electrophoresis. (1990) (6)
- A child with multiple congenital anomalies due to partial trisomy 7q22.1 → qter resulting from a maternally inherited balanced translocation: a case report and review of literature (2018) (6)
- Structure of the human Lanosterol synthase gene and its analysis as a candidate for holoprosencephaly (HPE1). (1999) (6)
- Cover (1999) (5)
- Correction: The CHD4-related syndrome: a comprehensive investigation of the clinical spectrum, genotype–phenotype correlations, and molecular basis (2019) (5)
- Cytogenetics and holoprosencephaly: A chromosomal microarray study of 222 individuals with holoprosencephaly (2018) (5)
- Locus homogeneity between syndactyly type 1A and craniosynostosis Philadelphia type? (2008) (5)
- New Syndrome of Congenital Circumferential Skin Folds Associated with Multiple Congenital Anomalies (2012) (5)
- Challenging issues arising in counseling families experiencing holoprosencephaly (2018) (4)
- Comorbidity of congenital heart defects and holoprosencephaly is likely genetically driven and gene‐specific (2020) (4)
- Skeletal Dysplasias: Craniosynostosis Syndromes and Skeletal Dysplasias Caused by Mutations in Fibroblast Growth Factor Receptor Genes (2003) (4)
- Introducing in AJMG Part A: Case reports in diverse populations (2018) (4)
- Introducing in AJMG Part A: Genetic Syndromes in Adults (2019) (4)
- Loss-of-function mutations in the human GLI2 gene cause holoprosencephaly and familial pan-hypopituitarism (2002) (4)
- Mentors without Borders (2016) (4)
- Extracephalic manifestations of nonchromosomal, nonsyndromic holoprosencephaly (2018) (4)
- Retrospective assessment of childhood ADHD symptoms for diagnosis in adults: validity of a short 8-item version of the Wender-Utah Rating Scale (2016) (4)
- Rare variants in KDR, encoding VEGF Receptor 2, are associated with tetralogy of Fallot (2021) (4)
- Standing on the shoulders of giants (2017) (4)
- Introduction to the American Journal of Medical Genetics Part C on holoprosencephaly (2010) (4)
- Functional analysis of Sonic Hedgehog variants associated with holoprosencephaly in humans using a CRISPR/Cas9 zebrafish model (2020) (4)
- Tuberous sclerosis in a patient from Nigeria (2019) (3)
- Holoprosencephaly: ZIC2 mutation in a case with panhypopituitarism (2014) (3)
- Brief Gene Mapping Reports A / B / C / D / E / F / G (2002) (3)
- Holoprosencephaly in an 8.5-week triploidy gestation. (2009) (3)
- Erratum: Opiz G/BBB syndrome in Xp22: Mutations in the MID1 gene cluster in the carboxy-terminal domain (American Journal of Human Genetics (September 1998) 63 (703-710)) (1998) (3)
- The Healing Energy of Breath in Traditional Chinese Medicine and Other Eastern Traditions (2012) (3)
- Quantitative Craniofacial Analysis and Generation of Human Induced Pluripotent Stem Cells for Muenke Syndrome: A Case Report (2021) (3)
- Rare hypomorphic human variation in the heptahelical domain of SMO contributes to holoprosencephaly phenotypes (2020) (3)
- Molecular analysis of the Noggin (NOG) gene in holoprosencephaly patients. (2012) (3)
- Noonan syndrome. (2014) (3)
- Issue Information (2017) (3)
- Analysis of Smoothened as a candidate gene for human holoprosencephaly (2002) (2)
- Reply to “Statin Drugs and Congenital Anomalies” by Gibb and Scialli (2005) (2)
- Looking back and looking forward (2018) (2)
- Non‐syndromic hemihyperplasia in a male and his mother (2003) (2)
- Chromosome microdissection and cloning in human genome and genetic disease (1991) (2)
- Molecular characterization of Pfeiffer syndrome: Implications for prognosis and genetic counseling. (2003) (2)
- Submicroscopic familial chromosomal translocation between 7q and 12p mimicking an autosomal dominant holoprosencephaly syndrome (2010) (2)
- Year : 2011 A cooperative interaction between LPHN 3 and 11 q doubles the risk for ADHD (2011) (2)
- Diversity and dysmorphology. (2019) (2)
- When to suspect a genetic syndrome. (2012) (2)
- Regulation of a remote Sonic hedgehog forebrain enhancer by the Six 3 homeoprotein (2009) (2)
- Determination of the chromosomal location and genomic structure of the Hedgehog-Interacting Protein gene, and analysis of its role in Holoprosencephaly (2000) (2)
- Prenatal diagnosis of diencephalic‐mesencephalic junction dysplasia: Fetal magnetic resonance imaging phenotypes, genetic diagnoses, and outcomes (2021) (2)
- Frontonasal dysplasia and arhinencephaly resulting from unbalanced segregation of a maternal t(2;7)(q31;q36) (1992) (2)
