Experiences in microarray-based evaluation of developmental disabilities and congenital anomalies.

BACKGROUND: Chromosomal microarray analysis is the first-tier test for the evaluation of developmental disabilities and congenital anomalies. In this report, we present CMA results of 971 patient and 301 parent samples. MATERIALS AND METHODS: Among 971 patient samples, 133 (13.6%) had pathogenic variants. RESULTS: While analyzing, an "in-house" variant database was also used besides other databases. Owing to this, we have found chance to report the most frequent benign variants in Turkish population. CONCLUSION: With the additional data we acquired in this study, we also emphasized the high potential of CMA in revealing single gene disorders and novel gene-phenotype associations as well as copy number variations.

Rashba Interaction and Local Magnetic Moments in a Graphene-BN Heterostructure Intercalated with Au.

We intercalate a van der Waals heterostructure of graphene and hexagonal boron nitride with Au, by encapsulation, and show that the Au at the interface is two dimensional. Charge transfer upon current annealing indicates the redistribution of the Au and induces splitting of the graphene band structure. The effect of an in-plane magnetic field confirms that the splitting is due to spin splitting and that the spin polarization is in the plane, characteristic of a Rashba interaction with a magnitude of approximately 25 meV. Consistent with the presence of an intrinsic interfacial electric field we show that the splitting can be enhanced by an applied displacement field in dual gated samples. A giant negative magnetoresistance, up to 75%, and a field induced anomalous Hall effect at magnetic fields <1 T are observed. These demonstrate that the hybridized Au has a magnetic moment and suggests the proximity to the formation of a collective magnetic phase. These effects persist close to room temperature.

Quantum Transport and Observation of Dyakonov-Perel Spin-Orbit Scattering in Monolayer MoS_{2}.

Monolayers of group 6 transition metal dichalcogenides are promising candidates for future spin-, valley-, and charge-based applications. Quantum transport in these materials reflects a complex interplay between real spin and pseudospin (valley) relaxation processes, which leads to either positive or negative quantum correction to the classical conductivity. Here we report experimental observation of a crossover from weak localization to weak antilocalization in highly n-doped monolayer MoS_{2}. We show that the crossover can be explained by a single parameter associated with electron spin lifetime of the system. At low temperatures and high carrier densities, the spin lifetime is inversely proportional to momentum relaxation time; this indicates that spin relaxation occurs via a Dyakonov-Perel mechanism.

Controlling many-body states by the electric-field effect in a two-dimensional material.

To understand the complex physics of a system with strong electron-electron interactions, the ideal is to control and monitor its properties while tuning an external electric field applied to the system (the electric-field effect). Indeed, complete electric-field control of many-body states in strongly correlated electron systems is fundamental to the next generation of condensed matter research and devices. However, the material must be thin enough to avoid shielding of the electric field in the bulk material. Two-dimensional materials do not experience electrical screening, and their charge-carrier density can be controlled by gating. Octahedral titanium diselenide (1T-TiSe2) is a prototypical two-dimensional material that reveals a charge-density wave (CDW) and superconductivity in its phase diagram, presenting several similarities with other layered systems such as copper oxides, iron pnictides, and crystals of rare-earth elements and actinide atoms. By studying 1T-TiSe2 single crystals with thicknesses of 10 nanometres or less, encapsulated in two-dimensional layers of hexagonal boron nitride, we achieve unprecedented control over the CDW transition temperature (tuned from 170 kelvin to 40 kelvin), and over the superconductivity transition temperature (tuned from a quantum critical point at 0 kelvin up to 3 kelvin). Electrically driving TiSe2 over different ordered electronic phases allows us to study the details of the phase transitions between many-body states. Observations of periodic oscillations of magnetoresistance induced by the Little-Parks effect show that the appearance of superconductivity is directly correlated with the spatial texturing of the amplitude and phase of the superconductivity order parameter, corresponding to a two-dimensional matrix of superconductivity. We infer that this superconductivity matrix is supported by a matrix of incommensurate CDW states embedded in the commensurate CDW states. Our results show that spatially modulated electronic states are fundamental to the appearance of two-dimensional superconductivity.

Plasmons in graphene moiré superlattices.

Moiré patterns are periodic superlattice structures that appear when two crystals with a minor lattice mismatch are superimposed. A prominent recent example is that of monolayer graphene placed on a crystal of hexagonal boron nitride. As a result of the moiré pattern superlattice created by this stacking, the electronic band structure of graphene is radically altered, acquiring satellite sub-Dirac cones at the superlattice zone boundaries. To probe the dynamical response of the moiré graphene, we use infrared (IR) nano-imaging to explore propagation of surface plasmons, collective oscillations of electrons coupled to IR light. We show that interband transitions associated with the superlattice mini-bands in concert with free electrons in the Dirac bands produce two additive contributions to composite IR plasmons in graphene moiré superstructures. This novel form of collective modes is likely to be generic to other forms of moiré-forming superlattices, including van der Waals heterostructures.

