Isolated resonances in conductance fluctuations in ballistic billiards

We study numerically quantum transport through a billiard with a classically mixed phase space. In particular, we calculate the conductance and Wigner delay time by employing a recursive Green's function method. We find sharp, isolated resonances with a broad distribution of resonance widths in both the conductance and the Wigner time, in contrast to the well-known smooth conductance fluctuations of completely chaotic billiards. In order to elucidate the origin of the isolated resonances, we calculate the associated scattering states as well as the eigenstates of the corresponding closed system. As a result, we find a one-to-one correspondence between the resonant scattering states and eigenstates of the closed system. The broad distribution of resonance widths is traced to the structure of the classical phase space. Husimi representations of the resonant scattering states show a strong overlap either with the regular regions in phase space or with the hierarchical parts surrounding the regular regions. We are thus lead to a classification of the resonant states into regular and hierarchical, depending on their phase space portrait.Comment: 2 pages, 5 figures, to be published in J. Phys. Soc. Jpn., proceedings Localisation 2002 (Tokyo, Japan

Variable Anterior Segment Dysgenesis and Cardiac Anomalies Caused by a Novel Truncating Variant of FOXC1

Anterior segment dysgenesis (ASD) encompasses a wide spectrum of developmental abnormalities of the anterior ocular segment, including congenital cataract, iris hypoplasia, aniridia, iridocorneal synechiae, as well as Peters, Axenfeld, and Rieger anomalies. Here, we report a large five-generation Caucasian family exhibiting atypical syndromic ASD segregating with a novel truncating variant of FOXC1. The family history is consistent with highly variable autosomal dominant symptoms including isolated glaucoma, iris hypoplasia, aniridia, cataract, hypothyroidism, and congenital heart anomalies. Whole-exome sequencing revealed a novel variant [c.313_314insA; p.(Tyr105*)] in FOXC1 that disrupts the α-helical region of the DNA-binding forkhead box domain. In vitro studies using a heterologous cell system revealed aberrant cytoplasmic localization of FOXC1 harboring the Tyr105* variant, likely precluding downstream transcription function. Meta-analysis of the literature highlighted the intrafamilial variability related to FOXC1 truncating alleles. This study highlights the clinical variability in ASD and signifies the importance of combining both clinical and molecular analysis approaches to establish a complete diagnosis

Coherent Manipulation of Quantum Delta-kicked Dynamics: Faster-than-classical Anomalous Diffusion

Large transporting regular islands are found in the classical phase space of a modified kicked rotor system in which the kicking potential is reversed after every two kicks. The corresponding quantum system, for a variety of system parameters and over long time scales, is shown to display energy absorption that is significantly faster than that associated with the underlying classical anomalous diffusion. The results are of interest to both areas of quantum chaos and quantum control.Comment: 6 pages, 4 figures, to appear in Physical Review

New Class of Eigenstates in Generic Hamiltonian Systems

In mixed systems, besides regular and chaotic states, there are states supported by the chaotic region mainly living in the vicinity of the hierarchy of regular islands. We show that the fraction of these hierarchical states scales as $\hbar^{-\alpha}$ and relate the exponent $\alpha=1-1/\gamma$ to the decay of the classical staying probability $P(t)\sim t^{-\gamma}$. This is numerically confirmed for the kicked rotor by studying the influence of hierarchical states on eigenfunction and level statistics.Comment: 4 pages, 3 figures, Phys. Rev. Lett., to appea

Expanding the genotypic spectrum of Jalili syndrome: Novel CNNM4 variants and uniparental isodisomy in a north American patient cohort

Jalili syndrome is a rare multisystem disorder with the most prominent features consisting of cone‐rod dystrophy and amelogenesis imperfecta. Few cases have been reported in the Americas. Here we describe a case series of patients with Jalili syndrome examined at the National Eye Institute’s Ophthalmic Genetics clinic between 2016 and 2018. Three unrelated sporadic cases were systematically evaluated for ocular phenotype and determined to have cone‐rod dystrophy with bull’s eye maculopathy, photophobia, and nystagmus. All patients had amelogenesis imperfecta. Two of these patients had Guatemalan ancestry and the same novel homozygous CNNM4 variant (p.Arg236Trp c.706C > T) without evidence of consanguinity. This variant met likely pathogenic criteria by the American College of Medical Genetics guidelines. An additional patient had a homozygous deleterious variant in CNNM4 (c.279delC p.Phe93Leufs*31), which resulted from paternal uniparental isodisomy for chromosome 2p22‐2q37. This individual had additional syndromic features including developmental delay and spastic diplegia, likely related to mutations at other loci. Our work highlights the genotypic variability of Jalili syndrome and expands the genotypic spectrum of this condition by describing the first series of patients seen in the United States.Peer Reviewedhttps://deepblue.lib.umich.edu/bitstream/2027.42/154406/1/ajmga61484_am.pdfhttps://deepblue.lib.umich.edu/bitstream/2027.42/154406/2/ajmga61484.pd