- The search for genes that cause holoprosencephaly: possible approaches. (1996) (2)
- Generation of human induced pluripotent stem cell line (NIDCRi001-A) from a Muenke syndrome patient with an FGFR3 p.Pro250Arg mutation. (2020) (2)
- An International Summit in Human Genetics and Genomics: Empowering clinical practice and research in developing countries (2019) (2)
- Rare hypomorphic human variation in the heptahelical domain of SMOOTHENED contributes to holoprosencephaly phenotypes (2020) (1)
- Mutations in ZIC2 in Human Holoprosencephaly: Comprehensive Analysis of 153 Individuals and Description of a Novel ZIC2-Specfic Phenotype (2010) (1)
- The Genetic Workup for Congenital Structural Heart Disease: From Clinical to Genetic Evaluation (2015) (1)
- [Utility of the Wender-Utah rating scale and the checklists for the diagnosis of familial attention deficit hyperactivity disorder in adults. Convergent and concurrent validities]. (2010) (1)
- Journal size increases to four volumes per year Editorial Board additions (1995) (1)
- The human inactive X chromosome modulates expression of the active X chromosome (2022) (1)
- Identification of novel mutations in SHH and ZIC2 (2001) (1)
- Uncommon Craniosynostosis Syndromes: A Review of Thirteen Conditions (2011) (1)
- A gene-by-gene mosaic of dosage compensation strategies on the human X chromosome (2021) (1)
- Phenotypic diversity amongst patients with an isodicentric y chromosome (2013) (1)
- Comprar Craniosynostoses. Molecular genetics, principles of diagnosis, and treatment | M. Muenke | 9783805595940 | Karger AG (2011) (1)
- Early inspirations from times gone by (2018) (1)
- Craniosynostosis: A Historical Overview (2011) (1)
- Werner Schmid, 1930–2002 (2002) (0)
- Figure 5. [Microforms of holoprosencephaly (HPE) spectrum...]. (2013) (0)
- Muenke syndrome (2015) (0)
- Issue Information (2018) (0)
- Mutational analysis indicates that the hereditary sacral agenesis gene, HLXB9, i s the sole locus for Currarino Triad and different mutation classes produce equivalent phenotypes. (2000) (0)
- A common genetic network underlies substance use disorders and disruptive or externalizing disorders (2012) (0)
- Issue Information (2014) (0)
- Figure 2. [Schema of the FGFR3 proteinThe...]. (2016) (0)
- Issue Information (2016) (0)
- 2011 William Allan Award introduction: John M. Opitz. (2012) (0)
- The 2019 medical genetics workforce: a focus on laboratory geneticists. (2023) (0)
- genomic structure of the Hedgehog-Interacting (2000) (0)
- Foreword to volume 3, issue 6 (2015) (0)
- Low-level parental mosaicism affects the recurrence risk of holoprosencephaly (2018) (0)
- Medical laboratory diagnostics dictionary in three languages, English, German, French; By Ursula Spranger and Jürgen Grové. Published by Verlag Alexandre Hatier, Berlin Paris. Available from: International Book Distributors (i.b.d.), Ltd., 1993, 439 pp., $186 USA (1995) (0)
- Issue Information (2014) (0)
- Issue Information (2014) (0)
- Statin drugs and congenital anomalies (2005) (0)
- Figure 3. [Lobar HPEA. MRI in axial...]. (2013) (0)
- Analysis of a Noncoding Region of the SIX3 Gene in Patients with Holoprosencephaly (2016) (0)
- Issue Information (2015) (0)
- Genotype-phenotype correlation in two patients with familiar Pfeiffer syndrome (1997) (0)
- Missense substitutions in the GAS1 protein present in holoprosencephaly patients reduce the affinity for its ligand, SHH (2011) (0)
- Molecular Analysis ofthe18q-Syndrome-andCorrelation withPhenotype (1993) (0)
- Issue Information (2014) (0)
- Figure 2. [Semilobar HPE A. MRI showing...]. (2013) (0)
- Congenital Adrenal Hyperplasia - An Unrecognized Cause of Reversible Infertility (2010) (0)
- Figure 1. [Alobar HPE A. MRI of...]. (2013) (0)
- Correction to: Rare variants in KDR, encoding VEGF Receptor 2, are associated with tetralogy of Fallot (2021) (0)
- Table 3. [A Comparison of Muenke Syndrome...]. (2016) (0)
- Title Page / Table of Contents / Editorial / Preface / Foreword (2011) (0)
- Molecular Genetics of Holoprosencephaly (2000) (0)
- Table 5. [FGFR3 Pathogenic Variants Discussed in This GeneReview]. (2016) (0)
- Figure 1. [Diagram of the pathogenic C>G...]. (2016) (0)
- Table 1. [Summary of Molecular Genetic Testing Used in Muenke syndrome]. (2014) (0)
- Figure 4. [Middle interhemispheric fusion (MIHF) A...]. (2013) (0)
- Issue Information (2019) (0)
- Issue Information (2017) (0)
- Extended mutational analysis and embryonic expression of the hereditary sacral agenesis gene HLXB9 (2000) (0)