Quantum Transport Detected by Strong Proximity Interaction at a Graphene-WS2 van der Waals Interface.

Magnetotransport measurements demonstrate that graphene in a van der Waals heterostructure is a sensitive probe of quantum transport in an adjacent WS2 layer via strong Coulomb interactions. We observe a large low-field magnetoresistance (≫ e(2)/h) and a -ln T temperature dependence of the resistance. In-plane magnetic field resistance indicates the origin is orbital and nonclassical. We demonstrate a strong electron-hole asymmetry in the mobility and coherence length of graphene demonstrating the presence of localized Coulomb interactions with ionized donors in the WS2 substrate, which ultimately leads to screening as the Fermi level of graphene is tuned toward the conduction band of WS2. This leads us to conclude that graphene couples to quantum localization processes in WS2 via the Coulomb interaction and results in the observed signatures of quantum transport. Our results show that theoretical descriptions of the van der Waals interface should not ignore localized strong correlations.

Creating a Stable Oxide at the Surface of Black Phosphorus.

The stability of the surface of in situ cleaved black phosphorus crystals upon exposure to atmosphere is investigated with synchrotron-based photoelectron spectroscopy. After 2 days atmosphere exposure a stable subnanometer layer of primarily P2O5 forms at the surface. The work function increases by 0.1 eV from 3.9 eV for as-cleaved black phosphorus to 4.0 eV after formation of the 0.4 nm thick oxide, with phosphorus core levels shifting by <0.1 eV. The results indicate minimal charge transfer, suggesting that the oxide layer is suitable for passivation or as an interface layer for further dielectric deposition.

Anomalous spectral features of a neutral bilayer graphene.

Graphene and its bilayer are two-dimensional systems predicted to show exciting many-body effects near the neutrality point. The ideal tool to investigate spectrum reconstruction effects is angle-resolved photoemission spectroscopy (ARPES) as it probes directly the band structure with information about both energy and momentum. Here we reveal, by studying undoped exfoliated bilayer graphene with ARPES, two essential aspects of its many-body physics: the electron-phonon scattering rate has an anisotropic k-dependence and the type of electronic liquid is non-Fermi liquid. The latter behavior is evident from an observed electron-electron scattering rate that scales linearly with energy from 100 meV to 600 meV and that is associated with the proximity of bilayer graphene to a two-dimensional quantum critical point of competing orders.

Spin-orbit proximity effect in graphene.

The development of spintronics devices relies on efficient generation of spin-polarized currents and their electric-field-controlled manipulation. While observation of exceptionally long spin relaxation lengths makes graphene an intriguing material for spintronics studies, electric field modulation of spin currents is almost impossible due to negligible intrinsic spin-orbit coupling of graphene. In this work, we create an artificial interface between monolayer graphene and few-layer semiconducting tungsten disulphide. In these devices, we observe that graphene acquires spin-orbit coupling up to 17 meV, three orders of magnitude higher than its intrinsic value, without modifying the structure of the graphene. The proximity spin-orbit coupling leads to the spin Hall effect even at room temperature, and opens the door to spin field effect transistors. We show that intrinsic defects in tungsten disulphide play an important role in this proximity effect and that graphene can act as a probe to detect defects in semiconducting surfaces.

Comparision of anti-HLA antibodies of kidney transplant candidates with chronic renal failure by two different methods: Flow-PRA and Luminex PRA.

OBJECTIVE: The aim of the study was to compare anti-HLA antibodies examined as panel-reactive antibody (PRA) in kidney transplant candidates with chronic renal failure (CRF) with the use of 2 methods: Flow-PRA and Luminex-PRA. METHODS: CRF patients displaying class I PRA (n = 34) and/or class II PRA (n = 41) were tested by the 2 different methods from April 2012 to September 2012, using antigen-coated beads. RESULTS: Eleven (32.3%) 34 patients tested for class I PRA were female and 23 (67.7%) male; 17 (41.5%) 41 patients tested for class II PRA were female and 24 (58.5%) male. Only 2 patients were preemptive, the others had been subjected to dialysis. The concordance ratio of class I PRA test results between Flow-PRA and Luminex PRA was 67.6%. Whereas 13 samples (38.2%) were positive by Flow-PRA, 22 (64.7%) were positive by Luminex-PRA. Two of the 3 patients not previously immunized were found to be positive only by Luminex PRA; 1 was noted to be positive only by Flow-PRA. Regarding class II PRA screening, the concordance between Flow-PRA and Luminex PRA was 70.7%. Whereas 14 (34.1%) samples were positive for Flow-PRA; 24 (58.5%) were positive for Luminex-PRA. The 2 patients not previously immunized were positive only in Luminex PRA. CONCLUSIONS: We speculated that the reason for the low concordance ratios was due to the use of sera that had been previously found to be indeterminate in PRA tests. We also speculated that the low concordance ratios were due to the coating procedure for the beads, which may cause changes in antigenic epitopes and decrease concordance between Flow-PRA and Luminex-PRA.

Comparison of complement-dependent cytotoxic and flow-cytometry crossmatch results before cadaveric kidney transplantation.

AIM: The presence of HLA donor-specific antibodies (DSA) before kidney transplantation decreases graft survival. In this study, we compared crossmatch results of kidney transplantation candidates, for cadaveric renal donation between March 10, 2012, and September 7, 2012. MATERIAL AND METHOD: The 47 kidney transplantation candidates tested for crossmatch included 10 for cadaveric donor organs. Two crossmatch methods were performed: complement-dependent cytotoxic crossmatch (CDCXM) and flow cytometry crossmatch (FCXM). Spleen cells were used as the source of lymphocytes for all crossmatch tests. RESULTS: The T and B cell ratios isolated from spleen were 38.8% and 34.8%, respectively. The concordance ratio of the two methods was 76.6% with 23.4% discordant results. Regarding the discordant results, 4.2% were positive CDCXM but negative FCXM; 191%, negative CDCXM but positive FCXM. All patients displaying positive crossmatches had a previous immunization history. As a result, we speculated that the positive CDCXM but negative FCXM results were due to the washing procedures in the FCXM disturbing antigen-antibody complexes. We suggest at least two different methods to be performed for crossmatch tests before kidney transplantation. CDCXM detects immunoglobulin G1 (IgG1) and IgG3, which are critical for rejection. FCXM is able to detect all IgG subgroups because of its high sensivity. As a result we suggest that both CDCXM and FCXM are preferrable strategies to detect DSAs.

Clinical and molecular studies in two families with Fraser syndrome: a new FRAS1 gene mutation, prenatal ultrasound findings and implications for genetic counselling.

Fraser syndrome is a rare autosomal recessive genetic disorder characterized by cryptophthalmus, variable expression of cutaneous syndactyly of fingers and toes, genital ambiguity and renal agenesis/dysgenesis. We present here molecular and clinical findings of four fetuses with FS from two families. Molecular genetic studies in the two families revealed mutations in FRAS1 gene allowing better genetic counselling and subsequent prenatal diagnosis in one of the two families. In family one, a nonsense mutation (c.3730C>T, p.R1244X) previously described in a Polish patient was found. In family two a novel nonsense mutation previously not known was detected (c.370C>T, p.R124X). PGD is planned for family 1.

Observation of long spin-relaxation times in bilayer graphene at room temperature.

We report on the first systematic study of spin transport in bilayer graphene (BLG) as a function of mobility, minimum conductivity, charge density, and temperature. The spin-relaxation time τ(s) scales inversely with the mobility µ of BLG samples both at room temperature (RT) and at low temperature (LT). This indicates the importance of D'yakonov-Perel' spin scattering in BLG. Spin-relaxation times of up to 2 ns at RT are observed in samples with the lowest mobility. These times are an order of magnitude longer than any values previously reported for single-layer graphene (SLG). We discuss the role of intrinsic and extrinsic factors that could lead to the dominance of D'yakonov-Perel' spin scattering in BLG. In comparison to SLG, significant changes in the carrier density dependence of τ(s) are observed as a function of temperature.

Current-induced excitations in single cobalt ferromagnetic layer nanopillars.

Current-induced excitations in Cu/Co/Cu single ferromagnetic layer nanopillars ( approximately 50 nm in diameter) have been studied experimentally as a function of Co layer thickness at low temperatures for large applied fields perpendicular to the layers. For asymmetric junctions current-induced excitations are observed at high current densities for only one polarity of the current and are absent at the same current densities in symmetric junctions. These observations confirm recent predictions of spin-transfer torque induced spin-wave excitations in single layer junctions with a strong asymmetry in the spin accumulation in the leads.

Current-induced magnetization reversal in high magnetic fields in Co/Cu/Co nanopillars.

Current-induced magnetization dynamics in Co/Cu/Co trilayer nanopillars (approximately 100 nm in diameter) have been studied experimentally at low temperatures for large applied fields perpendicular to the layers. At 4.2 K an abrupt and hysteretic increase in resistance is observed at high current densities for one polarity of the current, comparable to the giant magnetoresistance effect observed at low fields. A micromagnetic model that includes a spin-transfer torque suggests that the current induces a complete reversal of the thin Co layer to alignment antiparallel to the applied field--that is, to a state of maximum magnetic energy.