Control of Dynamical Localization

Control over the quantum dynamics of chaotic kicked rotor systems is demonstrated. Specifically, control over a number of quantum coherent phenomena is achieved by a simple modification of the kicking field. These include the enhancement of the dynamical localization length, the introduction of classical anomalous diffusion assisted control for systems far from the semiclassical regime, and the observation of a variety of strongly nonexponential lineshapes for dynamical localization. The results provide excellent examples of controlled quantum dynamics in a system that is classically chaotic and offer new opportunities to explore quantum fluctuations and correlations in quantum chaos.Comment: 9 pages, 7 figures, to appear in Physical Review

Geographic constraints on social network groups

Social groups are fundamental building blocks of human societies. While our social interactions have always been constrained by geography, it has been impossible, due to practical difficulties, to evaluate the nature of this restriction on social group structure. We construct a social network of individuals whose most frequent geographical locations are also known. We also classify the individuals into groups according to a community detection algorithm. We study the variation of geographical span for social groups of varying sizes, and explore the relationship between topological positions and geographic positions of their members. We find that small social groups are geographically very tight, but become much more clumped when the group size exceeds about 30 members. Also, we find no correlation between the topological positions and geographic positions of individuals within network communities. These results suggest that spreading processes face distinct structural and spatial constraints.Comment: 10 pages, 5 figure

Monoallelic variants resulting in substitutions of MAB21L1 Arg51 Cause Aniridia and microphthalmia

Classical aniridia is a congenital and progressive panocular disorder almost exclusively caused by heterozygous loss-of-function variants at the PAX6 locus. We report nine individuals from five families with severe aniridia and/or microphthalmia (with no detectable PAX6 mutation) with ultrarare monoallelic missense variants altering the Arg51 codon of MAB21L1. These mutations occurred de novo in 3/5 families, with the remaining families being compatible with autosomal dominant inheritance. Mice engineered to carry the p. Arg51Leu change showed a highly-penetrant optic disc anomaly in heterozygous animals with severe microphthalmia in homozygotes. Substitutions of the same codon (Arg51) in MAB21L2, a close homolog of MAB21L1, cause severe ocular and skeletal malformations in humans and mice. The predicted nucleotidyltransferase function of MAB21L1 could not be demonstrated using purified protein with a variety of nucleotide substrates and oligonucleotide activators. Induced expression of GFP-tagged wildtype and mutant MAB21L1 in human cells caused only modest transcriptional changes. Mass spectrometry of immunoprecipitated protein revealed that both mutant and wildtype MAB21L1 associate with transcription factors that are known regulators of PAX6 (MEIS1, MEIS2 and PBX1) and with poly(A) RNA binding proteins. Arg51 substitutions reduce the association of wild-type MAB21L1 with TBL1XR1, a component of the NCoR complex. We found limited evidence for mutation-specific interactions with MSI2/Musashi-2, an RNA-binding proteins with effects on many different developmental pathways. Given that biallelic loss-of-function variants in MAB21L1 result in a milder eye phenotype we suggest that Arg51-altering monoallelic variants most plausibly perturb eye development via a gain-of-function mechanism

Correlated /\c-/\cbar production in e+e- annihilations at sqrt{s}~10.5 GeV

Using 13.6/fb of continuum two-jet e+e- -> ccbar events collected with the CLEO detector, we have searched for baryon number correlations at the primary quark level. We have measured the likelihood for a /\c+ charmed baryon to be produced in the hemisphere opposite a /\c- relative to the likelihood for a /\c+ charmed baryon to be produced opposite an anticharmed meson Dbar; in all cases, the reconstructed hadrons must have momentum greater than 2.3 GeV/c. We find that, given a /\c- (reconstructed in five different decay modes), a /\c+ is observed in the opposite hemisphere (0.72+/-0.11)% of the time (not corrected for efficiency). By contrast, given a Dbar in one hemisphere, a /\c+ is observed in the opposite hemisphere only (0.21+/-0.02)% of the time. Normalized to the total number of either /\c- or Dbar ``tags'', it is therefore 3.52+/-0.45+/-0.42 times more likely to find a /\c+ opposite a /\c- than a Dbar meson. This enhancement is not observed in the JETSET 7.3 e+e- -> ccbar Monte Carlo simulation.Comment: 19 pages, Latex, one figure separat

Electromagnetic properties of 21O for benchmarking nuclear Hamiltonians

The structure of exotic nuclei provides valuable tests for state-of-the-art nuclear theory. In particular electromagnetic transition rates are more sensitive to aspects of nuclear forces and many-body physics than excitation energies alone. We report the first lifetime measurement of excited states in $^{21}$O, finding $\tau_{1/2^+}=420^{+35}_{-32}\text{(stat)}^{+34}_{-12}\text{(sys)}$\,ps. This result together with the deduced level scheme and branching ratio of several $\gamma$-ray decays are compared to both phenomenological shell-model and ab initio calculations based on two- and three-nucleon forces derived from chiral effective field theory. We find that the electric quadrupole reduced transition probability of $\rm B(E2;1/2^+ \rightarrow 5/2^+_{g.s.}) = 0.71^{+0.07\ +0.02}_{-0.06\ -0.06}$~e$^2$fm$^4$, derived from the lifetime of the$1/2^+$ state, is smaller than the phenomenological result where standard effective charges are employed, suggesting the need for modifications of the latter in neutron-rich oxygen isotopes. We compare this result to both large-space and valence-space ab initio calculations, and by using multiple input interactions we explore the sensitivity of this observable to underlying details of nuclear forces.Comment: 23 pages, 3 figure