- Onward and upward (2019) (0)
- Issue Information (2015) (0)
- Issue Information (2014) (0)
- High prenatal lead levels and congenital anomalies. (1991) (0)
- Table 4. [Craniosynostosis Clinic Populations with a...]. (2016) (0)
- Issue Information (2015) (0)
- CRISPR Gene Editing Successfully Treats Lethal Monogenic Lung Disease in Utero (2019) (0)
- Table 1. [Genes Associated with Autosomal Dominant Nonsyndromic HPE]. (2013) (0)
- Cover Image, Volume 173A, Number 9, September 2017. (2017) (0)
- Issue Information (2015) (0)
- Introduction (2018) (0)
- Erratum: In-depth investigations of adolescents and adults with holoprosencephaly identify unique characteristics (2018) (0)
- Issue Information (2016) (0)
- Hajdu‐Cheney syndrome with atypical cardiovascular abnormalities (2022) (0)
- The CHD4-related syndrome: a comprehensive investigation of the clinical spectrum, genotype–phenotype correlations, and molecular basis (2019) (0)
- Issue Information (2017) (0)
- Circle of Willis anomalies in Turner syndrome: Absent A1 segment of the anterior cerebral artery. (2019) (0)
- Front & Back Matter (2012) (0)
- Erratum: Mutation analysis and embryonic expression of the HLXB9 Currarino sundrome gene (American Journal of Human Genetics (2000) 66 (769)) (2000) (0)
- Reply to Professor Frézal (1990) (0)
- Issue Information (2017) (0)
- A call for global action for rare diseases in Africa (2019) (0)
- P148: Novel molecular diagnoses in individuals with holoprosencephaly and prior negative sequencing* (2023) (0)
- Issue Information (2016) (0)
- Genetic–environmental interaction in a unique case of Muenke syndrome with intracranial hypertension (2011) (0)
- A child with multiple congenital anomalies due to partial trisomy 7q22.1 → qter resulting from a maternally inherited balanced translocation: a case report and review of literature (2018) (0)
- Neural Plasticity in Obesity and Psychiatric Disorders (2016) (0)
- Mutations in ZIC 2 in Human Holoprosencephaly : Comprehensive Analysis of 153 Individuals and Description of a Novel ZIC 2-Specfic Phenotype (2009) (0)
- Issue Information (2016) (0)
- Variable gene expression in turner syndrome patients with bicuspid aortic valve (2014) (0)
- Whole exome sequencing in monozygotic twins discordant for premature ovarian insufficiency (2015) (0)
- Cover, Volume 41, Issue 12 (2020) (0)
- The genetics of addiction (2012) (0)
- OP-BRAI190216 2631..2643 (2019) (0)
- Mutation in the IgII domain of FGFR2 causes the eponymous form of Pfeiffer syndrome. (2001) (0)
- The Human Genome Project and Its Impact on Understanding Developmental Disabilities (2019) (0)
- Protein gene , and analysis of its roleA (0)
- Correction: The CHD4-related syndrome: a comprehensive investigation of the clinical spectrum, genotype–phenotype correlations, and molecular basis (2019) (0)
- Parental X chromosome inheritance and variable gene expression in turner syndrome (2014) (0)
- Abstracts of the 17th Biennial Congress of the Southern African Society for Human Genetics Conference organiser (2017) (0)
- Cover Image, Volume 173A, Number 4, April 2017. (2017) (0)
- Figure 6. [Facial findings in holoprosencephaly (HPE)...]. (2013) (0)
- From developmental genes to dysmorphology: human development at its best (2004) (0)
- ' s report Title : The 5-HTTLPR polymorphism of the serotonin transporter gene and short term behavioral response to methylphenidate in children with ADHD Version : 2 Date : 23 February 2009 (0)
- Cover (2020) (0)
- Special Issue: Holoprosencephaly (2010) (0)
- Issue Information (2017) (0)
- Molecular map of chromosome 21 mental retardation (1991) (0)
- A-1 Genetic studies in holoprosencephaly as a model to study forebrain development (2002) (0)
- OFDI SYNDROME. REPLY TO PROFESSOR FREZAL (1990) (0)
- Issue Information (2022) (0)
- Correction (1979) (0)
- Issue Information (2016) (0)
- Issue Information (2018) (0)
- Patients within the broad holoprosencephaly spectrum have distinct and subtle ophthalmologic anomalies: Response to Khan (2012) (0)
- [Attention deficit hyperactivity behavioral phenotype dimensions of adults from Antioquian families using the Wender-Utah Scale -Spanish version]. (2009) (0)
- Contents Vol. 89, 2000 (2000) (0)
- Dr. John L. Hamerton steps-down from the Associate Editorship (1995) (0)
- Subject Index Vol. 89, 2000 (2000) (0)
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What Schools Are Affiliated With Maximilian Muenke?
Maximilian Muenke is affiliated with the following schools:
